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| Entry | Name | Description | Category | Pathway |
|---|---|---|---|---|
| H01967 | Anauxetic dysplasia | Anauxetic dysplasia (AD) is a spondylometaepiphyseal dysplasia with extreme dwarfism. Mutations in the RMRP gene that codes for an RNA subunit of the RNAse MRP complex are the cause of this disease. Recently ... | Congenital malformation | |
| H01968 |
Hyper-IgE syndrome Job syndrome Buckley syndrome |
Hyper-IgE syndrome (HIES) is a complex primary immunodeficiency characterized by atopic dermatitis associated with extremely high serum IgE levels and susceptibility to infections with extracellular bacteria ... | Immune system disease | |
| H01969 |
X-linked lymphoproliferative syndrome Duncan disease |
The X-linked lymphoproliferative syndrome (XLP) is a rare, inherited immunodeficiency that is characterized by lymphohystiocytosis, hypogammaglobulinaemia and lymphomas, and that usually develops in response ... | Primary immunodeficiency | |
| H01970 | Lymphoproliferative syndrome | Lymphoproliferative syndrome (LPFS) is a severe autosomal recessive lymphoproliferative disease, associated with Epstein-Barr virus. ITK mutations were identified as the cause for this disease. Common ... | Primary immunodeficiency | |
| H01971 |
IPEX syndrome Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome |
IPEX syndrome is a fatal disorder characterized by immune dysregulation, polyendocrinopathy, enteropathy and X-linked inheritance. This disease is caused by mutations in FOXP3, a critical regulator of ... | Primary immunodeficiency | |
| H01972 |
Autoimmune polyendocrinopathy syndrome type 1 Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) |
Autoimmune polyendocrine syndrome type 1 (APS1) is a multiorgan autoimmune disorder caused by mutations in AIRE, the autoimmune regulator gene. It is characterized by multiple autoimmune endocrinopathies ... | Primary immunodeficiency | |
| H01973 |
Fertile eunuch syndrome Hypogonadotropic hypogonadism-23 without anosmia (HH23) |
Fertile eunuch syndrome is a form of idiopathic hypogonadotropic hypogonadism in males. It is characterized by eunuchoid features associated with normal or low-normal sized testes, presence of active spermatogenesis ... | Congenital malformation | |
| H01974 | Limb-girdle muscular dystrophy 2B | Limb-girdle muscular dystrophy type 2B (LGMD2B) is an autosomal recessive phenotype of dysferlinopathies, muscle disorders caused by mutations in the dysferlin gene (DYSF). Clinically, it is characterized ... | Nervous system disease; Musculoskeletal disease | |
| H01975 | Welander distal myopathy | Welander distal myopathy (WDM) is an autosomal dominant disorder with late onset predominantly affecting distal extensor muscles of the hands and the feet. The disorder is considered as the most common ... | Nervous system disease; Musculoskeletal disease | |
| H01976 | Tibial muscular dystrophy | Tibial muscular dystrophy (TMD) is a rare autosomal dominant distal myopathy with late onset. The clinical phenotype is relatively mild. Muscle weakness manifests in the patient's early 40s and remains ... | Nervous system disease; Musculoskeletal disease | |
| H01977 |
Laing distal myopathy Myopathy, distal 1 (MPD1) |
Laing distal myopathy (MPD1) is an early onset autosomal dominant distal myopathy. Selective weakness of the anterior tibial muscles is followed by weakness of the finger extensors and of selected proximal ... | Nervous system disease; Musculoskeletal disease | |
| H01978 |
Dehydrated hereditary stomatocytosis Hereditary xerocytosis |
Dehydrated hereditary stomatocytosis (DHS), also known as hereditary xerocytosis, is an autosomal dominant congenital disorder associated with erythrocyte dehydration clinically manifest as mild to moderate ... | Cardiovascular disease | |
| H01979 |
Overhydrated hereditary stomatocytosis Hereditary xerocytosis |
Overhydrated hereditary stomatocytosis (OHST), which is clinically characterized by a hemolytic anemia, is a rare, dominantly inherited disorder of red blood cells (RBCs) associated with increased membrane ... | Hematologic disease | |
