poikiloderma with neutropenia

description: A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections. It has material basis in mutation in the C16ORF57 gene on chromosome 16q13.


lymphatic malformation 1

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

description: Any hereditary lymphedema in which the cause of the disease is a mutation in the FLT4 gene.


capillary infantile hemangioma

description: Capillary hemangiomas are benign, highly proliferative lesions involving aberrant localized growth of capillary endothelium. They are the most common tumor of infancy, occurring in up to 10% of all births. Hemangiomas tend to appear shortly after birth and show rapid neonatal growth for up to 12 months characterized by endothelial hypercellularity and increased numbers of mast cells. This phase is followed by slow involution at a rate of about 10% per year and replacement by fibrofatty stroma. Hemangiomas are classified as distinct from vascular malformations, in that the latter are present from birth, tend to grow with the individual, do not regress, and show normal rates of endothelial cell turnover.


name: autosomal dominant nonsyndromic hearing loss 25

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SLC17A8 gene.


von Hippel-Lindau disease

description: A familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma.


Chuvash polycythemia

description: Chuvash erythrocytosis is a rare, genetic, congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death.


dilated cardiomyopathy 1W

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the VCL gene.


hypertrophic cardiomyopathy 15

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the VCL gene.


Angelman syndrome

description: A neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features.


name: mitochondrial complex III deficiency nuclear type 7

description: Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC2 gene.


name: familial juvenile hyperuricemic nephropathy type 1

description: A rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age.


leukocyte adhesion deficiency 3

description: Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD characterized by both severe bacterial infections and a severe bleeding disorder.


name: syndromic X-linked intellectual disability Nascimento type

description: X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures.


hyperlipidemia, combined, 1

description: An inherited susceptibility or predisposition to developing familial combined hyperlipidemia, in which the cause of the disease is a mutation in the USF1 gene.


name: mitochondrial complex III deficiency nuclear type 9

description: Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC3 gene.


name: uveal coloboma-cleft lip and palate-intellectual disability

description: Uveal coloboma-cleft lip and palate-intellectual disability is characterized by coloboma of the iris, bilateral cleft lip and palate, and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant.


Usher syndrome type 1C

description: A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding harmonin on chromosome 11p15. It is inherited in an autosomal recessive manner.


name: autosomal recessive nonsyndromic hearing loss 18A

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the USH1C gene.


TH-deficient dopa-responsive dystonia

description: Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.


immunodeficiency 35

description: Any hereditary predisposition to infections in which the cause of the disease is a mutation in the TYK2 gene.


retinitis pigmentosa 33

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the SNRNP200 gene.


name: neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy


Olmsted syndrome 1

description: Any Olmsted syndrome in which the cause of the disease is a variation in the TRPV3 gene.


name: isolated focal non-epidermolytic palmoplantar keratoderma


Bardet-Biedl syndrome 22

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT74 gene.


name: autosomal recessive agammaglobulinemia 1


allergic rhinitis, susceptibility to

description: An inherited susceptibility or predisposition to developing allergic rhinitis.


immunodeficiency 67

description: An immunodeficiency associated with increased susceptibility to invasive infections caused by pyogenic bacteria.


name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7

description: Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the ISPD gene.


name: autosomal recessive limb-girdle muscular dystrophy type 2U

description: Any autosomal recessive limb-girdle muscular dystrophy in which the cause of the disease is a mutation in the ISPD gene.


name: intellectual disability, X-linked, syndromic, Bain type

description: An X-linked dominant condition caused by mutation(s) in the HNRNPH2 gene, encoding heterogeneous nuclear ribonucleoprotein H2. It is characterized by delayed psychomotor development, intellectual disability with behavioral abnormalities, and dysmorphic facial features in females.


ovarian dysgenesis 3

description: Any 46 XX gonadal dysgenesis in which the cause of the disease is a mutation in the PSMC3IP gene.


atrial septal defect 2

description: Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA4 gene.


ventricular septal defect 1

description: Any ventricular septal defect in which the cause of the disease is a mutation in the GATA4 gene.


tetralogy of fallot

description: Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.


atrioventricular septal defect 4

description: Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA4 gene.


name: testicular anomalies with or without congenital heart disease


description: Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.


name: epilepsy, juvenile myoclonic, susceptibility to, 10


name: isolated growth hormone deficiency type IB

description: An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has material basis in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively.


premature ovarian failure 9

description: Any primary ovarian failure in which the cause of the disease is a mutation in the HFM1 gene.


alkaptonuria

description: A metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy).


description: X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus.


name: autosomal dominant nonsyndromic hearing loss 68

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the HOMER2 gene.


cataract 5 multiple types

description: Any cataract (disease) in which the cause of the disease is a mutation in the HSF4 gene.


familial prostate carcinoma

description: Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma.


name: bilateral microtia-deafness-cleft palate syndrome

description: This syndrome is characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.


Hurler syndrome

description: Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.


Hurler-Scheie syndrome

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


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.


