Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive

Preferred Label : Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive;

Symbol : ECTD10B;

CISMeF acronym : ECTD10B; EDA; HED;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : EDA; HED; Ectodermal dysplasia, hypohidrotic; Ectodermal dysplasia, anhidrotic;

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 recessive;

Molecular basis : Caused by mutation in the ectodysplasin anhidrotic receptor gene (EDAR, 604095.0001); Caused by mutation in the EDAR-associated death domain gene (EDARADD, 606603.0001);

Prefixed ID : #224900;

Details

Origin ID

224900;

UMLS CUI

C3887494;

Automatic exact mappings (from CISMeF team)
- Anhidrotic ectodermal dysplasia [PASCAL descriptor]
- Anhidrotic ectodermal dysplasia [HPO term]
- Autosomal dominant hypohidrotic ectodermal dysplasia syndrome (disorder) [SNOMED CT concept]
- EDA Gene [NCIt concept]
- EDA wt Allele [NCIt concept]
- Ectodermal dysplasia (anhidrotic) [ICD-10 Sub-category]
- Ectodermal dysplasia (anhidrotic) [ICD-10 Sub-category (who)]
- Ectodermal dysplasia with hair-tooth-nail-sweating defect (disorder) [SNOMED CT concept]
- Extradural hematoma [MedDRA LLT]
- HAND2 wt Allele [NCIt concept]
- Hypohidrotic ectodermal dysplasia [ORDO Disease]
- Hypohidrotic ectodermal dysplasia [ICD-11 Sub-sub category]
- Hypohidrotic ectodermal dysplasia [MedDRA LLT]
- ectodermal dysplasia [MeSH Descriptor]
- ectodysplasin A [ORDO Gene]
- gap junction protein beta 6 [ORDO Gene]
- hematoma, epidural, cranial [MeSH Descriptor]
- hypohidrotic ectodermal dysplasia [DO Concept]
Currated CISMeF NLP mapping
- ectodermal dysplasia 10B [DO Concept]
DO Cross reference
- ectodermal dysplasia 10B [DO Concept]
- hypohidrotic ectodermal dysplasia [DO Concept]
False automatic mappings
- Dacarbazine/Etoposide/Hydroxyurea [NCIt concept]
Genes related to phenotype
- Ectodysplasin a receptor [OMIM gene]
HPO term(s)
- Abnormality of dental morphology [HPO term]
- Anhidrosis [HPO term]
- Anodontia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Depressed nasal bridge [HPO term]
- Everted lower lip vermilion [HPO term]
- Everted upper lip vermilion [HPO term]
- Flattened nasal bridge [HPO term]
- Frontal bossing [HPO term]
- Heat intolerance [HPO term]
- Heterogeneous [HPO term]
- Hypodontia [HPO term]
- Hypohidrosis [HPO term]
- Hypohidrotic ectodermal dysplasia [HPO term]
- Hypotrichosis [HPO term]
- Microdontia [HPO term]
- Periorbital hyperpigmentation [HPO term]
- Periorbital wrinkles [HPO term]
- Prominent lips [HPO term]
- Sparse and thin eyebrow [HPO term]
- Sparse eyebrows and eyelashes [HPO term]
- Sparse eyelashes [HPO term]
- Sparse hair [HPO term]
- Thick vermilion border [HPO term]
ORDO concept(s)
- Autosomal recessive hypohidrotic ectodermal dysplasia [ORDO Disease]
- Hypohidrotic ectodermal dysplasia [ORDO Disease]
See also inter- (CISMeF)
- EDAR wt Allele [NCIt concept]
- ectodermal dysplasia 1, anhidrotic [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Hypohidrotic ectodermal dysplasia [HPO term]
- Hypohidrotic ectodermal dysplasia [ORDO Disease]
- anhidrotic ectodermal dysplasia [MeSH concept]

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