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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| H00663 | 拘束性皮膚障害 | Restrictive dermopathy (RD) is a rare, lethal autosomal recessive genodermatosis caused by mutations in either LMNA or ZMPSTE24. Manifestations include a tight, thin, translucent skin, typical face, multiple ... | 先天奇形 |
(RSDM1) ZMPSTE24 [HSA:10269] [KO:K06013] (RSDM2) LMNA [HSA:4000] [KO:K12641] |
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| H00664 | 解糖系酵素障害による貧血 | Anemia due to disorders of glycolytic enzymes is a group of red cell disorders caused by inherited abnormality of glycolytic enzymes. Neurological phenotypes have been found to be associated only with ... | 血液疾患 |
HK1 [HSA:3098] [KO:K00844] PGK1 [HSA:5230] [KO:K00927] TPI1 [HSA:7167] [KO:K01803] GPI [HSA:2821] [KO:K01810] BPGM [HSA:669] [KO:K01837] |
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| H00665 | 下顎末端異形成症 | Mandibuloacral dysplasia (MAD) is an autosomal recessive disorder characterized by postnatal growth retardation, hypoplasia of the mandible and clavicles, acro-osteolysis, and partial lipodystrophy. Affected ... | 先天奇形 |
(MADA) LMNA [HSA:4000] [KO:K12641] (MADB) ZMPSTE24 [HSA:10269] [KO:K06013] (MDPS) MTX2 [HSA:10651] [KO:K17776] |
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| H00666 | ポイツ・ジェーガーズ症候群 | Peutz-Jeghers syndrome (PJS) is an autosomal dominant condition in which multiple characteristic polyps occur throughout the gastrointestinal tract. Mucocutaneous pigmented lesions, especially of the vermilion ... | 消化器系疾患 | STK11 [HSA:6794] [KO:K07298] | |
| H00667 | 縮毛症 | Woolly hair (WH) is a group of hair shaft dystrophies characterized by fine and tightly curled hair. WH is inherited in either autosomal dominant and autosomal recessive manner. Autosomal recessive woolly ... | 先天奇形 |
(ADWH) KRT74 [HSA:121391] [KO:K07605] (ARWH1/HYPT8) LPAR6 [HSA:10161] [KO:K04273] (ARWH2/HYPT7) LIPH [HSA:200879] [KO:K19404] (ARWH3) KRT25 [HSA:147183] [KO:K07604] (WHSF) TUFT1 [HSA:7286] [KO:K27192] |
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| H00668 | グルタチオン代謝障害による貧血 | Anemia due to disorders of glutathione metabolism is a group of red cell disorders caused by inherited abnormality of enzymes of glutathione metabolism. Glucose-6-phosphate dehydrogenase (G6PD) deficiency ... | 血液疾患 |
G6PD [HSA:2539] [KO:K00036] GPX1 [HSA:2876] [KO:K00432] GCLC [HSA:2729] [KO:K11204] GSS [HSA:2937] [KO:K21456] GSR [HSA:2936] [KO:K00383] |
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| H00669 | Naxos 病 | Naxos disease (NXD) is characterized by cardiomyopathy, palmoplantar keratoderma, and woolly hair. Cardiac manifestation in patients with Naxos disease is arrhythmogenic right ventricular cardiomyopathy ... | 先天奇形 | JUP [HSA:3728] [KO:K10056] | |
| H00670 | 連珠毛 | Monilethrix is a disease of the hair cortex characterized by an unusually deformed hair shaft and alopecia. It has been named for the beaded appearance of affected hairs. Mutations in type II hair follicle-specific ... | 先天奇形 |
(MNLIX1) KRT86 [HSA:3892] [KO:K07605] (MNLIX2) KRT81 [HSA:3887] [KO:K07605] (MNLIX3) KRT83 [HSA:3889] [KO:K07605] |
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| H00671 | ネザートン症候群 | Netherton syndrome is a rare autosomal recessive genodermatosis consisting of erythroderma, ichthyosis linearis circumflexa, and hair shaft abnormalities with a bamboo shoot appearance (trichorrhexis invaginata) ... | 先天奇形 | SPINK5 [HSA:11005] [KO:K23420] | |
| H00672 | 偽鬚毛嚢炎 | Pseudofolliculitis barbae is a common skin disorder occurring predominantly in males of African origin, characterized by acneiform papules and pustules that result in keloidal scarring localized to the ... | 皮膚疾患 | KRT75 [HSA:9119] [KO:K07605] | |
