Loeys-Dietz syndrome 2

description: A rare autosomal dominant inherited disorder of connective tissue caused by mutations in either the TGFBR1 or TGFBR2 gene. Like Loeys-Dietz syndrome type I the disease is characterized by enlargement of the aorta and other arteries, and arterial tortuosity, but skeletal signs are typically less severe or absent in type 2. Skin abnormalities, such as velvety skin are often present in type 2.


Aicardi-Goutieres syndrome 7

category: biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing

description: Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the IFIH1 gene.


hyper-IgM syndrome type 3

description: A form of Hyper IgM syndrome characterized by mutations of the CD40 gene. In this type, Immature B cells cannot receive signal 2 from helper T cells which is necessary to mature into mature B cells.


name: IL-7R-Alpha-deficient Severe Combined Immunodeficiency

description: An autosomal recessive form of severe combined immunodeficiency characterized as T-cell negative, B-cell positive, NK cell positive, and with mutations in the gene encoding interleukin-7 receptor alpha chain protein. This class of SCID accounts for approximately 10% of all SCID cases.


Stickler syndrome type 2

description: Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases). Stickler syndrome type 2 is caused by mutations in the COL11A1 gene (1p21).


UV-sensitive syndrome 3

description: Any UV-sensitive syndrome in which the cause of the disease is a mutation in the UVSSA gene.


name: SAMD9L-Associated Hereditary Myelodysplastic Syndrome

description: A familial myelodysplastic syndrome caused by inherited mutations in the SAMD9L gene.


name: ectodermal dysplasia and immunodeficiency 1

description: An X-linked recessive condition caused by mutation(s) in the IKBKG gene, encoding NF-kappa-B essential modulator (NEMO). It is characterized by the onset of recurrent severe infections due to immunodeficiency in early infancy or in the first years of life. Affected individuals may present with ectodermal dysplasia, including conical incisors, hypo/anhidrosis, and thin skin or hair.


C4 Deficiency

description: Lack of production of functional C4 protein, due to a genetic defect requiring homozygous loss of both the C4A and C4B genetic paralogs. Approximately 75% of patients with a C4 deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae.


name: Severe Combined Immunodeficiency due to RAG1 Deficiency

description: An inherited condition caused by mutation(s) in the RAG1 gene, encoding V(D)J recombination-activating protein 1. It is characterized by severe combined immunodeficiency that is both T-cell and B-cell negative.


46,XY Disorder of Androgen Action

description: Conditions in 46,XY individuals in which androgens are produced in typical amounts, but tissue response to androgens is reduced.


name: Childhood Myelodysplastic Syndrome with Low Blasts

description: Myelodysplastic syndrome that occurs in childhood and is characterized by cytopenia and the presence of less than 5% blasts in bone marrow and less than 2% blasts in peripheral blood.


telomere syndrome

description: Accelerated aging syndromes often caused by inheritable gene mutations resulting in decreased telomere lengths.


neurocutaneous syndrome

description: A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs.


Acquired Feminization

description: The development of secondary female sex characteristics in males due to extrinsic factors.


Diamond-Blackfan anemia 9

description: Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS10 gene.


Ectopic calcitonin production

description: A syndrome characterized by abnormal secretion of calcitonin in conjunction with neoplastic growth occurring anywhere in the body.


paraneoplastic polyneuropathy

description: A diffuse or multifocal peripheral neuropathy caused by the effects of a distant neoplasm. It may be attributed, in part, to the immune response to neoplasm-elaborated proteins. The neuropathy may be sensory, motor, mixed or autonomic. It may be the initial presentation of an occult neoplasm. Detection and resection of the neoplasm may result in cure.


AGAT deficiency

description: L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy.


Coffin-Siris syndrome

description: Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations.


Potocki-Lupski syndrome

description: 17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.


Hermansky-Pudlak syndrome

description: Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity.


Stickler syndrome

description: Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases).


Muenke syndrome

description: Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay.


Wolf-Hirschhorn syndrome

description: Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.


description: A creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations.


Cole-Carpenter syndrome

description: An extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).


Lennox-Gastaut syndrome

description: Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies.


Postpericardiotomy Syndrome

description: An inflammatory disorder of the pericardium and pleura seen as a post-operative complication of cardiovascular surgery.


DiGeorge syndrome

description: A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly.


description: A syndrome which occurs in individuals with a history of alcohol abuse. It is caused by prolonged alcohol-induced neurological damage and malnutrition including vitamin and electrolyte deficiencies. Clinical signs include altered mental status, visual impairment and decreased muscle coordination. The clinical course varies and is, in part, dependent upon the severity of symptoms at presentation. The prognosis is poor and worsens if alcohol abuse continues.


Neonatal Opiate Withdrawal Syndrome

description: A constellation of neurobehavioral features observed in a neonate following cessation or reduction of postnatal exposure to opioids.


holoprosencephaly 5

description: Holoprosencephaly associated with mutations in the ZIC2 gene.


calciphylaxis

description: Calciphylaxis is a disease in which blood vessels (veins and arteries) become blocked by a build-up of calcium in the walls of the vessels, preventing blood from flowing to the skin or internal organs. The lack of blood flow (ischemia) damages healthy tissue and causes itto die (necrosis). The most obvious and frequent symptom of calciphylaxis is damage to the skin, as ulcers can developand become infected easily. Calciphylaxis can also affect fat tissue, internal organs, and skeletal muscle, causing infections, pain, and organ failure.These symptoms are often irreversible, and many individuals with calciphylaxis may not survive more thana few months after they are diagnosed due to infection that spreads throughout the body (sepsis), or organ failure. The exact cause of calciphylaxis is unknown. Treatments may include medications to reduce pain, antibiotics to treat infections, and various approaches to preventing the development or worsening of this condition.


mucopolysaccharidosis type 4

description: A lysosomal storage disease belonging to the group of mucopolysaccharidoses, and characterized by spondylo-epiphyso-metaphyseal dysplasia. It exists in two forms, A and B.


Timothy syndrome

description: Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.


ring chromosome 14

description: Ring chromosome 14 syndrome is characterized by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears.


lateral medullary syndrome

description: A syndrome caused by an infarct in the vertebral or posterior inferior cerebellar artery. It is characterized by sensory defects affecting the same side of the face as the infarct and the opposite side of the trunk as the infarct. Patients experience difficulty swallowing and/or speaking.


name: cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1

description: A CADASIL characterized by migraine, strokes, and white matter lesions that has material basis in heterozygous mutation in the NOTCH3 gene on chromosome 19p13.


Frasier syndrome

description: Frasier syndrome is characterized by the association of male pseudohermaphrodism and glomerular nephropathy. This syndrome is associated with a high risk of developing gonadoblastoma.


Potocki-Shaffer syndrome

description: Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).


name: GATA2 deficiency with susceptibility to MDS/AML

description: A disorder arising from deficiency in the GATA2 with a wide spectrum of phenotypes. Autosomal dominant mutations of GATA2 cause a haploinsufficiency, which, in consequence, cause individuals to develop hematological, immunological, lymphatic, or other presentations. These often progress to severe organ (e.g. lung) failure, opportunistic infections, myelodysplastic syndrome, and/or acute myeloid leukemia. The most common clinical denominator is the propensity for myeloid neoplasia (myelodysplastic syndrome [MDS], myeloproliferative neoplasms [MPN], chronic myelomonocytic leukemia [CMML], acute myeloid leukemia [AML]).


