Agammaglobulinemia 4, autosomal recessive

Preferred Label : Agammaglobulinemia 4, autosomal recessive;

Symbol : AGM4;

CISMeF acronym : AGM4;

Type : Phenotype, molecular basis known;

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

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the B-cell linker protein gene (BLNK, 604515.0001);

Laboratory abnormalities : Hypogammaglobulinemia, profound; Agammaglobulinemia; Neutropenia;

Prefixed ID : #613502;

Details

Origin ID

613502;

UMLS CUI

C3150752;

Automatic exact mappings (from CISMeF team)
- 3-methylglutaconic aciduria type 4 [ORDO Disease]
- BLNK wt Allele [NCIt concept]
- Isolated agammaglobulinemia [ORDO Disease]
DO Cross reference
- agammaglobulinemia 4 [DO Concept]
Genes related to phenotype
- B-cell linker protein [OMIM gene]
HPO term(s)
- Abnormal T cell morphology [HPO term]
- Agammaglobulinemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Chronic sinusitis [HPO term]
- Decreased circulating IgA level [HPO term]
- Decreased circulating IgG level [HPO term]
- Decreased circulating total IgM [HPO term]
- Infantile onset [HPO term]
- Neutropenia [HPO term]
- Protein-losing enteropathy [HPO term]
- Recurrent bacterial infections [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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