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| Entry | Name | Description | Category | Pathway |
|---|---|---|---|---|
| H02007 |
GRACILE syndrome Fellman syndrome Finnish lethal neonatal metabolic syndrome |
GRACILE (growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death) syndrome is a rare autosomal recessive disease characterized by fetal growth retardation, lactic acidosis ... | Inherited metabolic disorder, Mitochondrial disease | |
| H02008 |
Galactose-1P uridylyltransferase deficiency Classic galactosemia Galactosemia type I |
Galactosemia type I results from mutations in GALT encoding the galactose-1-phosphate uridylyltransferase. It is the most commonly detected clinically severe form of galactosemia. Patients may develop ... | Inherited metabolic disorder | |
| H02009 |
Galactokinase deficiency Galactosemia II |
Galactokinase deficiency is an autosomal recessive disorder, caused by mutations in the GALK1 gene. The main symptom of this disease is early onset cataracts. Galactose accumulation in the lens of the ... | Inherited metabolic disorder | |
| H02010 |
Galactose epimerase deficiency Galactosemia III |
Galactose epimerase deficiency is the least understood form of galactosemia. Originally, galactose epimerase deficiency was identified as a biochemical oddity that impacted only red and white blood cells ... | Inherited metabolic disorder | |
| H02011 | Familial juvenile hyperuricemic nephropathy | Familial juvenile hyperuricemic nephropathy (FJHN) is an autosomal dominant disorder, which is characterized by elevated serum uric acid concentrations due to a low fractional excretion of uric acid (FEUA) ... | Inherited metabolic disorder; Urinary system disease | |
| H02012 | Medullary cystic kidney disease | Medullary cystic kidney disease (MCKD) is an autosomal dominant tubulointerstitial nephropathy that causes renal salt wasting and end-stage kidney disease (ESKD). Two types of MCKD are recognized (MCKD1 ... | Congenital malformation | |
| H02013 | Glycerol kinase deficiency | Glycerol kinase deficiency is an X-linked recessive disorder. There are two types, an isolated form and a complex form (chromosome Xp21 deletion syndrome). Isolated glycerol kinase deficiency results from ... | Inherited metabolic disorder | |
| H02014 | Ataxia-telangiectasia-like syndrome | Ataxia-telangiectasia-like disorder (ATLD) is a very rare autosomal recessive disorder, caused by mutations in Mre11 gene. Mre11 is a member of the Mre11/Rad50/Nbs1 (MRN) protein complex, that acts as ... | Immune system disease; Nervous system disease | |
| H02015 | LIG4 syndrome | LIG4 syndrome is an extremely rare autosomal recessive condition caused by mutations in the LIG4 gene which encodes DNA ligase IV. The clinical phenotype closely resembles that of Nijmegen breakage syndrome ... | Immune system disease | |
| H02016 |
Tay-Sachs disease GM2 gangliosidoses type I |
Tay-Sachs disease is an autosomal recessive lysosomal storage disorder caused by mutations in HEXA that encodes beta hexosaminidase subunit alpha. In the absence of hexosaminidase A, GM2 ganglioside cannot ... | Inherited metabolic disorder, Lysosomal disease | |
| H02017 |
Sandhoff disease GM2 gangliosidoses type II |
Sandhoff disease is an autosomal recessive lysosomal storage disorder caused by mutations in HEXB that encodes beta-hexosaminidase subunit beta. Sandhoff disease is characterized by combined deficiency ... | Inherited metabolic disorder, Lysosomal disease | |
| H02018 | Central precocious puberty | Central precocious puberty is caused by early maturation of the hypothalamic-pituitary-gonadal axis. Recently, kisspeptin receptor (KISS1R) and its ligand, kisspeptin, were described as an excitatory neuroregulator ... | Endocrine and metabolic disease | |
| H02019 |
Familial male-limited precocious puberty Familial testotoxicosis Gonadotropin-independent familial sexual precocity |
Familial male-limited precocious puberty, also known as familial testotoxicosis is a form of isosexual precocious puberty in boys in which testosterone levels are elevated independent of changes in luteinizing ... | Endocrine and metabolic disease | |
| H02020 | Aromatase deficiency | Aromatase deficiency is a rare autosomal recessive syndrome, caused by mutations in CYP19A1 gene. Aromatase, encoded by the CYP19A1, catalyses the biosynthesis of estrogens. Due to estrogen deficiency ... | Endocrine and metabolic disease | |
| H02021 | Chediak-Higashi syndrome | Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized by partial skin and ocular albinism, increased susceptibility to infections, and progressive neuropathy. Clinical reports ... | Primary immunodeficiency | |
| H02022 | Griscelli syndrome | Griscelli syndrome (GS) is a rare autosomal recessive disorder caused by mutations in either the myosin VA, RAB27A, or melanophilin genes. GS1 associates characteristic albinism with a severe primary neurological ... | Primary immunodeficiency | |
| H02023 | Baraitser-Winter syndrome | Baraitser-Winter malformation syndrome (BWMS) is characterized by short stature, hypertelorism, bilateral ptosis, ocular coloboma, metopic ridging and agyria/pachygyria. Recently, it has been reported ... | Congenital malformation | |
| H02024 | Neutrophil specific granule deficiency | Neutrophil-specific granule deficiency (SGD) is a rare disorder characterized by recurrent pyogenic infections, defective neutrophil chemotaxis and bactericidal activity, and lack of neutrophil secondary ... | Primary immunodeficiency | |
| H02025 | Myeloperoxidase deficiency | Myeloperoxidase deficiency is the most common inherited disorder of neutrophils. Heterogeneous mutations in the gene encoding myeloperoxidase have been described. | Primary immunodeficiency | |
| H02026 | Familial hypocalciuric hypercalcemia | Familial hypocalciuric hypercalcemia (HHC), an autosomal dominant disorder, is characterized by lifelong elevations of serum calcium concentrations with low urinary calcium excretion. HHC is a genetically ... | Inherited metabolic disorder | |