Diamond-Blackfan anemia 3

description: Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS24 gene.


split hand-foot malformation 1

description: Split-hand/foot malformation mapped to chromosome 7q21.3


description: The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterized by a specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene has been localized to within a 12-Mb region on chromosome 8p11.23-q11.21.


name: diaphyseal medullary stenosis-bone malignancy syndrome

description: Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma).


reticular dysgenesis

description: Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated.


Immunodeficiency of Unknown Origin

description: A condition of compromised immune function resulting from an uncharacterized defect.


immunodeficiency 36

description: An autosomal dominant condition caused by mutation(s) in the PIK3R1 gene, encoding phosphatidylinositol 3-kinase regulatory subunit alpha. It is characterized by a heterogenous phenotype, including recurrent respiratory infections, lymphoproliferation, and antibody deficiency. There is an increased likelihood of development of B-cell lymphoma.


name: acquired monoclonal Ig light chain-associated Fanconi syndrome

description: A rare monoclonalgammopathy characterized by renal proximal tubule dysfunction secondary to monoclonal kappa light chain deposits in proximal tubular cells. Clinical presentation is with variable chronic kidney disease, low molecular weight proteinuria, aminoaciduria, hyperphosphaturia, uricosuria, bicarbonaturia, and non-diabetic glycosuria. Renal phosphate and urate wasting may cause hypophosphatemia and hypouricaemia.


holoprosencephaly 2

description: A rare disorder characterized by the partial separation of the cerebral hemispheres. It is associated with mutations in the SIX3 gene.


Endocrine Syndrome

description: A group of signs, symptoms, and clinicopathological characteristics that result from the pathologic function of one or more endocrine organs.


cleidocranial dysplasia 1

description: A condition that primarily affects the development of the bones and teeth. Characteristic features include underdeveloped or absent collarbones (clavicles); dental abnormalities; and delayed closing of the spaces between the skull bones (fontanels). Other features may include decreased bone density (osteopenia), osteoporosis, hearing loss, bone abnormalities of the hands, and recurrent sinus and ear infections. CCD is caused by changes (mutations) in the RUNX2 gene and inheritance is autosomal dominant. It may be inherited from an affected parent or occur due to a new mutation in the RUNX2 gene. Management may include dental procedures, treatment of sinus and ear infections, use of helmets for high-risk activities, and/or surgery for skeletal problems.


Ehlers-Danlos syndrome, classic type, 2

description: Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A2 gene.


Roberts-SC phocomelia syndrome

description: A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the ESCO2 gene. Clinical signs at birth include multiple limb and facial abnormalities.


name: MPDU1-congenital disorder of glycosylation

description: The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies.


orofacial cleft 1

description: Cleft lip with or without cleft palate mapped to chromosome 6p24.


mucopolysaccharidosis type 3A

description: A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme heparan sulfate sulfatase. It is characterized by behavioral changes, sleep disturbances, mental developmental delays and seizures.


Smith-Magenis syndrome

description: Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.


name: Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency

description: Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12RB1 gene.


Organic delusional disorder

description: A mental disorder caused by intrinsic disease which is characterized by persistent or recurrent irrational beliefs. Consciousness and memory are not affected. It may be broadly classified as a psychotic disorder due to a general medical condition.


Landau-Kleffner syndrome

description: Landau-Kleffner syndrome (LKS) is a rare neurological syndrome characterized by the sudden or gradual development of aphasia (the inability to understand or express language) and recurrent seizures (epilepsy). Children with LKS typically develop normally until signs and symptoms of the syndrome begin to develop between age 2 and 8 years. Males are more often affected by LKS than females. In about 20% of people with LKS, mutations (changes) in the GRIN2A gene have been identified. The syndrome is inherited in an autosomal dominant manner. In other cases, the syndrome may be caused by changes to other unidentified genes. LKS is diagnosed when a doctor sees clinical features that are consistent with the syndrome such as a loss of speech and an electroencephalogram (EEG) that shows specific kinds of seizure activity. Genetic testing can be used to confirm if there is a mutation in GRIN2A, but this testing is not done routinely. Treatment for LKS usually consists of medications such as anticonvulsants and corticosteroids to help prevent seizures. Speech therapy should also be started promptly in order to ensure the best long-term outlook for children with LKS.


cartilage-hair hypoplasia

description: Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.


X-linked Ehlers-Danlos syndrome

description: Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. EDS type V is characterized by hyperextensible skin but tissue fragility and joint hyperlaxity are mild. This form of EDS is very rare and has been described in only two families so far. Other reported features include congenital heart disease, hernias and short stature. Transmission is X-linked recessive.


name: acute inflammatory demyelinating polyradiculoneuropathy

description: An inflammatory neuropathy belonging to the clinical spectrum of Guillain-Barre syndrome (GBS).


Kallmann syndrome

description: Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs).


description: Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS, a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations.


Diamond-Blackfan anemia 11

description: Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL26 gene.


Ectopic Parathormone Secretion Syndrome

description: A syndrome characterized by abnormal secretion of parathyroid hormone in conjunction with neoplastic growth occurring anywhere in the body.


Sjogren-Larsson syndrome

description: A neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity.


Capgras syndrome

description: A rare neuropsychiatric disorder whose primary feature is the delusion that relatives or close acquaintances are not the persons that they are known to be. Visual recognition appears intact but familiar persons are thought be imposters, that is, they appear similar or identical to known individuals but are not. Most cases are seen in the context of a psychotic state. However, if manifested post-traumatically, the cause is most likely due to neurologic impairment. This disorder should be contrasted with prosopagnosia, in which an individual may not recognize a familiar person at all.


Autosomal recessive agammaglobulinemia

description: A genetically heterogenous group of primary immunodeficiencies characterized by low or absent circulating antibodies/or and low or absent B-cells.


Loeys-Dietz syndrome 1

description: A rare autosomal dominant syndrome caused by mutations in the TGFBR1 gene. It is characterized by vascular abnormalities (aortic and arterial aneurysms, aortic dissection, and tortuosity of the arteries), hypertelorism, bifid uvula, and early fusion of the skull bones.


alpha 1-antitrypsin deficiency

description: Alpha-1-antitrypsin deficiency is a hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis.


ring chromosome 22

description: Ring chromosome 22 is a rare condition caused by having an abnormal chromosome 22 that forms a ring. In this chromosome abnormality,a segment on the short (p) arm and a segment on the long (q) arm of 22 are missing. The amount of material lost varies from person to person. The remaining ends of chromosome 22 have joined together to make a ring shape. Chromosome 22 is an acrocentric chromosome, meaning that the centromere is near one end, creating a very small short (p) arm that does not contain genes that are relevant to development. Thus, only the lost genes on the long (q) arm matter. Knowing the breakpoint in the long arm is likely more helpful. Most cases are sporadic (happen by chance) and occur in people with no history of the condition in their family.


Liddle syndrome

description: A rare genetic form of low-renin hypertension characterized by hypertension associated with decreased plasma levels of potassium and aldosterone.


Organic personality disorder

description: A mental disorder caused by intrinsic disease which is characterized by persistent alteration of a known behavioral pattern. Changes in emotional stability, motivation, judgment or impulse control are usually noted. It is broadly classified as a personality change due to a general medical condition.