MEHMO syndrome

description: MEHMO syndrome is characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localized to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.


name: amyloidosis, primary localized cutaneous, 2


name: recurrent infections associated with rare immunoglobulin isotypes deficiency

description: Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG subclass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections.


cocoon syndrome

description: Fetal encasement syndrome is a rare, lethal developmental defect during embryogenesis characterized by severe fetal malformations, including craniofacial dysmorphism (abnormal cyst in the cranial region, hypoplastic eyeballs, two orifices in the nasal region separated by a nasal septum, abnormal orifice replacing the mouth), omphalocele and immotile, hypoplastic limbs encased under an abnormal, transparent, membrane-like skin. Additional features include absence of adnexal structures of the skin on the outer aspect of the limbs, as well as underdeveloped skeletal muscles and bones. Association with tetralogy of Fallot, horse-shoe kidneys and diaphragm and lung lobulation defects is reported.


name: multiple sclerosis, susceptibility to, 3


inflammatory bowel disease 13

description: Any inflammatory bowel disease in which the cause of the disease is a mutation in the ABCB1 gene.


name: progressive familial intrahepatic cholestasis type 3

description: Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood.


name: cholestasis, intrahepatic, of pregnancy, 3


name: low phospholipid associated cholelithiasis

description: Low phospholipid associated cholelithiasis is a rare genetic hepatic disease characterized by cholesterol gallstones and intrahepatic stones developing before the age of 40 years.


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.


head and neck squamous cell carcinoma

description: A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands.


immunodeficiency 27A

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


name: autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency

description: A genetic variant of Mendelian susceptibility to mycobacterial disease characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM).


immunodeficiency 28

description: Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IFNGR2 gene.


name: microcephaly, epilepsy, and diabetes syndrome 1


intellectual disability, X-linked 1

description: An X-linked dominant condition caused by mutation(s) in the IQSEC2 gene, encoding IQ motif and SEC7 domain-containing protein 2. It is characterized by substantially impaired intellectual functioning and behavioral abnormalities.


Netherton syndrome

description: Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations.


name: facial paresis, hereditary congenital, 3

description: Any congenital hereditary facial paralysis-variable hearing loss syndrome in which the cause of the disease is a mutation in the HOXB1 gene.


congenital vertical talus

description: Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus.


urocanic aciduria

description: Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date.


candidiasis, familial, 9

description: Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17RC gene.


name: autosomal recessive nonsyndromic hearing loss 42

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ILDR1 gene.


focal segmental glomerulosclerosis 5

description: Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the INF2 gene.


name: Charcot-Marie-Tooth disease dominant intermediate E

description: Autosomal dominant intermediate Charcot-Marie-Tooth disease type E is characterized by the association of Charcot-Marie-Tooth disease (hereditary peripheral neuropathy) with nephropathy. So far, around 15 cases have been described. All patients had proteinuria (with or without microhematuria) at onset and some patients presented with nephrotic syndrome. In the majority of cases, pathological studies revealed glomerulosclerosis. The mode of transmission is unknown.


Bardet-Biedl syndrome 19

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT27 gene.


brachydactyly type A1

description: Brachydactyly type A1 (BDA1) is a congenital malformation characterized by apparent shortness (or absence) of the middle phalanges of all digits, and occasional fusion with the terminal phalanges.


acrocapitofemoral dysplasia

description: Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.


name: surfactant metabolism dysfunction, pulmonary, 5

description: Any hereditary pulmonary alveolar proteinosis in which the cause of the disease is a mutation in the CSF2RB gene.


osteogenesis imperfecta type 5

description: Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI).


idiopathic aplastic anemia

description: Aplastic anemia without a known cause.


name: growth delay due to insulin-like growth factor type 1 deficiency

description: Growth delay due to insulin-like growth factor I deficiency is characterized by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.


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: severe combined immunodeficiency due to IKK2 deficiency

description: Severe combined immunodeficiency due to IKK2 deficiency is a rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present.


type 1 diabetes mellitus 10

description: An inherited susceptibility or predisposition to developing type 1 diabetes mellitus in which the cause of the disease is a mutation in the IL2RA gene.


name: hypogonadotropic hypogonadism 24 without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FSHB gene.


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: congenital disorder of glycosylation with defective fucosylation 1


glycogen storage disease Ib

description: A type of glycogenosis due to G6P deficiency.


galactose epimerase deficiency

description: Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism.


galactokinase deficiency

description: Galactokinase deficiency is a rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice.


name: thrombocytopenia, X-linked, with or without dyserythropoietic anemia

description: An X-linked condition caused by mutation(s) in the GATA1 gene, encoding erythroid transcription factor. It is characterized by thrombocytopenia, as well as abnormal platelet function and morphology. Dyserythropoietic anemia of variable severity may also be present.


description: Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia.


name: X-linked dyserythropoetic anemia with abnormal platelets and neutropenia


Aarskog-Scott syndrome, X-linked

description: Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.


congenital afibrinogenemia

description: Familial afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circulating fibrinogen.


familial dysfibrinogenemia

description: Familial dysfibrinogenemia is a coagulation disorder characterized by a bleeding tendency due to a functional anomaly of circulating fibrinogen.


severe primary trimethylaminuria

description: Any trimethylaminuria in which the cause of the disease is a mutation in the FMO3 gene.


name: posterior column ataxia-retinitis pigmentosa syndrome

description: Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa.


name: blepharophimosis, ptosis, and epicanthus inversus syndrome

description: Blepharophimosis, Ptosis, and Epicanthus Inversus syndrome (BPES) is an ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type I) or without premature ovarian failure (POF) (type II).


name: hereditary hyperferritinemia with congenital cataracts

description: Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload.


neuroferritinopathy

description: Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA) characterized by progressive chorea or dystonia and subtle cognitive deficits.


hemochromatosis type 5

description: Any hereditary hemochromatosis in which the cause of the disease is a mutation in the FTH1 gene.


name: severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome


name: glomerulopathy with fibronectin deposits 2

description: Any fibronectin glomerulopathy in which the cause of the disease is a mutation in the FN1 gene.


name: spondylometaphyseal dysplasia, 'corner fracture' type

description: A type of skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies).


name: autosomal dominant hypophosphatemic rickets

description: Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia.


name: tumoral calcinosis, hyperphosphatemic, familial, 2


alveolar rhabdomyosarcoma

description: A rapidly growing malignant mesenchymal neoplasm. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma resembling an alveolar growth pattern. The tumor usually presents in the extremities.