| H01980 |
SCAD deficiency Short-chain acyl-CoA dehydrogenase deficiency ACADS deficiency |
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a rare mitochondrial fatty acid oxidation disorder, caused by mutations in the ACADS gene. The clinical features range from hypoglycemia and vomiting ... | Inherited metabolic disorder, Mitochondrial disease | |
| H01981 | Carnitine palmitoyltransferase I deficiency | Carnitine palmitoyltransferase 1 (CPT1) deficiency is a rare autosomal recessive disorder of mitochondrial fatty acid oxidation. CPT1 controls the import of long-chain fatty acids into the mitochondria ... | Inherited metabolic disorder, Mitochondrial disease | |
| H01982 | Carnitine palmitoyltransferase II deficiency | Carnitine palmitoyltransferase II (CPT2) deficiency is an inherited disorder of mitochondrial long-chain fatty-acid oxidation. Three distinct clinical manifestations of CPT2 deficiency have been defined ... | Inherited metabolic disorder, Mitochondrial disease | |
| H01983 | Carnitine-acylcarnitine translocase deficiency | Carnitine-acylcarnitine translocase (CACT) is located in the inner mitochondrial membrane and operates a carnitine-acylcarnitine exchange across this membrane. It is one of the key enzymes for transporting ... | Inherited metabolic disorder | |
| H01984 | Leopard syndrome | LEOPARD syndrome is an autosomal dominant developmental disorder belonging to a relatively prevalent class of inherited RAS-MAPK signalling diseases. Its main features are lentigines, electrocardiographic ... | Congenital malformation | |
| H01985 | Desmoplastic small round cell tumor | Desmoplastic small round cell tumor (DSRCT) is a rare tumor typically involving peritoneum. The concept of DSRCT as a distinct tumor has been strengthened by association with a specific chromosomal abnormality ... | Cancer | |
| H01986 | Legius syndrome | Legius syndrome (LS) is a mild neurofibromatosis type 1-like syndrome. Multiple cafe-au-lait spots and macrocephaly are present. LS is caused by germline loss-of-function SPRED1 mutations. SPRED1 is a ... | Congenital malformation | |
| H01987 |
Familial dysautonomia Riley-Day syndrome Hereditary sensory and autonomic neuropathy type 3 |
Familial dysautonomia (FD), also known as Riley day syndrome, is an autosomal recessive disorder characterized by developmental arrest in the sensory and autonomic nervous systems. Symptoms include decreased ... | Nervous system disease | |
| H01988 | Jackson-Weiss syndrome | Jackson-Weiss syndrome (JWS) is an autosomal dominant condition characterized by craniosynostosis, foot anomalies and great phenotypic variability. While mutations of multiple genes have been identified ... | Congenital malformation | |
| H01989 |
Beare-Stevenson syndrome Beare-Stevenson cutis gyrata syndrome |
Beare-Stevenson cutis gyrata syndrome (BSTVS) is an extremely rare autosomal dominant condition characterized by the furrowed skin disorder called cutis gyrata, acanthosis nigricans, craniosynostosis, ... | Congenital malformation | |
| H01990 |
Muenke syndrome Muenke craniosynostosis |
Muenke syndrome is an autosomal dominant disorder characterized by coronal suture craniosynostosis, hearing loss, developmental delay, carpal and tarsal fusions, and the presence of the mutation P250R ... | Congenital malformation | |
| H01991 | Saethre-Chotzen syndrome | Saethre-Chotzen syndrome (SCS) is an autosomal dominant disease characterized by craniosynostosis, ptosis, and limb and external ear abnormalities. Mutations in the TWIST gene have been extensively reported ... | Congenital malformation | |
| H01992 |
Craniofrontonasal syndrome Craniofrontonasal dysplasia |
Craniofrontonasal syndrome (CFNS) is an X-linked disorder caused by loss-of-function mutations of EFNB1. CFNS is characterized by body asymmetry, midline defects, skeletal abnormalities, and dermatological ... | Congenital malformation | |
| H01993 | Baller-Gerold syndrome | Baller-Gerold syndrome (BGS) is a rare autosomal recessive condition with radial aplasia and craniosynostosis. BGS is caused by mutations in the RECQL4 gene that encodes a member of the RecQ helicase family ... | Congenital malformation | |
