Olmsted syndrome 1
MONDO:0100296Mondo
Findings
No curated finding names Olmsted syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Olmsted syndrome in which the cause of the disease is a variation in the TRPV3 gene.
Definition from the Mondo Disease Ontology (MONDO:0100296), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
11 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- HyperparakeratosisHPOHP:0040009
- 3 of 3 reported patients
- OrthokeratosisHPOHP:0040162
- 3 of 3 reported patients
- Palmoplantar keratodermaHPOHP:0000982
- 6 of 6 reported patients
- Periorificial hyperkeratosisHPOHP:0034521
- 6 of 6 reported patients
- PruritusHPOHP:0000989
- 6 of 6 reported patients
- Amniotic constriction ringHPOHP:0009775
- 4 of 6 reported patients
- Alopecia universalisHPOHP:0002289
Genes
3 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TRPV3HGNC:18084
- Strong · Ambry Genetics · Autosomal dominant · 2018
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · G2P · Autosomal dominant · 2015
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- MBTPS2HGNC:15455
- Supportive · Orphanet · Autosomal dominant · 2021
- PERPHGNC:17637
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: Olmsted syndrome 1
- Also called
- palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 1