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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| H02558 | Ikegawa 型頭蓋管状骨異形成症 | Craniotubular dysplasia, Ikegawa type (CTDI) is a sclerosing bone disorder characterized by childhood-onset short-limbed short stature and head deformities. It has been reported that deficiency of TMEM53 ... | 先天奇形 | TMEM53 [HSA:79639] [KO:K28359] | |
| H02559 | 糖尿病性細小血管合併症 | Microvascular complications of diabetes (MVCD) caused by damage in the small blood vessels contribute to pathologic and functional changes in many tissues, including eye, heart, kidney, skin, and neuronal ... | 内分泌代謝疾患 |
(MVCD1) VEGFA [HSA:7422] [KO:K05448] (MVCD2) EPO [HSA:2056] [KO:K05437] (MVCD3) ACE [HSA:1636] [KO:K01283] (MVCD4) IL1RN [HSA:3557] [KO:K05481] (MVCD5) PON1 [HSA:5444] [KO:K01045] (MVCD6) SOD2 [HSA:6648] [KO:K04564] (MVCD7) HFE [HSA:3077] [KO:K26535] |
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| H02560 | White-Kernohan 症候群 | White-Kernohan syndrome is a neurodevelopmental syndrome characterized by intellectual disability and hypotonia with dysmorphic facial features. It has been reported that mutations in DDB1 cause this disease ... | 先天奇形 | DDB1 [HSA:1642] [KO:K10610] | |
| H02561 | 免疫不全を伴う（または伴わない）家族性自己炎症症候群 | Familial autoinflammatory syndrome with or without immunodeficiency (AISIMD) is an early onset autoimmune disease caused by mutations in the SOCS1 gene. Patients have autoimmune cytopenia and organ-specific ... | 免疫系疾患 | SOCS1 [HSA:8651] [KO:K04694] | |
| H02562 | Yoon-Bellen 神経発達症候群 | Yoon-Bellen neurodevelopmental syndrome (YOBELN) is a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia. YOBELN is caused by mutations in OGDHL that encodes ... | 先天性代謝異常症, ミトコンドリア病 | OGDHL [HSA:55753] [KO:K00164] | |
| H02563 | 神経管欠損症 | Neural tube defects (NTDs) represent a common group of severe congenital malformations that result from failure of neural tube closure during early development. Their etiology is quite complex involving ... | 先天奇形 |
VANGL1 [HSA:81839] [KO:K04510] VANGL2 [HSA:57216] [KO:K04510] TBXT [HSA:6862] [KO:K10172] CCL2 [HSA:6347] [KO:K14624] FUZ [HSA:80199] [KO:K22861] |
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| H02564 | 全般てんかん熱性けいれんプラス | Generalized epilepsy with febrile seizures plus (GEFSP) is a familial epilepsy syndrome with a spectrum of phenotypes. Mutations in the voltage-gated cation channel subunit genes and the GABA(A) receptor ... | 神経系疾患 |
(GEFSP1) SCN1B [HSA:6324] [KO:K04845] (GEFSP2) SCN1A [HSA:6323] [KO:K04833] (GEFSP3) GABRG2 [HSA:2566] [KO:K05186] (GEFSP5) GABRD [HSA:2563] [KO:K05184] (GEFSP9) STX1B [HSA:112755] [KO:K08486] (GEFSP10) HCN1 [HSA:348980] [KO:K04954] (GEFSP11) HCN2 [HSA:610] [KO:K04955] (GEFSP12) SLC32A1 [HSA:140679] [KO:K15015] |
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| H02565 | 遺伝性非ポリポーシス大腸癌 | Hereditary non-polyposis colorectal cancer (HNPCC) syndrome is characterized by inherited predisposition to early colorectal carcinoma and extracolonic epithelia-derived tumors most often located in the ... | がん |
(HNPCC1) MSH2 [HSA:4436] [KO:K08735] (HNPCC2) MLH1 [HSA:4292] [KO:K08734] (HNPCC4) PMS2 [HSA:5395] [KO:K10858] (HNPCC5) MSH6 [HSA:2956] [KO:K08737] (HNPCC6) TGFBR2 [HSA:7048] [KO:K04388] (HNPCC7) MLH3 [HSA:27030] [KO:K08739] (HNPCC8) EPCAM [HSA:4072] [KO:K06737] |
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| H02566 | Muir-Torre 症候群 | Muir-Torre syndrome is a rare autosomal-dominant genodermatosis characterized by sebaceous neoplasms and one or more visceral malignancies. Because patients have germline mutations in the DNA mismatch ... | がん |
