General Information of Disease (ID: DISMCSDG)

Disease Name Candidiasis, familial, 8
Synonyms
candidiasis, familial chronic mucocutaneous, autosomal recessive; CANDF8; TRAF3IP2 chronic mucocutaneous candidiasis (disease); chronic mucocutaneous candidiasis (disease) caused by mutation in TRAF3IP2; candidiasis, familial, 8; candidiasis, familial, type 8
Definition Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the TRAF3IP2 gene.
Disease Hierarchy
DISPSGYF: Chronic mucocutaneous candidiasis
DISMCSDG: Candidiasis, familial, 8
Disease Identifiers
MONDO ID
MONDO_0014230
UMLS CUI
C3714992
OMIM ID
615527
MedGen ID
811541

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TRAF3IP2 OTLLZERL Strong Autosomal recessive [1]
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References

1 Deficiency of Act1, a critical modulator of B cell function, leads to development of Sj?gren's syndrome. Eur J Immunol. 2008 Aug;38(8):2219-28. doi: 10.1002/eji.200738113.