Ectodermal dysplasia and immunodeficiency 1

Preferred Label : Ectodermal dysplasia and immunodeficiency 1;

Symbol : EDAID1;

CISMeF acronym : HED-ID; XHMED; HEDID; EDAID1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : HEDID; XHMED; Ectodermal dysplasia, anhidrotic, with immune deficiency; Ectodermal dysplasia, hypohidrotic, with immune deficiency; Hyper-igm immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia; Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema; OLEDAID;

Description : Hypohidrotic ectodermal dysplasia (HED; 305100), a congenital disorder of teeth, hair, and eccrine sweat glands, is usually inherited as an X-linked recessive trait, although rarer autosomal dominant (129490) and autosomal recessive (224900) forms exist.;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the inhibitor of nuclear factor kappa B kinase, regulatory subunit gamma gene (IKBKG, 300248.0002);

Prefixed ID : #300291;

Details

Origin ID

300291;

UMLS CUI

C1846008;

Automatic exact mappings (from CISMeF team)
- Hypohidrotic ectodermal dysplasia [ORDO Disease]
Currated CISMeF NLP mapping
- Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome [ORDO Disease]
- Ectodermal Dysplasia and Immunodeficiency 1 [NCIt concept]
- Hyper-IgM immunodeficiency, X-Linked, with ectodermal dysplasia, hypohidrotic [MeSH concept]
- Hyper-IgM immunodeficiency, X-Linked, with ectodermal dysplasia, hypohidrotic [MeSH Supplementary Concept]
DO Cross reference
- hypohidrotic ectodermal dysplasia [DO Concept]
Genes related to phenotype
- Inhibitor of nuclear factor kappa-b kinase, regulatory subunit gamma [OMIM gene]
HPO term(s)
- Abnormal circulating IgG level [HPO term]
- Aplasia of the eccrine sweat glands [HPO term]
- Conical incisor [HPO term]
- Dysgammaglobulinemia [HPO term]
- Ectodermal dysplasia [HPO term]
- Frontal bossing [HPO term]
- Immunodeficiency [HPO term]
- Increased circulating IgA level [HPO term]
- Increased circulating IgM level [HPO term]
- Lymphedema [HPO term]
- Molluscum contagiosum [HPO term]
- Recurrent bacterial infections [HPO term]
- Reduced natural killer cell activity [HPO term]
- Severe cytomegalovirus infection [HPO term]
- Sparse hair [HPO term]
- X-linked recessive inheritance [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)
- Anhidrotic ectodermal dysplasia with immune deficiency (disorder) [SNOMED CT concept]
- Ectodermal Dysplasia and Immunodeficiency [NCIt concept]
- Ectodermal Dysplasia and Immunodeficiency 1 [NCIt concept]
- Ectodermal dysplasia, hypohidrotic, with immune deficiency [MeSH concept]
- Hyper-IgM immunodeficiency, X-Linked, with ectodermal dysplasia, hypohidrotic [MeSH concept]
- Hyper-IgM immunodeficiency, X-Linked, with ectodermal dysplasia, hypohidrotic [MeSH Supplementary Concept]
- Hypohidrotic ectodermal dysplasia with immunodeficiency [ORDO Disease]
- ectodermal dysplasia, hypohidrotic, with immune deficiency [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Anhidrotic ectodermal dysplasia with immune deficiency (disorder) [SNOMED CT concept]
- Ectodermal Dysplasia and Immunodeficiency [NCIt concept]
- Ectodermal dysplasia, hypohidrotic, with immune deficiency [MeSH concept]
- Hypohidrotic ectodermal dysplasia with immunodeficiency [ORDO Disease]
- ectodermal dysplasia, hypohidrotic, with immune deficiency [MeSH Supplementary Concept]

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