Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive

Preferred Label : Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive;

Symbol : ECTD11B;

CISMeF acronym : ECTD11B; 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 EDAR-associated death domain gene (EDARADD, 606603.0001);

Prefixed ID : #614941;

Détails

Origin ID

614941;

UMLS CUI

C3539920;

Automatic exact mappings (from CISMeF team)
- Anhidrotic ectodermal dysplasia [PASCAL descriptor]
- EDA Gene [NCIt concept]
- Ectodermal dysplasia (anhidrotic) [ICD-10 Sub-category]
- 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]
- ectodermal dysplasia [MeSH Descriptor]
- gap junction protein beta 6 [ORDO Gene]
- hematoma, epidural, cranial [MeSH Descriptor]
Currated CISMeF NLP mapping
- ectodermal dysplasia 11B [DO Concept]
DO Cross reference
- ectodermal dysplasia 11B [DO Concept]
False automatic mappings
- Anhidrotic ectodermal dysplasia [HPO term]
- Dacarbazine/Etoposide/Hydroxyurea [NCIt concept]
- Ectodermal dysplasia (anhidrotic) [ICD-10 Sub-category (who)]
- Hypohidrotic ectodermal dysplasia [HPO term]
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]
- Abnormality of the nose [HPO term]
- Absent nipple [HPO term]
- Anhidrosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Conical tooth [HPO term]
- Depressed nasal bridge [HPO term]
- Dry skin [HPO term]
- Ectodermal dysplasia [HPO term]
- Everted lower lip vermilion [HPO term]
- Hypodontia [HPO term]
- Hypoplastic nipples [HPO term]
- Periorbital wrinkles [HPO term]
- Recurrent respiratory infections [HPO term]
- Rhinitis [HPO term]
- Sparse body hair [HPO term]
- Sparse eyelashes [HPO term]
- Sparse hair [HPO term]
- Sparse lateral eyebrow [HPO term]
- Sparse scalp hair [HPO term]
- Xerostomia [HPO term]
ORDO concept(s)
- Autosomal recessive hypohidrotic ectodermal dysplasia [ORDO Disease]
- Hypohidrotic ectodermal dysplasia [ORDO Disease]
See also inter- (CISMeF)
- Autosomal dominant hypohidrotic ectodermal dysplasia syndrome (disorder) [SNOMED CT concept]
- EDA wt Allele [NCIt concept]
- ectodermal dysplasia 1, anhidrotic [MeSH Descriptor]
- ectodysplasin A [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Hypohidrotic ectodermal dysplasia [ICD-11 Sub-sub category]
- Hypohidrotic ectodermal dysplasia [MedDRA LLT]
- anhidrotic ectodermal dysplasia [MeSH concept]
- hypohidrotic ectodermal dysplasia [DO Concept]

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