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keratosis palmoplantaris striata 3 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

keratosis palmoplantaris striata 3

MONDO:0011881

Also known as:KRT1 striate palmoplantar keratodermakeratosis palmoplantaris striata type 3striate palmoplantar keratoderma caused by mutation in KRT1

Overview

Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT1 gene.

GeneticsAutosomal dominant · KRT1 (chr 12)

OnsetCHILDHOOD

ResearchLimited published research (1 article)

Clinical Presentation

Features include always present findings: Palmoplantar keratoderma. 3 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	2	Abnormal nail morphology, Palmoplantar keratoderma

Age of onset: childhood.

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.

KRT1 encodes keratin 1 (644 aa). May regulate the activity of kinases such as PKC and SRC via binding to integrin beta-1 (ITB1) and the receptor of activated protein C kinase 1 (RACK1). Highest expression in Skin Not Sun Exposed Suprapubic (15,626 TPM) and Skin Sun Exposed Lower leg (14,326 TPM).

Keratosis palmoplantaris striata 3 is associated with mutations in the KRT1 gene on chromosome 12.

KRT1 is classified as a druggable target (Kinase category) with score 0.0.

Diagnosis

Genetic testing for KRT1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature.

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 keratosis palmoplantaris striata 3.

1 publication has been identified in PubMed for keratosis palmoplantaris striata 3. Research spans Clinical Trial Publication (100%).

Recent Publications

Gram SB (2025). [PMID: 39630431](https://pubmed.ncbi.nlm.nih.gov/39630431/). *JAMA Dermatol*. [Clinical Trial Publication]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:607654

GARD

Genetic and Rare Diseases Info Center

GARD:9173

Questions for Your Care Team

→Should I pursue genetic testing for KRT1, 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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keratosis palmoplantaris striata 3

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team