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

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

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).


name: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME

description: An autosomal recessive condition caused by mutation(s) in the TTC7A gene encoding tetratricopeptide repeat protein 7A. It is characterized by multiple intestinal atresia, multi-organ impairment and associated with T- and B-cell dysfunction.


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.


Simpson-Golabi-Behmel syndrome type 1

description: Any Simpson-Golabi-Behmel syndrome in which the cause of the disease is a mutation in the GPC3 gene.


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: Autoimmune Lymphoproliferative Syndrome with Germline FAS Mutation

description: Autoimmune lymphoproliferative syndrome characterized by the presence of germline FAS mutation.


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.


name: Hereditary Tumor Syndrome Associated with Homologous Recombination Pathway Mutations

description: A hereditary neoplastic syndrome characterized by germline mutations of homologous recombination (HR) pathway genes. It is associated with an increased risk of developing various malignancies including breast, ovarian, pancreatic, and prostate carcinoma, and melanoma.


Parinaud syndrome

description: A rare syndrome affecting conjugate vertical eye movement. It is often caused by a dorsal midbrain neoplasm, commonly a pinealoma, but may also be attributable to demyelinating diseases or stroke. Clinical signs include limitation of upward gaze, light-near dissociation of the pupillary response, eyelid retraction (Collier's sign) and convergence-retraction nystagmus. Clinical course is dependent on effective treatment of underlying cause.


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.


Posterior fossa syndrome

description: A postoperative syndrome, usually presenting after midline posterior fossa tumor resection, that involves a variety of signs and symptoms including aphasia, mutism or speech disturbances, dysphagia, mobility problems, cranial nerve palsies and emotional instability.


Mullerian-Renal-Cervical Spine Syndrome

description: A condition characterized by Mullerian duct aplasia, unilateral renal dysplasia, and cervicothoracic anomalies. Other associated findings may include skeletal abnormalities (scoliosis, vertebral anomalies, rib malformations, spina bifida), and face and limb malformations (brachymesophalangy, ectrodactyly). Heart malformations may include valvular pulmonary stenosis, aortopulmonary window, atrial septal defect, and/or tetralogy of Fallot. Putative candidate genes such as HNF1B (17q12), LHX1 (17q12), SHOX (Xp22.33 and Yp11.32), TBX6 ( 16p11.2), and ITIH5 (10p14) may be implicated.


MIRAGE syndrome

description: An autosomal dominant condition caused by mutation(s) in the SAMD9 gene, encoding sterile alpha motif domain-containing protein 9A. It is a syndromic condition comprising myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital abnormalities, and enteropathy.


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.


name: Fat adherence syndrome of extraocular muscle

description: A disorder which limits movement of the eye following ocular surgery. It is caused by the inadvertent scarring down of the middle portion of the inferior oblique muscle at or near the insertion of the inferior rectus muscle. Clinical signs include hypotropia and excyclotropia. Surgical release of the incarcerated segment will usually correct the deviation of the affected eye.


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.


HAIR-AN syndrome

description: A condition characterized by hyperandrogenism, insulin resistance, and acanthosis nigricans, typically associated with obesity in teenage girls. It is considered to be a subtype of polycystic ovarian syndrome, but may occur in male individuals. Etiology is unclear, but some cases may be associated with mutations affecting the tyrosine kinase domain of the insulin receptor.


Adams-Stokes syndrome

description: An episode of sudden and transient loss of consciousness sometimes associated with seizures. It is caused by a sudden decrease of the cardiac output that results from a sudden cardiac dysrhythmia. Typically patients develop an initial pallor, followed by facial flush during recovery.


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).


Leriche syndrome

description: An atherosclerotic disorder of the peripheral vascular system affecting mostly males in their later decades. It is caused by thrombotic occlusion of the abdominal aorta just above the level of the bifurcation. Clinical signs include impotence, intermittent claudication, diminished femoral pulses and cold, pallid lower extremities. Prognosis is favorable with surgical or endovascular intervention.


mulibrey nanism

description: A prenatal onset growth disorder with multiorgan manifestations.


description: An autosomal recessive disorder caused by mutation(s) in the ADAT3 gene, encoding probable inactive tRNA-specific adenosine deaminase-like protein 3. It is characterized by a neurodevelopmental disorder with brain abnormalities, poor growth, and abnormal facies.


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.


Menopausal syndrome

description: A grouping of variable physical, vasomotor and psychological symptoms in climacteric females. Physical symptoms include: cessation of menses, headaches, fatigue, weight gain and vaginal dryness. Vasomotor symptoms typically include: palpitations, hot flashes and night sweats. Psychological symptoms may include: decrease in libido, emotional lability, difficulty concentrating and insomnia.


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.


Paraneoplastic Opsoclonus Ataxia

description: Ataxia associated with chaotic multidirectional conjugate eye movements secondary to metastatic tumors to cerebellum.  The most common malignant tumor associated with this paraneoplastic syndrome is lung carcinoma. (NCI)


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.


Gilbert syndrome

description: An autosomal recessive inherited disorder characterized by unconjugated hyperbilirubinemia, resulting in harmless intermittent jaundice.


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.


Chromosome 13q deletion syndrome

description: A rare syndrome that is characterized by the partial deletion of the long arm of chromosome 13. Signs and symptoms include low birth weight, craniofacial malformations, hands and feet malformations, and mental and psychomotor retardation.


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.


Ancell-Spiegler cylindromas

description: A rare autosomal dominant genodermatosis associated with germline mutations of the CYLD tumor suppressor gene. It is characterized by the development of multiple adnexal tumors (usually cylindromas and trichoepitheliomas), typically in the skin of the scalp. It manifests with numerous papules and/or large dome-shaped nodules on the scalp, resembling a turban.


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.


Wolfram syndrome

description: Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2).


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.


Sheehan syndrome

description: An uncommon cause of hypopituitarism seen after severe postpartum hemorrhaging. Prolonged hypovolemia leads to ischemic necrosis of the pituitary. Clinical signs typically present in the puerperium and include failure to begin lactation, fatigue, hypotension and eventual amenorrhea. Clinical course is usually mild, however extreme cases may progress to adrenal failure. Prognosis is most favorable when hormone replacement is initiated soon after symptom onset.


Bardet-Biedl syndrome

description: A ciliopathy with multisystem involvement. It is invariantly characterized by rod-cone dystrophy, and at least three additional non-ocular features such as intellectual disability, obesity, polydactyly, hypogonadism, or renal anomalies as primary manifestations. In the absence of one of these four primary clinical features, the diagnosis of BBS is made when at least two secondary features are observed, including hepatic fibrosis, diabetes mellitus, reproductive and developmental abnormalities, growth retardation, speech delays, or cardiovascular problems


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.


name: Autoimmune Lymphoproliferative Syndrome with Germline CASP8 Mutation

description: Autoimmune lymphoproliferative syndrome characterized by the presence of germline CASP8 mutation.