| H02027 | Male hypogonadism | Hypogonadism in male patients is characterized by a deficiency in testosterone - a critical hormone for sexual, cognitive, and body function and development. Low testosterone levels may be due to testicular ... | Endocrine and metabolic disease | |
| H02028 | Filariasis | Lymphatic filariasis, onchocerciasis, mansonelliasis and loiasis caused by parasitic roundworms (nematodes) called filariae are diseases of tropical and subtropical countries causing high morbidity. | Parasitic infectious disease | |
| H02029 | Mycobacterium avium complex (MAC) pulmonary disease | Nontuberculous mycobacteria (NTM), including Mycobacterium avium complex (MAC), cause opportunistic chronic pulmonary infections. MAC includes M. avium, M. intracellulare, and eight other species, including ... | Bacterial infectious disease | |
| H02030 | Neonatal hyperparathyroidism | Neonatal hyperparathyroidism (NHPT) is a disorder of calcium homeostasis that is associated with missense mutations of the calcium-sensing receptor. NHPT is characterized by marked elevation in serum calcium ... | Endocrine and metabolic disease | |
| H02031 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a rare disorder characterized by progressive degeneration of muscle, brain, motor neurons and bone. Some cases ... | Nervous system disease; Musculoskeletal disease | |
| H02032 | Entomophthoramycosis | The class Zygomycetes is divided into two orders, Mucorales and Entomophthorales. These two orders produce dramatically different infections. Genera from the order Mucorales cause an angioinvasive infection ... | Fungal infectious disease | |
| H02033 | Mucormycosis | The class Zygomycetes is divided into two orders, Mucorales and Entomophthorales. These two orders produce dramatically different infections. Genera from the order Mucorales cause an angioinvasive infection ... | Fungal infectious disease | |
| H02034 | Central hypothyroidism and testicular enlargement | Central hypothyroidism and testicular enlargement is a novel X-linked disorder in which loss-of-function mutations in IGSF1 are observed. It causes central hypothyroidism, testicular enlargement, and variable ... | Endocrine and metabolic disease | |
| H02035 | Isolated growth hormone deficiency | Isolated growth hormone deficiency (IGHD) is conditions associated with childhood growth failure due to lack of growth hormone (GH) action, and not necessarily associated with other pituitary hormone deficiencies ... | Endocrine and metabolic disease | |
| H02036 | Combined pituitary hormone deficiency | Combined pituitary hormone deficiency (CPHD) is a rare disorder that is characterized by the impaired production of growth hormone (GH) and one or more other pituitary hormones. Currently reported genes ... | Endocrine and metabolic disease | |
| H02037 |
Laron syndrome Growth hormone insensitivity syndrome Pituitary dwarfism II |
Laron syndrome is a rare autosomal recessive disease characterized by insensitivity to growth hormone (GH). The disorder is caused by mutations of the gene encoding the GH receptor (GHR), leading to defective ... | Endocrine and metabolic disease | |
| H02038 | X-linked panhypopituitarism | X-linked panhypopituitarism is a rare genetic condition characterized by hypopituitarism, delayed pubertal development, and short stature. Duplications and deletions of Xq26-27 including SOX3 have been ... | Endocrine and metabolic disease | |
| H02039 | Kowarski syndrome | Kowarski syndrome is short stature associated with bioinactive growth hormone (GH). It is clinically characterized by normal or slightly increased GH secretion, pathologically low IGF-I levels, and normal ... | Endocrine and metabolic disease | |
| H02040 | Insulin-like growth factor I deficiency | Insulin-like growth factor I (IGF1) deficiency due to mutations in IGF1 gene is an autosomal recessive disorder, characterized by severe prenatal and postnatal growth failure, sensorineural deafness, and ... | Endocrine and metabolic disease | |
| H02041 | Myopia | Myopia is the most common ocular disorder worldwide, and high myopia in particular is one of the leading causes of blindness. Nonsyndromic, high myopia is highly heritable, and to date a few causative ... | Nervous system disease | |
| H02042 | Familial expansile osteolysis | Familial expansile osteolysis (FEO) is a rare autosomal dominant disorder causing bone dysplasia. It is characterized by increased osteoclast activity, medullary expansion, and hearing and dental problems ... | Musculoskeletal disease | |
| H02043 | Capillary malformation-arteriovenous malformation | Capillary malformation-arteriovenous malformation (CMAVM) is an autosomal dominant disorder associated with heterozygous mutations in RASA1. CM-AVM is with multiple CMs on the skin, sometimes in association ... | Congenital malformation | |
| H02044 |
Cutaneous and mucosal venous malformation Mucocutaneous venous malformation |
The multiple cutaneous and mucosal venous malformations (VMCM) is characterized by the presence of small, multifocal bluish cutaneous and mucosal venous malformations. TEK (TIE2) is the only gene in which ... | Congenital malformation | |
| H02045 | Norrie disease | Norrie disease is a severe X-linked recessive form of congenital blindness, which in about one-half of the cases is accompanied by mental retardation and deafness. Mutations in NDP have been reported. | Congenital malformation | |
| H02046 |
OFC syndrome Oto-facio-cervical syndrome |
Otofaciocervical syndrome (OFC) is an inherited disorder characterized by facial dysmorphism, external ear anomalies and hearing impairment, branchial cysts or fistulas, anomalies of the vertebrae and ... | Congenital malformation |
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