Candidiasis, familial, 8

Preferred Label : Candidiasis, familial, 8;

Symbol : CANDF8;

CISMeF acronym : CANDF8;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Candidiasis, familial chronic mucocutaneous, autosomal recessive;

Description : Chronic mucocutaneous candidiasis is characterized by recurrent or persistent infections of the skin, nails, and oral and genital mucosae with Candida albicans, and sometimes by staphylococcal skin infections (summary by Boisson et al., 2013). For a discussion of genetic heterogeneity of familial candidiasis, see;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the TRAF3-interacting protein-2 gene (TRAF3IP2, 607043.0002);

Prefixed ID : #615527;

Details

Origin ID

615527;

UMLS CUI

C3714992;

Automatic exact mappings (from CISMeF team)
- Candidiasis familial chronic mucocutaneous, autosomal recessive [MeSH concept]
- TRAF3IP2 wt Allele [NCIt concept]
DO Cross reference
- chronic mucocutaneous candidiasis [DO Concept]
Genes related to phenotype
- Traf3-interacting protein 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Blepharitis [HPO term]
- Macroglossia [HPO term]
- Onychomycosis [HPO term]
- Seborrheic dermatitis [HPO term]
ORDO concept(s)
- Chronic mucocutaneous candidiasis [ORDO Disease]
See also inter- (CISMeF)
- candidiasis familial chronic mucocutaneous, autosomal recessive [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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