Ferguson-Smith tumor

description: A rare genetic neoplastic disorder with an autosomal dominant pattern of inheritance characterized by multiple, recurrent skin cancers that spontaneously resolve. It has been described almost exclusively in families of Scottish origin. It is caused by a mutation in the tumor-suppressing gene, TGFBR1, on chromosome 9. Clinical presentation is usually rapidly growing squamous cell carcinomas or keratoacanthomas that primarily localize to sun-exposed areas. Appearance of the neoplasms occurs over several weeks before receding over the course of several months if untreated. The regression of the lesions leaves pitting cicatrices but no other known sequelae.


name: syndromic X-linked intellectual disability Lubs type

description: Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown.


burning mouth syndrome

description: A condition characterized by a burning or tingling sensation on the lips, tongue, or entire mouth.


name: Immunodeficiencies Affecting Cellular and Humoral Immunity - Severe Combined Immune Deficiency

description: A group of immunodeficiency disorders that include T cell-negative, B cell-positive severe combined immunodeficiencies; and T cell-negative, B cell-negative severe combined immunodeficiencies.


XXXY and XXXXY Syndrome

description: Rare syndromes caused by chromosomal defects and characterized by the presence of multiple X chromosomes and one Y chromosome. Signs and symptoms include short stature, mental retardation, hypogonadism, undescended testes, gynecomastia, and hypotonia.


trisomy 13

description: Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation.


Eisenmenger syndrome

description: Eisenmenger syndrome (ES) is an form of pulmonary arterial hypertension (PAH) associated with unoperated congenital heart disease and is characterized by congenital heart malformations with reversed or bi-directional shunting through an intra-cardiac or intervascular (usually aorto-pulmonary) communication with the development of PAH.


Cockayne syndrome type 2

description: Cockayne syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6.


Li-Fraumeni syndrome

description: An autosomal dominant cancer predisposition syndrome caused by germline mutations of the TP53 gene. It is associated with breast carcinoma, choroid plexus carcinoma, adrenal cortex carcinoma, astrocytic tumors, medulloblastoma, soft tissue sarcoma, osteosarcoma, and leukemia.


Scheie syndrome

description: Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.


name: fragile X-associated tremor/ataxia syndrome

description: Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia.


growing teratoma syndrome

description: A condition characterized by the presence of a growing mature teratoma in a patient during or after chemotherapy for a non-seminomatous germ cell tumor, with normal serum markers for human chorionic gonadotropin and alpha fetoprotein. Complete surgical resection is the preferred treatment.


name: Ehlers-Danlos syndrome, arthrochalasia type

description: Arthrochalasia Ehlers-Danlos syndrome (aEDS) is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include severe joint hypermobility ; congenital hip dislocation; fragile, hyperextensible skin; hypotonia ; and kyphoscoliosis (kyphosis and scoliosis). EDS, arthrochalasia type is caused by changes (mutations) in the COL1A1 gene or the COL1A2 gene and is inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.


MELANOMA-PANCREATIC CANCER SYNDROME

description: An inherited condition caused by autosomal dominant mutation(s) in the CDKN2A gene, encoding cyclin-dependent kinase inhibitor 2A. The condition is characterized by an increased risk of developing melanoma and/or pancreatic carcinoma.


name: Rubinstein-Taybi syndrome due to CREBBP mutations

description: Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the CREBBP gene.


Seckel syndrome

description: A rare autosomal recessive inherited syndrome caused by mutations in the ATR gene, RBBP8 gene, CENPJ gene, CEP152 gene, CEP63 gene, NIN gene, DNA2 gene, or TRAIP gene. It is characterized by intrauterine growth retardation, dwarfism, microcephaly, mental retardation, and a "bird-headed" facial appearance.


name: Acute Encephalopathy with Biphasic Seizures and Late Reduced Diffusion

description: A clinico-radiologic syndrome consisting of acute encephalopathy characterized by biphasic seizures and altered consciousness in the acute phase, followed by restricted diffusion in the subcortical white matter on diffusion-weighted magnetic resonance imaging.


Bartsocas-Papas syndrome 1

description: A rare, inherited, popliteal pterygium syndrome characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.


Gasping syndrome

description: A syndrome in preterm neonates exposed to benzyl alcohol preservative in intravascular solutions that is characterized by unremitting gasping respirations and may include anion gap metabolic acidosis, neurologic deterioration, renal failure, convulsions, intraventricular hemorrhage, and cardiovascular collapse.


Papillon-Lefevre disease

description: Papillon-Lefevre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis.


name: Severe Combined Immunodeficiency with Absence of T and B Cells

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


name: Immune reconstitution inflammatory syndrome associated Kaposi's sarcoma

description: A syndrome that occurs in a proportion of patients with HIV infection and Kaposi sarcoma after initiation of highly active antiretroviral therapy. It is characterized by a deterioration in their clinical status, despite control of virologic and immunologic parameters.


Kluver-Bucy syndrome

description: Kluver Bucy syndrome is a rare behavioral impairment characterized by inappropriate sexual behaviors and mouthing of objects. Other signs and symptoms include diminished ability to visually recognize objects,loss of normal fear and anger responses, memory loss, distractibility, seizures, and dementia. It is associated with damage to the anterior temporal lobes of the brain. Cases have been reported in association with herpes encephalitis and head trauma. Treatment is symptomatic and may include the use of psychotropic medications.


polymyositis in scleroderma

description: A rare autoimmune disorder in which patients present with overlapping symptoms of systemic scleroderma and polymyositis or dermatomyositis.


name: pyogenic arthritis-pyoderma gangrenosum-acne syndrome

description: A rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin.


description: Decreased or absent levels of serum immunoglobulin A, with normal serum levels of immunoglobulin G and immunoglobulin M in a patient who is older than 4 years of age and in whom all other causes of hypogammaglobulinemia have been excluded. Affected individuals may be asymptomatic or have frequent infections, allergic reactions, or autoimmune disorders.


