KEGG DISEASE: Hypohidrotic ectodermal dysplasia

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

NF-kappa B signaling pathway

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:

ICD-10:

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

LinkDB

» Japanese version

DBGET integrated database retrieval system