Immunodeficiency 43

Preferred Label : Immunodeficiency 43;

Symbol : IMD43;

CISMeF acronym : IMD43;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : B2m deficiency; Hypoproteinemia, hypercatabolic; Beta-2-microglobulin deficiency; Mhc class I deficiency 4; MHC1D4;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the beta-2-microglobulin gene (B2M, 109700.0001);

Laboratory abnormalities : Hypoproteinemia due to hypercatabolism; Decreased serum albumin;

Prefixed ID : #241600;

Details

Origin ID

241600;

UMLS CUI

C1855796;

Automatic exact mappings (from CISMeF team)
- B2M wt Allele [NCIt concept]
- immunodeficiency 43 [DO Concept]
Currated CISMeF NLP mapping
- hypoproteinemia, hypercatabolic [MeSH concept]
- hypoproteinemia, hypercatabolic [MeSH Supplementary Concept]
DO Cross reference
- immunodeficiency 43 [DO Concept]
Genes related to phenotype
- Beta-2-microglobulin [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bronchiectasis [HPO term]
- Decreased circulating IgG level [HPO term]
- Genu varus [HPO term]
- Hypoalbuminemia [HPO term]
- Hypoplasia of the ulna [HPO term]
- Hypoproteinemia [HPO term]
- Radial bowing [HPO term]
- Recurrent respiratory infections [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Immunodeficiency by defective expression of MHC class I [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- hypoproteinemia, hypercatabolic [MeSH Supplementary Concept]
- hypoproteinemia, hypercatabolic [MeSH concept]

Keyword's position in hierarchy(ies) :

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