WHIM syndrome

description: An autosomal dominant immunodeficiency syndrome caused by mutation(s) in the CXCR4 gene, encoding C-X-C chemokine receptor type 4. It is characterized by neutropenia, hypogammaglobulinemia, extensive human papillomavirus (HPV) infection, and myelokathexis.


striatonigral degeneration

description: A progressive neurodegenerative disorder caused by a disruption in the connection between the striatum and the substantia nigra. It is a type of multiple system atrophy (MSA). Signs and symptoms include rigidity, instability, impaired speech, and slow movements.


description: An X-linked dominant condition caused by mutation(s) in the ZC4H2 gene, encoding zinc finger C4H2 domain-containing protein.  It is characterized by neurogenic arthrogryposis resulting from decreased fetal movements. Additional features may include global developmental delay, peripheral neuropathy, and characteristic facies.


overgrowth syndrome

description: A group of syndromes caused by genetic birth defects that may lead to the development of malignancies. It is characterized by a large body size or large body parts at birth, or excessive body growth early in childhood. Representative examples include neurofibromatosis, Beckwith-Wiedemann syndrome, and Sturge-Weber syndrome.


Predominantly Antibody Deficiencies

description: A group of primary immunodeficiency diseases caused predominantly by antibody deficiencies, comprised of: Agammaglobulinemia with absent B cells; Severe reduction in at least two serum immunoglobulins, common variable immunodeficiency (CVID) phenotype; Severe reduction in serum IgG and IgA with normal or elevated IgM, hyper-IgM; and Isotype, light chain, or functional deficiencies with generally normal numbers of B cells.


Stickler syndrome type 1

description: Stickler syndrome inherited in an autosomal dominant pattern, caused by mutation(s) in the COL2A1 gene, encoding collagen alpha-1(II) chain.


Evans syndrome

description: Evans syndrome is a rare chronic hematologic disorder characterized by the simultaneous or sequential association of autoimmune hemolytic anemia (AIHA; a disorder in which auto-antibodies are directed against red blood cells causing anemia of varying degrees of severity) with immune thrombocytopenic purpura (ITP; a coagulation disorder in which auto-antibodies are directed against platelets causing hemorrhagic episodes) and occasionally autoimmune neutropenia, in the absence of a known underlying etiology.


name: Paraneoplastic Subacute Sensory Neuronopathy

description: A sensory neuropathy caused by the effects of a distant neoplasm (usually a small cell carcinoma). It is usually caused by the production of anti-neuronal autoantibodies: anti-Hu (ANNA-1) or anti-CV2 (CRMP-5), which result in cytotoxic T-cell mediated destruction of dorsal root ganglia. It is the most common clinical presentation of paraneoplastic encephalomyelitis. Clinical signs include asymmetric paresthesia of the face, trunk and proximal extremities followed by lancinating pain, vibrioceptive and proprioceptive impairment, and muted reflexes. Clinical course usually follows a progressive neurologic deterioration which stabilizes at a level of severe, permanent disability.


Type II Refractory Celiac Disease

description: Refractory celiac disease associated with abnormal (clonal) intraepithelial lymphocyte phenotype. It is a precursor of enteropathy-associated T-cell lymphoma.


Refractory Thrombocytopenia

description: A myelodysplastic syndrome characterized by the presence of at least 10% dysplastic megakaryocytes, found within at least 30 megakaryocytes examined in the bone marrow.


cryopyrin-associated periodic syndrome

description: Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS).


name: cerebellar ataxia, intellectual disability, and dysequilibrium

description: A non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.


DICER1-related tumor predisposition

description: Pathogenic germline variation in DICER1 confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including pleuropulmonary blastoma, pulmonary cysts, thyroid gland neoplasia, ovarian tumors, and cystic nephroma. Other syndromic features such as macrocephaly have been described.


name: Myelodysplastic Syndrome, Not Otherwise Specified

description: Myelodysplastic syndrome with low blasts characterized by the absence of defining genetic abnormalities.


Neurofibromatosis aggravated

description: A condition causing exacerbation of the clinical features of neurofibromatosis.


acute motor axonal neuropathy

description: Acute motor axonal neuropathy (AMAN) is a pure motor axonal form of Guillain-Barre syndrome (GBS).


Denys-Drash Syndrome, Incomplete

description: Condition comprising congenital nephrotic syndrome with associated WT1 gene mutation with either intersex disorder or Wilms tumor.


ring chromosome 13

description: Ring chromosome 13 is a chromosomal anomaly of chromosome 13 characterized by a widely variable phenotype (ranging from mild to severe) principally characterized by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. upslanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies, and genital abnormalities. Additional features reported include behavioral problems, hearing and speech disorders, congenital heart defects, cerebral malformations, and anal atresia.


congenital myasthenic syndrome

description: Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness.


Cornelia de Lange syndrome 2

description: An X-linked inherited form of Cornelia De Lange syndrome caused by mutations in the SMC1A gene mapped to chromosome Xp11.22. Patients have a milder form of the syndrome compared to patients with the NIPBL gene mutation.


C1Q deficiency

description: C1q deficiency is a rare disorder associated with recurrent skin lesions, chronic infections, systemic lupus erythematosus (SLE) or SLE-like diseases. It has also been associated with a kidney disease known as mesangial proliferative glomerulonephritis. C1q is a complex and together with other proteins, C1r and C1s, it forms the C1 complex. This complex is important for the activation of the complement system (a group of proteins that work with the immune system). It also disposes cells that are dead. C1q deficiency presents in 2 different forms, absent C1q protein or abnormal C1q protein. Symptoms include infections (ear infections (otitis media), meningitis, urinary tract infections, oral infections); skin lesions (small blisters (vesicles), dark patches, and atrophic areas) that get worse upon light exposure; cataracts; loss of eyelashes, eyebrows, and scalp hair; blood in urine; and glomerulonephritis. About 93% of cases are associated with systemic lupus erythematosus. It can be caused by mutations in the C1QA, C1QB or C1QC genes and is inherited in an autosomal recessive pattern. Treatment depends on the symptoms. Recently, it was shown that C1q production can be restored by allogeneic hematopoietic stem cell transplantation, a procedure in which a person receives blood-forming stem cells (cells from which all blood cells develop) from a genetically similar, but not identical donor.


Bruton-type agammaglobulinemia

description: X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder, and is characterized in affected males by recurrent bacterial infections during infancy.


Turcot Syndrome Type 1

description: An autosomal dominant hereditary neoplastic syndrome caused by mutations in the PMS2, MLH1, or MSH2 genes. It is characterized by the presence of glioblastoma and the absence of familiar adenomatous polyposis. Patients often develop hereditary nonpolyposis colorectal carcinoma.


