Preferred Label : Ectodermal dysplasia 1, hypohidrotic, X-linked;
Symbol : XHED;
CISMeF acronym : ECTD1; EDA; EDA1; ED1; HED1; XHED; XLHED;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Ectodermal dysplasia 1; EDA1; Ectodermal dysplasia, hypohidrotic, 1; ED1; Christ-siemens-touraine syndrome; Cst syndrome; EDA; Ectodermal dysplasia 1, hypohidrotic/hair/tooth type, X-linked; Ectodermal dysplasia, anhidrotic, X-linked; ECTD1; XLHED; HED1;
Description : Some ectodermal dysplasias are here classified as congenital disorders characterized
by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and
sweat glands) without other systemic findings. Hypohidrotic, or anhidrotic, ectodermal
dysplasia is characterized by a triad of signs comprising sparse hair (hypotrichosis),
abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis
or hypohidrosis). Typical clinical manifestations also include dryness of the skin,
eyes, airways, and mucous membranes presumably due to the defective development of
several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with
dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent
lips) and occasionally with absent nipples. Ectodermal dysplasia-1, due to mutation
in the EDA gene, is the most frequent form of hypohidrotic ectodermal dysplasia (summary
by Cluzeau et al., 2011). - Genetic Heterogeneity of Hypohidrotic Ectodermal Dysplasia
There are also autosomal recessive forms of HED (ECTD10B, 224900;;
Inheritance : X-linked recessive;
Molecular basis : Caused by mutation in the ectodysplasin A gene (ED1, 300451.0001);
Prefixed ID : #305100;
Origin ID : 305100;
UMLS CUI : C0162359;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
See also inter- (CISMeF)
Semantic type(s)
UMLS correspondences (same concept)
Validated automatic mappings to NTBT