KEGG   DISEASE: H00651Help
Entry
H00651                      Disease                                

Name
Ectodermal dysplasia, including:
Ectodermal dysplasia, anhidrotic;
Ectodermal dysplasia, hypohidrotic
Description
These ectodermal dysplasias are 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. Hypohidrotic ectodermal dysplasia is milder with sparse hair and sweat glands and oligodontia.
Category
Skin and connective tissue disease
BRITE hierarchy
Pathway
Cytokine-cytokine receptor interaction
Gene
(X-linked) ED1 [HSA:1896] [KO:K05480]
(autosomal) EDAR [HSA:10913] [KO:K05162]
(autosomal) EDARADD [HSA:128178]
Other DBs
Reference
PMID:19504607 (description, gene)
  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)
Reference
PMID:12823289 (description, gene)
  Authors
Lamartine J
  Title
Towards a new classification of ectodermal dysplasias.
  Journal
Clin Exp Dermatol 28:351-5 (2003)

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