palmoplantar keratoderma, Nagashima type
Findings
No curated finding names palmoplantar keratoderma, Nagashima type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Keratosis, Nagashima-type is a transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda.
Definition from the Mondo Disease Ontology (MONDO:0014272), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Infantile onset · Juvenile onset · Neonatal onset · Childhood 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.
- Palmoplantar hyperkeratosisHPOHP:0000972
- 13 of 13 reported patients
- Palmoplantar hyperhidrosisHPOHP:0007410
- 11 of 13 reported patients
- HyperhidrosisHPOHP:0000975
- Very frequent (80% to 99% of cases)
- Palmoplantar keratodermaHPOHP:0000982
- Very frequent (80% to 99% of cases)
- MacerationHPOHP:0032007
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.
- HGNC:13902HGNC:13902
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: palmoplantar keratoderma, Nagashima type
- Also called
- palmoplantar hyperkeratosis, Nagashima typePPK, Nagashima type