Bardet-Biedl syndrome 15

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the WDPCP gene.


name: heart defect - tongue hamartoma - polysyndactyly syndrome


name: developmental and epileptic encephalopathy, 37

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FRRS1L gene.


name: hemolytic anemia due to glucophosphate isomerase deficiency

description: Glucosephosphate isomerase (GPI) deficiency is an erythroenzymopathy characterized by chronic nonspherocytic hemolytic anemia.


giant axonal neuropathy 1

description: Giant axonal neuropathy (GAN) is a degenerative disorder that is characterized by a progressive motor and sensitive peripheral and central nervous system neuropathy.


atrial septal defect 9

description: Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA6 gene.


atrioventricular septal defect 5

description: Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA6 gene.


name: pancreatic hypoplasia-diabetes-congenital heart disease syndrome

description: A rare, syndromic diabetes mellitus characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis).


porokeratosis 9, multiple types

description: Any porokeratosis (disease) in which the cause of the disease is a mutation in the FDPS gene.


fucosidosis

description: Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis.


exudative vitreoretinopathy 1

description: An autosomal dominant condition caused by mutation(s) in the FZD4 gene, encoding frizzled-4. It is characterized by a variable phenotype resulting from incomplete development of the retinal vasculature. Mutation(s) in the FZD4 gene, also cause a form of retinopathy of prematurity.


diaphragmatic hernia 3

description: Any congenital diaphragmatic hernia in which the cause of the disease is a mutation in the ZFPM2 gene.


name: autoimmune disease, susceptibility to, 1

description: Any autoimmune disease in which the cause of the disease is a mutation in the FOXD3 gene.


description: Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.


Rett syndrome, congenital variant

description: An autosomal dominant condition caused by mutation(s) in the FOXG1 gene, encoding forkhead box protein G1. It is the most severe form of Rett syndrome, and typically manifests within the first three months of life.


Axenfeld-Rieger syndrome type 3

description: Any Axenfeld-Rieger syndrome in which the cause of the disease is a mutation in the FOXC1 gene.


anterior segment dysgenesis 3

description: An iridogoniodysgenesis that results from alterations in the forkhead transcription factor gene (FOXC1)


Birt-Hogg-Dube syndrome 1

description: Any Birt-Hogg-Dube (BHD) syndrome in which the cause of the disease is a variation in the FLCN gene.


familial spontaneous pneumothorax

description: Familial spontaneous pneumothorax is a rare, genetic pulmonary disease characterized by the uni- or bilateral accumulation of air in the pleural cavity in persons with a positive family history and no underlying lung disease or previous chest trauma. Patients typically present dyspnea associated with acute onset of sharp and steady pleutiric chest pain of variable severity (which resolves within 24h even though pneumothorax is still present). Reflex tachycardia and/or respiratory or circulatory compromise may be observed. Other syndromes (e.g. Birt-Hogg-Dube, Marfan or Ehlers-Danlos syndromes) may be associated.


myofibrillar myopathy 5

description: Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases.


name: distal myopathy with posterior leg and anterior hand involvement

description: Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs.


hypertrophic cardiomyopathy 26

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the FLNC gene.


name: T-cell immunodeficiency, congenital alopecia, and nail dystrophy

description: A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has material basis in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12.


name: intellectual disability-severe speech delay-mild dysmorphism syndrome

description: Intellectual disability-severe speech delay-mild dysmorphism syndrome, also known as intellectual disability with language impairment and with or without autistic features, is adisorder characterized by global developmental delay with moderate to severe speech delay thataffects expressive speech. Most patients have difficulty articulating words. Common signs and symptoms include broad forehead, downslanting palpebral fissures, short nose with broad tip, head appearing too large for the body, frontal hair upsweep, and bulging digit pads anddelatyed gross motor skills. Some patients have autistic features and/or behavioral problems. Congenital malformations may be associated. All reported cases have occurred de novo (without any cases in the family). It is caused by alterations (mutations) in the caused by heterozygous mutation in the FOXP1 gene.


congenital primary aphakia

description: Congenital primary aphakia (CPA) is characterized by an absence of the lens. The prevalence is unknown. CPA can be associated with variable secondary ocular defects (including aplasia/dysplasia of the anterior segment of the eye, microphthalmia, and in some cases absence of the iris, retinal dysplasia, or sclerocornea). CPA results from early developmental arrest, around the 4th-5th week of embryogenesis, which prevents the formation of any lens structure. Mutations in the FOXE3 gene were identified in three affected siblings born to consanguineous parents.


cataract 34 multiple types

description: Any cataract (disease) in which the cause of the disease is a mutation in the FOXE3 gene.


name: aortic aneurysm, familial thoracic 11, susceptibility to


name: neurodegenerative syndrome due to cerebral folate transport deficiency

description: A reduced concentration of 5-methyltetrahydrofolate(2-) in the cerebrospinal fluid (CSF). 5-methyltetrahydrofolate is the active folate metabolite.


name: alveolar capillary dysplasia with misalignment of pulmonary veins

description: A rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension.