Loeys-Dietz syndrome

description: Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum.


selective IgE deficiency disease

description: A rare dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class E (IgE). It is an uncommon primary antibody deficiency. It is most likely an inherited immunodeficiency. It may be caused by decreased or inefficient class-switching from progenitor B cells without any corresponding decreases in the other isotypes. Most affected persons appear asymptomatic but may show a predisposition to autoimmune and respiratory diseases.


In Utero Drug Withdrawal

description: Drug withdrawal symptoms in a fetus following maternal discontinuation or reduction of use of one or more addictive substance(s) that have caused fetal physiological dependence.


name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

description: An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death.


description: Aminopterin/Methotrexate embryofetopathy is a syndrome of developmental anomalies characterized by growth deficiency, facial dysmorphism and skull, limb and neural defects secondary to maternal exposure to aminopterin or methotrexate (MTX) during pregnancy.


name: ectopic hormone secretion syndrome associated with neoplasia

description: Abnormal secretion of hormones in conjunction with neoplastic growth occurring anywhere in the body.


apparent mineralocorticoid excess

description: Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism.


Cold-induced sweating syndrome 1

description: Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.


Myxedema, Congenital

description: Congenital iodine deficiency syndrome associated with milder mental retardation, short stature, goiter, and hypothyroidism. It results from iodine deficiency and hypothyroidism in the fetus during late pregnancy or in the neonatal period.


diethylstilbestrol syndrome

description: Diethylstilbestrol (DES) syndrome is a malformation syndrome reported in offspring (children and grandchildren) of women exposed to DES during pregnancy and is characterized by reproductive tract malformations, decreased fertility and increased risk of developing clear cell carcinoma of the vagina and cervix in young women. Reproductive malformations reported in DES syndrome include small, T-shaped uteri and other uterotubal anomalies that increase the risk of miscarriages in women and epididymal cysts, microphallus, cryptorchidism, or testicular hypoplasia in men. DES, a synthetic nonsteroidal estrogen was widely prescribed from 1940-1970 to prevent miscarriage.


name: granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1

description: Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF1 gene.


Diamond-Blackfan anemia 4

description: Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS17 gene.


selective IgM deficiency

description: Selective IgM deficiency (SIgMD) is a rare immune disorder that has been reported in association with serious infections, such as bacteria in the blood (bacteremia, also known as septicemia). Although SIgMD was first described in two children, the disorder can occur in babies, children, and adults. It is characterized by isolated absence or deficiency of immunoglobulin M (IgM), normal levels of other immunoglobulins, and recurrent infections (especially by Staphylococcus aureus, Streptococcus pneumoniae, Hemophilus influenza). The cause is still unclear. The diagnosis includes isolated deficiency ofIgM in the blood and no other immunodeficiency or secondary cause of low IgM. Patients with SIgMD and recurrent infections are managed like other antibody defects and deficiencies. It is suggested that people with SIgMD have pneumococcal and meningococcal vaccines, people with SIgMD who have recurrent infections should have prophylactic antibiotics and immune globulin replacement.


Bloom syndrome

description: Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.


Congenital Disorder of Natural Immunity

description: A broad classification of inherited disorders presenting at birth that affect the initial immunologic response to infection. In these disorders, the primary role of innate immunity to detect and neutralize pathogens which the individual has not been previously exposed is decreased or ineffective.


name: PMM2-congenital disorder of glycosylation

description: The most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults.


Fanconi anemia complementation group E

description: Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2.


name: autosomal recessive multiple pterygium syndrome

description: A rare congenital disorder, this is the non-lethal variant of multiple pterygium syndrome, characterized by orthopedic and craniofacial abnormalities, pterygium and akinethesia. The majority of cases are autosomal dominant.


name: type 3 autoimmune lymphoproliferative syndrome

description: A rare, primary immunodeficiency. It is caused by a currently undetermined defect in the Fas-induced apoptosis pathway. No mutations in Fas, FASLG or CASP10 are detectable. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma.


name: ALG3-congenital disorder of glycosylation

description: A form of congenital disorders of N-linked glycosylation characterized by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita (AMC), vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). The disease is caused by loss of function mutations of the gene ALG3 (3q27.3).


Melkersson-Rosenthal syndrome

description: The Melkersson-Rosenthal syndrome is a rare disorder characterized by a triad of recurrent orofacial swelling, relapsing facial paralysis and fissured tongue and onset in childhood or early adolescence. It has an estimated incidence of 8/10,000. The etiology is unknown but hereditary predisposition is suspected.


Multiple Endocrine Neoplasia Type 5

description: An inherited neoplastic syndrome caused by mutations in the MYC-associated factor X (MAX) gene. It is associated with the development of paragangliomas/pheochromocytomas, pituitary neuroendocrine tumors, and parathyroid adenomas. Renal cell carcinomas, squamous cell carcinomas, breast carcinomas, lung carcinomas, and endometrial carcinomas have also been reported.


name: myelodysplastic syndrome with multilineage dysplasia

description: Refractory cytopenias with multilineage dysplasia (RCMD) is a frequent subtype of myelodysplastic syndrome (MDS) characterized by 1 or more cytopenias in the peripheral blood and dysplasia in 2 or more myeloid lineages.


Meigs syndrome

description: A rare syndrome affecting females. It is characterized by pleural effusion, ascites and non-malignant ovarian neoplasm. This syndrome usually follows a benign course. Prognosis is favorable following surgical resection of the ovarian mass.


name: familial cold autoinflammatory syndrome 2

description: An autoinflammatory disease caused by mutations in the NLRP12 gene. It is characterized by periodic fevers beginning in the first year of life that are triggered by cold exposure. Episodes occur more than once per month.


carcinoid syndrome

description: A syndrome characterized by signs and symptoms caused by advanced carcinoid tumors. They include skin flushing, diarrhea, wheezing, and tachycardia.


Perforin Deficiency

description: A condition of decreased or absent presence of perforin. Deficiency of this protein is associated with T-cell lymphoblastic lymphoma, aplastic anemia, hemophagocytic lymphohistiocytosis familial type 2, autoimmune lymphoproliferative syndrome and other lymphoproliferative disorders, including various forms of lymphoma.


Neonatal Drug Withdrawal

description: A constellation of neurobehavioral features observed following cessation or reduction of antenatal or postnatal drug exposure.


name: AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome

description: An autosomal dominant condition caused by mutations(s) in the AHDC1 gene, encoding transcription factor Gibbin. It has a broad clinical spectrum, which includes impaired intellectual development, obstructive sleep apnea and mild facial dysmorphia.


name: familial episodic pain syndrome with predominantly lower limb involvement

description: A rare, autosomal dominant disorder caused by mutation in the SCN11A gene. It is characterized by intense episodic pain mainly affecting the distal lower extremities in early childhood. The pain diminishes with age.


name: autosomal recessive Kenny-Caffey syndrome

description: An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet.


Uveitis-glaucoma-hyphema syndrome

description: Clinical triad of uveitis, glaucoma, and hyphema (UGH), especially associated with the early anterior chamber intraocular lens (IOL). Glaucoma is believed to be caused by movement of the IOL against the iris causing release of inflammatory and red blood cell debris, which obstruct the trabecular meshwork. The haptic also may cause direct damage to the trabecular meshwork contributing to the glaucoma. Incidence of UGH is dependent on both surgical methodology applied in the cataract population and type of IOL used. UGH is particularly common if metal clip lenses have been used. Components of the condition may be reversed if the offending IOL is removed before permanent damage has occurred.


