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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| H02708 | Baralle-Macken syndrome 症候群 | Baralle-Macken syndrome (BARMACS) is a novel severe neurodevelopmental syndrome with cataracts and variable microcephaly. It has been reported that mutations in COPB1 cause this disease. COPB1 encodes ... | 先天奇形 | COPB1 [HSA:1315] [KO:K17301] | |
| H02709 | アミノアシルtRNA合成酵素の欠損を伴う神経発達障害 | The aminoacyl-tRNA synthetases (aaRSs) are an evolutionarily ancient family of enzymes that catalyze the esterification reaction linking a transfer RNA (tRNA) with its cognate amino acid matching the anticodon ... | 先天奇形 |
(NEDMAS) SARS1 [HSA:6301] [KO:K01875] (NDMSCA) VARS1 [HSA:7407] [KO:K01873] (NEDMILEG) NARS1 [HSA:4677] [KO:K01893] (NEMMLAS) WARS2 [HSA:10352] [KO:K01867] (NEDMSBA) WARS1 [HSA:7453] [KO:K01867] |
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| H02710 | Yuksel-Vogel-Bauer 症候群 | Yuksel-Vogel-Bauer syndrome (YUVOB) is a multisystemic disorder caused by mutations in DLG5. Patients have a variety of phenotypes including cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities ... | 先天奇形 | DLG5 [HSA:9231] [KO:K24050] | |
| H02711 | アセチル-CoA カルボキシラーゼ α 欠損症 | Acetyl-CoA carboxylase-alpha deficiency (ACACAD) is a rare autosomal recessive inborn error of metabolism caused by mutations in ACACA. ACACAD is characterized by hypotonia, motor and intellectual developmental ... | 先天性代謝異常症 | ACACA [HSA:31] [KO:K11262] | |
| H02712 | Li-Campeau 症候群 | Li-Campeau syndrome (LICAS) is a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism. Mutations in UBR7 cause this disease. UBR7 is an E3 ligase protein with recognizable UBR-box and ... | 先天奇形 | UBR7 [HSA:55148] [KO:K11979] | |
| H02713 | 毛髪の異常と先端角化症を伴う炎症性多形皮膚萎縮症 | Inflammatory poikiloderma with hair abnormalities and acral keratoses (IPHAK) is a novel autosomal recessive dermatological condition caused by mutations in LTV1. LTV1 encodes one of the ribosome biogenesis ... | 先天奇形 | LTV1 [HSA:84946] [KO:K14798] | |
| H02714 | Tessadori-Bicknell-van Haaften 神経発達症候群 | Tessadori-Bicknell-van Haaften neurodevelopmental syndrome (TEBIVANED) is a novel syndrome caused by missense mutations in H4 genes. This syndrome is characterized by intellectual disability, motor and ... | 先天奇形 |
(TEBIVANED1) H4C3 [HSA:8364] [KO:K11254] (TEBIVANED2) H4C11 [HSA:8363] [KO:K11254] (TEBIVANED3) H4C5 [HSA:8367] [KO:K11254] (TEBIVANED4) H4C9 [HSA:8294] [KO:K11254] |
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| H02715 | ユビキチン・プロテアソーム系の欠損を伴う神経発達障害 | The ubiquitin-proteasome system (UPS) is the major proteolytic system that controls protein degradation and it regulates many cellular processes, such as cell division, gene expression and signal transduction ... | 先天奇形 |
(NEDSG) UFC1 [HSA:51506] [KO:K12165] (NDHSAL) HECW2 [HSA:57520] [KO:K12168] (NEDAUS) CUL3 [HSA:8452] [KO:K03869] (NEDAMSS) IRF2BPL [HSA:64207] [KO:K22383] (NEDHMS) UBE4A [HSA:9354] [KO:K10596] (NEDSMB) UBE3C [HSA:9690] [KO:K10589] (NEDSSCC) HECTD4 [HSA:283450] [KO:K17849] (NEDLBF) UBAP2L [HSA:9898] [KO:K26545] (NSDVS1/2) SPOP [HSA:8405] [KO:K10523] (NEDJED) FBXW11 [HSA:23291] [KO:K03362] (BURHAS) SIAH1 [HSA:6477] [KO:K04506] (NEDFIH) NAE1 [HSA:8883] [KO:K04532] (MCAND) OTUD5 [HSA:55593] [KO:K12655] (NEDHS) OTUD7A [HSA:161725] [KO:K11860] (NEDMHAL) PSMB1 [HSA:5689] [KO:K02732] (STISS) PSMD12 [HSA:5718] [KO:K03035] (BKAH) PSMC1 [HSA:5700] [KO:K03062] (CAFDADD) TRAF7 [HSA:84231] [KO:K10646] (NEDBES) FEM1B [HSA:10116] [KO:K10349] (TYMAS) FBXO22 [HSA:26263] [KO:K10302] (NEDSBH) UBR5 [HSA:51366] [KO:K10593] |
