KEGG MEDICUS 疾患情報 |
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| エントリ | 名称 | 概要 | カテゴリ | パスウェイ | 病因遺伝子 |
|---|---|---|---|---|---|
| H02017 |
サンドホフ病 GM2 ガングリオシドーシス II 型 |
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 ... | 先天性代謝異常症, ライソゾーム病 | HEXB [HSA:3074] [KO:K12373] | |
| H02018 | 中枢性思春期早発症 | 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 ... | 内分泌代謝疾患 |
(CPPB1) KISS1R [HSA:84634] [KO:K08374] (CPPB2) MKRN3 [HSA:7681] [KO:K15687] |
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| H02019 |
家族性男性思春期早発症 家族性精巣中毒症 ゴナドトロピン非依存性思春期早発症 |
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 ... | 内分泌代謝疾患 | LHCGR [HSA:3973] [KO:K04248] | |
| H02020 | アロマターゼ欠損症 | 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 ... | 内分泌代謝疾患 | CYP19A1 [HSA:1588] [KO:K07434] | |
| H02021 | チェディアック・東症候群 | 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 ... | 原発性免疫不全症 | LYST [HSA:1130] [KO:K22937] | |
| H02022 | グリセリ症候群 | 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 ... | 原発性免疫不全症 |
(GS1) MYO5A [HSA:4644] [KO:K10357] (GS2) RAB27A [HSA:5873] [KO:K07885] (GS3) MLPH [HSA:79083] [KO:K22235] |
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| H02023 | Baraitser-Winter 症候群 | 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 ... | 先天奇形 |
(BRWS1) ACTB [HSA:60] [KO:K05692] (BRWS2) ACTG1 [HSA:71] [KO:K05692] |
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| H02024 | 好中球二次顆粒欠損症 | 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 ... | 原発性免疫不全症 |
(SGD1) CEBPE [HSA:1053] [KO:K10051] (SGD2) SMARCD2 [HSA:6603] [KO:K11650] |
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| H02025 | ミエロペルオキシダーゼ欠損症 | Myeloperoxidase deficiency is the most common inherited disorder of neutrophils. Heterogeneous mutations in the gene encoding myeloperoxidase have been described. | 原発性免疫不全症 | MPO [HSA:4353] [KO:K10789] | |
| H02026 | 家族性低カルシウム尿性高カルシウム血症 | 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 ... | 先天性代謝異常症 |
(HHC1) CASR [HSA:846] [KO:K04612] (HHC2) GNA11 [HSA:2767] [KO:K04635] (HHC3) AP2S1 [HSA:1175] [KO:K11827] |
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| H02027 |
男子性腺機能不全症 男性性腺機能低下症 |
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 ... | 内分泌代謝疾患 | ||
| H02028 |
フィラリア症 糸状虫症 |
Lymphatic filariasis, onchocerciasis, mansonelliasis and loiasis caused by parasitic roundworms (nematodes) called filariae are diseases of tropical and subtropical countries causing high morbidity. | 寄生虫感染症 | ||
| H02029 | 肺 MAC 症 | Nontuberculous mycobacteria (NTM), including Mycobacterium avium complex (MAC), cause opportunistic chronic pulmonary infections. MAC includes M. avium, M. intracellulare, and eight other species, including ... | 細菌感染症 | ||
| H02030 | 新生児副甲状腺機能亢進症 | 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 ... | 内分泌代謝疾患 |
(NHPT) CASR [HSA:846] [KO:K04612] (HRPTTN) TRPV6 [HSA:55503] [KO:K04975] |
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| H02031 | 骨パジェット病および前頭側頭型認知症をともなう封入体ミオパチー | 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 ... | 神経系疾患; 筋骨格疾患 |
