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white sponge nevus 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

white sponge nevus 2

MONDO:0014346

Also known as:White sponge Nevus type 2WSN2

Overview

GeneticsAutosomal dominant · KRT13 (chr 17)

Clinical Presentation

Features include: Edema, Epidermal acanthosis, and Hyperparakeratosis.

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.

KRT13 encodes keratin 13 (458 aa). Type 1 keratin (Probable). Highest expression in Esophagus Mucosa (34,173 TPM) and Vagina (13,147 TPM).

White sponge nevus 2 is associated with mutations in the KRT13 gene on chromosome 17.

KRT13 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for KRT13 is available. Testing is considered confirmatory for diagnosis.

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 6:43 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615785

GARD

Genetic and Rare Diseases Info Center

GARD:16012

Questions for Your Care Team

→Should I pursue genetic testing for KRT13, and what would the results mean for my family?
→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

white sponge nevus 2

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team