BNAR syndrome

description: BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome.


trigonocephaly 2

description: Any isolated trigonocephaly in which the cause of the disease is a mutation in the FREM1 gene.


retinitis pigmentosa 30

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the FSCN2 gene.


hereditary spherocytosis type 5

description: Any hereditary spherocytosis in which the cause of the disease is a mutation in the EPB42 gene.


Fanconi anemia complementation group I

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


macular degeneration, age-related, 3

description: Any age-related macular degeneration in which the cause of the disease is a mutation in the FBLN5 gene.


cutis laxa, autosomal dominant 2

description: Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the FBLN5 gene.


name: cutis laxa, autosomal recessive, type 1A

description: An autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32.


syndactyly type 8

description: Syndactyly type 8 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral or bilateral fusion of the fourth and fifth metacarpals with no other associated abnomalities. Patients present shortened fourth and fifth metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the fifth finger in parallel with the other fingers.


name: hypogonadotropic hypogonadism 20 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF17 gene.


name: spondylocostal dysostosis 4, autosomal recessive

description: Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the HES7 gene.


name: tall stature-intellectual disability-renal anomalies syndrome


name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4

description: Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.


name: muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4


name: autosomal recessive limb-girdle muscular dystrophy type 2M

description: A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases.


dilated cardiomyopathy 1X

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the FKTN gene.


lymphedema-distichiasis syndrome

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


scalp-ear-nipple syndrome

description: Scalp-ear-nipple syndrome is characterized by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant.


protoporphyria, erythropoietic, 1

description: Erythropoietic protoporphyria caused by a compound heterozygous or homozygous mutation in the gene encoding ferrochelatase (FECH) on chromosome 18q21.


name: intellectual disability, autosomal recessive 51

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the HNMT gene.


histidinemia

description: Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions.


Andersen-Tawil syndrome

description: Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.


short QT syndrome type 3

description: Any short QT syndrome in which the cause of the disease is a mutation in the KCNJ2 gene.


atrial fibrillation, familial, 9

description: Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNJ2 gene.


congenital diarrhea 6

description: Any congenital diarrhea in which the cause of the disease is a mutation in the GUCY2C gene.


name: intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency

description: Any meconium ileus in which the cause of the disease is a mutation in the GUCY2C gene.


name: porphyria due to ALA dehydratase deficiency

description: Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria characterized by neuro-visceral attacks without cutaneous manifestations.


hypomyelinating leukodystrophy 13

description: Any leukodystrophy in which the cause of the disease is a mutation in the HIKESHI gene.


Hermansky-Pudlak syndrome 6

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


renal cysts and diabetes syndrome

description: Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome.


Lesch-Nyhan syndrome

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


name: hypoxanthine guanine phosphoribosyltransferase partial deficiency

description: Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout.


name: developmental delay with autism spectrum disorder and gait instability

description: Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behavior patterns are highly variable and range from sociable and affectionate to autistic behavior.


age related macular degeneration 1

description: An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1.


primary hyperoxaluria type 3

description: Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis.


name: autosomal dominant limb-girdle muscular dystrophy type 1G

description: Autosomal dominant limb-girdle muscular dystrophy (LGMD1G) is a mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed.


Hermansky-Pudlak syndrome 4

description: Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS4 gene.


TCF12-related craniosynostosis

description: Any syndromic craniosynostosis in which the cause of the disease is a mutation in the TCF12 gene.


oculoauricular syndrome

description: Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy), and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisure, abnormal bridge connecting the crus of the helix and the anthelix, narrow external acoustic meatus, and lobule aplasia).


hemochromatosis type 1

description: Hemochromatosis type 1 (classic) is the most common form of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. Due to its incidence (1/200-1/1000), it is not considered as a rare disease, unlike the other subforms of the disease


name: microvascular complications of diabetes, susceptibility to, 7

description: Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the HFE gene.


severe congenital neutropenia

description: A congenital disorder characterized by chronic neutropenia with absolute neutrophil count less than 500/uL and arrest of neutrophil maturation at the promyelocyte/myelocyte level. It is inherited in autosomal recessive or autosomal dominant patterns. Sporadic cases have also been reported. It is usually diagnosed in the first year of life. Patients present with frequent and life-threatening infections.


name: congenital dyserythropoietic anemia type 4

description: Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth.


nemaline myopathy 8

description: An autosomal recessive myopathy caused by mutations in the KLHL40 gene, encoding Kelch-like protein 40. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, and typically involves proximal muscles, the face, bulbar and respiratory muscles.


HSD10 mitochondrial disease

description: A rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy.


retinitis pigmentosa 69

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the KIZ gene.


hyperlipoproteinemia, type 1D

description: Any familial hyperlipidemia in which the cause of the disease is a mutation in the GPIHBP1 gene.


2q37 microdeletion syndrome

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


Wiedemann-Steiner syndrome

description: Wiedemann-Steiner syndrome is a rare genetic condition characterized by distinctive facial features, hairy elbows, short stature, and intellectual disability. This condition is caused by changes (mutations) in the KMT2A gene (also known as the MLL gene). It is inherited in an autosomal dominant manner. Most cases result from new (de novo) mutations that occur only in an egg or sperm cell, or just after conception. Treatment is symptomatic and supportive and may include special education classes and speech and occupational therapies aimed at increasing motor functioning and language.


dystonia 28, childhood-onset

description: Any dystonic disorder in which the cause of the disease is a mutation in the KMT2B gene.


name: intellectual disability, autosomal dominant 51


name: X-linked dominant chondrodysplasia, Chassaing-Lacombe type

description: A rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.


classic Hodgkin lymphoma

description: Classical Hodgkin lymphoma (CHL) is a B-cell lymphoma characterized histologically by the presence of large mononuclear Hodgkin cells and multinucleated Reed-Sternberg (HRS) cells.


name: maturity-onset diabetes of the young type 7

description: Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the KLF11 gene.


nemaline myopathy 9

description: Any nemaline myopathy in which the cause of the disease is a mutation in the KLHL41 gene.