IFN-gamma Receptor 1 Deficiency

description: A condition of decreased or absent presence or activity of interferon gamma receptor 1. Deficiency of this protein is associated with immunodeficiency 27A and immunodeficiency 27B.


name: anti-glomerular basement membrane disease

description: An autoimmune disease that affects the lungs and kidneys and is characterized by pulmonary alveolar hemorrhage (bleeding in the lungs) and a kidney disease known as glomerulonephritis. Some use the term 'Goodpasture syndrome' for the findings of glomerulonephritis and pulmonary hemorrhage and the term 'Goodpasture disease' for those patients with glomerulonephritis, pulmonary hemorrhage, and anti-GBM antibodies. Currently, the preferred term for both conditions is “ anti-GBM antibody disease ”. Circulating antibodies are directed against the collagen of the part of the kidney known as the glomerular basement membrane (GBM), resulting in acute or rapidly progressive glomerulonephritis. Antibodies also attack the collagen of the air sacs of the lung (alveoli) resulting in bleeding of the lung (pulmonary hemorrhage). Symptoms may include general body discomfort or pain, bleeding from the nose and/or blood in the urine, respiratory problems, anemia, chest pain, and kidney failure. Anti-GBM disease is thought to result from an environmental insult (smoking, infections, exposure to certain drugs) in a person with genetic susceptibility, such as a specific human leukocyte antigen (HLA) type. Diagnosis is confirmed with the presence of anti-GBM antibody in the blood or in the kidney. The treatment of choice is plasmapheresis in conjunction with prednisone and cyclophosphamide.


de novo Myelodysplastic Syndrome

description: A primary myelodysplastic syndrome not associated with prior radiation or chemotherapy treatment.


fetal valproate syndrome

description: Fetal valproate syndrome (FVS), is an anticonvulsant drug-related embryofetopathy that can occur when a fetus is exposed to valproic acid (VPA), characterized by distinct facial dysmorphism, congenital anomalies and developmental delay (especially in language and communication).


name: GASTROINTESTINAL STROMAL TUMOR, FAMILIAL

description: An inherited condition caused by autosomal dominant mutation(s) in the KIT or PDGFRA genes, encoding mast/stem cell growth factor receptor Kit and platelet derived growth factor receptor alpha respectively. The condition is characterized by the occurrence of multiple gastrointestinal stromal tumors (GIST).


name: syndromic X-linked intellectual disability 5

description: X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition.


Parana hard-skin syndrome

description: A rare disorder characterized by rigid, thick skin that covers the entire body and affects movements. The movement of the chest and abdomen is severely restricted. Affected individuals develop respiratory insufficiency which may lead to death.


tempi syndrome

description: TEMPI syndrome is a rare multi-systemic disease characterized by the presence of Telangiectasias, Erythrocytosis with elevated erythropoietin levels, Monoclonal gammopathy, Perinephric-fluid collections, and Intrapulmonary shunting.


Fanconi anemia complementation group D2

description: Fanconi anemia caused by mutations of the FANCD2 gene. This gene is involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing.


Griscelli syndrome type 2

description: Griscelli syndrome type 2 (GS2) is a rare, inherited condition that affects the skin, hair, and immune system. People with GS2 have unusually light skin and silver-colored hair. They are also prone to recurrent infections and develop an immune condition called hemophagocytic lymphohistiocytosis (HLH). HLH can damage organs and tissues throughout the body, causing life-threatening complications. GS2 is caused by changes (mutations) in the RAB27A gene and is inherited in an autosomal recessive manner. The only current treatment that can extend survival is stem cell transplantation (a bone marrow transplant). Untreated, most children with GS2 do not survive past early childhood.


Diffuse Leiomyomatosis Syndrome

description: A syndrome characterized by multiple, benign nodular smooth muscle neoplasms of the esophagus, tracheobronchial tree and the genitourinary tract. Clinical signs include dysphagia with retrosternal pain, dyspnea and genital hypertrophy. There is a strong association with Alport Syndrome in patients with deletions in the type IV collagen alpha chain genes COL4A5 and COL4A6.


Opitz G/BBB syndrome

description: Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS).


Myhre syndrome

description: Myhre syndrome is characterized by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients.


name: CAR T-cell-Related Hemophagocytic Lymphohistiocytosis-like Syndrome

description: A group of rare but severe toxicities resembling hemophagocytic lymphohistiocytosis (HLH) that present in a subset of patients with cytokine release syndrome (CRS) following chimeric antigen receptor (CAR) T-cell therapy. Characteristic findings may include hyperferritinemia, hypertriglyceridemia, hypofibrinogenemia, coagulopathy, hepatic transaminitis, hyperbilirubinemia, neutropenia, elevated lactate dehydrogenase, and occasionally hemophagocytosis.


name: Myelodysplastic Syndrome/Acute Myeloid Leukemia with Myelodysplasia-Related Gene Mutations

description: Myelodysplastic syndromes/acute myeloid leukemias characterized by the presence of gene mutations that are associated with myelodysplasia.


name: CDH1-Associated Breast Carcinoma Syndrome

description: A cancer susceptibility syndrome caused by inactivating germline mutations of the CDH1 gene. It is associated with the development of lobular carcinoma of the breast. Females with mutation of the CDH1 gene have a 40% risk of developing lobular breast carcinoma.


Townes-Brocks syndrome

description: Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart.


long QT syndrome 14

description: Any long QT syndrome in which the cause of the disease is a mutation in the CALM1 gene.


acrocephalosyndactyly

description: Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations.


X-linked lymphoproliferative syndrome

description: X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV).


name: severe combined immunodeficiency due to CD70 deficiency

description: A rare primary immunodeficiency caused by homozygous CD70 mutation. It is characterized by susceptibility to Epstein-Barr virus infection, hypogammaglobulinemia, and development of B-cell non-Hodgkin lymphomas and Hodgkin lymphomas.


mitochondrial DNA depletion syndrome 4a

description: Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.


name: proteasome-associated autoinflammatory syndrome 1

description: An autosomal recessive condition caused by mutation(s) in the PSMB8 gene, encoding proteasome subunit beta type-8. It is characterized by early onset annular erythematous plaques, partial lipodystrophy, and recurrent fever.


CODAS syndrome

description: Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies.


DNA ligase IV deficiency

description: LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).


congenital myasthenic syndrome 5

description: Congenital myasthenic syndrome caused by mutation(s) in the COLQ gene, encoding acetylcholinesterase collagenic tail peptide. It is inherited in an autosomal recessive manner.


Reye syndrome

description: An acute and potentially fatal metabolic disorder characterized by cerebral edema, fatty liver and hypoglycemia. It occurs primarily in children and has been associated with the use of aspirin for the treatment of viral infections. However, it can also occur in the absence of aspirin use.


transient hypogammaglobulinemia

description: A broad classification for humoral immunodeficiencies. These disorders may be caused by inadequate activation of progenitor B cells, defective class-switching or the effects of medications. Despite the potential for increased susceptibility to infection, these disorders are self-limited with eventual normalization of serum antibody levels.


name: Childhood Myelodysplastic Syndrome with Low Blasts, Not Otherwise Specified

description: Childhood myelodysplastic syndrome with low blasts in which further characterization is not available.


