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 |
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| H00993 | Taybi-Linder 症候群 | Microcephalic osteodysplastic primordial dwarfism, type I (MOPD I) is a condition comprising severe intrauterine and postnatal growth retardation, microcephaly, and skeletal anomalies. MOPD I is characterized ... | 先天奇形 | RNU4ATAC [HSA:100151683] [KO:K26388] | |
| H00994 | Familial skewed X-chromosome inactivation | X chromosome inactivation is the transcriptional silencing of the majority of genes on one of the two X chromosomes in mammalian females that equalizes the effective dosage of X-linked genes between XX ... | 染色体異常 | ||
| H00995 | ビタミン K 欠乏による凝固因子欠乏 | Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a rare congenital bleeding disorder consisting of a deficiency of clotting factors II, VII, IX, and X , as well as the coagulation inhibitors ... | 循環器系疾患 |
(VKCFD1) GGCX [HSA:2677] [KO:K10106] (VKCFD2) VKORC1 [HSA:79001] [KO:K05357] |
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| H00996 | アーミッシュ小児てんかん症候群 | Amish infantile epilepsy syndrome is an autosomal recessive, infantile-onset symptomatic epilepsy associated with developmental stagnation and blindness. A mutation in SIAT9, which is predicted to result ... | 先天性代謝異常症 | ST3GAL5 [HSA:8869] [KO:K03370] | |
| H00997 | CATSHL 症候群 | CATSHL syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss. The syndrome is caused by a missense mutation in the FGFR3 gene. FGFR3 is a negative regulator of bone growth ... | 先天奇形 | FGFR3 [HSA:2261] [KO:K05094] | |
| H00998 | 小児交互性片麻痺 | Alternating hemiplegia of childhood (AHC) is a rare disorder with onset before 18 months of age. The earliest manifestations of AHC are recurrent bilateral attacks of hemiplegia lasting minutes to days ... | 神経系疾患 |
(AHC1) ATP1A2 [HSA:477] [KO:K01539] (AHC2) ATP1A3 [HSA:478] [KO:K01539] |
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| H00999 | コエンザイムQ10欠損症 | Coenzyme Q10 deficiency is an autosomal recessive disorder with variable manifestations, including pure myopathy, myopathy with encephalopathy, cerebellar atrophy with ataxia, and infantile multisystem ... | 先天性代謝異常症 |
(COQ10D1) COQ2 [HSA:27235] [KO:K06125] (COQ10D2) PDSS1 [HSA:23590] [KO:K12504] (COQ10D3) PDSS2 [HSA:57107] [KO:K12505] (COQ10D4) COQ8A [HSA:56997] [KO:K08869] (COQ10D5) COQ9 [HSA:57017] [KO:K18587] (COQ10D6) COQ6 [HSA:51004] [KO:K06126] (COQ10D7) COQ4 [HSA:51117] [KO:K18586] (COQ10D8) COQ7 [HSA:10229] [KO:K28034] (COQ10D9) COQ5 [HSA:84274] [KO:K06127] |
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| H01000 | 脳白質萎縮症を伴う網膜脈管障害 | Retinal vasculopathy with cerebral leukodystrophy (RVCL) is a rare autosomal dominant microvascular endotheliopathy with middle-age onset. At around the age of 45, affected individuals may develop retinal ... | 神経系疾患 | TREX1 [HSA:11277] [KO:K10790] | |
| H01001 | COACH 症候群 | COACH syndrome is a rare autosomal recessive disorder with cerebellar vermis hypoplasia, oligophrenia, ataxia, coloboma, and hepatic fibrosis. The vermis hypoplasia comprises a part of a spectrum of mid-hindbrain ... | 先天奇形 |
(COACH1) TMEM67 [HSA:91147] [KO:K19348] (COACH2) CC2D2A [HSA:57545] [KO:K19352] (COACH3) RPGRIP1L [HSA:23322] [KO:K16550] |
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| H01002 | 乳児全身性動脈石灰化 (GACI) | Generalized arterial calcification of infancy (GACI) is a rare and often fatal genetic disorder, characterized by calcification of the internal elastic lamina, fibrotic myointimal proliferation of muscular ... | 循環器系疾患 |
