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porokeratosis 7, multiple types - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

porokeratosis 7, multiple types

MONDO:0013868

Also known as:POROK7porokeratosis 7, disseminated superficial actinic type

Overview

GeneticsAutosomal dominant · MVD (chr 16)

ResearchLimited published research (1 article)

Clinical Presentation

Features include: Parakeratosis and Porokeratosis.

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.

MVD encodes mevalonate diphosphate decarboxylase (400 aa). Catalyzes the ATP dependent decarboxylation of (R)-5-diphosphomevalonate to form isopentenyl diphosphate (IPP). Highest expression in Brain Cerebellum (66.6 TPM) and Cells EBV-transformed lymphocytes (65.2 TPM).

Porokeratosis 7, multiple types is associated with mutations in the MVD gene on chromosome 16.

The MVD protein participates in SREBP1A,2:MVD gene, MVD decarboxylates MVA5PP to IPPP, and Expression of Diphosphomevalonate Decarboxylase (MVD) pathways.

MVD is classified as a druggable target (Druggable Genome and Enzyme categories) with score 0.0.

Diagnosis

Genetic testing for MVD 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 7, multiple types.

1 publication has been identified in PubMed for porokeratosis 7, multiple types. Research spans Review / Meta-Analysis (100%).

Recent Publications

Loh CH (2024). [PMID: 39387668](https://pubmed.ncbi.nlm.nih.gov/39387668/). *Acta Derm Venereol*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:39 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614714

GARD

Genetic and Rare Diseases Info Center

GARD:15838

Questions for Your Care Team

→Should I pursue genetic testing for MVD, 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 7, multiple types

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