Vertiginous syndrome

description: A group of disorders characterized by the sensation of constant motion or spinning despite not moving.


Sandifer syndrome

description: Sandifer syndrome is a paroxysmal dystonic movement disorder occurring in association with gastro-oesophageal reflux, and, in some cases, hiatal hernia.


thoracic outlet syndrome

description: A syndrome resulting from the compression of the blood vessels or nerves in the space between the clavicle and first rib (thoracic outlet). It is caused by car accident injuries or repetitive job or sport-related injuries. Signs and symptoms include pain in the shoulders and neck, numbness in the fingers, and weakening grip.


name: epidermodysplasia verruciformis, susceptibility to, 4

description: An autosomal recessive condition caused by mutation(s) in the RHOH gene, encoding Rho-related GTP-binding protein RhoH. It presents in childhood and is characterized by defects in T-cell development and signaling leading to increased susceptibility to certain human papilloma viruses (HPV) that cause warty skin lesions that are unresponsive to treatment.


long QT syndrome

description: A condition that is characterized by episodes of fainting (syncope) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are Romano-Ward syndrome (also known as long QT syndrome 1) and Jervell-Lange Nielsen syndrome.


Fanconi anemia complementation group N

description: Any Fanconi anemia in which the cause of the disease is a mutation in the PALB2 gene.


trichothiodystrophy

description: Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulfur containing keratins).


selective IgG subclass deficiency

description: A classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the four immunoglobulin class G (IgG) subclasses. Selective IgG1 deficiency is rare and primarily decreases the immune response to bacterial protein antigens. Selective IgG2 deficiency is the most common subclass deficiency among children and primarily leads to an inadequate response to bacterial polysaccharide antigens. Selective IgG3 deficiency is the most common subclass deficiency among adults and also primarily lowers the response to bacterial proteins. Selective IgG4 deficiency may be a clinically insignificant developmental variant, as IgG4 is a subclass that is virtually undetectable until the end of the first decade of life. Low levels of any IgG subclass will reduce the immune system's effectiveness and thus the clinical presentation of these diseases is usually recurrent infection, particularly by encapsulated bacteria.


Hermansky-Pudlak syndrome 2

description: A type of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.


name: Myelodysplastic Syndrome with Mutated TP53

description: Myelodysplastic syndrome characterized by the presence of TP53 gene mutations.


leukocyte adhesion deficiency type II

description: Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit.


name: chromosome 16p12.1 deletion syndrome, 520kb

description: A condition caused by a 520 kb deletion at 16p12.1. It is characterized by developmental delay, craniofacial dysmorphology and congenital heart defects.


substance withdrawal syndrome

description: A substance-specific organic brain syndrome that follows the discontinuation of administration or use, or reduction in intake of a substance (including alcohol, prescribed medications and recreational drugs). Syndrome manifests with diverse, often painful physical and psychological symptoms, which include but not limited to intense drug craving, anxiety, depression, insomnia, nausea, perspiration, body aches, tremors, hallucinations, and convulsions.


name: cauda equina syndrome with neurogenic bladder

description: A rare neurologic disorder caused by impingement of the nerve roots of the cauda equina secondary to disk herniation, spinal stenosis, vertebral fracture, neoplasm or infection. Clinical signs may include bladder or bowel dysfunction, paresthesia and weakness of the lower extremities. The development of neurogenic bladder implies that surgical decompression was either ineffective, delayed or not attempted.


fetal hydantoin syndrome

description: Fetal hydantoin syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to the anticonvulsant drug phenytoin, characterized by distinct craniofacial anomalies (hypertelorism and epicanthal folds, short nose and deep nasal bridge, malformed and low set ears, short neck) as well as hypoplastic distal phalanges and underdevelopment of nails of fingers and toes, prenatal and postnatal growth retardation, and neurological impairment (at a 2-3 times higher risk than that of the general population) including cognitive deficits and motor developmental delay. Less commonly, microcephaly, ocular defects, oral clefts, umbilical and inguinal hernias, hypospadias and cardiac anomalies have also been reported.


POEMS syndrome

description: POEMS syndrome is a paraneoplastic syndrome characterized by polyradiculoneuropathy (P), organomegaly (O), endocrinopathy (E), clonal plasma cell disorder (M), and skin changes (S). Other features include papilledema, extravascular volume overload, sclerotic bone lesions, thrombocytosis/erythrocytosis, and elevated VEGF levels.


trisomy X

description: Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX).


Refractory Neurofibromatosis Type 1

description: Neurofibromatosis type 1 that is resistant to treatment.


Fanconi anemia complementation group I

description: Fanconi anemia caused by mutations in the FANCI gene, encoding Fanconi anemia group I protein.


name: myelodysplastic syndrome associated with isolated del(5q)

description: A myelodysplastic syndrome characterized by a deletion between bands q31 and 33 on chromosome 5. The number of blasts in the bone marrow and blood is <5%. The bone marrow is usually hypercellular or normocellular with increased number of often hypolobated megakaryocytes. The peripheral blood shows macrocytic anemia. This syndrome occurs predominantly but not exclusively in middle age to older women. The prognosis is good and transformation to acute leukemia is rare. (WHO, 2001)


name: IL21-related infantile inflammatory bowel disease

description: An autosomal recessive subtype of common variable immunodeficiency caused by mutation(s) in the IL21 gene, encoding interleukin-21.


Alport syndrome

description: A rare renal disease characterized by glomerular nephropathy with hematuria progressing to end-stage renal disease (ESRD), frequently associated with sensorineural deafness, and occasionally with ocular anomalies.


neurofibromatosis 1

description: The most common type of neurofibromatosis.  It is characterized clinically by cutaneous and subcutaneous tumors with patches of hyperpigmentation. The hyperpigmented skin areas, are present from birth and found anywhere on the body surface.  They can vary markedly in size and color.  The dark brown areas are called cafe-au-lait spots. The multiple cutaneous and subcutaneous tumors are nerve sheath tumors, called neurofibromas.  They can develop anywhere along the peripheral nerve fibers. Neurofibromas can become quite large, causing a major disfigurement, eroding bone, and compressing various peripheral nerve structures.  Type 1 neurofibromatosis has dominant inheritance, with a gene locus on the proximal long arm of chromosome 17.


