acrokeratosis verruciformis
Findings
No curated finding names acrokeratosis verruciformis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare genetic skin keratinization disorder with an autosomal dominant mode of inheritance. It is characterized by numerous flesh-colored warty papules on the back of the hands, medial aspect of the feet, knees, and elbows.
Definition from the Mondo Disease Ontology (MONDO:0007048), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
14 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
- Very frequent (80% to 99% of cases)
- HyperkeratosisHPOHP:0000962
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- HypergranulosisHPOHP:0025114
- Very frequent (80% to 99% of cases)
- Nail dystrophyHPOHP:0008404
- Very frequent (80% to 99% of cases)
- Skin-colored papuleHPOHP:0025512
- Very frequent (80% to 99% of cases)
- LeukonychiaHPOHP:0001820
- Frequent (30% to 79% of cases)
Show the remaining 2
- Ridged nailHPOHP:0001807
- Verrucous papuleHPOHP:0012500
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.
- ATP2A2HGNC:812
- Definitive · G2P · Autosomal dominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: acrokeratosis verruciformis
- Also called
- acrokeratosis verruciformis of HopfAKV of HopfHopf disease