palmoplantar keratoderma i, striate, focal, or diffuse
MONDO:0007859Mondo
Findings
No curated finding names palmoplantar keratoderma i, striate, focal, or diffuse yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
10 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
- 3 of 3 reported patients
- HyperhidrosisHPOHP:0000975
- 4 of 4 reported patients
- Nail dystrophyHPOHP:0008404
- 1 of 1 reported patient
- OnycholysisHPOHP:0001806
- 1 of 1 reported patient
- Orthokeratotic hyperkeratosisHPOHP:0025080
- 1 of 1 reported patient
- Palmoplantar blisteringHPOHP:0007446
- 4 of 4 reported patients
- Palmoplantar hyperkeratosisHPOHP:0000972
- 15 of 15 reported patients
- Palmoplantar keratodermaHPOHP:0000982
- 1 of 1 reported patient
- Streaks of hyperkeratosis along each finger onto the palmHPOHP:0007501
- 15 of 15 reported patients
- Yellow nailsHPOHP:0011367
- 1 of 1 reported patient
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.
- DSG1HGNC:3048
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: palmoplantar keratoderma i, striate, focal, or diffuse
- Also called
- keratosis palmoplantaris striata i, AD