Turcot syndrome (disorder)

description: An autosomal dominant hereditary neoplastic syndrome caused by mutations in the PMS2, MLH1, MSH2, or APC genes. There are two types described, type 1, characterized by the presence of glioblastoma and often associated with hereditary nonpolyposis colorectal carcinoma, and type 2, characterized by the presence of medulloblastoma and familiar adenomatous polyposis.


orofaciodigital syndrome type 6

description: Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.


complement component 3 deficiency

description: A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the third complement component, C3. C3 deficiency may also be acquired acutely post-infection or chronically from co-morbid autoimmune disorders. If C3 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the first decade of life and are consistent with the signs of recurrent systemic infection or immune complex disease. Deficiency of serum C3 and its major cleavage product, C3b, will decrease the effective humoral immune response to encapsulated bacteria. Deficiency of C3 also impairs clearance of circulating immune complexes and therefore predisposes to rheumatic and renal disease.


Immunodeficiency 66

description: An autosomal recessive combined immunodeficiency caused by mutation(s) in the MRTFA (MKL1) gene, encoding myocardin-related transcription factor A. It is characterized by neutropenia and recurrent bacterial infections in infancy.


name: classic dopamine transporter deficiency syndrome

description: Classic Dopamine Transporter Deficiency Syndrome describes a subset of SLC6A3-related DTDS cases which present in early infancy. This disorder is usually first identified by neonatal distress and irritability, feeding difficulties, and motor developmental delay.


name: Congenital iodine deficiency syndrome of mixed type

description: Congenital iodine deficiency syndrome associated with overlapping features of both the neurological and myxedematous variants.


Multiple Vascular Disruption Syndrome

description: A rare syndrome that refers to a constellation of anomalies resulting from multiple vascular disruption.


Li-Campeau Syndrome

description: An autosomal recessive syndromic condition caused by mutations(s) in the UBR7 gene, encoding putative E3 ubiquitin-protein ligase UBR7. It is characterized by global developmental delay, impaired intellectual development, dysmorphic facial features, variable cardiac and urogenital system abnormalites, and hypothyroidism.


name: developmental defect during embryogenesis

description: A disease that has its basis in the disruption of embryonic morphogenesis.


MHC class I deficiency

description: Immunodeficiency by defective expression of HLA class 1 is a very rare, primary, genetic, immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class I expression resulting in a non-specific clinical picture of impaired immune response and susceptibility to infections.


Williams syndrome

description: A rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)


Genitourinary syndrome of menopause

description: A spectrum of lower urogenital tract signs and symptoms that are associated with the decreased production of estrogen experienced during menopause.  Findings may include genital dryness, burning or irritation, dyspareunia, decreased libido, urinary urgency, dysuria and recurrent urinary tract infections.


cerebrooculofacioskeletal syndrome 4

description: Any COFS syndrome in which the cause of the disease is a mutation in the ERCC1 gene.


Miller-Dieker lissencephaly syndrome

description: A rare syndrome caused by deletion of genetic material in the short arm of chromosome 17. It is characterized by an abnormally smooth brain with fewer folds and grooves. It results in intellectual disability, developmental delay, seizures, spasticity, hypotonia, and feeding difficulties. Affected individuals have distinctive facial features that include a prominent forehead, midface hypoplasia, small, upturned nose, low-set ears, small jaw, and thick upper lip.


name: T-B+ severe combined immunodeficiency due to JAK3 deficiency

description: Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.


lymphoproliferative syndrome 1

description: A condition of decreased or absent presence or activity of IL2-inducible t-cell kinase. Deficiency of this protein is associated with lymphoproliferative syndrome 1, an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia..


Rare Neoplastic Syndrome

description: A broad classification for uncommon disorders in which the development of neoplasms occur in association with a characteristic set of signs or symptoms. These disorders commonly have a genetic basis. The types of neoplasms themselves are not necessarily uncommon.


complex regional pain syndrome type 1

description: Complex regional pain syndrome type 1 (CRPS1) is a form of complex regional pain syndrome in which the pain is disproportionate to any known inciting event and is characterized by continuous pain, allodynia, or hyperalgesia as well as edema, coloration (changes in skin blood flow), or abnormal sudomotor activity in the region of pain. Onset of CRPS1 symptoms may occur within a few days to a month after an injury or trauma to the affected limb.


labyrinthitis

description: Inflammation of the inner ear. The cause is often not clear. It may be due to a virus, but it can also arise from bacterial infection, head injury, extreme stress, an allergy, or as a reaction to medication.


Usher syndrome type 1

description: A syndrome characterized by congenital, bilateral, severe sensorineural hearing loss, abnormalities in the vestibular system, and adolescent-onset retinitis pigmentosa.


Ogden syndrome

description: Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat.


description: The HDR syndrome is an inherited condition consisting of hypoparathyroidism, sensorineural deafness and renal disease.


name: Gray syndrome from chloramphenicol administration in newborn

description: A disorder observed in a newborn who was exposed to chloramphenicol. Manifestations include hypotension, cyanosis, cardiovascular collapse and/or death.


congenital disorder of glycosylation

description: Congenital disorder of glycosylation (CDG) is a fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). CDG is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation.


description: A form of drug hypersensitivity syndrome caused by anti-convulsants.


Low T3 Syndrome

description: Reduced serum concentration of tri-iodothyronine caused by a variety of non-thyroidal conditions in which there is no dysfunction in the thyroid gland or the hypothalamic-pituitary axis.


immunodeficiency 104

description: A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has material basis in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31.


Carney triad

description: Carney's triad is a rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas.


mucopolysaccharidosis type 3B

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


Denys-Drash syndrome

description: Denys-Drash syndrome (DDS) is a rare urogenital disorder characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma.


acquired Fanconi syndrome

description: Fanconi Syndrome caused by exposure to noxious agents.


Hypomorphic RAG1 Deficiency

description: A condition of decreased or absent presence or activity of V(D)J recombination-activating protein 1. Deficiency of this protein is associated with Omenn syndrome, severe combined immunodeficiency, b cell-negative, combined cellular and humoral immune defects with granulomas, and alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity.


postintensive care syndrome

description: New or worsening impairment in physical, cognitive, or mental health that occurs after treatment for a critical illness in an intensive care setting.


name: BRCA2-Associated Hereditary Breast and Ovarian Cancer Syndrome

description: An autosomal dominant inherited syndrome caused by deleterious mutations in the BRCA2 gene. Patients are at high risk of developing female and male breast cancer, ovarian cancer, and other cancers including prostatic cancer, pancreatic cancer, gastric cancer, and melanoma.


Simpson-Golabi-Behmel syndrome

description: Simpson-Golabi-Behmel syndrome is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.


name: central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease

description: A rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients.


acrocallosal syndrome

description: Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.


Muckle-Wells syndrome

description: An intermediate form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type).


name: chromosome 8-derived supernumerary ring/marker

description: Chromosome 8-derived supernumerary ring/marker is a rare chromosomal anomaly comprising variable parts of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome.