MSH2 [HSA:4436] [KO:K08735] MLH1 [HSA:4292] [KO:K08734] |
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| H02567 | 末梢神経障害を伴うソルビトール脱水素酵素欠損症 | Sorbitol dehydrogenase deficiency with peripheral neuropathy is an autosomal recessive neuropathy characterized by onset of distal muscle weakness mainly affecting the lower limbs. It is caused by biallelic ... | 先天性代謝異常症 | SORD [HSA:6652] [KO:K00008] | |
| H02568 | ポリメラーゼ校正関連ポリポーシス | Polymerase proofreading-associated polyposis (PPAP) is an autosomal dominant cancer syndrome caused by germline variants in the exonuclease domains of POLD1 and POLE. PPAP is characterized by oligo adenomatous ... | がん |
POLD1 [HSA:5424] [KO:K02327] POLE [HSA:5426] [KO:K02324] |
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| H02569 | テロメア関連肺線維症および/または骨髄不全症 | Pulmonary fibrosis and/or bone marrow failure, telomere-related (PFBMFT) is also known as human telomere biology disorders, or short telomere syndromes. PFBMFT is a group of hereditary disorders caused ... | 血液疾患 |
(PFBMFT1) TERT [HSA:7015] [KO:K11126] (PFBMFT2) TERC [HSA:7012] [KO:K22183] (PFBMFT3) RTEL1 [HSA:51750] [KO:K11136] (PFBMFT4) PARN [HSA:5073] [KO:K01148] (PFBMFT5) ZCCHC8 [HSA:55596] [KO:K13128] (PFBMFT6) RPA1 [HSA:6117] [KO:K07466] (PFBMFT7) NAF1 [HSA:92345] [KO:K14763] (PFBMFT8) POT1 [HSA:25913] [KO:K11109] (PFBMFT9) NOP10 [HSA:55505] [KO:K11130] |
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| H02570 | 脳・眼・顔・骨格症候群 | Cerebro-oculo-facio-skeletal (COFS) syndrome is a rare autosomal recessive disorder with microcephaly, severe mental retardation, and death in childhood. COFS can result from mutations in ERCC1, ERCC2 ... | 先天奇形 |
(COFS1) ERCC6 [HSA:2074] [KO:K10841] (COFS2) ERCC2 [HSA:2068] [KO:K10844] (COFS3) ERCC5 [HSA:2073] [KO:K10846] (COFS4) ERCC1 [HSA:2067] [KO:K10849] |
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| H02571 | 筋緊張低下および様々な知能・行動異常を伴う神経発達障害 | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities (NEDHIB) is a neurodevelopmental syndrome characterized by profound infantile-onset hypotonia and developmental ... | 神経系疾患 | POLR2A [HSA:5430] [KO:K03006] | |
| H02572 | 多様な運動失調とてんかん発作を伴う小児発症ストレス誘発性神経変性疾患 | Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (CONDSIAS) is a rare autosomal recessive epilepsy-ataxia syndrome initiating with sudden severe seizures. Disease progress ... | 神経系疾患 | ADPRHL2 [HSA:54936] [KO:K11687] | |
| H02573 | 常染色体劣性遺伝性脊髄小脳失調症および軸索性ニューロパチー | Autosomal recessive spinocerebellar ataxias with axonal neuropathy (SCAN) is a heterogeneous group of inherited neurodegenerative disorders characterized by ataxia, cerebellar atrophy, and polyneuropathy | 神経変性疾患 |
(SCAN1) TDP1 [HSA:55775] [KO:K10862] (SCAN2) SETX [HSA:23064] [KO:K10706] (SCAN3) COA7 [HSA:65260] [KO:K18180] |
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| H02574 | BILU 症候群 | BILU (B-cell immunodeficiency, distal limb anomalies, and urogenital malformations) syndrome is a novel multiple congenital anomalies syndrome that include both skeletal dysplasia and immune deficiency ... | 免疫系疾患 | TOP2B [HSA:7155] [KO:K03164] | |
| H02575 | 成人型乳糖不耐症 | Lactose intolerance, adult type is a common condition resulting from the physiological decline in activity of the lactase phlorizin hydrolase (LPH) in intestinal cells after weaning. In a minority of adults ... | 先天性代謝異常症 | MCM6 [HSA:4175] [KO:K02542] | |
