Agammaglobulinemia 3, autosomal recessive

Preferred Label : Agammaglobulinemia 3, autosomal recessive;

Symbol : AGM3;

CISMeF acronym : AGM3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Agammaglobulinemia, autosomal recessive, due to cd79a defect;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the CD79A antigen gene (CD79A, 112205.0001);

Laboratory abnormalities : Neutropenia (in 1 patient);

Prefixed ID : #613501;

Details

Origin ID

613501;

UMLS CUI

C3150751;

Automatic exact mappings (from CISMeF team)
- Isolated agammaglobulinemia [ORDO Disease]
DO Cross reference
- agammaglobulinemia [DO Concept]
Genes related to phenotype
- Cd79a antigen [OMIM gene]
HPO term(s)
- Agammaglobulinemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Diarrhea [HPO term]
- Failure to thrive [HPO term]
- Neutropenia [HPO term]
- Recurrent bacterial infections [HPO term]
- Recurrent bronchitis [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent respiratory infections [HPO term]
Not associated HPO term(s)
- Abnormal T cell morphology [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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