Tay-Sachs disease

description: GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency.


Sandhoff disease

description: Sandhoff disease is a lysosomal storage disorder from the GM2 gangliosidosis family and is characterized by central nervous system degeneration.


hereditary coproporphyria

description: A form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions.


description: 3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism, reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute epidodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death.


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.


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: maturity-onset diabetes of the young type 3

description: Monogenic diabetes caused by inactivating mutation(s) in the gene HNF1A, encoding hepatocyte nuclear factor 1-alpha.


type 1 diabetes mellitus 20

description: An inherited susceptibility or predisposition to developing type 1 diabetes mellitus in which the cause of the disease is a mutation in the HNF1A gene.


name: autosomal recessive nonsyndromic hearing loss 39

description: An autosomal recessive disorder caused by mutations in the HGF gene, encoding hepatocyte growth factor receptor. It is characterized by profound deafness.


name: hypogonadotropic hypogonadism 8 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1R gene.


central precocious puberty 1

description: Any central precocious puberty in which the cause of the disease is a mutation in the KISS1R gene.


Heinz body anemia

description: Anemia characterized by abnormal intracellular inclusions, composed of denatured hemoglobin, found on the membrane of red blood cells.


alpha thalassemia spectrum

description: An inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles.


hemoglobin H disease

description: Alpha thalassemia caused by variation in three of the four copies of the alpha hemoglobin genes (e.g., large deletion in HBA1 and HBA2 genes in trans with a variant in either HBA1 or HBA2).


name: spastic paraplegia, optic atropy, and neuropathy

description: A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. SPOAN syndrome is caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2.


hemochromatosis type 2B

description: Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HAMP gene.


alopecia universalis congenita

description: The most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body.


atrichia with papular lesions

description: Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities.


name: neurodevelopmental disorder with hypotonia, seizures, and absent language


name: immunodeficiency-centromeric instability-facial anomalies syndrome 4

description: Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the HELLS gene.


cutaneous porphyria

description: Congenital erythropoietic porphyria, or Günther disease, is a form of erythropoietic porphyria characterized by very severe and mutilating photodermatosis.


thyroid cancer, nonmedullary, 5

description: Any thyroid cancer, nonmedullary in which the cause of the disease is a mutation in the HABP2 gene.


mucopolysaccharidosis type 3C

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


retinitis pigmentosa 73

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the HGSNAT gene.


name: hypogonadotropic hypogonadism 6 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF8 gene.


description: X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present.


description: X-linked scapuloperoneal muscular dystrophy (X-linked SPMD) is a skeletal muscle disease characterized by late onset, co-occurrence of scapular and peroneal muscle weakness, and scapular winging.


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


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


Charcot-Marie-Tooth disease type 4J

description: Charcot-Marie-Tooth disease, type 4J (CMT4J) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases.


amyotrophic lateral sclerosis type 11

description: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the FIG4 gene.


Yunis-Varon syndrome

description: Yunis-Varon syndrome is a rare condition that affects many different parts of the body. Signs and symptoms are generally present from birth and may include underdeveloped or absent collarbones (clavicles); large fontanelles; characteristic facial features; hypotonia (reduced muscle tone) and/or abnormalities of the fingers and toes. Affected people may also experience feeding difficulties, breathing problems, brain malformations, heart defects, skeletal abnormalities, developmental delay, and/or intellectual disability. Yunis-Varon syndrome is caused by changes (mutations) in the FIG4 gene and isinherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.


name: bilateral parasagittal parieto-occipital polymicrogyria


fragile X syndrome

description: A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression of the fragile X mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities.


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.


premature ovarian failure 1

description: Any primary ovarian failure in which the cause of the disease is a mutation in the FMR1 gene.


ovarian hyperstimulation syndrome

description: A complication of ovulation induction in infertility treatment. It is graded by the severity of symptoms which include ovary enlargement, multiple ovarian follicles; ovarian cysts; ascites; and generalized edema. The full-blown syndrome may lead to renal failure, respiratory distress, and even death. Increased capillary permeability is caused by the vasoactive substances, such as vascular endothelial growth factors, secreted by the overly-stimulated ovaries.


name: mitochondrial complex I deficiency, nuclear type 1


name: autosomal recessive severe congenital neutropenia due to G6PC3 deficiency

description: Severe congenital neutropenia inherited in an autosomal recessive pattern and caused by mutation(s) in the G6PC3 gene, encoding glucose-6-phosphatase 3. It is characterized by cardiac abnormalities, hepatosplenomegaly, intermittent thrombocytopenia and a prominent superficial venous pattern.


familial temporal lobe epilepsy 8

description: A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has material basis in heterozygous mutation in the GAL gene on chromosome 11q13.


Krabbe disease

description: A lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms.


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


Laron syndrome

description: Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration.


name: short stature due to partial GHR deficiency

description: Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone.


short stature due to GHSR deficiency

description: Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported.


nephronophthisis 7

description: Any nephronophthisis in which the cause of the disease is a mutation in the GLIS2 gene.


amyotrophic lateral sclerosis type 6

description: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the FUS gene.


tremor, hereditary essential, 4

description: Any essential tremor in which the cause of the disease is a mutation in the FUS gene.


name: glycogen storage disease due to glucose-6-phosphatase deficiency type IA

description: Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency.


