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porokeratosis 3, disseminated superficial actinic type (DSAP1) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

porokeratosis 3, disseminated superficial actinic type

MONDO:0008293

Also known as:DSAP1DsapPOROK3

Overview

GeneticsAutosomal dominant · MVK (chr 12)

Clinical Presentation

Features include sometimes findings: Nail dystrophy. 3 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	1	Nail dystrophy

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.

MVK encodes mevalonate kinase (396 aa). Catalyzes the phosphorylation of mevalonate to mevalonate 5-phosphate, a key step in isoprenoid and cholesterol biosynthesis Highest expression in Testis (41.6 TPM) and Esophagus Mucosa (40.7 TPM).

Porokeratosis 3, disseminated superficial actinic type is associated with mutations in the MVK gene on chromosome 12.

The MVK protein participates in SREBP1A,2:NF-Y:SP1:MVK gene and Expression of Mevalonate Kinase (MVK) pathways.

MVK is classified as a druggable target (Enzyme and Kinase categories) with score 8.7.

Diagnosis

Genetic testing for MVK 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 porokeratosis 3, disseminated superficial actinic type.

27 publications have been identified in PubMed for porokeratosis 3, disseminated superficial actinic type. Research spans Case Report / Case Series (37%), Review / Meta-Analysis (33%), and Other (11%).

Research Type	Count	% of Total
Patient case studies	10	37%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 2:52 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:175900

GARD

Genetic and Rare Diseases Info Center

GARD:9505

Questions for Your Care Team

→Should I pursue genetic testing for MVK, 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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porokeratosis 3, disseminated superficial actinic type

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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