KEGG   DISEASE: Hypohidrotic ectodermal dysplasia
Entry
H00651                      Disease                                
Name
Hypohidrotic ectodermal dysplasia
  Subgroup
Anhidrotic ectodermal dysplasia
  Supergrp
Ectodermal dysplasia [DS:H02456]
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
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD27  Syndromes with skin or mucosal anomalies as a major feature
    H00651  Hypohidrotic ectodermal dysplasia
Pathway
hsa04064  NF-kappa B signaling pathway
hsa04060  Cytokine-cytokine receptor interaction
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]
Other DBs
ICD-11: LD27.0
ICD-10: Q82.4
MeSH: D053358 D053359 D053360
OMIM: 305100 129490 224900 614940 614941 617337 618535
Reference
  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
Reference
  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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
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