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


name: tumoral calcinosis, hyperphosphatemic, familial, 1


sudden infant death syndrome

description: Unexpected death in infancy which remains unexplained following autopsy, review of the medical history, and investigation of the death circumstances and death scene.


name: Ehlers-Danlos syndrome, kyphoscoliotic type, 2

description: A form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment.


name: lethal polymalformative syndrome, Boissel type


name: thrombocytopenia, anemia, and myelofibrosis


name: combined oxidative phosphorylation defect type 15

description: Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported.


fleck corneal dystrophy

description: Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity.


Bamforth-Lazarus syndrome

description: Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases.


thyroid cancer, nonmedullary, 4

description: Any thyroid cancer, nonmedullary in which the cause of the disease is a mutation in the FOXE1 gene.


Friedreich ataxia 1

description: Any Friedreich ataxia in which the cause of the disease is a mutation in the FXN gene.


nystagmus 1, congenital, X-linked

description: Any congenital nystagmus in which the cause of the disease is a mutation in the FRMD7 gene.


fumaric aciduria

description: Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment.


C3 glomerulonephritis

description: Glomerulonephritis characterized by C3 accumulation with little or absent deposition of immunoglobulin, in the absence of ultrastructural electron-dense transformation seen in dense deposit disease.


premature ovarian failure 6

description: Any primary ovarian failure in which the cause of the disease is a mutation in the FIGLA gene.


renal hypodysplasia/aplasia 2

description: Any renal agenesis in which the cause of the disease is a mutation in the FGF20 gene.


osteogenesis imperfecta type 11

description: Any osteogenesis imperfecta in which the cause of the disease is a mutation in the FKBP10 gene.


Bruck syndrome 1

description: Any Bruck syndrome in which the cause of the disease is a mutation in the FKBP10 gene.


name: hypogonadotropic hypogonadism 21 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FLRT3 gene.


Pfeiffer syndrome

description: Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations.


name: hypogonadotropic hypogonadism 2 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene.


osteoglophonic dwarfism

description: Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.


trigonocephaly 1

description: Any isolated trigonocephaly in which the cause of the disease is a mutation in the FGFR1 gene.


encephalocraniocutaneous lipomatosis

description: A rare neoplastic syndrome characterized by the presence of unilateral lipomas of the cranium, face and neck, and ipsilateral cerebral malformations.


Jackson-Weiss syndrome

description: Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients.


autosomal dominant ichthyosis vulgaris

description: Ichthyosis vulgaris is a common skin disorder passed down through families that leads to dry, scaly skin. It often begins in early childhood. Treatment may include heavy duty moisturizers which contain chemicals that help the skin to shed normally, including lactic acid, salicylic acid, and urea. Ichthyosis vulgaris can be a nuisance, but it rarely affects overall health. The condition usually disappears during adulthood, but may return in later years. This condition is inherited in an autosomal dominant pattern.


dermatitis, atopic, 2

description: An inherited susceptibility or predisposition to developing atopic dermatitis in which the cause of the disease is a mutation in the FLG gene.


name: heterotopia, periventricular, X-linked dominant


otopalatodigital syndrome type 1

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


otopalatodigital syndrome type 2

description: A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival.


frontometaphyseal dysplasia 1

description: Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the FLNA gene.


Melnick-Needles syndrome

description: A otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.


name: intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked

description: Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic). When intestinal pseudo-obstruction occurs by itself, it is called primary or idiopathic (unknown cause) intestinal pseudo-obstruction. The disorder can also develop as a complication of another medical condition; in these cases, it is called secondary intestinal pseudo-obstruction. Individuals with this condition have symptoms that resemble those of an intestinal blockage (obstruction) but without any obstruction. It may be acute or chronic and is characterized by the presence of dilation of the bowel on imaging. The causes may be unknown or due to alterations (mutations) in the FLNA gene, other genes or are secondary to other conditions. It may be inherited in some cases. Intestinal pseudoobstruction neuronal chronic idiopathic X-linked is caused by alterations (mutations) in the FLNA gene which is located in the X chromosome. There is no specific treatment but several medications and procedures may be used to treat the symptoms.


FG syndrome 2

description: Any FG syndrome in which the cause of the disease is a mutation in the FLNA gene.


name: terminal osseous dysplasia-pigmentary defects syndrome

description: A syndrome characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.


cardiac valvular dysplasia, X-linked

description: An X-linked condition caused by mutations(s) in the FLNA gene on chromosome Xq28, encoding filamin A. It is characterized by multivalvular dysplasia and regurgitation, which can lead to lethal heart failure in some patients.


name: intellectual disability, autosomal recessive 47

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FMN2 gene.


atelosteogenesis type I

description: Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.


atelosteogenesis type III

description: A skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.


Boomerang dysplasia

description: Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing.


Larsen syndrome

description: Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate.


spondylocarpotarsal synostosis syndrome

description: Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism.


name: immunodeficiency due to ficolin3 deficiency


Crouzon syndrome

description: Crouzon disease is characterized by craniosynostosis and facial hypoplasia.


Apert syndrome

description: Apert syndrome (AS) is a frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly.


Beare-Stevenson cutis gyrata syndrome

description: A severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy.


name: familial scaphocephaly syndrome, McGillivray type

description: Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability.


LADD syndrome 1

description: Any LADD syndrome in which the cause of the disease is a variation in the FGFR2 gene.


name: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis


Saethre-Chotzen syndrome

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


multiple synostoses syndrome 3

description: Any multiple synostoses syndrome in which the cause of the disease is a mutation in the FGF9 gene.


hemophilia A

description: The most common form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency.


