Agammaglobulinemia 2, autosomal recessive

Preferred Label : Agammaglobulinemia 2, autosomal recessive;

Symbol : AGM2;

CISMeF acronym : AGM2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Agammaglobulinemia, autosomal recessive, due to igll1 defect;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the immunoglobulin lambda-like polypeptide 1 gene (IGLL1, 146770.0001);

Prefixed ID : #613500;

Details

Origin ID

613500;

UMLS CUI

C3150750;

Automatic exact mappings (from CISMeF team)
- IGLL1 wt Allele [NCIt concept]
- Isolated agammaglobulinemia [ORDO Disease]
DO Cross reference
- agammaglobulinemia [DO Concept]
False automatic mappings
- Barth syndrome [ORDO Disease]
Genes related to phenotype
- Immunoglobulin lambda-like polypeptide 1 [OMIM gene]
HPO term(s)
- Abnormal T cell morphology [HPO term]
- Absent circulating B cells [HPO term]
- Agammaglobulinemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased circulating IgA level [HPO term]
- Decreased circulating total IgM [HPO term]
- Infantile onset [HPO term]
- Meningitis [HPO term]
- Recurrent bacterial infections [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent pneumonia [HPO term]
- Recurrent respiratory infections [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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