| H02576 | 家族性皮膚毛細血管拡張症および癌症候群 | Familial cutaneous telangiectasia and cancer syndrome (FCTCS) is an autosomal dominant disease caused by germline mutations in ATR. ATR is an essential regulator of genome integrity. It controls and coordinates ... | 先天奇形 | ATR [HSA:545] [KO:K06640] | |
| H02577 | カリオメガリック間質性腎炎 | Karyomegalic interstitial nephritis (KMIN) is a rare hereditary cause of chronic kidney disease. It typically causes progressive renal impairment with haemoproteinuria. It has been identified that mutations ... | 泌尿器系疾患 | FAN1 [HSA:22909] [KO:K15363] | |
| H02578 | 低身長、小頭症および内分泌機能異常 | Short stature, microcephaly, and endocrine dysfunction (SSMED) is one of the microcephalic primordial dwarfism characterized by severe postnatal growth failure, microcephaly, gonadal failure, metabolic ... | 先天奇形 | XRCC4 [HSA:7518] [KO:K10886] | |
| H02579 | C3 腎症 | C3 glomerulopathy (C3G) describes a pathologic pattern of injury diagnosed by renal biopsy characterized by the dominant deposition of the third component of complement (C3) in the renal glomerulus. Autoantibodies ... | 免疫系疾患; 泌尿器系疾患 |
(C3G1) CFH [HSA:3075] [KO:K04004] (C3G2) CFI [HSA:3426] [KO:K01333] (C3G3) CFHR5 [HSA:81494] [KO:K23817] |
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| H02580 | 痙性対麻痺を伴う遺伝性感覚性ニューロパチー | Hereditary sensory neuropathy with spastic paraplegia is a very rare disease with both autosomal dominant and recessive modes of inheritance. The autosomal recessive form is characterised by progressive ... | 神経系疾患 | CCT5 [HSA:22948] [KO:K09497] | |
| H02581 | Juberg-Hayward 症候群 | Juberg-Hayward syndrome (JHS) is a rare autosomal recessive malformation syndrome, characterized by cleft lip/palate, microcephaly, ptosis, short stature, hypoplasia or aplasia of thumbs, and dislocation ... | 先天奇形 | ESCO2 [HSA:157570] [KO:K11268] | |
| H02582 | Mullegama-Klein-Martinez 症候群 | Mullegama-Klein-Martinez syndrome (MKMS) is an X-linked neurodevelopmental disorder characterized by developmental delay, microcephaly, and congenital anomalies. It has been reported that mutations in ... | 先天奇形 | STAG2 [HSA:10735] [KO:K06671] | |
| H02583 | X-連鎖性知的障害-筋緊張低下顔貌症候群 | X-linked intellectual disability-hypotonic facies syndrome is an X-linked recessive condition characterized by moderate to severe intellectual disability, short stature, hypotonia, and distinctive facial ... | 先天奇形 | ATRX [HSA:546] [KO:K10779] | |
| H02584 | Ferguson-Bonni 神経発達症候群 | Ferguson-Bonni neurodevelopmental syndrome (FERBON) is an autosomal recessive intellectual disability syndrome caused by mutations in ANAPC7. ANAPC7 encodes APC7, a core component of the E3 ubiquitin ligase ... | 先天奇形 | ANAPC7 [HSA:51434] [KO:K03354] | |
| H02585 | Roifman-Chitayat 症候群 | Roifman-Chitayat syndrome (ROCHIS) is a combined immunodeficiency, characterized by facial dysmorphism, optic nerve atrophy, skeletal anomalies, myoclonic seizures, and substantial developmental delays ... | 免疫系疾患 |
PIK3CD [HSA:5293] [KO:K00922] KNSTRN [HSA:90417] [KO:K26097] |
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| H02586 | 縁取り空胞を伴う遠位型ミオパチー | Distal myopathy with rimmed vacuoles (DMRV) is an autosomal dominant distal myopathy. It has been reported that mutations in SQSTM1 cause this disease. SQSTM1 is an autophagic adaptor that shuttles aggregated ... | 神経系疾患; 筋骨格疾患 | SQSTM1 [HSA:8878] [KO:K14381] | |
| H02587 | Luo-Schoch-Yamamoto 症候群 | Luo-Schoch-Yamamoto syndrome (LUSYAM) is a novel neurodevelopmental disorder caused by mutations in RNF2. LUSYAM is characterized by global developmental delay, severe intellectual disabilities, behavioral ... | 先天奇形 | RNF2 [HSA:6045] [KO:K10695] |