| H00651 | |
| H番号 | H00651 |
| 名称 | 発汗低下を伴う先天性外胚葉形成異常症 |
| 概要 | Hypohidrotic ectodermal dysplasia (HED) is a condition characterized by major involvement of ectodermal structures with perturbed formation and maturation of teeth, hair, and sweat glands. HED is caused by defective epithelial-mesenchymal interaction that involves the Ectodysplasin/Edar/Edaradd signaling pathway. Congenital anhidrotic ectodermal dysplasia is a sex-linked disorder characterized by incomplete development of the dermis, resulting in the absence of hair follicles and sweat glands with anodontia in affected males. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (ECTD1) EDA [HSA:1896] [KO:K05480] (ECTD10A/10B) EDAR [HSA:10913] [KO:K05162] (ECTD11A/11B) EDARADD [HSA:128178] [KO:K23324] (ECTD12) KDF1 [HSA:126695] [KO:K23346] (ECTD15) CST6 [HSA:1474] [KO:K13902] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD27.0 ICD-10: Q82.4 MeSH: D053358 D053359 D053360 OMIM: 305100 129490 224900 614940 614941 617337 618535 |
| 文献 | PMID:19504607 著者 Priolo M タイトル Ectodermal dysplasias: an overview and update of clinical and molecular-functional mechanisms. 雑誌 Am J Med Genet A 149A:2003-13 (2009) DOI:10.1002/ajmg.a.32804 PMID:12823289 著者 Lamartine J タイトル Towards a new classification of ectodermal dysplasias. 雑誌 Clin Exp Dermatol 28:351-5 (2003) DOI:10.1046/j.1365-2230.2003.01319.x PMID:8696334 (ECTD1) 著者 Kere J, Srivastava AK, Montonen O, Zonana J, Thomas N, Ferguson B, Munoz F, Morgan D, Clarke A, Baybayan P, Chen EY, Ezer S, Saarialho-Kere U, de la Chapelle A, Schlessinger D タイトル X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. 雑誌 Nat Genet 13:409-16 (1996) DOI:10.1038/ng0895-409 PMID:10431241 (ECTD10A/10B) 著者 Monreal AW, Ferguson BM, Headon DJ, Street SL, Overbeek PA, Zonana J タイトル Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. 雑誌 Nat Genet 22:366-9 (1999) DOI:10.1038/11937 PMID:17354266 (ECTD11A) 著者 Bal E, Baala L, Cluzeau C, El Kerch F, Ouldim K, Hadj-Rabia S, Bodemer C, Munnich A, Courtois G, Sefiani A, Smahi A タイトル Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus. 雑誌 Hum Mutat 28:703-9 (2007) DOI:10.1002/humu.20500 PMID:11780064 (ECTD11B) 著者 Headon DJ, Emmal SA, Ferguson BM, Tucker AS, Justice MJ, Sharpe PT, Zonana J, Overbeek PA タイトル Gene defect in ectodermal dysplasia implicates a death domain adapter in development. 雑誌 Nature 414:913-6 (2001) DOI:10.1038/414913a PMID:27838789 (ECTD12) 著者 Shamseldin HE, Khalifa O, Binamer YM, Almutawa A, Arold ST, Zaidan H, Alkuraya FS タイトル KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia. 雑誌 Hum Genet 136:99-105 (2017) DOI:10.1007/s00439-016-1741-z PMID:30425301 (ECTD15) 著者 van den Bogaard EHJ, van Geel M, van Vlijmen-Willems IMJJ, Jansen PAM, Peppelman M, van Erp PEJ, Atalay S, Venselaar H, Simon MEH, Joosten M, Schalkwijk J, Zeeuwen PLJM タイトル Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin. 雑誌 Genet Med 21:1559-1567 (2019) DOI:10.1038/s41436-018-0355-3 |