Focal palmoplantar and gingival keratoderma

Summary

Focal palmoplantar and gingival keratoderma (MONDO:0007860) is a disease. A subtype of focal palmoplantar keratoderma — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 9

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		17	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

9 HPO clinical features (Orphanet curated; top 9 by frequency):

HPO ID	Term	Frequency
HP:0000212	Gingival overgrowth	Very frequent (80-99%)
HP:0000222	Gingival hyperkeratosis	Very frequent (80-99%)
HP:0000982	Palmoplantar keratoderma	Very frequent (80-99%)
HP:0001231	Abnormal fingernail morphology	Very frequent (80-99%)
HP:0007497	Focal friction-related palmoplantar hyperkeratosis	Very frequent (80-99%)
HP:0008392	Subungual hyperkeratosis	Very frequent (80-99%)
HP:0008399	Circumungual hyperkeratosis	Very frequent (80-99%)
HP:0000975	Hyperhidrosis	Frequent (30-79%)
HP:0001597	Abnormality of the nail	Frequent (30-79%)

Identifiers

Disease identifiers

Field	Value
Canonical name	focal palmoplantar and gingival keratoderma
Mondo ID	MONDO:0007860
MeSH	C536157
OMIM	148730
Orphanet	2200
DOID	DOID:0070553
SNOMED CT	764963007
UMLS	C1835650
MedGen	372097
GARD	0003098
Is cancer (heuristic)	no

Also known as: focal palmoplantar and gingival hyperkeratosis · focal palmoplantar and oral mucosa hyperkeratosis · keratosis focal palmoplantar gingival

Disease family

This is a subtype of focal 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 › focal palmoplantar keratoderma › focal palmoplantar and gingival keratoderma

Related subtypes (11): hereditary painful callosities, palmoplantar keratoderma-esophageal carcinoma syndrome, tyrosinemia type II, hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome, palmoplantar keratoderma, nonepidermolytic, focal 1, nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome, wooly hair-palmoplantar keratoderma syndrome, isolated focal non-epidermolytic palmoplantar keratoderma, pachyonychia congenita, focal palmoplantar keratoderma with joint keratoses, striate palmoplantar keratoderma

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.