| H01994 |
Myoclonic epilepsy of Lafora Lafora disease |
Myoclonic epilepsy of Lafora (MELF), also known as Lafora disease, is an autosomal recessive and fatal form of progressive myoclonus epilepsy. MELF is characterised by epilepsy, myoclonus, progressive ... | Nervous system disease | |
| H01995 |
Unverricht-Lundborg disease Epilepsy, progressive myoclonic 1 |
Unverricht-Lundborg disease (ULD), also known as progressive myoclonic epilepsy type 1 (EPM1), is an autosomal recessively inherited neurodegenerative disorder characterized by age of onset from 6 to 16 ... | Nervous system disease | |
| H01996 | Pyruvate dehydrogenase phosphatase deficiency | Pyruvate dehydrogenase phosphatase (PDP) deficiency has previously been confirmed only in a few cases. PDP is an enzyme which regulates the activity of the pyruvate dehydrogenase complex. It has been reported ... | Inherited metabolic disorder | |
| H01997 | Pyruvate dehydrogenase E1-alpha deficiency | Defects in the pyruvate dehydrogenase (PDH) complex are an important cause of primary lactic acidosis. It can also present as a more chronic neurodegenerative disease with extensive cerebral atrophy and ... | Inherited metabolic disorder | |
| H01998 | Pyruvate dehydrogenase E1-beta deficiency | Defects in the pyruvate dehydrogenase (PDH) complex are an important cause of primary lactic acidosis. Recently, patients with PDH deficiency attributable to mutations in PDHB (E1 beta subunit) have been ... | Inherited metabolic disorder | |
| H01999 | Pyruvate dehydrogenase E2 deficiency | Defects in the pyruvate dehydrogenase (PDH) complex is a major cause of primary lactic acidosis and neurological dysfunction in infancy. Recently, mutations in DLAT, the gene encoding dihydrolipoamide ... | Inherited metabolic disorder | |
| H02000 |
Dihydrolipoamide dehydrogenase deficiency E3 deficiency Maple syrup urine disease type III |
Dihydrolipoamide dehydrogenase (DLD) deficiency, also known as maple syrup urine disease type III, is a rare autosomal recessive disorder. DLD functions as the E3 subunit of three mitochondrial enzyme ... | Inherited metabolic disorder | |
| H02001 | Familial pseudohyperkalemia | Familial pseudohyperkalaemia (PSHK) is an autosomal dominant red cell trait characterized by increased serum potassium in whole blood stored at or below room temperature, as a result of a temperature-based ... | Hematologic disease | |
| H02002 | Cryohydrocytosis | Cryohydrocytosis (CHC) is an exceedingly rare condition which shows a mild stomatocytic haemolytic state with hyperbilirubinaemia. Red blood cells from patients with CHC have increased membrane permeability ... | Hematologic disease | |
| H02003 |
Pyruvate dehydrogenase E3-binding protein deficiency Lacticacidemia due to PDX1 deficiency |
Defects in the pyruvate dehydrogenase (PDH) complex is a major cause of primary lactic acidosis and neurological dysfunction in infancy. E3 binding protein (E3BP, formerly Protein X) mediates association ... | Inherited metabolic disorder | |
| H02004 |
Fumarase deficiency Fumaric aciduria |
Fumarase deficiency (fumaric aciduria) is a rare autosomal recessive metabolic disorder caused by deficient activity of fumarate hydratase (FH, fumarase), one of the constituent enzymes of the Krebs tricarboxylic ... | Inherited metabolic disorder | |
| H02005 |
Mitochondrial complex II deficiency Succinate dehydrogenase deficiency Succinate CoQ reductase deficiency |
Mitochondrial complex II (CII, succinate dehydrogenase complex) deficiency is a rare cause of mitochondrial respiratory chain defects. CII functions in the TCA cycle and in the mitochondrial electron transport ... | Inherited metabolic disorder, Mitochondrial disease | |
| H02006 | Alpha-ketoglutarate dehydrogenase complex deficiency | The alpha-ketoglutarate dehydrogenase complex (KGDHC) deficiency is a rare autosomal recessive disorder, most often presenting with severe encephalopathy and hyperlactatemia with neonatal onset. KGDHC ... | Inherited metabolic disorder, Mitochondrial disease |
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