Cri-du-chat syndrome

description: Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.


androgen insensitivity syndrome

description: Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS).


name: Myelodysplastic Syndrome with Excess Blasts and Fibrosis

description: Myelodysplastic syndrome with excess blasts associated with significant reticulin fibrosis of the bone marrow.


immunodeficiency 27A

description: A genetic condition caused by mutation(s) in the IFNGR1 gene, encoding interferon gamma receptor 1, resulting in impairment of interferon-gamma mediated immunity. Clinically, it is characterized by predisposition to illness caused by moderately virulent mycobacterial species.


CHARGE syndrome

description: CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).


cardiospondylocarpofacial syndrome

description: Cardiospondylocarpofacial syndrome is characterized by mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles, and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance.


ring chromosome 21

description: Ring chromosome 21 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including growth retardation, developmental delay, intellectual disability, epilepsy, microcephaly, short stature, dysmorphic features, hypogammaglobulinemia, thrombocytopenia and unspecific skeletal anomalies (hemivertebrae, clinodactyly, syndactyly). In rare cases, it has been described in phenotypically normal individuals.


Acquired Hypogammaglobulinemia

description: A primary immunodeficiency characterized by low levels or absence of all the immunoglobulin classes and lack of B-lymphocytes or plasma cells. It results in recurrent bacterial infections. Complications include autoimmune phenomena and cancer development.


name: sterile multifocal osteomyelitis with periostitis and pustulosis

description: An autoinflammatory disease caused by mutations in the IL1RN gene, which encodes the IL1 receptor antagonist. It presents in infancy, and is characterized by systemic inflammation, pustular rash, bone pain, sterile osteitis, and periostitis.


name: purine nucleoside phosphorylase deficiency

description: Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.


congenital myasthenic syndrome 6

description: Congenital myasthenic syndrome caused by mutation(s) in the CHAT gene, encoding choline O-acetyltransferase. It is inherited in an autosomal recessive manner.


name: alpha thalassemia-X-linked intellectual disability syndrome

description: X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal.


multiple endocrine neoplasia type 2B

description: Multiple endocrine neoplasia caused by mutation of the RET gene. Patients develop medullary thyroid carcinomas and numerous neural defects including neuromas.


2q37 microdeletion syndrome

description: A chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.


name: X-linked lymphoproliferative disease due to SH2D1A deficiency

description: A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked SH2D1A gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven severe or fulminant mononucleosis, hemophagocytic lymphohistiocytosis (presenting with fulminant hepatitis, hepatic necrosis, bone marrow hypoplasia, and neurological involvement), hypogammaglobulinemia, and B-cell lymphoma. Additional variable manifestations include vasculitis, lymphomatoid granulomatosis, aplastic anemia, and chronic gastritis. Occasionally, T-cell lymphoma may be observed. Laboratory findings include normal or increased activated T cells and reduced memory B cells.


Hereditary Myelodysplastic Syndrome

description: Myelodysplastic syndrome caused by inherited damaging mutations in cancer susceptibility genes.


Robinow syndrome

description: Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia.


asphyxiating thoracic dystrophy 3

description: An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22.


name: severe combined immunodeficiency due to DCLRE1C deficiency

description: Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation.


Wiskott-Aldrich syndrome 2

description: Any Wiskott-Aldrich syndrome in which the cause of the disease is a mutation in the WIPF1 gene.


name: Myelodysplastic Syndrome/Acute Myeloid Leukemia with Mutated TP53

description: Myelodysplastic syndrome/acute myeloid leukemia characterized by the presence of TP53 gene mutations. There are 10%-19% blasts in bone marrow or peripheral blood.


Cernunnos-XLF deficiency

description: Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.


Mayer-Rokitansky-Kuster-Hauser syndrome

description: Spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper 2/3 of the vagina in otherwise phenotypically normal females. It can be classified as either MRKH syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).


adult Fanconi syndrome

description: Probably related to a recessive gene, this is Fanconi Syndrome, characterized by adult onset.


name: Robertsonian translocation Down syndrome

description: Chromosomal disorder in which (part or full) chromosome 21 is attached to another chromosome, resulting in the presence of a third copy of part of full chromosome 21 genetic material. A Robertsonian translocation is a structural chromosomal anomaly in which two acrocentric chromosomes break, resulting in the fusion of the nonhomologous chromosomes’ long arms to form a single, large chromosome.


description: An autosomal recessive condition caused by mutation(s) in the STAMBP gene, encoding STAM-binding protein. It is characterized by severe microcephaly, diffuse cutaneous capillary malformations, refractory epilepsy, and developmental delay.


Primary Sjögren's syndrome

description: Sjogren syndrome without a concomitant systemic autoimmune disorder.


name: dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome

description: A syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH).


Lesch-Nyhan syndrome

description: Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems.


congenital T-cell immunodeficiency

description: A broad classification of inherited disorders presenting at birth that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective.


Ectopic growth hormone secretion

description: A syndrome characterized by abnormal secretion of growth hormone in conjunction with neoplastic growth occurring anywhere in the body.


Bohring-Opitz syndrome

description: Bohring-Opitz syndrome is characterized by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported.


angioosteohypertrophic syndrome

description: A congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb.


Zellweger spectrum disorders

description: The most severe variant seen in the peroxisome biogenesis disorders that is characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.


ring chromosome 18

description: Ring chromosome 18 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics.


long QT syndrome 5

description: Any long QT syndrome in which the cause of the disease is a mutation in the KCNE1 gene.


Susac syndrome

description: Susac syndrome (SS) is a rare disorder characterized by the triad of central nervous system (CNS) dysfunction, branch retinal artery occlusions (BRAOs) and sensorineural hearing loss (SNHL). It is presumably due to autoimmune-mediated occlusions of microvessels in the CNS, the retina, and the inner ear.


Cockayne syndrome type 1

description: Cockayne syndrome caused by mutation(s) in the ERCC8 gene, encoding DNA excision repair protein ERCC-8.


name: Ehlers-Danlos syndrome, kyphoscoliotic type 1

description: A form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility.


Activated PI3K-Delta Syndrome 1

description: A rare, autosomal dominant inherited primary immunodeficiency disorder caused by mutations in PIK3CD gene. Clinical manifestations include the following: recurrent respiratory tract infections; non-malignant lymphoproliferation that results in generalized lymphadenopathy and hepatosplenomegaly; chronic infections with Epstein-Barr virus, cytomegalovirus, and herpes simplex virus; cytopenia; and glomerulonephritis. Patients are at an increased risk of developing non-Hodgkin or Hodgkin lymphoma.


name: macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss

description: An inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD.


Diamond-Blackfan anemia 8

description: Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS7 gene.


name: Severe Combined Immunodeficiency due to CD45 Deficiency

description: An autosomal recessive condition caused by mutation(s) in the PTPRC (CD45) gene, encoding receptor-type tyrosine-protein phosphatase C. It is characterized by severe combined immunodeficiency that is T-cell negative, B-cell positive, and NK cell positive.


primary Fanconi syndrome

description: A condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones.


name: COVID-19-Associated Acute Respiratory Distress Syndrome

description: Acute respiratory distress syndrome caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2).


hyper-IgM syndrome

description: A primary immune deficiency disorder characterized by defective CD40 signaling; via B cells affecting class switch recombination (CSR) and somatic hypermutation.


gray platelet syndrome

description: Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear.


