Details of Disease

General Information of Disease (ID: DISTRA44)

Disease Name Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
Definition Any autoimmune lymphoproliferative syndrome in which the cause of the disease is a mutation in the PRKCD gene.
Disease Hierarchy
DISUG5ES: Autoimmune lymphoproliferative syndrome
DISTRA44: Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
Disease Identifiers
MONDO ID
MONDO_8000024
UMLS CUI
C3809928
OMIM ID
615559
MedGen ID
816258

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
PRKCD TT9WJ8U Strong Autosomal recessive [1]
PRKCD TT7A1BO Strong Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PRKCD OTSEH90E Strong Autosomal recessive [1]
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References

1 Increased proliferation of B cells and auto-immunity in mice lacking protein kinase Cdelta. Nature. 2002 Apr 25;416(6883):865-9. doi: 10.1038/416865a.
2 Loss-of-function of the protein kinase C (PKC) causes a B-cell lymphoproliferative syndrome in humans. Blood. 2013 Apr 18;121(16):3117-25. doi: 10.1182/blood-2012-12-469544. Epub 2013 Feb 21.