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| H02716 | ベッカー母斑症候群 | Becker nevus syndrome (BNS) is a epidermal nevus syndrome characterized by the presence of a particular type of organoid epithelial nevus showing circumscribed hyperpigmentation with hypertrichosis, and ... | 先天奇形 | ACTB [HSA:60] [KO:K05692] | |
| H02717 | Contractures, pterygia, and spondylocarpotarsal fusion syndrome | Contractures, pterygia, and spondylocarpotarsal fusion syndrome (CPSFS) is a myosinopathy characterized by contractures of proximal and distal joints, pterygia involving the neck, elbows, fingers, and/or ... | 先天奇形 | MYH3 [HSA:4621] [KO:K24220] | |
| H02718 | Autosomal dominant pontine microangiopathy and leukoencephalopathy | Autosomal dominant pontine microangiopathy and leukoencephalopathy (PADMAL) is a rare hereditary cerebral small vessel disease characterized by multiple small infarctions in the pons. Mutations causing ... | 先天奇形 | COL4A1 [HSA:1282] [KO:K06237] | |
| H02719 | 多巣性線維筋性異形成 | Multifocal fibromuscular dysplasia (FMDMF) is one form of dysplasia-associated arterial disease characterized histologically by medial fibroplasia, and angiographically by multiple arterial stenoses with ... | 循環器系疾患 | COL5A1 [HSA:1289] [KO:K19721] | |
| H02720 | Meester-Loeys 症候群 | Meester-Loeys syndrome (MRLS) is an X-linked thoracic aortic aneurysm and dissection (TAAD) syndrome. In addition to the aorta, aneurysms in the brain, pulmonary artery, and ductus arteriosus have been ... | 循環器系疾患 | BGN [HSA:633] [KO:K08118] | |
| H02721 | Scapulohumeroperoneal myopathy | Scapulohumeroperoneal myopathy (SHPM) is an autosomal dominant slowly progressive scapuloperoneal neuromuscular disorder. Clinical characteristics include mild lower facial weakness, foot drop due to foot ... | 神経系疾患; 筋骨格疾患 | ACTA1 [HSA:58] [KO:K10354] | |
| H02722 | 面皰母斑 | Nevus comedonicus (NC) is an organoid epidermal nevus characterized by monomorphic, large, open comedones occurring on a noninflammatory background and following the lines of Blaschko. The cause of NC ... | 先天奇形 | NEK9 [HSA:91754] [KO:K20878] | |
| H02723 | 巨頭/自閉症症候群 | Macrocephaly/autism syndrome refers to a subset of individuals within the autism spectrum with extreme macrocephaly or head circumference more than two standard deviations above the mean. The association ... | 先天奇形 | PTEN [HSA:5728] [KO:K01110] | |
| H02724 | Combined osteogenesis imperfecta and Ehlers-Danlos syndrome | Combined osteogenesis imperfecta and Ehlers-Danlos syndrome (OIEDS) is a generalized connective tissue disorder characterized by features of both osteogenesis imperfecta (bone fragility, long bone fractures ... | 先天奇形 |
(OIEDS1) COL1A1 [HSA:1277] [KO:K06236] (OIEDS2) COL1A2 [HSA:1278] [KO:K06236] |
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| H02725 | 心臓-手症候群 | Heart-hand syndrome (HHS) is a clinically and genetically heterogeneous disorder characterized by the co-occurrence of a congenital cardiac disease and limb malformations. HHS includes the most common ... | 先天奇形 |
(HOS) TBX5 [HSA:6910] [KO:K10179] (HHS-S) LMNA [HSA:4000] [KO:K12641] |
