Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant

Preferred Label : Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant;

Symbol : ECTD11A;

CISMeF acronym : ECTD11A; HED;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ectodermal dysplasia, hypohidrotic, autosomal dominant; HED;

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 (summary by Cluzeau et al., 2011). For a discussion of genetic heterogeneity of hypohidrotic/anhidrotic ectodermal dysplasia, see 305100.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the EDAR-associated death domain gene (EDARADD, 606603.0002);

Neoplasia : Ovarian teratomas containing hair and sebaceous and sweat glands developed in 1 patient;

Prefixed ID : #614940;

Details

Origin ID

614940;

UMLS CUI

C3541517;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant hypohidrotic ectodermal dysplasia [ICD-11 More detail]
- EDA wt Allele [NCIt concept]
- Extradural hematoma [MedDRA LLT]
- HAND2 wt Allele [NCIt concept]
- Hypohidrotic ectodermal dysplasia [ORDO Disease]
- ectodysplasin A [ORDO Gene]
- gap junction protein beta 6 [ORDO Gene]
- hematoma, epidural, cranial [MeSH Descriptor]
Currated CISMeF NLP mapping
- ectodermal dysplasia 11A [DO Concept]
DO Cross reference
- ectodermal dysplasia 11A [DO Concept]
False automatic mappings
- Dacarbazine/Etoposide/Hydroxyurea [NCIt concept]
Genes related to phenotype
- Edar-associated death domain [OMIM gene]
HPO term(s)
- Abnormal number of teeth [HPO term]
- Abnormality of the forehead [HPO term]
- Absent hair [HPO term]
- Absent nipple [HPO term]
- Anhidrosis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Dry skin [HPO term]
- Everted lower lip vermilion [HPO term]
- Hypodontia [HPO term]
- Hypohidrotic ectodermal dysplasia [HPO term]
- Sparse hair [HPO term]
ORDO concept(s)
- Autosomal dominant hypohidrotic ectodermal dysplasia [ORDO Disease]
- Hypohidrotic ectodermal dysplasia [ORDO Disease]
See also inter- (CISMeF)
- Autosomal dominant hypohidrotic ectodermal dysplasia [ORDO Disease]
- ectodermal dysplasia 3, anhidrotic [MeSH Descriptor]
- ectodermal dysplasia 3, anhidrotic [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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