Immunodeficiency, common variable, 13

Preferred Label : Immunodeficiency, common variable, 13;

Symbol : CVID13;

CISMeF acronym : CVID13;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ikaros family zinc finger 1 gene (IKZF1, 603023.0001);

Neoplasia : B-cell acute lymphoblastic leukemia (in some patients);

Prefixed ID : #616873;

Details

Origin ID

616873;

UMLS CUI

C4225173;

Automatic exact mappings (from CISMeF team)
- IKZF1 wt Allele [NCIt concept]
- Pancytopenia due to IKZF1 mutations [ORDO Disease]
Genes related to phenotype
- Ikaros family zinc finger 1 [OMIM gene]
HPO term(s)
- Acute lymphoblastic leukemia [HPO term]
- Autosomal dominant inheritance [HPO term]
- B lymphocytopenia [HPO term]
- Childhood onset [HPO term]
- Combined immunodeficiency [HPO term]
- Decreased circulating antibody level [HPO term]
- Fetal distress [HPO term]
- Incomplete penetrance [HPO term]
- Juvenile onset [HPO term]
- Middle age onset [HPO term]
- Pancytopenia [HPO term]
- Polyhydramnios [HPO term]
- Recurrent bacterial infections [HPO term]
- Young adult onset [HPO term]
Not associated HPO term(s)
- Recurrent fungal infections [HPO term]
- Recurrent viral infections [HPO term]
ORDO concept(s)
- Pancytopenia due to IKZF1 mutations [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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