Olmsted syndrome 2
MONDO:0030961Mondo
Findings
No curated finding names Olmsted syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
12 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.
- Alopecia universalisHPOHP:0002289
- 1 of 1 reported patient
- CheilitisHPOHP:0100825
- 4 of 4 reported patients
- Epidermal acanthosisHPOHP:0025092
- 2 of 2 reported patients
- Flexion contracture of digitHPOHP:0030044
- 1 of 1 reported patient
- HyperkeratosisHPOHP:0000962
- 1 of 1 reported patient
- Palmoplantar hyperkeratosisHPOHP:0000972
- 1 of 1 reported patient
- Palmoplantar keratodermaHPOHP:0000982
- 4 of 4 reported patients
- ParakeratosisHPOHP:0001036
- 1 of 1 reported patient
- Perioral hyperkeratosisHPOHP:0033707
- 5 of 5 reported patients
- PruritusHPOHP:0000989
- 1 of 1 reported patient
- Sparse hairHPOHP:0008070
- 1 of 1 reported patient
- Woolly hairHPOHP:0002224
- 2 of 4 reported patients
Genes
1 gene
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.
- PERPHGNC:17637
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · G2P · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2024
Where it sits
- A kind of
Other names
2 names
Resolves to: Olmsted syndrome 2
- Also called
- OLMS2palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 2