Agammaglobulinemia 6, autosomal recessive

Preferred Label : Agammaglobulinemia 6, autosomal recessive;

Symbol : AGM6;

CISMeF acronym : AGM6;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Agammaglobulinemia, autosomal recessive, due to cd79b defect;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the CD79B antigen gene (CD79B, 147245.0001);

Prefixed ID : #612692;

Details

Origin ID

612692;

UMLS CUI

C3150207;

Automatic exact mappings (from CISMeF team)
- CD79B wt Allele [NCIt concept]
- Isolated agammaglobulinemia [ORDO Disease]
DO Cross reference
- agammaglobulinemia [DO Concept]
Genes related to phenotype
- Cd79b antigen [OMIM gene]
HPO term(s)
- Abnormal T cell morphology [HPO term]
- Agammaglobulinemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- B lymphocytopenia [HPO term]
- Chronic sinusitis [HPO term]
- Conjunctivitis [HPO term]
- Decreased circulating IgA level [HPO term]
- Decreased circulating IgG level [HPO term]
- Decreased circulating total IgM [HPO term]
- Diarrhea [HPO term]
- Infantile onset [HPO term]
- Recurrent bacterial infections [HPO term]
- Recurrent bronchitis [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent pneumonia [HPO term]
ORDO concept(s)
- Autosomal agammaglobulinemia [ORDO Disease]
- Isolated agammaglobulinemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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