palmoplantar keratoderma, Bothnian type
MONDO:0010849Mondo
Findings
No curated finding names palmoplantar keratoderma, Bothnian type 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
- Childhood onset
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.
- Diffuse palmoplantar hyperkeratosisHPOHP:0007447
- Very frequent (80% to 99% of cases)
- HyperhidrosisHPOHP:0000975
- Very frequent (80% to 99% of cases)
- Abnormal blistering of the skinHPOHP:0008066
- Frequent (30% to 79% of cases)
- Chronic tinea infectionHPOHP:0032259
- Frequent (30% to 79% of cases)
- ErythemaHPOHP:0010783
- Frequent (30% to 79% of cases)
- Knuckle padHPOHP:0032541
- Frequent (30% to 79% of cases)
- PapuleHPOHP:0200034
- Frequent (30% to 79% of cases)
- PruritusHPOHP:0000989
- Frequent (30% to 79% of cases)
- Skin ulcerHPOHP:0200042
- Frequent (30% to 79% of cases)
- Ridged nailHPOHP:0001807
- Occasional (5% to 29% of cases)
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.
- AQP5HGNC:638
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2024
- Moderate · G2P · Autosomal dominant · 2024
Where it sits
- A kind of