Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

candidiasis, familial, 9 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

candidiasis, familial, 9

MONDO:0014642

Also known as:IL17RC chronic mucocutaneous candidiasis (disease)candidiasis, familial, type 9chronic mucocutaneous candidiasis (disease) caused by mutation in IL17RC

Overview

Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17RC gene.

GeneticsAutosomal recessive · IL17RC (chr 3)

Clinical Presentation

Features include always present findings: Chronic mucocutaneous candidiasis; and common findings: Candida esophagitis, Onychomycosis, and Recurrent aphthous stomatitis.

Organ System	Phenotype Count	Example Features
Digestive system	1	Candida esophagitis

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

IL17RC encodes interleukin 17 receptor C (791 aa). Receptor for IL17A and IL17F, major effector cytokines of innate and adaptive immune system involved in antimicrobial host defense and maintenance of tissue integrity. Highest expression in Pituitary (122.0 TPM) and Prostate (98.0 TPM).

Candidiasis, familial, 9 is associated with mutations in the IL17RC gene on chromosome 3.

IL17RC is classified as a druggable target (Cell Surface and Druggable Genome categories) with score 34.8.

Diagnosis

Genetic testing for IL17RC is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for candidiasis, familial, 9 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 3 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, 9.

29 publications have been identified in PubMed for candidiasis, familial, 9. Research spans Epidemiology / Natural History (24%), Case Report / Case Series (21%), and Clinical Trial Publication (17%).

Research Type	Count	% of Total
Disease patterns and progression	7	24%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 12:31 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616445

GARD

Genetic and Rare Diseases Info Center

GARD:16114

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?

← Back to All Diseases

candidiasis, familial, 9

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications