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candidiasis, familial, 8 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

candidiasis, familial, 8

MONDO:0014230

Also known as:TRAF3IP2 chronic mucocutaneous candidiasis (disease)candidiasis, familial, type 8chronic mucocutaneous candidiasis (disease) caused by mutation in TRAF3IP2

Overview

Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the TRAF3IP2 gene.

GeneticsAutosomal recessive · TRAF3IP2 (chr 6)

Clinical Presentation

Features include always present findings: Chronic oral candidiasis and Seborrheic dermatitis; and common findings: Cheilitis, Macroglossia, Blepharitis, and Onychomycosis.

Organ System	Phenotype Count	Example Features
Skin	1	Seborrheic dermatitis

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Genetic Landscape

TRAF3IP2 function has not been fully characterized.

Candidiasis, familial, 8 is associated with mutations in the TRAF3IP2 gene on chromosome 6.

Diagnosis

Genetic testing for TRAF3IP2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for candidiasis, familial, 8 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features, 4 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for candidiasis, familial, 8.

36 publications have been identified in PubMed for candidiasis, familial, 8. Research spans Epidemiology / Natural History (28%), Basic Science / Preclinical (19%), and Case Report / Case Series (17%).

Research Type	Count	% of Total
Disease patterns and progression	10	28%

Data assembled from 5 of 12 sources · Last updated Sep 17, 2026, 9:38 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615527

GARD

Genetic and Rare Diseases Info Center

GARD:15981

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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candidiasis, familial, 8

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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