Immunoglobulin kappa light chain deficiency

Preferred Label : Immunoglobulin kappa light chain deficiency;

Symbol : IGKCD;

CISMeF acronym : IGKCD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Kappa chain deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the immunoglobulin kappa constant region gene (IGKC, 147200.0004);

Prefixed ID : #614102;

Details

Origin ID

614102;

UMLS CUI

C3279824;

Automatic exact mappings (from CISMeF team)
- IGKC wt Allele [NCIt concept]
- Kappa-Chain deficiency [MeSH concept]
- Kappa-Chain deficiency [MeSH Supplementary Concept]
- Recurrent infections associated with rare immunoglobulin isotypes deficiency [ORDO Disease]
Genes related to phenotype
- Immunoglobulin kappa light chain constant region [OMIM gene]
HPO term(s)
- Abnormal immunoglobulin level [HPO term]
- Autosomal recessive inheritance [HPO term]
- Diarrhea [HPO term]
- Recurrent infections [HPO term]
ORDO concept(s)
- Recurrent infections associated with rare immunoglobulin isotypes deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Kappa-Chain deficiency [MeSH Supplementary Concept]
- Kappa-Chain deficiency [MeSH concept]

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