Jeune syndrome

description: Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes.


Fanconi anemia complementation group O

description: Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene.


Poland syndrome

description: Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly.


Ectopic prolactin secretion

description: A syndrome characterized by abnormal secretion of prolactin in conjunction with neoplastic growth occurring anywhere in the body.


name: Myelodysplastic neoplasm with biallelic TP53 inactivation

description: Myelodysplastic syndrome characterized by the presence of biallelic TP53 inactivating alterations. They include biallelic TP53 gene mutations or one TP53 gene mutation and concurrent copy loss of TP53. There are less than 20% blasts in bone marrow and peripheral blood. It is associated with a poor prognosis.


schwannomatosis

description: Rare genetic disorder caused by mutations in the SMARCB1 and LZTR1 genes. It is characterized by the presence of multiple Schwannomas.


Saethre-Chotzen syndrome

description: Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations.


Rett syndrome

description: A severe neurodevelopmental disorder affecting the central nervous system.


alcohol sensitivity, acute

description: Alcohol intolerance is characterized by immediate unpleasant reactions after drinking alcohol. The most common signs and symptoms of alcohol intolerance are stuffy nose and skin flushing. Alcohol intolerance is caused by a genetic condition in which the body is unable to break down alcohol efficiently, usually found in Asians. These individuals accumulate acetaldehyde, the primary metabolite of ethanol, because of a genetic polymorphism of aldehyde dehydrogenase (ALDH) that metabolizes acetaldehyde to nontoxic acetate. The only way to prevent alcohol intolerance reactions is to avoid alcohol. Alcohol intolerance isn't an allergy. However, in some cases, what seems to be alcohol intolerance may be a reaction to something in an alcoholic beverage, such as chemicals, grains or preservatives. Combining alcohol with certain medications also can cause reactions. In rare instances, an unpleasant reaction to alcohol can be a sign of a serious underlying health problem that requires diagnosis and treatment.


congenital myasthenic syndrome 12

description: Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the GFPT1 gene.


macrophage activation syndrome

description: A complication of rheumatic disease that is caused by excessive activation and uncontrolled proliferation of T lymphocytes and well-differentiated macrophages. It is characterized by fever, pancytopenia, liver insufficiency, coagulopathy and neurologic symptoms.


Shwachman-Diamond syndrome

description: Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.


description: An autosomal recessive subtype of trichothiodystrophy caused by mutation(s) in the TARS1 gene, encoding threonine-tRNA ligase 1, cytoplasmic.


lymphedema-distichiasis syndrome

description: Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations.


Diamond-Blackfan anemia 7

description: Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL11 gene.


name: rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome

description: A very rare disorder that appears after the first year and a half of life in previously healthy children. It is characterized by rapid-onset weight gain, hypothalamic dysfunction, breathing abnormalities, and autonomic system dysregulation. The hypothalamic dysfunction manifestations include inability to maintain normal water balance, high prolactin levels, low thyroid, low cortisol, and early or late puberty. The breathing abnormalities include sleep apnea and alveolar hypoventilation, requiring ventilation support. The autonomic system dysregulation includes eye abnormalities, intestinal abnormalities, temperature dysregulation, and low heart rhythm. This disorder requires early recognition because it may lead to cardiorespiratory arrest. Up to 40% of the patients develop tumors of neural crest origin.


schwannomatosis 2

description: Schwannomatosis caused by germline mutations in the LZTR1 gene.


Kleine-Levin syndrome

description: Kleine-Levin syndrome (KLS) is a rare neurological disorder of unknown origin characterized by relapsing-remitting episodes of hypersomnia in association with cognitive and behavioral disturbances.


distal monosomy 10p

description: Distal monosomy 10p is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13.


Marshall syndrome

description: Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.


pentasomy X

description: Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX).


Complete Trisomy 21 Syndrome

description: A syndrome characterized by the presence of three complete copies of genetic material for chromosome 21, instead of the normal two. It leads to a variety of abnormalities that include mental retardation, macroglossia, microgenia, epicanthic eyelids, and a single transverse palmar crease.


name: autosomal recessive hypohidrotic ectodermal dysplasia

description: A rare autosomal recessive disorder characterized by developmental abnormalities of the skin, sweat glands, hair and nails. Patients have a reduced ability to sweat. Other signs and symptoms include hypotrichosis and teeth malformations.


15q11q13 microduplication syndrome

description: The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown.


proximal 16p11.2 microdeletion syndrome

description: A chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.


name: Severe Combined Immunodeficiency due to RAG Deficiency

description: A rare severe combined immunodeficiency disorder caused by null mutations in recombination activating gene (RAG) 1 or RAG2. It is associated with a lack of T and B cells.


name: ALG6-congenital disorder of glycosylation 1C

description: A form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions to epilepsy. Retinal degeneration has also been reported. A minority of patients show other manifestations, particularly intestinal (such as protein-losing enteropathy) and liver involvement. The disease is caused by loss of function mutations of the gene ALG6 (1p31.3).


Allan-Herndon-Dudley syndrome

description: A syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.


Jacobsen syndrome

description: A multiple congenital anomaly/intellectual disability contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.


name: Postural Orthostatic Tachycardia Syndrome Associated with Post-Acute Sequelae of SARS-CoV-2 Infection

description: Postural orthostatic tachycardia syndrome (POTS) that started during probable or confirmed acute COVID-19 and persisted at least three months after the initial diagnosis of COVID-19.


trichorhinophalangeal syndrome type I

description: An autosomal dominant malformation syndrome caused by mutations in TRPS1 characterized by distinctive craniofacial and skeletal abnormalities. TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature.


Waterhouse-Friderichsen syndrome

description: A serious disorder characterized by massive adrenal gland hemorrhage secondary to a bacterial infection, most often Neisseria meningitidis infection. It is manifested with decreased blood pressure, shock, disseminated intravascular coagulation, and adrenocortical insufficiency.


paraneoplastic limbic encephalitis

description: A rare disorder characterized by degenerative changes in the limbic area of the brain. Causes include infections and autoimmune conditions; it may also manifest as a paraneoplastic syndrome, most often caused by small cell lung carcinoma. Signs and symptoms include behavioral changes, hallucinations and dementia.


Barre-Lieou syndrome

description: A neurologic syndrome following injury of the spinal sympathetic nerves of the neck. The injury usually results from arthritis or pinching by the adjacent vertebrae. Symptoms include facial pain, chronic allergies, dizziness, neck pain, ear pain and vertigo.


Fanconi anemia complementation group F

description: Fanconi anemia caused by mutations of the FANCF gene. This gene encodes a polypeptide with homology to the prokaryotic RNA-binding protein ROM.


Cowden syndrome 1

description: Any Cowden disease in which the cause of the disease is a mutation in the PTEN gene.


Ellis-van Creveld syndrome

description: Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects.


name: complete androgen insensitivity syndrome

description: Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens.


Refractory Myelodysplastic Syndrome

description: Myelodysplastic syndrome that does not respond to treatment.