Fanconi anemia complementation group E

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


Fanconi anemia complementation group L

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


name: ALPHA-FETOPROTEIN, HEREDITARY PERSISTENCE OF


septooptic dysplasia

description: Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects.


split hand-foot malformation 3

description: The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate.


Marfan syndrome

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


name: ectopia lentis 1, isolated, autosomal dominant

description: Any isolated ectopia lentis in which the cause of the disease is a mutation in the FBN1 gene.


Weill-Marchesani syndrome 2, dominant

description: A Weill-Marchesani syndrome characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome.


MASS syndrome

description: A genetic disorder of connective tissue caused by mutations in the FBN1 gene. Connective tissue is the material between the cells of the body that gives tissues form and strength. Symptoms include mitral valve prolapse, nearsightedness, borderline and non-progressive aortic enlargement, and skin and skeletal findings that overlap with those seen in Marfan syndrome. Treatment is based on the individuals symptoms.


stiff skin syndrome

description: A rare syndrome characterized by hard, thick skin, usually on the entire body. The thickening of the skin can limit joint mobility and causes joints to be stuck in a bent position (flexion contractures). The onset of signs and symptoms can range from presenting at birth through childhood. Other signs and symptoms may include excessive hair growth (hypertrichosis), loss of body fat (lipodystrophy), scoliosis, muscle weakness, slow growth, and short stature. Weakness or paralysis of the eye muscles have also been reported. Stiff skin syndrome is caused by mutations (changes) in the FBN1 gene and is inherited in an autosomal dominant manner. Diagnosis is based on a clinical evaluation that is consistent with stiff skin syndrome, and the diagnosis can be confirmed with genetic testing. Treatment is based on the symptoms of each individual and may include physical therapy.


geleophysic dysplasia 2

description: Any geleophysic dysplasia in which the cause of the disease is a mutation in the FBN1 gene.


Acromicric dysplasia

description: A rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands.


name: progeroid and marfanoid aspect-lipodystrophy syndrome


Fanconi anemia complementation group B

description: Fanconi anemia caused by mutations of the FANCB gene. This gene encodes the protein for complementation group B.


Fanconi anemia complementation group F

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


name: autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity


Kindler syndrome

description: Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB), besides simplex, junctional and dystrophic forms, and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes.


name: alopecia-intellectual disability syndrome 1


Charcot-Marie-Tooth disease type 4H

description: Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy


Achondroplasia

description: Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.


name: Crouzon syndrome-acanthosis nigricans syndrome

description: Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN).


thanatophoric dysplasia type 1

description: Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly.


thanatophoric dysplasia type 2

description: Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs.


hypochondroplasia

description: Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.


cervical cancer

description: A primary or metastatic malignant neoplasm involving the cervix.


name: camptodactyly-tall stature-scoliosis-hearing loss syndrome

description: Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.


nevus, epidermal

description: A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed.


Muenke syndrome

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


seborrheic keratosis

description: A common benign skin neoplasm usually affecting older individuals. The lesions usually are multiple and arise in the face, chest, and shoulders. They appear as black or brown, slightly elevated skin lesions.


name: severe achondroplasia-developmental delay-acanthosis nigricans syndrome

description: A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).


name: hypogonadotropic hypogonadism 22 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FEZF1 gene.


name: developmental and epileptic encephalopathy, 47

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FGF12 gene.


name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5


name: muscular dystrophy-dystroglycanopathy type B5

description: A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3.


name: autosomal recessive limb-girdle muscular dystrophy type 2I

description: A subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported.


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.


Fanconi anemia complementation group J

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


name: intellectual disability, autosomal recessive 45

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FBXO31 gene.


parkinsonian-pyramidal syndrome

description: A Parkinson's disease that has material basis in mutation in the FBXO7 gene on chromosome 22q12.3.


name: deafness with labyrinthine aplasia, microtia, and microdontia

description: Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome.


aplasia of lacrimal and salivary glands

description: Aplasia of the lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation.


Hermansky-Pudlak syndrome 1

description: Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS1 gene.


name: hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency


name: Charcot-Marie-Tooth disease axonal type 2F

description: Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop.


name: neuronopathy, distal hereditary motor, type 2B

description: Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB1 gene.


name: radioulnar synostosis with amegakaryocytic thrombocytopenia 1

description: Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the HOXA11 gene.


human HOXA1 syndromes

description: Human HOXA1 syndromes is characterized by deafness, central hypoventilation, congenital ocular paralysis and developmental retardation. Cardiac anomalies and paralysis of the vocal chords may also be present. Six cases have been reported so far. Transmission is thought to be autosomal recessive.


name: non-spherocytic hemolytic anemia due to hexokinase deficiency

description: Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) is a very rare conditionmainly characterized by severe, chronic hemolysis, beginning in infancy. Approximately 20 cases of this condition have been described to date. Signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency but anemia is generally more severe. Some affected individuals reportedly have had various abnormalities in addition to NSHA including multiple malformations, panmyelopathy, and latent diabetes.Itcan be caused by mutations in the HK1 gene and is inherited in an autosomal recessive manner. Treatment may include red cell transfusions for those with severe anemia.


