Agammaglobulinemia 8a, autosomal dominant

Preferred Label : Agammaglobulinemia 8a, autosomal dominant;

Symbol : AGM8A;

CISMeF acronym : AGM8;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Agammaglobulinemia, autosomal dominant, due to tcf3 defect; AGM8;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the transcription factor 3 gene (147141.0001);

Prefixed ID : #616941;

Details

Origin ID

616941;

UMLS CUI

C4310786;

Automatic exact mappings (from CISMeF team)
- TCF3 wt Allele [NCIt concept]
Genes related to phenotype
- Transcription factor 3 [OMIM gene]
HPO term(s)
- Agammaglobulinemia [HPO term]
- Autosomal dominant inheritance [HPO term]
- B lymphocytopenia [HPO term]
- Infantile onset [HPO term]
- Recurrent infections [HPO term]
- Recurrent otitis media [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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