Agammaglobulinemia 7, autosomal recessive

Preferred Label : Agammaglobulinemia 7, autosomal recessive;

Symbol : AGM7;

CISMeF acronym : AGM7;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Agammaglobulinemia, autosomal recessive, due to pik3r1 defect;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the phosphatidylinositol 3-kinase, regulatory subunit 1 gene (PIK3R1, 171833.0001);

Prefixed ID : #615214;

Details

Origin ID

615214;

UMLS CUI

C3554689;

Automatic exact mappings (from CISMeF team)
- PIK3R1 wt Allele [NCIt concept]
DO Cross reference
- agammaglobulinemia [DO Concept]
Genes related to phenotype
- Phosphatidylinositol 3-kinase, regulatory subunit 1 [OMIM gene]
HPO term(s)
- Agammaglobulinemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Infantile onset [HPO term]
- Neutropenia [HPO term]
- Recurrent infections [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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