Alice in Wonderland syndrome

description: A disorienting neuropsychological condition that affects perception. People experience size distortion such as micropsia, macropsia, pelopsia, or teleopsia. Size distortion may occur of other sensory modalities.


Diamond-Blackfan anemia 1

description: Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS19 gene.


name: spondyloepimetaphyseal dysplasia, sponastrime type

description: A rare genetic disorder characterized by bone marrow failure, spinal abnormalities, saddle nose, and metaphysical striation.


CREST syndrome

description: CREST syndrome is a subtype of limited cutaneous systemic sclerosis (lcSSc) whose name is an acronym for the cardinal clinical features of the syndrome: calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia.


name: Neurofibromatosis Type 1 with Inoperable, Progressive, Symptomatic Plexiform Neurofibromas

description: Progressive, symptomatic neurofibromatosis type 1 associated with plexiform neurofibromas that cannot be removed surgically without risk of substantial morbidity.


Neoplastic Syndromes, Hereditary

description: An inherited genetic condition in which members within a family are at an increased risk for the development of benign and/or malignant neoplasms.


Aicardi syndrome

description: Aicardi syndrome is a rare neurodevelopmental disorder defined by the triad of agenesis of the corpus callosum (total or partial), typical chorioretinal lacunae and infantile spasms that affect almost exclusively females.


selective IgD deficiency disease

description: A rare dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class D (IgD). It is an uncommon primary antibody deficiency. It is most likely an inherited immunodeficiency. It may be caused by decreased or inefficient production of IgD from progenitor B cells without any corresponding decreases in the other isotypes. Most affected persons are asymptomatic and do not appear to be at increased risk for infection.


Neutrophil Actin Defect

description: A genetic disorder characterized by defective polymorphonuclear cell actin function, resulting in impaired granulocyte motility.


Leaky Severe Combined Immunodeficiency

description: A form of severe combined immunodeficiency (SCID) that presents with T-cell counts that are higher than typical for SCID, and variable signs and symptoms including: itchy, erythematous skin, alopecia, hepatosplenomegaly, lymphadenopathy, anemia, thyroid dysfunction and diarrhea. T-cell counts may initially be noted to be within normal ranges since some may "leak" through into the peripheral blood affecting proper measurement.


name: multiple congenital anomalies-hypotonia-seizures syndrome 1

description: Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGN gene.


48,XXYY syndrome

description: The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males.


Hermansky-Pudlak syndrome 6

description: Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS6 gene.


name: acute motor and sensory axonal neuropathy

description: Acute motor-sensory axonal neuropathy (AMSAN) is a motor-sensory, axonal form of Guillain-Barre syndrome (GBS).


name: Lymphocytic Variant Hypereosinophilic Syndrome

description: A hypereosinophilic syndrome characterized by the presence of a clonal T-cell population. Patients present with cutaneous findings including eczematous dermatitis, nodules, papules, and pruritis, rheumatological symptoms, gastrointestinal symptoms, and lymphadenopathy. Lymph node biopsies show eosinophilia, atypical lymphocytes, clonally rearranged T-cells, and architectural distortion. Skin biopsies may also show the clonally rearranged T-cell population.


bone marrow failure syndrome

description: A familial or acquired bone marrow failure syndrome.


Acroosteolysis dominant type

description: A rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics.


name: congenital disorder of glycosylation type 1E

description: The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common.


congenital varicella syndrome

description: Fetal varicella syndrome (CVS) is an acquired developmental anomaly syndrome characterized by skin, neurological, ocular, limbs and growth defects secondary to maternal Varicella-Zoster Virus (VZV) infection.


Marfan syndrome

description: A disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new (de novo) mutation. Treatment is based on the signs and symptoms in each person.


Achenbach syndrome

description: A rare disorder which affects the volar surfaces of fingers. Clinical signs include recurrent, spontaneous or post-traumatic bruising of fingers. The clinical course of the resultant hematoma usually follows a pattern of resolution within days.


name: Severe Combined Immunodeficiency due to RAG2 Deficiency

description: An autosomal recessive condition caused by mutation(s) in the RAG2 gene, encoding V(D)J recombination-activating protein 2. It is characterized by severe combined immunodeficiency that is both T-cell and B-cell negative.


trichothiodystrophy 1, photosensitive

description: An autosomal recessive subtype of trichothiodystrophy caused by mutation(s) in the ERCC2 gene, encoding general transcription and DNA repair factor IIH helicase subunit XPD.


Hypoplastic myelodysplastic syndrome

description: Myelodysplastic syndrome characterized by decreased cellularity in the bone marrow.


name: Myelodysplastic Syndrome/Acute Myeloid Leukemia with Myelodysplasia-Related Cytogenetic Abnormalities

description: Myelodysplastic syndromes/acute myeloid leukemias classified based on specific karyotype findings.


Fanconi anemia complementation group J

description: Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein.


tetrasomy 12p

description: Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p.


name: early-onset parkinsonism-intellectual disability syndrome

description: A basal ganglia disorder characterized by Parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter.


name: Congenital iodine deficiency syndrome of neurological type

description: Congenital iodine deficiency syndrome associated with mental retardation, deaf-mutism, and abnormal gait. It results from severe maternal iodine deficiency and hypothyroidism during pregnancy.


Wiskott-Aldrich syndrome

description: A rare, X-linked immunodeficiency syndrome characterized by eczema, thrombocytopenia, and recurrent pyogenic infection. It is seen exclusively in young boys. Typically, IgM levels are low and IgA and IgE levels are elevated. Lymphoreticular malignancies are common.


Fanconi anemia

description: Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.


Wolcott-Rallison syndrome

description: Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure.


lethal multiple pterygium syndrome

description: Multiple pterygium syndrome lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterized by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia)of the neck, elbows, back of the knees, armpits, and fingers. Fetuses with this condition are usually not born. Some of the prenatal complications include cystic hygroma, hydrops, diaphragmatic hernia, polyhydramnios, underdevelopment of the heart and lungs, microcephaly, bone fusions, joint dislocations, spinal fusion, andbone fractures. Both X-linked and autosomal recessive inheritance have been proposed. Mutations in the CHRNG, CHRNA1, and CHRND genes have been found to cause this condition.


Bartter syndrome

description: Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.


name: severe combined immunodeficiency due to LCK deficiency

description: An extremely rare autosomal recessive condition caused by mutation(s) in the LCK gene, encoding tyrosine-protein kinase Lck. It is characterized by T-cell dysfunction.


name: Selective Antibody Deficiency with Normal Immunoglobulins

description: A rare syndrome characterized by deficiency of specific antibodies to polysaccharide antigens while the specific antibodies to protein antigens are normal.


description: A rare immunodeficiency syndrome characterized by the decrease of the CD4-positive lymphocytes below 300 per cubic millimeter in the absence of identifiable immunodeficiency causes. Patients with this syndrome are at an increased risk of opportunistic infections.


thrombocytopenia-absent radius syndrome

description: Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia.


otopalatodigital syndrome type 1

description: The mildest form of otopalatodigital syndrome spectrum disorder that is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies.


Christianson syndrome

description: A very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures.


Peters plus syndrome

description: An autosomal recessively inherited syndromic developmental defect of the eye characterized by a variable phenotype including Peters anomaly and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism.


immunodeficiency 23

description: A condition of decreased or absent presence or activity of phosphoglucomutase 3. Deficiency of this protein is associated with immunodeficiency 23.