Charcot-Marie-Tooth disease type 4G

description: Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies.


name: maturity-onset diabetes of the young type 2

description: Monogenic diabetes caused by inactivating mutation(s) in the GCK gene, encoding glucokinase. Heterozygous GCK mutations may manifest as mild hyperglycemia, which is not progressive, and usually requires no treatment. Homozygous GCK mutations result in permanent neonatal diabetes.


name: hyperinsulinism due to glucokinase deficiency

description: Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism, caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae.


permanent neonatal diabetes mellitus 1

description: A rare autosomal recessive disorder characterized by severe hyperglycemia which requires insulin treatment soon after birth. The disorder results from a complete lack of glucokinase; total absence of basal insulin release was observed as well.


name: maturity-onset diabetes of the young type 1

description: Monogenic diabetes caused by inactivating mutation(s) in the gene HNF4A, encoding hepatocyte nuclear factor 4-alpha.


name: Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young

description: Any Fanconi syndrome in which the cause of the disease is a mutation in the HNF4A gene.


torsion dystonia 2

description: Primary dystonia DYT2 type is characterized by segmental dystonia that manifests with involuntary posturing affecting predominantly the feet.


tyrosinemia type III

description: Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterized by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate.


hawkinsinuria

description: Hawkinsinuria is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine.


hypercholanemia, familial 1

description: A very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent.


hydrolethalus syndrome 1

description: Any hydrolethalus syndrome in which the cause of the disease is a mutation in the HYLS1 gene.


name: polyglucosan body myopathy 1 with or without immunodeficiency

description: A rare, genetic, glycogen storage disorder characterized by polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive, usually dilated, cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and autoinflammation, presenting with recurrent bacterial infections, have also been reported.


name: neuronopathy, distal hereditary motor, type 2C

description: Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB3 gene.


name: neuronopathy, distal hereditary motor, type 2A

description: Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB8 gene.


name: Charcot-Marie-Tooth disease axonal type 2L

description: Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow.


synpolydactyly type 1

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


brachydactyly type D

description: A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has material basis in mutation in the HOXD13 gene on chromosome 2q31.1.


syndactyly type 5

description: Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits.


brachydactyly-syndactyly syndrome

description: Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common.


brachydactyly type E1

description: Any brachydactyly type E in which the cause of the disease is a mutation in the HOXD13 gene.


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.


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

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


Hermansky-Pudlak syndrome 3

description: Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS3 gene.


hand-foot-genital syndrome

description: Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects.


Guttmacher syndrome

description: Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias.


primary ciliary dyskinesia 5

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the HYDIN gene.


cranioectodermal dysplasia 1

description: Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT122 gene.


Hermansky-Pudlak syndrome 5

description: Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS5 gene.


name: developmental and epileptic encephalopathy, 54


mucopolysaccharidosis type 2

description: A lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement.


name: Parkinson disease 13, autosomal dominant, susceptibility to

description: Any young-onset Parkinson disease in which the cause of the disease is a mutation in the HTRA2 gene.


ectodermal dysplasia 9, hair/nail type

description: Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the HOXC13 gene.


name: Parkinson disease 18, autosomal dominant, susceptibility to

description: Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the EIF4G1 gene.


inflammatory bowel disease 28

description: Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RA gene.


inflammatory bowel disease 25

description: Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RB gene.


name: short-rib thoracic dysplasia 16 with or without polydactyly


age related macular degeneration 7

description: Any age-related macular degeneration in which the cause of the disease is a mutation in the HTRA1 gene.


CARASIL syndrome

description: CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia.


name: cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2

description: Any CADASIL in which the cause of the disease is a mutation in the HTRA1 gene.


hypomyelinating leukodystrophy 5

description: Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit.


name: corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

description: A developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.


acute intermittent porphyria

description: Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias. It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations.


name: macrocephaly, dysmorphic facies, and psychomotor retardation


Gamstorp-Wohlfart syndrome

description: A rare peripheral neuropathy characterized by slowly progressive axonal, motor greater than sensory polyneuropathy combined with neuromytonia (including spontaneous muscular activity at rest (myokymia), impaired muscle relaxation (pseudomyotonia), and contractures of hands and feet) and neuromyotonic or myokymic discharges on needle EMG. It presents with distal lower limb weakness with gait impairment, muscle stiffness, fasciculations and cramps in hands and legs worsened by cold, decreased to absent tendon reflexes, intrinsic hand muscle atrophy and, variably, mild distal sensory impairment.


name: short-rib thoracic dysplasia 9 with or without polydactyly

description: An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13.


Senior-Loken syndrome 5

description: Any Senior-Loken syndrome in which the cause of the disease is a mutation in the IQCB1 gene.


name: coronary artery disease, autosomal dominant, 1

description: Any coronary artery disease in which the cause of the disease is a mutation in the MEF2A gene.


name: asthma-related traits, susceptibility to, 5

description: Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the IRAK3 gene.


name: cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies


Glanzmann thrombasthenia 1

description: A bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia


platelet-type bleeding disorder 16

description: An inherited blood coagulation disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has material basis in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32.


name: junctional epidermolysis bullosa with pyloric atresia

description: Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract.


renal hypodysplasia/aplasia 1

description: The presence of developmental dysplasia of the kidney.


name: systemic lupus erythematosus, susceptibility to, 6


name: spondylocostal dysostosis 2, autosomal recessive


hypertrophic cardiomyopathy 17

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the JPH2 gene.


Huntington disease-like 2

description: Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes characterized by a triad of movement, psychiatric, and cognitive abnormalities.


description: Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination.


name: hemolytic anemia due to adenylate kinase deficiency

description: Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment.


reticular dysgenesis

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


name: blepharophimosis - intellectual disability syndrome, SBBYS type

description: Blepharophimosis-intellectual disability syndrome, SBBYS type is characterized by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested.