Ectodermal dysplasia and immunodeficiency 2

Preferred Label : Ectodermal dysplasia and immunodeficiency 2;

Symbol : EDAID2;

CISMeF acronym : EDAID2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency, autosomal dominant; Ectodermal dysplasia, hypohidrotic, with immunodeficiency 2; Ectodermal dysplasia, anhidrotic, with immunodeficiency 2;

Description : Mutations in the NFKBIA gene result in functional impairment of NFKB1 (164011), a master transcription factor required for normal activation of immune responses. Interruption of NFKB1 signaling results in decreased production of proinflammatory cytokines and certain interferons, rendering patients susceptible to infection (McDonald et al., 2007).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the nuclear factor kappa-B inhibitor, alpha gene (NFKBIA, 164008.0001);

Prefixed ID : #612132;

Details

Origin ID

612132;

UMLS CUI

C2677481;

Automatic exact mappings (from CISMeF team)
- Hypohidrotic ectodermal dysplasia [ORDO Disease]
Currated CISMeF NLP mapping
- Ectodermal Dysplasia and Immunodeficiency 2 [NCIt concept]
- ectodermal dysplasia, anhidrotic, with T-Cell immunodeficiency, autosomal dominant [MeSH Supplementary Concept]
- ectodermal dysplasia, anhidrotic, with T-Cell immunodeficiency, autosomal dominant [MeSH concept]
Genes related to phenotype
- Nuclear factor kappa-b inhibitor, alpha [OMIM gene]
HPO term(s)
- Anhidrosis [HPO term]
- Anhidrotic ectodermal dysplasia [HPO term]
- Aplasia of the sweat glands [HPO term]
- Autosomal dominant inheritance [HPO term]
- Concave nasal ridge [HPO term]
- Conical tooth [HPO term]
- Defective production of NFKB1-dependent cytokines [HPO term]
- Frontal bossing [HPO term]
- Heat intolerance [HPO term]
- Hypodontia [HPO term]
- Hypohidrosis [HPO term]
- Infantile onset [HPO term]
- Recurrent infection of the gastrointestinal tract [HPO term]
- Recurrent respiratory infections [HPO term]
- Sparse hair [HPO term]
ORDO concept(s)
- Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome [ORDO Disease]
- Hypohidrotic ectodermal dysplasia [ORDO Disease]
- Hypohidrotic ectodermal dysplasia with immunodeficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ectodermal Dysplasia and Immunodeficiency 2 [NCIt concept]
- ectodermal dysplasia, anhidrotic, with T-Cell immunodeficiency, autosomal dominant [MeSH Supplementary Concept]
- ectodermal dysplasia, anhidrotic, with T-Cell immunodeficiency, autosomal dominant [MeSH concept]
Validated automatic mappings to NTBT
- Hypohidrotic ectodermal dysplasia with immunodeficiency [ORDO Disease]

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