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 [BR:br08402]
 Congenital malformations
  Congenital malformations of skin
   H00651  Hypohidrotic ectodermal dysplasia
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
Related
pathway
hsa04064  NF-kappa B signaling pathway
hsa04060  Cytokine-cytokine receptor interaction
Gene
(ECTD1) ED1 [HSA:1896] [KO:K05480]
(ECTD10A/10B) EDAR [HSA:10913] [KO:K05162]
(ECTD11A/11B) EDARADD [HSA:128178] [KO:K23324]
(ECTD12) KDF1 [HSA:126695] [KO:K23346]
Other DBs
ICD-11: LD27.0
ICD-10: Q82.4
MeSH: D053358 D053359 D053360
OMIM: 305100 129490 224900 614940 614941 617337
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
  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
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