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| H02726 | Kaya-Barakat-Masson 症候群 | Kaya-Barakat-Masson syndrome (KABAMAS) is a recently identified neurodevelopmental disorder characterized by severe global developmental delay, epilepsy, movement disorder, and microcephaly. It has been ... | 先天奇形 | YIF1B [HSA:90522] [KO:K20362] | |
| H02727 | トリオキナーゼ/FMNシクラーゼ欠損症候群 | Triokinase and FMN cyclase deficiency syndrome (TKFCD) is a multisystem disease variably including cataracts, developmental delay, liver dysfunction, cerebellar hypoplasia, and fatal cardiomyopathy with ... | 先天性代謝異常症 | TKFC [HSA:26007] [KO:K00863] | |
| H02728 | Marbach-Schaaf 神経発達症候群 | Marbach-Schaaf neurodevelopmental syndrome (MASNS) is a neurodevelopmental disorder with global developmental delay, autism spectrum disorder, and apraxia/dyspraxia. It has been reported mutations in PRKAR1B ... | 先天奇形 | PRKAR1B [HSA:5575] [KO:K04739] | |
| H02729 | Ain-Naz 型多発性遺骨症 | Ain-Naz type of dysostosis multiplex (DMAN) is a severe inherited skeletal dysplasia which resembles GlcNAc-1-phosphotransferase (GNPT) deficiency [DS:H00143]. It has been reported that mutations in LYSET/TMEM251 ... | 先天奇形 | LYSET [HSA:26175] [KO:K26747] | |
| H02730 | 重症先天性肝疾患 | Severe congenital liver disease (SCOLIV) is a multisystemic syndrome characterized by severe neonatal liver cirrhosis. The recessive loss-of-function mutations in FOCAD cause this disease. It has been ... | 消化器系疾患 | FOCAD [HSA:54914] [KO:K27498] | |
| H02731 | 乳児一過性高トリグリセリド血症 | Transient infantile hypertriglyceridemia (HTGTI) is a rare hypertriglyceridemia in infancy caused by mutations in GPD1 encoding glycerol-3-phosphate dehydrogenase. GPD1 catalyzes the reversible redox reaction ... | 先天性代謝異常症 | GPD1 [HSA:2819] [KO:K00006] | |
| H02732 | ペルゲル・フエット核異常を伴う（または伴わない）肢根型骨格異形成 | Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly (SKPHA), also known as regressive spondylometaphyseal dysplasia, is an autosomal recessive disorder characterized by both short stature ... | 先天奇形 | LBR [HSA:3930] [KO:K19532] | |
| H02733 | 発育不全・低形成腎・脱毛および特異的顔貌 | Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies (GKAF) is a novel autosomal recessive multisystem syndrome. It has been reported that a ZPR1 mutation is associated with GKAF. ... | 先天奇形 | ZPR1 [HSA:8882] [KO:K06874] | |
| H02734 | Hengel-Maroofian-Schols 症候群 | Hengel-Maroofian-Schols syndrome (HEMARS) is an autosomal recessive syndromic neurodevelopmental disorder characterized by a global developmental delay, pyramidal tract involvement, microcephaly, short ... | 先天奇形 | BCAS3 [HSA:54828] [KO:K24550] | |
| H02735 | 悪性線維性組織球腫を伴う骨幹部骨髄腔狭窄症 | Diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMSMFH) is a rare autosomal dominant syndrome characterized by bone dysplasia, myopathy, and bone cancer. It has been reported that mutations ... | 先天奇形 | MTAP [HSA:4507] [KO:K00772] | |
| H02736 | 銅輸送の異常による神経変性およびてんかん発作 | Neurodegeneration and seizures due to copper transport defect (NSCT) is an autosomal recessive infantile-onset syndrome. The condition is characterized by hypotonia, global developmental delay, seizures ... | 神経系疾患 | SLC31A1 [HSA:1317] [KO:K14686] | |
| H02737 | 家族性多結節性甲状腺腫 | Multinodular goiter (MNG) is a common disorder characterized by a nodular enlargement of the thyroid gland. As opposed to toxic MNG, the non-toxic subtype does not result from an inflammatory or neoplastic ... | 内分泌代謝疾患 | (MNG1) DICER1 [HSA:23405] [KO:K11592] |