keratosis palmoplantaris striata 2
Findings
No curated finding names keratosis palmoplantaris striata 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the DSP gene.
Definition from the Mondo Disease Ontology (MONDO:0013034), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
5 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.
- Epidermal acanthosisHPOHP:0025092
- 1 of 1 reported patient
- Palmoplantar keratodermaHPOHP:0000982
- 26 of 26 reported patients
- Abnormal hair morphologyHPOHP:0001595
- 0 of 26 reported patients
- Abnormal nail morphologyHPOHP:0001597
- 0 of 26 reported patients
- Abnormality of the dentitionHPOHP:0000164
- 0 of 26 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.
- DSPHGNC:3052
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Limited · Ambry Genetics · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: keratosis palmoplantaris striata 2
- Also called
- DSP striate palmoplantar keratodermakeratosis palmoplantaris striata type 2striate palmoplantar keratoderma caused by mutation in DSP