B-cell expansion with nfkb and t-cell anergy

Preferred Label : B-cell expansion with nfkb and t-cell anergy;

Symbol : BENTA;

CISMeF acronym : BENTA;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the caspase recruitment domain-containing protein 11 gene (CARD11, 607210.0001);

Neoplasia : Chronic lymphocytic leukemia, B-cell, susceptibility to;

Prefixed ID : #616452;

Details

Origin ID

616452;

UMLS CUI

C4551967;

Automatic exact mappings (from CISMeF team)
- CARD11 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- B-Cell Expansion with NFKB and T-Cell Anergy [NCIt concept]
- B-cell expansion with nuclear factor kappa light chain enhancer of activated B cells and T-cell anergy disease (disorder) [SNOMED CT concept]
- BENTA disease [ORDO Disease]
Genes related to phenotype
- Caspase recruitment domain-containing protein 11 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Decreased circulating IgA level [HPO term]
- Decreased circulating total IgM [HPO term]
- Decreased specific antibody response to polysaccharide vaccine [HPO term]
- Increased B cell count [HPO term]
- Recurrent infections [HPO term]
- Splenomegaly [HPO term]
ORDO concept(s)
- BENTA disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- B-Cell Expansion with NFKB and T-Cell Anergy [NCIt concept]
- B-cell expansion with nuclear factor kappa light chain enhancer of activated B cells and T-cell anergy disease (disorder) [SNOMED CT concept]
- BENTA disease [ORDO Disease]

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