(GACI1) ENPP1 [HSA:5167] [KO:K01513] (GACI2) ABCC6 [HSA:368] [KO:K05669] |
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| H01003 | ジメチルグリシンデヒドロゲナーゼ欠損 | Dimethylglycine dehydrogenase deficiency (DMGDHD) is a rare autosomal recessive disorder characterized by fish odor, and unusual muscle fatigue with increased serum creatine kinase. Dimethylglycine dehydrogenase ... | 先天性代謝異常症 | (DMGDHD) DMGDH [HSA:29958] [KO:K00315] | |
| H01004 | 口蓋心臓顔面症候群 | Velocardiofacial syndrome (VCFS) is a condition characterized by multiple congenital abnormalities affecting tissues derived from neural crest cells. Individuals with VCFS are reported to have distinctive ... | 染色体異常 |
TBX1 [HSA:6899] [KO:K10175] DGCR2 [HSA:9993] [KO:K27941] DGCR6 [HSA:8214] [KO:K28488] DGCR8 [HSA:54487] [KO:K18419] ESS2 [HSA:8220] [KO:K13118] |
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| H01005 | ドーパミンベータヒドロキシラーゼ欠損症 | Dopamine beta-hydroxylase (DBH) deficiency is a very rare form of primary autonomic failure characterized by cardiovascular disorders and severe orthostatic hypotension. DBH deficiency is caused by a series ... | 神経系疾患 | DBH [HSA:1621] [KO:K00503] | |
| H01006 | 遺伝性血管性浮腫 | Hereditary angioedema (HAE) is a rare genetic disorder, manifested by recurrent episodes of angioedema localized to the skin or mucosa of the gastrointestinal tract or larynx. The laryngeal angioedema ... | 循環器系疾患 |
(HAE1/2) SERPING1 [HSA:710] [KO:K04001] (HAE3) F12 [HSA:2161] [KO:K01328] (HAE4) PLG [HSA:5340] [KO:K01315] (HAE5) ANGPT1 [HSA:284] [KO:K05465] (HAE6) KNG1 [HSA:3827] [KO:K03898] (HAE7) MYOF [HSA:26509] [KO:K22125] (HAE8) HS3ST6 [HSA:64711] [KO:K09679] |
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| H01007 | 脈絡叢乳頭腫 | Choroid plexus tumors (CPTs) are rare intraventricular papillary neoplasms of neuroectodermal origin, accounting for less than 1% of all intracranial tumors and 2-4% of pediatric brain tumors. CPTs are ... | 神経系疾患 | p53 [HSA:7157] [KO:K04451] | |
| H01008 |
C 症候群 オピッツ三角頭蓋症候群 |
The C syndrome/ Opitz trigonocephaly syndrome is characterized by trigonocephaly and associated anomalies, such as unusual facies, psychomotor retardation, redundant skin, joint and limb abnormalities ... | 先天奇形 | CD96 [HSA:10225] [KO:K06517] | |
| H01009 | ニューファンドランド錐体杆体ジストロフィー | Newfoundland rod-cone dystrophy (NFRCD) is a disorder characterized by retinal dystrophy reminiscent of retinitis punctata albescens with a substantially lower age at onset and more-rapid and distinctive ... | 神経系疾患 | RLBP1 [HSA:6017] [KO:K19625] | |
| H01010 | オカルト黄斑ジストロフィー | Occult macular dystrophy (OMD) is an inherited or sporadic macular dystrophy characterized by progressive loss of macular function but normal ophthalmoscopic appearance. Patients with OMD have normal full-field ... | 神経系疾患 | RP1L1 [HSA:94137] [KO:K19538] | |
| H01011 | ACTH単独欠損症 | Isolated adrenocorticotropic hormone deficiency (IAD) is a rare disease characterized by low plasma ACTH and cortisol levels and preservation of all other pituitary hormones, that may be an underestimated ... | 内分泌代謝疾患 | TBX19 [HSA:9095] [KO:K10184] | |
| H01012 | 眼-耳症候群 | Oculo-auricular syndrome is a rare developmental recessive condition characterized by ophthalmic anomalies and a particular cleft ear lobule. Previously described ocular abnormalities include bilateral ... | 先天奇形 | HMX1 [HSA:3166] [KO:K09349] | |
