palmoplantar keratoderma, punctate type 1A
Findings
No curated finding names palmoplantar keratoderma, punctate type 1A yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any punctate palmoplantar keratoderma in which the cause of the disease is a mutation in the AAGAB gene.
Definition from the Mondo Disease Ontology (MONDO:0007858), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset · Young adult onset
HPO, annotations 2026-09-02
Features
7 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.
- Punctate palmoplantar hyperkeratosisHPOHP:0007530
- 3 of 3 reported patients
- Abnormal dental morphologyHPOHP:0006482
- 0 of 3 reported patients
- Abnormal hair morphologyHPOHP:0001595
- 0 of 3 reported patients
- Abnormal nail morphologyHPOHP:0001597
- 0 of 3 reported patients
- Epidermal acanthosisHPOHP:0025092
- HypergranulosisHPOHP:0025114
- OrthokeratosisHPOHP:0040162
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.
- AAGABHGNC:25662
- Definitive · Ambry Genetics · Autosomal dominant · 2024
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · Laboratory for Molecular Medicine · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
3 names
Resolves to: palmoplantar keratoderma, punctate type 1A
- Also called
- AAGAB punctate palmoplantar keratodermakeratoderma, palmoplantar, punctate type IApunctate palmoplantar keratoderma caused by mutation in AAGAB