(IBMPFD1) VCP [HSA:7415] [KO:K13525] [K13525] (IBMPFD2) HNRNPA2B1 [HSA:3181] [KO:K13158] (IBMPFD3) HNRNPA1 [HSA:3178] [KO:K12741] |
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| H02032 | エントモフトラ症 | 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 ... | 真菌感染症 | ||
| H02033 |
ムコール症 ムーコル症 |
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 ... | 真菌感染症 | ||
| H02034 | 中枢性甲状腺機能低下および精巣腫大 | 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 ... | 内分泌代謝疾患 | IGSF1 [HSA:3547] [KO:K26168] | |
| H02035 | 成長ホルモン単独欠損症 | 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 ... | 内分泌代謝疾患 |
(IGHD1A/1B/2) GH1 [HSA:2688] [KO:K05438] (IGHD3) BTK [HSA:695] [KO:K07370] (IGHD4) GHRHR [HSA:2692] [KO:K04584] (IGHD5) RNPC3 [HSA:55599] [KO:K13157] |
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| H02036 | 複合下垂体ホルモン欠損症 | 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 ... | 内分泌代謝疾患 |
(CPHD1) POU1F1 [HSA:5449] [KO:K09363] (CPHD2) PROP1 [HSA:5626] [KO:K09327] (CPHD3) LHX3 [HSA:8022] [KO:K09374] (CPHD4) LHX4 [HSA:89884] [KO:K09374] (CPHD5) HESX1 [HSA:8820] [KO:K09354] (CPHD6) OTX2 [HSA:5015] [KO:K18490] (CPHD7) RNPC3 [HSA:55599] [KO:K13157] (CPHD8) ROBO1 [HSA:6091] [KO:K06753] |
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| H02037 |
ラロン症候群 成長ホルモン不応性症候群 下垂体性低身長症 II型 |
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 ... | 内分泌代謝疾患 | GHR [HSA:2690] [KO:K05080] | |
| H02038 | X連鎖性汎下垂体機能低下症 | 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 ... | 内分泌代謝疾患 | SOX3 [HSA:6658] [KO:K09267] | |
| H02039 | Kowarski 症候群 | 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 ... | 内分泌代謝疾患 | GH1 [HSA:2688] [KO:K05438] | |
| H02040 | IGF1 欠損症 | 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 ... | 内分泌代謝疾患 | IGF1 [HSA:3479] [KO:K05459] | |
| H02041 | 近視 | 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 ... | 神経系疾患 |
(MYP6) SCO2 [HSA:9997] [KO:K23755] (MYP21) ZNF644 [HSA:84146] [KO:K24374] (MYP22) PRIMPOL [HSA:201973] [KO:K22761] (MYP23) LRPAP1 [HSA:4043] [KO:K22290] (MYP24) SLC39A5 [HSA:283375] [KO:K14711] (MYP25) P4HA2 [HSA:8974] [KO:K00472] (MYP26) ARR3 [HSA:407] [KO:K13801] (MYP27) CPSF1 [HSA:29894] [KO:K14401] (MYP28) LOXL3 [HSA:84695] [KO:K00280] (MCVD) P3H2 [HSA:55214] [KO:K22459] |
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| H02042 | 家族性広汎性骨溶解症 | 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 ... | 筋骨格疾患 | TNFRSF11A [HSA:8792] [KO:K05147] | |
| H02043 | 毛細血管奇形および動静脈奇形 | 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 ... | 先天奇形 |
(CMAVM1) RASA1 [HSA:5921] [KO:K04352] (CMAVM2) EPHB4 [HSA:2050] [KO:K05113] |
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| H02044 | 粘膜皮膚静脈奇形 (VMCM) | 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 ... | 先天奇形 | TEK [HSA:7010] [KO:K05121] | |
| H02045 | Norrie 病 | 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. | 先天奇形 | NDP [HSA:4693] [KO:K25688] | |
| H02046 |
OFC 症候群 耳顔頚部症候群 |
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 ... | 先天奇形 |
(OFC1) EYA1 [HSA:2138] [KO:K15616] (OFC2) PAX1 [HSA:5075] [KO:K09382] |