CLOVES syndrome

description: A syndromic disease characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, Epidermal nevi, and Skeletal anomaly.


name: Hereditary Transthyretin Amyloidosis with Polyneuropathy

description: A rare, progressive, autosomally dominant inherited peripheral neuropathy caused by mutations in the TTR gene encoding transthyretin (prealbumin).  It is characterized by deposition of amyloid fibrils in the peripheral nervous system.


Amyloid Neuropathies

description: Neuropathy caused by amyloid deposition in the peripheral nerves.


familial amyloid neuropathy

description: A rare genetic systemic disease characterized by adult onset, progressive sensorimotor and autonomic neuropathy and infiltrative cardiomyopathy. Neurological involvement usually starts with sensory loss in the extremities and progresses with motor neuropathy. Cardiomyopathy presents with rhythm abnormalities and heart failure. The disease also frequently manifests with a range of additional clinical signs and symptoms due to associated ocular, renal, central nervous system and gastrointestinal involvement.


Neonatal Graves' disease

description: Graves disease in the neonate resulting from transplacental passage of thyrotropin receptor antibody.


Astler-Coller C2 Rectal Carcinoma

description: Stage III includes: IIIA (T1-T2, N0, M0); IIIB (T3-T4, N1, M0); IIIC (Any T, N2, M0).  N1: Metastasis in 1 to 3 regional lymph nodes.  N2: Metastasis in 4 or more regional lymph nodes. (AJCC 6th ed.)


adult kidney Wilms tumor

description: Wilms tumor of the kidney which occurs in adults.


Sinonasal Mucosal Melanoma

description: Melanoma that arises from the mucosal surface of the nasal cavity and paranasal sinus.


name: Open fracture of shaft of metacarpal bone

description: A traumatic break in the diaphysis of the metacarpal bone that involves a break in the adjacent skin.


name: metaphyseal chondrodysplasia, Jansen type

description: Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia.


FHL1-related myopathy

description: A group of myopathies that includes Emery-Dreifuss muscular dystrophy (EDMD), and two allelic disorders characterized by the presence of reducing body on histopathology, namely reducing body myopathy (RBM) and scapuloperoneal myopathy.


name: myopathy, reducing body, X-linked, childhood-onset


name: myopathy, reducing body, X-linked, early-onset, severe


name: phospholipase C-activating opsin-mediated signaling pathway

category: biolink:Pathway biolink:OntologyClass biolink:BiologicalProcess biolink:Occurrent biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing biolink:PhysicalEssenceOrOccurrent

description: A phospholipase C-activating receptor G protein-coupled receptor signaling pathway that starts with an opsin being activated by a photon, and transmitting the signal through the Gq-mediated activation of phospholipase C (PLC). PLC hydrolyses phosphatidylinositol 4,5-bisphosphate (PIP2) into the second messengers inositol-1,4,5,-triphosphate (IP3) and diacylglycerol (DAG). The second messengers, including cGMP, activate channels that result in transmission of the light signal  through the synapses. Typical examples are rhabdomeric photoreceptors in the eyes of protostomes.


Grade 3 Colon Adenocarcinoma

description: A colon adenocarcinoma characterized by the presence of a malignant cellular infiltrate with less than 50% glandular formation.


name: detection of low humidity stimulus involved in sensory perception

category: biolink:BiologicalProcess biolink:Occurrent biolink:OntologyClass biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing biolink:PhysicalEssenceOrOccurrent

description: The series of events in which a low humidity stimulus is detected and converted into a molecular signal as a part of the sensory detection of low humidity.


disorder of glutamate decarboxylase

description: A disease that has its basis in the disruption of glutamate decarboxylase activity.


plant-type hypersensitive response

description: The rapid, localized death of plant cells in response to invasion by a pathogen.


name: symbiont-induced defense-related programmed cell death

description: Cell death resulting from activation of endogenous cellular processes after interaction with a symbiont (defined as the smaller of two, or more, organisms engaged in symbiosis, a close interaction encompassing mutualism through parasitism). This can be triggered by direct interaction with the organism, for example, contact with penetrating hyphae of a fungus; or an indirect interaction such as symbiont-secreted molecules.


tendon sheath lipoma

description: A benign tumor, composed of mature adipocytes, that arises within the tendon sheath.


benign synovial neoplasm

description: A benign neoplasm arising from the synovial membrane. Examples include the diffuse giant cell tumor of tendon sheath and localized giant cell tumor of tendon sheath.


name: tenosynovial giant cell tumor, localized type

description: A well-circumscribed, lobulated tumor, completely or partially covered by a fibrous capsule. It usually arises in the fingers. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. The tumor is slow-growing, usually developing over several years. Clinical presentation includes painless edema of the affected site.


name: tenosynovial giant cell tumor, diffuse type

description: A locally aggressive, diffusely infiltrating tumor, arising in the tendon sheath. It is composed of synovial-like mononuclear cells, hemosiderin-laden macrophages, foam cells, and inflammatory cells. Multinucleated osteoclast-like giant cells are usually present, although in a minority of cases they may be absent or rare. It predominantly affects young adults. Symptoms include joint swelling, pain, and joint effusion.


intestinal hypomagnesemia 1

description: Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications.


cellular response to tumor cell

description: Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a tumor cell.


Functioning Lung Carcinoid Tumor

description: A lung neuroendocrine tumor that is associated with carcinoid syndrome.


name: hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

description: Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement.


description: Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterized by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established.


inborn organic aciduria

description: An inherited disorder that affects the metabolism of any acidic compound containing carbon in a covalent linkage.


3-hydroxyisobutyric aciduria

description: 3 hydroxyisobutyric aciduria is characterized by ketoacidotic episodes, cerebral anomalies and facial dysmorphism. It is an organic aciduria that involves valine metabolism. Thirteen cases have been described in the literature so far. Transmission is thought to be autosomal recessive.


isovaleric acidemia

description: Isovaleric acidemia (IVA) is an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase, that has wide clinical variability and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis (brought on by prolonged fasting, an increased intake of protein-rich food or infections) and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients have also been reported.


maple syrup urine disease

description: An autosomal recessive inherited disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of metabolites in the body fluids. The name of the disease derives from the sweet odor of the urine in infants, reminiscent of maple syrup. Signs and symptoms usually appear in infancy and include lethargy and developmental delays. If untreated, it may lead to seizures, coma, and death.


glutaric acidemia type 3

description: Glutaryl-CoA oxidase deficiency is a peroxisomal disorder leading to glutaric aciduria. The prevalence is unknown. There is no distinctive phenotype associated with this disorder and one of the reported cases was asymptomatic. Transmission appears to be autosomal recessive.


description: 3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.


