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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| H02318 | 皮膚有棘細胞癌と性転換を伴う掌蹠角化症 | Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal (PPK-SCC) is a form of 46,XX disorder of sex development. It is a rare autosomal recessive disorder caused due to biallelic ... | 生殖器系疾患 | RSPO1 [HSA:284654] [KO:K19471] | |
| H02319 | IMAGE 症候群 | IMAGE syndrome (intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita and genital anomalies) is an autosomal dominant undergrowth developmental disorder with life-threatening ... | 内分泌代謝疾患 | CDKN1C [HSA:1028] [KO:K09993] | |
| H02320 | CASQ1 凝集を伴う空胞性ミオパチー | Vacuolar myopathy with CASQ1 aggregates (VMCQA) is an autosomal dominant benign vacuolar myopathy and hyperCKemia. VMCQA is the protein aggregate myopathy with benign evolution and muscle inclusions composed ... | 筋骨格疾患 | CASQ1 [HSA:844] [KO:K23468] | |
| H02321 | 早期発症ミオパチー・反射消失・呼吸困難および嚥下障害 | Early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMRDD) is an autosomal recessive myopathy characterized by severe weakness, respiratory impairment, scoliosis, joint contractures, ... | 筋骨格疾患 | MEGF10 [HSA:84466] [KO:K24068] | |
| H02322 |
アミロイド症フィンランド型 Meretoja 症候群 格子状角膜ジストロフィーを伴うアミロイド脳神経障害 |
Amyloidosis, Finnish type (Meretoja syndrome) is an autosomal dominant form of systemic amyloidosis caused by a mutation in the gelsolin gene. It is characterized by lattice corneal dystrophy, progressive ... | 神経系疾患 | GSN [HSA:2934] [KO:K05768] | |
| H02323 | Ruijs-Aalfs 症候群 | Ruijs-Aalfs syndrome is characterized by early onset hepatocellular carcinoma, genomic instability and progeroid features. It has been reported that mutations in SPRTN cause this disease. | 内分泌代謝疾患 | SPRTN [HSA:83932] [KO:K24051] | |
| H02324 | 椎骨奇形を伴う仙骨無形成 | Sacral agenesis with vertebral anomalies is a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal. It has been reported that mutations ... | 先天奇形 | TBXT [HSA:6862] [KO:K10172] | |
| H02325 | Schaaf-Yang 症候群 | Schaaf-Yang syndrome is a Prader-Willi-like disease [DS:H00478], manifesting developmental delay, intellectual disability, hypotonia, feeding difficulties, and autism spectrum disorder. It has been reported ... | 先天奇形 | MAGEL2 [HSA:54551] [KO:K23950] | |
| H02326 |
Keipert 症候群 Nasodigitoacoustic 症候群 |
Keipert syndrome is a rare, X-linked disorder characterized by craniofacial and digital abnormalities and variable learning difficulties and sensorineural deafness. It has been reported that pathogenic ... | 先天奇形 | GPC4 [HSA:2239] [KO:K08110] | |
| H02327 | KBG 症候群 | KBG syndrome is characterized by intellectual disability, skeletal malformations, and macrodontia. It has been reported that mutations in ANKRD11 cause this disease. | 先天奇形 | ANKRD11 [HSA:29123] [KO:K21436] | |
| H02328 | Sifrim-Hitz-Weiss 症候群 | Sifrim-Hitz-Weiss syndrome is characterized by developmental delay, intellectual disability, hearing loss, macrocephaly, distinct facial dysmorphisms, palatal abnormalities, ventriculomegaly, and hypogonadism ... | 先天奇形 | CHD4 [HSA:1108] [KO:K11643] | |
| H02329 | 肝性リパーゼ欠損症 | Hepatic lipase deficiency is a rare autosomal recessive disorder, characterized by elevated levels of triglycerides and cholesterol. Some patients have premature cardiovascular disease. Missense mutations ... | 先天性代謝異常症 | LIPC [HSA:3990] [KO:K22283] | |
| H02330 | 膵リパーゼ欠損症 | Congenital pancreatic lipase deficiency is a rare autosomal recessive exocrine pancreatic failure characterized by decreased absorption of dietary fat and greasy voluminous stools, but apparent normal ... | 先天性代謝異常症 | PNLIP [HSA:5406] [KO:K14073] | |
| H02331 |
消化管異常および免疫不全症候群 多発性小腸閉鎖症を伴う複合免疫不全症 |
Gastrointestinal defects and immunodeficiency syndrome (GIDID) is a rare hereditary disease characterized by intestinal obstructions and profound immune defects. It has been suggested that TTC7A gene defects ... | 先天奇形 |
(GIDID1) TTC7A [HSA:57217] [KO:K21843] (GIDID2) PI4KA [HSA:5297] [KO:K00888] |
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| H02332 | 軸前母指側多指(趾) | Polydactyly is the most common hereditary limb anomaly characterized by extra fingers. Preaxial polydactyly (PPD) refers to polydactyly where the additional digit grows toward the first digit of the hand ... | 先天奇形 |
(PPD1) GLI1 [HSA:2735] [KO:K16797] (PPD2) ZRS/LMBR1 [HSA:64327] [KO:K25217] (PPD4) GLI3 [HSA:2737] [KO:K06230] |
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| H02333 | Laurin-Sandrow 症候群 | Laurin-Sandrow syndrome (LSS) is a rare autosomal dominant disorder characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, and nasal defects. It has been shown that ... | 先天奇形 | (LSS) ZRS/LMBR1 [HSA:64327] [KO:K25217] | |
