Porokeratosis

Summary

Porokeratosis (MONDO:0006602) is a disease. A subtype of keratosis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	porokeratosis
Mondo ID	MONDO:0006602
EFO	EFO:1000757
MeSH	D017499
OMIM	175800
Orphanet	79358
DOID	DOID:3805
ICD-11	29524620
NCIT	C85019
SNOMED CT	400080004
UMLS	C0162839
MedGen	56518
GARD	0018989
MedDRA	10036175
Is cancer (heuristic)	no

Also known as: porokeratosis · porokeratosis (disease)

Data availability: 1 HPO phenotype · 2 cell lines.

Disease family

This is a subtype of keratosis. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › integumentary system disorder › skin disorder › keratosis › porokeratosis

Related subtypes (8): keratosis follicularis spinulosa decalvans, acquired keratosis, cholesteatoma, palmoplantar keratosis, hereditary papulotranslucent acrokeratoderma, acrokeratosis verruciformis, seborrheic keratosis, trichostasis spinulosa

Subtypes (4): porokeratosis plantaris palmaris et disseminata, porokeratosis of Mibelli, disseminated superficial actinic porokeratosis, linear porokeratosis

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.