Perinatal Drug Withdrawal

description: Withdrawal signs and symptoms that present during the perinatal period and are caused by drug use by the pregnant mother.


name: T-B+ severe combined immunodeficiency due to gamma chain deficiency

description: Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.


Juvenile Primary Fibromyalgia Syndrome

description: Chronic, diffuse, non-inflammatory musculoskeletal pain disorder associated with fatigue and sleep disturbance that can occur in childhood and adolescence. Tender points are not necessary to make the diagnosis, but if present may be less numerous than found in adults.


Perinatal Blood Aspiration Syndrome

description: Respiratory distress in the newborn due to inhalation of blood; this is an unusual event and is sometimes linked to the non passage of meconium before delivery or mothers with antepartum hemorrhage.


name: short-rib thoracic dysplasia 6 with or without polydactyly

description: A group of rare, autosomal recessive inherited disorders characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the acetabular roof. Polydactyly may or may not be present. Other abnormalities include cleft lip and palate and abnormalities of the brain, eye, heart, liver, pancreas, intestine, kidney, and genitalia.


long QT syndrome 3

description: An autosomal dominant condition caused by mutation(s) in the SCN5A gene, encoding sodium channel protein type 5 subunit alpha. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death.


mucopolysaccharidosis type 4B

description: A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta galactosidase. It is characterized by skeletal dysplasia and short stature.


trichothiodystrophy 2, photosensitive

description: An autosomal recessive subtype of trichothiodystrophy caused by mutation(s) in the ERCC3 gene, encoding general transcription and DNA repair factor IIH helicase subunit XPB.


Dyggve-Melchior-Clausen disease

description: Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias.


Fanconi anemia complementation group G

description: Fanconi anemia caused by mutations of the FANCG gene.


Carpenter syndrome

description: An extremely rare autosomal recessive syndrome characterized by premature closure of cranial sutures leading to cone-shaped head, fusion of the digits, and the presence of more digits than normal. It may be associated with heart defects, single horseshoe-shaped kidney, short stature, undescended testes, and mild mental retardation.


Ehlers-Danlos syndrome, vascular type

description: Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS.


Hutchinson-Gilford progeria syndrome

description: Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).


name: combined immunodeficiency due to ZAP70 deficiency

description: Combined immunodeficiency due to ZAP70 deficiency is a very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction.


mucopolysaccharidosis type 3C

description: A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme acetyl-CoA:alpha-glucosaminide acetyltransferase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays.


Takayasu arteritis

description: A rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm.


Recurrent Myelodysplastic Syndrome

description: The reemergence of myelodysplastic syndrome after a period of remission.


name: severe combined immunodeficiency due to DNA-PKcs deficiency

description: Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation.


synpolydactyly type 1

description: Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the HOXD13 gene.


UV-sensitive syndrome 2

description: Any UV-sensitive syndrome in which the cause of the disease is a mutation in the ERCC8 gene.


split hand-foot malformation 5

description: Split-hand/foot malformation mapped to chromosome 2q31.


Contrasexual Sexual Development

description: The development of secondary sexual characteristics contrary to pre-pubertal phenotype (feminization in boys; virilization in girls).


Secondary Myelodysplastic Syndrome

description: A myelodysplastic syndrome resulting from chemotherapy or radiation therapy for cancer or exposure to certain chemicals.


COFS syndrome

description: Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement.


Hurler-Scheie syndrome

description: Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome ; it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.


Secondary Sjögren's syndrome

description: Sjogren syndrome that occurs with another systemic autoimmune disorder, such as systemic lupus erythematosus or rheumatoid arthritis.


T-cell immunodeficiency

description: A broad classification of disorders that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective.


name: Diarrhea-associated hemolytic uremic syndrome

description: Hemolytic uremic syndrome caused by gastrointestinal infection, usually with shiga toxin-producing enterobacteria.


immunodeficiency 14

description: An autosomal dominant condition caused by mutation(s) caused by mutation(s) in the PIK3CD gene, encoding phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform. It is characterized by defects in T-cells and B-cells and recurrent sinopulmonary infections in childhood.


Gabriele de Vries syndrome

description: An autosomal dominant condition caused by mutation(s) in the YY1 gene, encoding transcriptional repressor protein YY1. It is a neurodevelopmental disorder characterized by intellectual disability, developmental delay, and variable functional and morphological abnormalities.


hypohidrotic ectodermal dysplasia

description: A genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency).


Jervell and Lange-Nielsen syndrome

description: An autosomal recessive inherited syndrome caused by mutations in the KCNE1 and KCNQ1 genes. It is characterized by congenital hearing loss and arrhythmia. It is a form of long QT syndrome.


Oncogenic osteomalacia

description: Oncogenic osteomalacia is characterized by the development of a tumor that causes the bones to be weakened. This occurs when a tumor secretes a substance called fibroblast growth factor 23 (FGF23). FGF23 inhibits the ability of the kidneys to absorb phosphate. Phosphate is important for keeping bones strong and healthy. Therefore, this disease is characterized by a softening and weakening of the bones (osteomalacia). The disease also results in multiple biochemical abnormalities including high levels of phosphate in the urine (hyperphosphaturia) and low levels of phosphate in the blood (hypophosphatemia). The majority of tumors that cause oncogenic osteomalacia are small and slow-growing. These tumors most commonly occur in the skin, muscles, or bones of the extremities or in the paranasal sinuses around the head. Most of these tumors are benign, meaning they are not associated with cancer. The exact reason that the tumors associated with oncogenic osteomalacia develop is not known. The disease is diagnosed when a person experiences clinical features such as bone weakening and hyperphosphaturia and a tumor is found by imaging of the body. Treatment of the disease consists of surgical removal of the tumor. The symptoms of the disease, including the weakening of the bones, typically resolve once the tumor is removed.


name: infantile-onset periodic fever-panniculitis-dermatosis syndrome

description: An autosomal recessive condition caused by mutation(s) in the OTULIN gene, encoding ubiquitin thioesterase otulin. It is characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy.


triploidy

description: Triploidy is a chromosome abnormality that occurs when there is an extra set of chromosomes present in each cell. Most pregnancies affected by triploidy are lost through early miscarriage. However, reports exist of some affected babies living up to five months. Those that survive are often mosaic. The signs and symptoms associated with triploidy vary but may include a variety of birth defects and an unusually small size. This condition does not run in families and is not associated with maternal or paternal age. Treatment is based on the signs and symptoms present in each person.


Opiate Withdrawal Syndrome

description: A syndrome that is defined by signs and symptoms related to abrupt or gradual stoppage of opioids use. They include strong cravings, sweating, nausea, vomiting, irritation, anxiety, muscle pain, dilated pupils and insomnia.


name: ectodermal dysplasia and immunodeficiency 2

description: A rare disorder caused by mutations in the NFKBIA gene resulting in an autosomal dominant inheritance pattern. It is characterized by abnormal development of ectodermal tissues including the skin, hair, teeth, and sweat glands and immune system deficiency. It results in dry and wrinkled skin, sparse scalp and body hair, missing teeth, and reduced ability to sweat. Patients have abnormally low levels of antibodies causing inability to fight infections.


vitamin K-antagonist embryofetopathy

description: A teratogenic disorder observed in a newborn or child of a mother who was exposed to warfarin during pregnancy. Manifestations include nasal bridge depression, nasal bones hypoplasia, microcephaly, congenital heart disorders, and brachydactyly.


