Olmsted syndrome

Summary

Olmsted syndrome (MONDO:0031421) is a disease and 1 clinical trial. A subtype of hereditary 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): 23
• Clinical trials: 1

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		73	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

23 HPO clinical features (Orphanet curated; top 23 by frequency):

HPO ID	Term	Frequency
HP:0000970	Anhidrosis	Very frequent (80-99%)
HP:0000982	Palmoplantar keratoderma	Very frequent (80-99%)
HP:0001072	Thickened skin	Very frequent (80-99%)
HP:0001231	Abnormal fingernail morphology	Very frequent (80-99%)
HP:0007410	Palmoplantar hyperhidrosis	Very frequent (80-99%)
HP:0008070	Sparse hair	Very frequent (80-99%)
HP:0010783	Erythema	Very frequent (80-99%)
HP:0031013	Ankylosis	Very frequent (80-99%)
HP:0031057	Skin fissure	Very frequent (80-99%)
HP:0000164	Abnormality of the dentition	Frequent (30-79%)
HP:0000407	Sensorineural hearing impairment	Frequent (30-79%)
HP:0000668	Hypodontia	Frequent (30-79%)
HP:0000670	Carious teeth	Frequent (30-79%)
HP:0200042	Skin ulcer	Frequent (30-79%)
HP:0001596	Alopecia	Occasional (5-29%)
HP:0002797	Osteolysis	Occasional (5-29%)
HP:0002861	Melanoma	Occasional (5-29%)
HP:0008069	Neoplasm of the skin	Occasional (5-29%)
HP:0011830	Abnormal oral mucosa morphology	Occasional (5-29%)
HP:0100526	Neoplasm of the lung	Occasional (5-29%)
HP:0000157	Abnormality of the tongue	Occasional (5-29%)
HP:0000168	Abnormality of the gingiva	Occasional (5-29%)
HP:0001250	Seizure	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	Olmsted syndrome
Mondo ID	MONDO:0031421
OMIM	614594
Orphanet	659
DOID	DOID:0112011
UMLS	C0406761
MedGen	590661
GARD	0004075
MedDRA	10068842
Is cancer (heuristic)	no

Also known as: mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques · palmoplantar and periorificial keratoderma · palmoplantar keratoderma, mutilating, with periorificial keratotic plaques

Disease family

This is a subtype of hereditary 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 › Olmsted syndrome

Related subtypes (7): palmoplantar keratoderma i, striate, focal, or diffuse, palmoplantar keratoderma, nonepidermolytic, focal or diffuse, diffuse palmoplantar keratoderma, focal palmoplantar keratoderma, punctate palmoplantar keratoderma, alopecia congenita keratosis palmoplantaris, palmoplantar keratoderma, epidermolytic

Subtypes (3): Olmsted syndrome, X-linked, Olmsted syndrome 2, Olmsted syndrome 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: 1.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT07090889	PHASE1	RECRUITING	Study of KM-023 in Healthy Volunteers and Patients With Olmsted Syndrome.