| H01013 | 成人i型 | Adult i phenotype is a rare autosomal recessive condition that was found to be highly associated with congenital cataract. The I and i antigens are carbohydrate structures on glycoproteins and glycolipids ... | 血液疾患 | GCNT2 [HSA:2651] [KO:K00742] | |
| H01014 | 孤虫症 | Human sparganosis is caused by the larval form (spargana) of the canine/feline tapeworms belonging to the genus Spirometra. A wide range of amphibians, reptiles, birds, and mammals serve as second intermediate/paratenic ... | 寄生虫感染症 | ||
| H01015 | Jalili 症候群 | Jalili syndrome is a combination of recessively inherited cone-rod dystrophy and amelogenesis imperfecta. It is caused by mutations in the CNNM4 gene, encoding a putative metal transporter, that is expressed ... | 先天奇形 | CNNM4 [HSA:26504] [KO:K16302] | |
| H01016 | 原発性胆汁酸吸収不良 | This disease occurs when there is impaired absorption of bile acids in the terminal ileum. In patients with terminal ileal resection or impaired terminal ileal function, bile acids are not reabsorbed and ... | 消化器系疾患 |
(PBAM1) SLC10A2 [HSA:6555] [KO:K14342] (PBAM2) SLC51B [HSA:123264] [KO:K14361] |
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| H01017 | 後鼻孔閉鎖症 および リンパ浮腫 | Choanal atresia and lymphoedema is a rare congenital malformation caused by loss-of-function mutation in PTPN14 encoding a nonreceptor tyrosine phosphatase. PTPN14 has been shown to interact with the vascular ... | 先天奇形 | PTPN14 [HSA:5784] [KO:K18025] | |
| H01018 | Metachondromatosis | Metachondromatosis (MC) is a rare, autosomal dominant condition affecting the growth of bones. It is characterized by exostoses (osteochondromas) and enchondromas. Exostotic lesions occur frequently in ... | 先天奇形 | PTPN11 [HSA:5781] [KO:K07293] | |
| H01019 | カテコールアミン誘発性多形性心室頻拍 | Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a highly lethal form of inherited primary electrical myocardial disease characterized by exercise- and stress-related adrenergic ventricular ... | 循環器系疾患 |
(CPVT1) RYR2 [HSA:6262] [KO:K04962] (CPVT2) CASQ2 [HSA:845] [KO:K23445] (CPVT3) TECRL [HSA:253017] [KO:K24219] (CPVT4) CALM1 [HSA:801] [KO:K02183] (CPVT5) TRDN [HSA:10345] [KO:K23449] (CPVT6) CALM3 [HSA:808] [KO:K02183] |
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| H01020 | 視神経萎縮症 | Hereditary optic atrophy (OPA) is a group of neurodegenerative disorders characterized by a sudden or gradual loss of retinal ganglion cells function. OPA results from degeneration of the retinal ganglion ... | 神経系疾患 |
(OPA1) OPA1 [HSA:4976] [KO:K17079] (OPA3) OPA3 [HSA:80207] [KO:K23166] (OPA5) DNM1L [HSA:10059] [KO:K17065] (OPA7) TMEM126A [HSA:84233] [KO:K18157] (OPA9) ACO2 [HSA:50] [KO:K01681] (OPA10) RTN4IP1 [HSA:84816] [KO:K23164] (OPA11) YME1L1 [HSA:10730] [KO:K08955] (OPA12) AFG3L2 [HSA:10939] [KO:K08956] (OPA13) SSBP1 [HSA:6742] [KO:K03111] (OPA14) MIEF1 [HSA:54471] [KO:K23507] (OPA15) MCAT [HSA:27349] [KO:K00645] (OPA16) MECR [HSA:51102] [KO:K07512] |
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| H01021 | Rhodococcus equi 感染 | Rhodococcus equi is an aerobic, gram-positive bacillus. R. equi infection is rare in humans, but it can cause potentially fatal disease in immunocompromised patients. Although the clinical spectrum of ... | 細菌感染症 | ||
| H01022 | TCA回路の異常 | Diseases of the tricarboxylic acid cycle (TCA cycle) constitute a group of rare human diseases that affect core mitochondrial metabolism. The Fumarase deficiency is caused by impairment of the fumarate ... | 先天性代謝異常症 |
(FMRD) FH [HSA:2271] [KO:K01679] (MC2DN1) SDHA [HSA:6389] [KO:K00234] (OGDHD) OGDH [HSA:4967] [KO:K00164] |