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, 4 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

candidiasis, familial, 4

MONDO:0013140

Also known as:CLEC7A familial chronic mucocutaneous candidiasiscandidiasis, familial, 4, autosomal recessivecandidiasis, familial, type 4

Overview

Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the CLEC7A gene.

GeneticsAutosomal recessive · CLEC7A (chr 12)

ResearchLimited published research (3 articles)

Clinical Presentation

Features include: Onychomycosis and Recurrent vulvovaginal candidiasis.

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.

CLEC7A encodes C-type lectin domain containing 7A (247 aa). Lectin that functions as a pattern recognizing receptor (PRR) specific for beta-1,3-linked and beta-1,6-linked glucans, which constitute cell wall constituents from pathogenic bacteria and fungi. Highest expression in Whole Blood (60.3 TPM) and Lung (52.1 TPM).

Candidiasis, familial, 4 is associated with mutations in the CLEC7A gene on chromosome 12.

The CLEC7A protein participates in CLEC7A/inflammasome pathway pathway.

CLEC7A is classified as a druggable target (Cell Surface category) with score 0.0.

Diagnosis

Genetic testing for CLEC7A is available. Testing is considered confirmatory for diagnosis.

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, 4.

3 publications have been identified in PubMed for candidiasis, familial, 4. Research spans Case Report / Case Series (100%).

Recent Publications

Shigemura T (2026). [PMID: 42068233](https://pubmed.ncbi.nlm.nih.gov/42068233/). *Clin Exp Immunol*. [Case Report / Case Series]
Tomomasa D (2024). [PMID: 38758287](https://pubmed.ncbi.nlm.nih.gov/38758287/). *J Clin Immunol*. [Case Report / Case Series]
Zhou LH (2024). [PMID: 38936523](https://pubmed.ncbi.nlm.nih.gov/38936523/). *Clin Immunol*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 21, 2026, 12:09 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613108

GARD

Genetic and Rare Diseases Info Center

GARD:15617

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, 4

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team