3-methylglutaconic aciduria type 3

description: 3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterized by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria.


beta-ketothiolase deficiency

description: Beta-ketothiolase (T2) deficiency is a rare organic aciduria affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy or toddlerhood and usually ceasing by adolescence.


3-methylglutaconic aciduria type 4

description: 3-methylglutaconic aciduria (3-MGA) type IV, or unclassified 3-MGA, is a clinically heterogeneous disorder characterized by increased 3-methylglutaconic acid excretion in individuals that cannot be classified as having one of the other forms of 3-MGA (3-MGA I, II or III).


name: vitamin B12-responsive methylmalonic acidemia, type cblDv2


name: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome

description: Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the SERAC1 gene.


methylmalonic aciduria, cblB type

description: An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAB gene, encoding cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial.


name: methylmalonate semialdehyde dehydrogenase deficiency


maple syrup urine disease type 1A

description: A maple syrup urine disease caused by mutations in BCKDHA.


name: methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency

description: Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic.


name: thiamine-responsive maple syrup urine disease

description: Thiamine-responsive maple syrup urine disease (thiamine-responsive MSUD) is a less severe variant of MSUD that manifests with a phenotype similar to intermediate MSUD but that responds positively to treatment with thiamine.


multiple carboxylase deficiency

description: Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay.


malonic aciduria

description: Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD).


name: methylmalonic aciduria and homocystinuria

description: An inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ).


name: vitamin B12-unresponsive methylmalonic acidemia type mut0

description: Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.


pyruvate dehydrogenase E3 deficiency

description: Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease.


methylmalonic aciduria, cblA type

description: An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAA gene, encoding MMAA protein.


name: methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

description: Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut-.


name: combined malonic and methylmalonic acidemia

description: Combined malonic and methylmalonic acidemia is a rare inborn error of metabolism characterized by elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. CMAMMA presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline.


name: methylmalonic acidemia with homocystinuria, type cblX


name: methylmalonic aciduria and homocystinuria type cblD

description: A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations.


3-methylglutaconic aciduria type 5

description: A syndrome characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.


maple syrup urine disease type 1B

description: A maple syrup urine disease caused by mutations in BCKDHB.


intermediate maple syrup urine disease

description: Intermediate maple syrup urine disease (intermediate MSUD) is a milder form of MSUD characterized by persistently raised branched-chain amino acids (BCAAs) and ketoacids, but fewer or no acute episodes of decompensation.


name: methylmalonic aciduria and homocystinuria type cblF

description: A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. The disorder is caused by mutations in the LMBRD1 gene (6q13) and is transmitted in an autosomal recessive manner.


name: methylmalonic aciduria and homocystinuria type cblC

description: A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. cblC type methylmalonic acidemia with homocystinuria is caused by mutations in the MMACHC gene (1p36.3) and is transmitted in an autosomal recessive manner.


intermittent maple syrup urine disease

description: Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated.


name: 3-methylcrotonyl-CoA carboxylase 1 deficiency

description: Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC1 gene.


3-methylglutaconic aciduria type 1

description: 3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.


holocarboxylase synthetase deficiency

description: A life-threatening early-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma.


name: 3-methylcrotonyl-CoA carboxylase 2 deficiency

description: Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC2 gene.


name: methylmalonic acidemia due to transcobalamin receptor defect

description: Methylmalonic aciduria due to transcobalamin receptor defect is a rare metabolite absorption and transport disorder characterized by a moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however, screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported.


biotinidase deficiency

description: Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.


classic maple syrup urine disease

description: Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated.


name: methylmalonic acidemia with homocystinuria, type cblJ

description: An autosomal recessive form of combined methylmalonic aciduria and homocystinuria, caused by mutation(s) in the ABCD4 gene, encoding lysosomal cobalamin transporter ABCD4.


glutaryl-CoA dehydrogenase deficiency

description: Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder.


maple syrup urine disease type 2

description: A maple syrup urine disease caused by mutations in DBT.


name: vitamin B12-unresponsive methylmalonic acidemia type mut-

description: Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.


3-hydroxy-3-methylglutaric aciduria

description: 3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae.


name: vitamin B12-responsive methylmalonic acidemia

description: Vitamin B12-responsive methylmalonic acidemia (MA) is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: cblA, cblB and cblD-variant 2 (cblDv2).


name: microcephaly-thin corpus callosum-intellectual disability syndrome

description: Microcephaly-thin corpus callosum-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated.


name: Unresectable Pleural Sarcomatoid Mesothelioma

description: Pleural sarcomatoid mesothelioma that is not amenable to surgical resection.


Pleural Desmoplastic Mesothelioma

description: Malignant mesothelioma that arises from the pleura. It is characterized by the presence of dense collagenized stroma occupying at least 50% of the tumor. The malignant cells are arranged in a vague storiform pattern.


name: Unresectable Peritoneal Epithelioid Mesothelioma

description: Peritoneal epithelioid mesothelioma that is not amenable to surgical resection.


name: Unresectable Paratesticular Sarcomatoid Mesothelioma

description: Paratesticular sarcomatoid mesothelioma that is not amenable to surgical resection.


Paratesticular Epithelioid Mesothelioma

description: A rare malignant mesothelioma arising from the tunica vaginalis. It is characterized by the presence of cells with epithelioid morphology. The epithelioid cells usually have eosinophilic cytoplasm, bland nuclei, and form tubulopapillary, microglandular, or sheet-like patterns.


Desmoplastic mesothelioma

description: A malignant neoplasm arising from mesothelial cells. It is characterized by the presence of a dense collagenous tissue and atypical neoplastic cells. Sarcomatoid features, collagenous necrosis, and infiltration of muscle and adipose tissue may be present. It occurs in the pleura and less commonly in the peritoneum.


Peritoneal Epithelioid Mesothelioma

description: Malignant mesothelioma that arises from the peritoneum. It is characterized by the presence of cells with epithelioid morphology. The epithelioid cells usually have eosinophilic cytoplasm, bland nuclei, and form tubulopapillary, microglandular, or sheet-like patterns.


malignant biphasic mesothelioma

description: A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic epithelioid cells and sarcomatoid features.


name: Unresectable Paratesticular Epithelioid Mesothelioma

description: Paratesticular epithelioid mesothelioma that is not amenable to surgical resection.


Peritoneal Biphasic Mesothelioma

description: Malignant mesothelioma that arises from the peritoneum. It is characterized by the presence of epithelioid and sarcomatoid components, with each component representing at least 10% of the tumor.


name: Unresectable Pleural Biphasic Mesothelioma

description: Pleural biphasic mesothelioma that is not amenable to surgical resection.