H00651 | |
H number | H00651 |
Name | Hypohidrotic ectodermal dysplasia |
Description | 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. |
Category | Congenital malformation |
Network | - |
Gene | (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] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: LD27.0 ICD-10: Q82.4 MeSH: D053358 D053359 D053360 OMIM: 305100 129490 224900 614940 614941 617337 618535 |
Reference | PMID:19504607 AUTHORS Priolo M TITLE Ectodermal dysplasias: an overview and update of clinical and molecular-functional mechanisms. JOURNAL Am J Med Genet A 149A:2003-13 (2009) DOI:10.1002/ajmg.a.32804 PMID:12823289 AUTHORS Lamartine J TITLE Towards a new classification of ectodermal dysplasias. JOURNAL Clin Exp Dermatol 28:351-5 (2003) DOI:10.1046/j.1365-2230.2003.01319.x PMID:8696334 (ECTD1) AUTHORS 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 TITLE X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. JOURNAL Nat Genet 13:409-16 (1996) DOI:10.1038/ng0895-409 PMID:10431241 (ECTD10A/10B) AUTHORS Monreal AW, Ferguson BM, Headon DJ, Street SL, Overbeek PA, Zonana J TITLE Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. JOURNAL Nat Genet 22:366-9 (1999) DOI:10.1038/11937 PMID:17354266 (ECTD11A) AUTHORS Bal E, Baala L, Cluzeau C, El Kerch F, Ouldim K, Hadj-Rabia S, Bodemer C, Munnich A, Courtois G, Sefiani A, Smahi A TITLE Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus. JOURNAL Hum Mutat 28:703-9 (2007) DOI:10.1002/humu.20500 PMID:11780064 (ECTD11B) AUTHORS Headon DJ, Emmal SA, Ferguson BM, Tucker AS, Justice MJ, Sharpe PT, Zonana J, Overbeek PA TITLE Gene defect in ectodermal dysplasia implicates a death domain adapter in development. JOURNAL Nature 414:913-6 (2001) DOI:10.1038/414913a PMID:27838789 (ECTD12) AUTHORS Shamseldin HE, Khalifa O, Binamer YM, Almutawa A, Arold ST, Zaidan H, Alkuraya FS TITLE KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia. JOURNAL Hum Genet 136:99-105 (2017) DOI:10.1007/s00439-016-1741-z PMID:30425301 (ECTD15) AUTHORS 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 TITLE Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin. JOURNAL Genet Med 21:1559-1567 (2019) DOI:10.1038/s41436-018-0355-3 |