Focal acral hyperkeratosis

Summary

Focal acral hyperkeratosis (MONDO:0017677) is a disease. A subtype of punctate palmoplantar keratoderma — 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	focal acral hyperkeratosis
Mondo ID	MONDO:0017677
Orphanet	308013
SNOMED CT	400115004
UMLS	C1302839
MedGen	724380
GARD	0021299
Is cancer (heuristic)	no

Also known as: PPKP3 without elastoidosis · PPPK3 without elastoidosis · punctate palmoplantar hyperkeratosis type 3 without elastoidosis · punctate palmoplantar keratoderma type 3 without elastoidosis

Disease family

This is a subtype of punctate palmoplantar keratoderma. 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 › palmoplantar keratosis › hereditary palmoplantar keratoderma › punctate palmoplantar keratoderma › focal acral hyperkeratosis

Related subtypes (3): punctate palmoplantar keratoderma type III, punctate palmoplantar keratoderma type 2, punctate palmoplantar keratoderma type 1

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.