Xq25 microduplication syndrome

description: An X-linked genetic condition caused by duplication of a small segment of Xq25, which may encompass the GRIA3 and STAG2 genes, encoding glutamate receptor 3 and cohesin subunit SA-2. It is characterized by intellectual disability and distinctive facial dysmorphisms.


leukocyte adhesion deficiency

description: Leukocyte adhesion deficiency (LAD) is a primary immunodeficiency characterized by defects in the leukocyte adhesion process, marked leukocytosis and recurrent infections.


Rubinstein-Taybi syndrome

description: A rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioral characteristics.


name: Myelodysplastic neoplasm of childhood with increased blasts

description: Myelodysplastic syndrome with excess blasts that occurs during childhood.


Diamond-Blackfan anemia 10

description: Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS26 gene.


name: granulomatous disease, chronic, X-linked

description: An X-linked recessive form of chronic granulomatous disease caused by mutation(s) in the CYBB gene, encoding cytochrome b-245 beta chain.


chromosome 10q23 deletion syndrome

description: 10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip), cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive.


IMAGe syndrome

description: IMAGe syndrome is characterized by the association of intrauterine growth retardation, metaphyseal dysplasia (and short limbs), adrenal hypoplasia congenita, and genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait.


Rabson-Mendenhall syndrome

description: Rabson-Mendenhall syndrome belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes).


mulibrey nanism

description: A prenatal onset growth disorder with multiorgan manifestations.


49,XXXXY syndrome

description: The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males.


partial androgen insensitivity syndrome

description: Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens.


Joubert syndrome 9

description: Any Joubert syndrome in which the cause of the disease is a mutation in the CC2D2A gene.


HELLP syndrome

description: A life-threatening condition that can potentially complicate pregnancy. It is named for 3 features of the condition: H emolysis, E levated L iver enzyme levels, and L ow P latelet levels. It typically occurs in the last 3 months of pregnancy (the third trimester) but can also start soon after delivery. A wide range of non-specific symptoms may be present in women with HELLP syndrome. Symptoms may include fatigue; malaise; fluid retention and excess weight gain; headache; nausea and vomiting; pain in the upper right or middle of the abdomen; blurry vision; and rarely, nosebleed or seizures. The cause of HELLP syndrome is not known, but certain risk factors have been associated with the condition. It is most common in women with preeclampsia or eclampsia. If not diagnosed and treated quickly, HELLP syndrome can lead to serious complications for the mother and baby.The main treatment is to deliver the baby as soon as possible, even if premature. Treatment may also include medications needed for the mother or baby, and blood transfusion for severe bleeding problems.


schwannomatosis 1

description: Schwannomatosis caused by germline mutations in the SMARCB1 gene.


multiple endocrine neoplasia

description: An autosomal dominant inherited neoplastic syndrome characterized by the development of various endocrine neoplasms and abnormalities in various anatomic sites. There are four types recognized: type 1 (MEN 1), caused by inactivation of the tumor suppressor gene MEN-1, type 2A (MEN 2A), caused by mutation of the RET gene, type 2B (MEN 2B) also caused by mutation of the RET gene, and type 4 (MEN 4) caused by mutation of the CDKN1B gene. Patients with MEN 1 may develop hyperparathyroidism and parathyroid gland adenomas, pituitary gland adenomas, pancreatic islet cell neoplasms, and carcinoid tumors. Patients with MEN 2A develop medullary thyroid carcinomas and may also develop pheochromocytomas and parathyroid gland hyperplasia. Patients with MEN 2B develop medullary thyroid carcinomas and numerous neural defects including neuromas. Patients with MEN 4 develop endocrine neoplasms, particularly in the parathyroid glands, pituitary, and pancreas.


SERKAL syndrome

description: SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterized by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs.


Shprintzen-Goldberg syndrome

description: Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.


short rib-polydactyly syndrome

description: Short rib-polydactyly syndromes are a group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial).


name: cleft lip/palate-ectodermal dysplasia syndrome

description: An ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.


Weill-Marchesani syndrome

description: Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma.


VACTERL/vater association

description: VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.


UNC13D Deficiency

description: A condition of decreased or absent presence of protein unc-13 homolog D. Deficiency of this protein is associated with familial hemophagocytic lymphohistiocytosis 3.


name: selective immunoglobulin deficiency disease

description: A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the five immunoglobulin classes. Deficiencies of immunoglobulins present variably according to isotype. Selective deficiencies may be caused by decreased or inefficient production from progenitor B cells without any corresponding decreases in the other isotypes. The clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity.


Mobius syndrome

description: Moebius syndrome is a very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies.


SUNCT syndrome

description: SUNCT syndrome (Short-lasting Unilateral Neuralgiform headache attacks with Conjunctival injection and Tearing) is a primary headache disorder characterized by unilateral trigeminal pain that occurs in association with ipsilateral cranial autonomic symptoms (conjunctival injection and tearing).


Fanconi anemia complementation group A

description: Fanconi anemia caused by mutations of the FANCA gene. FANCA gene mutations are the most common cause of Fanconi anemia. This gene provides instructions for making a protein that is involved in the Fanconi anemia (FA) pathway.


atypical hemolytic-uremic syndrome

description: A rare, genetic thrombotic microangiopathy due to dysregulation of the alternative complement pathway and characterized by the triad of hemolytic anemia, thrombocytopenia, and acute renal dysfunction.


cerebrooculofacioskeletal syndrome 1

description: Any COFS syndrome in which the cause of the disease is a mutation in the ERCC6 gene.


name: autosomal dominant deafness - onychodystrophy syndrome

description: Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges.


Omenn syndrome

description: An inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID).


Senior-Loken syndrome

description: Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy.


paraneoplastic cerebellar degeneration

description: A rare, immune-mediated disorder characterized by cerebellar degeneration due to the presence of an often undetected malignancy (usually carcinoma or lymphoma) in an anatomic site other than the cerebellum. Signs and symptoms include progressive ataxia, dysarthria, and nystagmus.


encephalopathy due to GLUT1 deficiency

description: Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation.


progressive supranuclear palsy

description: A rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia.


MERRF syndrome

description: A condition that can be caused by mutation(s) in more than one mitochondrial gene. It is characterized by myoclonic epilepsy and ragged-red fibers present on muscle biopsy.


name: myelodysplastic syndrome with excess blasts-2

description: A myelodysplastic syndrome defined by 10-19% blasts in the bone marrow or 5-19% blasts in the blood and <10% blasts in the bone marrow. Approximately 33% of cases progress to acute leukemia. The prognosis is usually poor. (WHO)


description: Myoclonic-atonic epilepsy caused by mutation(s) in the SLC6A1 gene, encoding sodium- and chloride-dependent GABA transporter 1.


Diamond-Blackfan anemia 6

description: Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL5 gene.


name: Severe Combined Immunodeficiency with Absence of T, Normal B Cells

description: An inherited, severe immunodeficiency disorder characterized by abnormalities in the development and function of T cell immunity. The peripheral T lymphocytes are absent or in very low counts. The B lymphocyte counts are normal.


ornithine translocase deficiency

description: A rare, genetic disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or coagulation defects or other chronic liver dysfunction.


Dubin-Johnson syndrome

description: Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells.