Features include always present findings: Porokeratosis.

FDPS encodes farnesyl diphosphate synthase (419 aa). Key enzyme in isoprenoid biosynthesis which catalyzes the formation of farnesyl diphosphate (FPP), a precursor for several classes of essential metabolites including sterols, dolichols, carotenoids, and ubiquinones. Highest expression in Cells EBV-transformed lymphocytes (239.2 TPM) and Cells Cultured fibroblasts (108.2 TPM).

Porokeratosis 9, multiple types is associated with mutations in the FDPS gene on chromosome 1.

The FDPS protein participates in Expression of Farnesyl Diphosphate Synthase (FDPS) pathway.

FDPS is classified as a druggable target (Clinically Actionable, Druggable Genome, and Enzyme categories) with score 6.5.

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

Phenotype severity distribution: 1 always present feature.

No clinical trials have been registered for porokeratosis 9, multiple types.

2 publications have been identified in PubMed for porokeratosis 9, multiple types. Research spans Basic Science / Preclinical (100%).

Recent Publications

• Yang Y (2026). [PMID: 41240373](https://pubmed.ncbi.nlm.nih.gov/41240373/). *Br J Dermatol*. [Basic Science / Preclinical]

• Saito S (2024). [PMID: 38653249](https://pubmed.ncbi.nlm.nih.gov/38653249/). *Am J Hum Genet*. [Basic Science / Preclinical]