| H02334 | Pierpont 症候群 | Pierpont syndrome is a rare disorder characterized by developmental delay, characteristic facial gestalt, hearing loss, and abnormal fat distribution in the distal limbs. Mutations in TBL1XR1 have been ... | 先天奇形 | TBL1XR1 [HSA:79718] [KO:K04508] | |
| H02335 | 着床前胚致死 | Preimplantation embryonic lethality (PREMBL), also known as early embryonic arrest, is one of the major causes of female infertility. Recently, a mutation in TLE6, which encodes a protein participating ... | 生殖器系疾患 |
(PREMBL1) TLE6 [HSA:79816] [KO:K04497] (PREMBL2) PADI6 [HSA:353238] [KO:K01481] |
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| H02336 | 遺伝性難聴 (Y連鎖) | Hearing loss is the most common sensory disorder in humans. Hereditary hearing loss (HHL) contributes to more than 60% of deafness cases, with autosomal dominant, recessive, and X-linked forms. Although ... | 神経系疾患 | (DFNY2) TBL1Y [HSA:90665] [KO:K04508] | |
| H02337 | Skraban-Deardorff 症候群 | Skraban-Deardorff syndrome is characterized by intellectual disability with seizures, abnormal gait, and distinctive facial features. It has been reported that WDR26 haploinsufficiency causes this disease | 先天奇形 | WDR26 [HSA:80232] [KO:K22382] | |
| H02338 | PEHO 様症候群 | PEHO syndrome [DS:H02252] is a rare hereditary disease comprising severe retardation, early onset epileptic seizures, optic nerve/cerebellar atrophy, pedal oedema, and early death. Cases lacking either ... | 神経系疾患 | CCDC88A [HSA:55704] [KO:K25392] | |
| H02339 | オーディトリーニューロパチー | Auditory neuropathy is a rare form of deafness characterized by an absent or abnormal auditory brainstem response with preservation of outer hair cell function. DIAPH3 has been identified as the gene responsible ... | 神経系疾患 |
(AUNA1) DIAPH3 [HSA:81624] [KO:K05745] (AUNA2) ATP11A [HSA:23250] [KO:K26934] (AUNA3) TMEM43 [HSA:79188] [KO:K27488] (ANOA) FDXR [HSA:2232] [KO:K18914] |
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| H02340 | 吸収性高カルシウム尿症 | Absorptive hypercalciuria (AH) is a kidney stone-forming condition frequently complicated by bone loss. AH is characterized by intestinal hyperabsorption of calcium in the presence of normal serum calcium ... | 先天性代謝異常症 | ADCY10 [HSA:55811] [KO:K11265] | |
| H02341 | Goldmann-Favre 症候群 | Goldmann-Favre syndrome (GFS) is an autosomal recessive progressive retinal degeneration that develops due to a mutation in the NR2E3 gene, which has a role in the regulation of cone cell differentiation ... | 神経系疾患 | NR2E3 [HSA:10002] [KO:K08546] | |
| H02342 | 前頭側頭型認知症および筋萎縮性側索硬化症 | Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are genetically heterogeneous disorders. Mutations in the several genes and a repeat expansion in the C9orf72 gene have been reported ... | 神経系疾患 |
(FTDALS1) C9orf72 [HSA:203228] [KO:K23609] (FTDALS2) CHCHD10 [HSA:400916] [KO:K22759] (FTDALS3) SQSTM1 [HSA:8878] [KO:K14381] (FTDALS4) TBK1 [HSA:29110] [KO:K05410] (FTDALS5) CCNF [HSA:899] [KO:K10289] (FTDALS6) VCP [HSA:7415] [KO:K13525] (FTDALS7) CHMP2B [HSA:25978] [KO:K12192] (FTDALS8) CYLD [HSA:1540] [KO:K08601] |
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| H02343 | EVEN-plus 症候群 | EVEN-plus (epiphyseal, vertebral, ear, nose, plus associated findings) syndrome is a rare multiple congenital anomalies syndrome. Mutations in the HSPA9 gene, coding for the mitochondrial chaperone mortalin ... | 先天奇形 | HSPA9 [HSA:3313] [KO:K04043] | |
| H02344 |
Cowchock 症候群 X-連鎖性シャルコー・マリー・トゥース病 4型 |
Cowchock syndrome (CMTX4) is a slowly progressive X-linked recessive disorder with axonal neuropathy, deafness, and cognitive impairment. This syndrome is associated with a mutation in AIFM1, the gene ... | 神経系疾患 | AIFM1 [HSA:9131] [KO:K04727] | |
| H02345 | 常染色体劣性遺伝性末梢神経障害 (PNRIID) | Autosomal recessive peripheral neuropathy with or without impaired intellectual development (PNRIID) is characterized by sensorymotor polyneuropathy and distal muscle weakness. It could be associated with ... | 神経系疾患 | MCM3AP [HSA:8888] [KO:K24317] | |
| H02346 | 低身長を伴う知的発達障害 | Intellectual developmental disorder (IDD) with short stature is a group of disorders characterized by developmental delay and intellectual disability. Some of them have complications in addition to short ... | 先天奇形 |
(IDDSFAS) FBXL3 [HSA:26224] [KO:K10269] (IDDABS) PUS7 [HSA:54517] [KO:K06176] (IDDSSBA) IQSEC1 [HSA:9922] [KO:K12495] (IDDSSA) WIPI2 [HSA:26100] [KO:K17908] |
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| H02347 | Thauvin-Robinet-Faivre 症候群 | Thauvin-Robinet-Faivre syndrome (TROFAS) is an autosomal recessive overgrowth syndrome associated with tall stature, intellectual disability and renal anomalies. TROFAS is caused by mutations in FIBP, ... | 先天奇形 | FIBP [HSA:9158] [KO:K26161] |