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palmoplantar keratoderma, nonepidermolytic, focal 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

palmoplantar keratoderma, nonepidermolytic, focal 1

MONDO:0013073

Also known as:KRT16 nonepidermolytic palmoplantar keratodermanonepidermolytic palmoplantar keratoderma caused by mutation in KRT16palmoplantar keratoderma, nonepidermolytic, focal

Overview

Any nonepidermolytic palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT16 gene.

GeneticsAutosomal dominant · KRT16 (chr 17)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Palmoplantar keratoderma and Follicular hyperkeratosis. 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	4	Perioral hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoderma

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.

KRT16 encodes keratin 16 (473 aa). Epidermis-specific type I keratin that plays a key role in skin. Highest expression in Esophagus Mucosa (577.3 TPM) and Vagina (234.1 TPM).

Palmoplantar keratoderma, nonepidermolytic, focal 1 is associated with mutations in the KRT16 gene on chromosome 17.

KRT16 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for KRT16 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features.

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 4:05 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613000

GARD

Genetic and Rare Diseases Info Center

GARD:18487

Questions for Your Care Team

→Should I pursue genetic testing for KRT16, 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?

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palmoplantar keratoderma, nonepidermolytic, focal 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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