| H00673 | Weill-Marchesani 症候群 | Weill-Marchesani syndrome (WMS) is a rare connective tissue disorder characterized by short stature, brachydactyly, ectopia lentis and spherophakia. Decreased joint flexibility is one of the features of ... | 先天奇形 |
(WMS1) ADAMTS10 [HSA:81794] [KO:K08625] (WMS2) FBN1 [HSA:2200] [KO:K06825] (WMS3) LTBP2 [HSA:4053] [KO:K08023] (WMS4) ADAMTS17 [HSA:170691] [KO:K08631] |
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| H00674 | ヌクレオチド代謝障害による貧血 | Abnormalities in erythrocyte nucleotide metabolism are associated with hereditary nonspherocytic hemolytic anemia. Deficiencies of adenylate kinase and pyrimidine 5'-nucleotidase shorten the red cell lifespan | 血液疾患 |
(AK) AK1 [HSA:203] [KO:K00939] (P5N) NT5C3A [HSA:51251] [KO:K24242] |
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| H00675 | 先端大腿骨頭異形成 | Acrocapitofemoral dysplasia (ACFD) is an autosomal recessive skeletal dysplasia characterized by short stature with brachydactyly, a narrow thorax, and a relatively large head. Radiographically, cone-shaped ... | 先天奇形 | IHH [HSA:3549] [KO:K11989] | |
| H00676 | 先天性原発性無水晶体症 | Congenital primary aphakia (CPA) is a rare congenital eye disorder characterized by the absence of lens. Formation of lens and lens-induced anterior structures does not take place in CPA, resulting in ... | 先天奇形 | FOXE3 [HSA:2301] [KO:K09398] | |
| H00677 | 涙腺および唾液腺の形成不全 | Aplasia of lacrimal and salivary glands (ALSG) is a rare autosomal dominant condition characterized by insufficient development of the lacrimal and salivary systems. Patients with ALSG suffer from irritable ... | 先天奇形 | FGF10 [HSA:2255] [KO:K04358] | |
| H00678 |
軟骨無発生症 IA 型 Houston-Harris 型軟骨無発生症 |
Achondrogenesis type IA is an extremely rare neonatal lethal chondrodysplasia. The disorder shows poorly ossified vertebral bodies/skull and completely lacked columnar-zone of the growth plate cartilage ... | 先天奇形 | TRIP11 [HSA:9321] [KO:K23368] | |
| H00679 |
先天性大脳白質形成不全症 ペリツェウス・メルツバッヘル病 |
Hypomyelinating leukodystrophies (HMLs) are disorders involving aberrant myelin formation in the central nervous system. They are clinically characterized by early onset nystagmus, impaired motor development ... | 先天性代謝異常症 |
(HLD1/PMD) PLP1 [HSA:5354] [KO:K17271] (HLD2) GJC2 [HSA:57165] [KO:K07619] (HLD3) AIMP1 [HSA:9255] [KO:K15437] (HLD4) HSPD1 [HSA:3329] [KO:K04077] (HLD5) FAM126A [HSA:84668] [KO:K21844] (HLD6) TUBB4A [HSA:10382] [KO:K07375] (HLD7) POLR3A [HSA:11128] [KO:K03018] (HLD8) POLR3B [HSA:55703] [KO:K03021] (HLD9) RARS1 [HSA:5917] [KO:K01887] (HLD10) PYCR2 [HSA:29920] [KO:K00286] (HLD11) POLR1C [HSA:9533] [KO:K03027] (HLD12) VPS11 [HSA:55823] [KO:K20179] (HLD13) HIKESHI [HSA:51501] [KO:K23327] (HLD14) UFM1 [HSA:51569] [KO:K12162] (HLD15) EPRS1 [HSA:2058] [KO:K14163] (HLD16) TMEM106B [HSA:54664] [KO:K25048] (HLD17) AIMP2 [HSA:7965] [KO:K15438] (HLD18) DEGS1 [HSA:8560] [KO:K04712] (HLD19) TMEM63A [HSA:9725] [KO:K21989] (HLD20) CNP [HSA:1267] [KO:K01121] (HLD21) POLR3K [HSA:51728] [KO:K03019] (HLD22) CLDN11 [HSA:5010] [KO:K06087] (HLD23) RNF220 [HSA:55182] [KO:K25174] (HLD24) ATP11A [HSA:23250] [KO:K26934] (HLD25) TMEM163 [HSA:81615] [KO:K14694] (HLD26) SLC35B2 [HSA:347734] [KO:K15276] (HLD27) POLR1A [HSA:25885] [KO:K02999] (HLD28) MAL [HSA:4118] [KO:K28033] |
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| H00680 | 原発性萌出不全 | Primary failure of tooth eruption (PFE) is a condition in which tooth retention occurs without mechanical interference. Defects in PTHR1 are the cause of PFE. | 消化器系疾患 | PTHR1 [HSA:5745] [KO:K04585] | |
| H00681 | 化膿性汗腺炎 | Acne inversa (AI), also known as hidradenitis suppurativa, is a chronic inflammatory disorder of hair follicles involving the apocrine gland-bearing areas of the body. Its characteristic features include ... | 皮膚疾患 |
(ACNINV1) NCSTN [HSA:23385] [KO:K06171] (ACNINV2) PSENEN [HSA:55851] [KO:K06170] (ACNINV3) PSEN1 [HSA:5663] [KO:K04505] |
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| H00682 | Woodhouse-Sakati 症候群 | Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disorder that encompasses alopecia, hypogonadism, diabetes mellitus, mental retardation, and extrapyramidal signs. Additional manifestations ... | 先天奇形 | C2orf37 [HSA:80067] [KO:K23331] | |
| H00683 | 先天性無爪 | Nonsyndromic anonychia is a condition in which the nails of the fingers and toes are congenitally absent without significant bone anomalies. The teeth and hair are normal. Mutation in RSPO4, a Wnt-signaling ... | 先天奇形 | RSPO4 [HSA:343637] [KO:K23099] | |
| H00684 | 先天性爪甲硬厚症 | Pachyonychia congenita (PC) is a group of autosomal dominant skin disorders characterized by hypertrophic nail dystrophy accompanied by other features of ectodermal dysplasia, prominently painful palmoplantar ... | 先天奇形 |
(PC1) KRT16 [HSA:3868] [KO:K07604] (PC2) KRT17 [HSA:3872] [KO:K07604] (PC3) KRT6A [HSA:3853] [KO:K07605] (PC4) KRT6B [HSA:3854] [KO:K07605] |
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| H00685 | BNAR 症候群 | BNAR syndrome is an autosomal recessive condition of nasal anomalies associated with renal and anorectal malformations. Patients have renal agenesis, anorectal malformations ranging from anteriorly placed ... | 先天奇形 | FREM1 [HSA:158326] [KO:K23380] | |
| H00686 | MOTA 症候群 | Manitoba oculotrichoanal (MOTA) syndrome is a rare condition characterized by aberrant anterior hairline, upper-eyelid colobomas, hypertelorism, cryptophthalmos, a bifid or notched nose, and anal anomalies ... | 先天奇形 | FREM1 [HSA:158326] [KO:K23380] | |
| H00687 | フレイザー症候群 | Fraser syndrome or cryptophthalmos is a rare autosomal recessive disorder characterized by major features such as cryptophthalmos with completely fused eyelids, partial syndactyly, renal abnormalities ... | 先天奇形 |
(FRASRS1) FRAS1 [HSA:80144] [KO:K23379] (FRASRS2) FREM2 [HSA:341640] [KO:K23380] (FRASRS3) GRIP1 [HSA:23426] [KO:K20251] |
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| H00688 | 家族性睡眠相前進症候群 | Familial advanced sleep phase syndrome (FASPS) is characterized by a stable sleep schedule with a 4-hour advance than the conventional or desired time. FASPS is associated with mutations in PER2, whose ... | 神経系疾患 |
(FASPS1) PER2 [HSA:8864] [KO:K02633] (FASPS2) CSNK1D [HSA:1453] [KO:K08959] (FASPS3) PER3 [HSA:8863] [KO:K21945] (FASPS4) TIMELESS [HSA:8914] [KO:K10997] |
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| H00689 | 睡眠相後退症候群 | Delayed sleep phase disorder (DSPD) is characterized by a 3 to 6-hour delayed sleep schedule relative to the desired. The single nucleotide polymorphism (Ala129Thr) in Arylalkylamine N-acetyltransferase ... | 神経系疾患 | CRY1 [HSA:1407] [KO:K02295] | |
| H00690 | Forsius-Eriksson 症候群 | Aland Island eye disease (AIED) is an X-linked form of ocular hypopigmentation. Affected males demonstrate nystagmus, decreased visual acuity, myopia, astigmatism, achromatopsia, and fundus hypopigmentation | 神経系疾患 | CACNA1F [HSA:778] [KO:K04853] | |
| H00691 |
水疱型先天性魚鱗癬様紅皮症 表皮剥離性角化症 |
Bullous congenital ichthyosiform erythroderma (BCIE), also known as epidermolytic hyperkeratosis (EHK), is characterized by erythema and skin blistering of the newborn. The erythema is replaced with thick ... | 先天奇形 |
(EHK1) KRT1 [HSA:3848] [KO:K07605] (EHK2A/2B) KRT10 [HSA:3858] [KO:K07604] |
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| H00692 | ロウ症候群 | Lowe Syndrome, or Oculocerebrorenal Dystrophy (OCRL) is a multisystem disorder characterised by anomalies affecting the eye, the nervous system and the kidney. This is a rare X-linked disorder caused by ... | 先天性代謝異常症 | OCRL [HSA:4952] [KO:K01099] |