Darier disease
Findings
No curated finding names Darier disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Darier disease (DD) is a keratinization disorder characterized by the development of keratotic papules in seborrheic areas and specific nail anomalies.
Definition from the Mondo Disease Ontology (MONDO:0007417), read 2026-09-29. CC BY 4.0.
Features
25 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.
- Abnormal nail morphologyHPOHP:0001597
- Very frequent (80% to 99% of cases)
- AcrokeratosisHPOHP:0200016
- Very frequent (80% to 99% of cases)
- Hyperkeratotic papuleHPOHP:0045059
- Very frequent (80% to 99% of cases)
- Hypermelanotic maculeHPOHP:0001034
- Very frequent (80% to 99% of cases)
- PruritusHPOHP:0000989
- Very frequent (80% to 99% of cases)
- Subungual hyperkeratotic fragmentsHPOHP:0008410
- Very frequent (80% to 99% of cases)
- Abnormal hair morphologyHPOHP:0001595
- Frequent (30% to 79% of cases)
- Abnormal skin pigmentationHPOHP:0001000
- Frequent (30% to 79% of cases)
- Anal mucosal leukoplakiaHPOHP:0005212
- Frequent (30% to 79% of cases)
- BlepharitisHPOHP:0000498
- Frequent (30% to 79% of cases)
- Cobblestone-like hyperkeratosisHPOHP:0031288
- Frequent (30% to 79% of cases)
- Fragile nailsHPOHP:0001808
- Frequent (30% to 79% of cases)
Show the remaining 13
- Keratoconjunctivitis siccaHPOHP:0001097
- Frequent (30% to 79% of cases)
- Longitudinal erythronychiaHPOHP:6001074
- Frequent (30% to 79% of cases)
- Palmar pitsHPOHP:0010610
- Frequent (30% to 79% of cases)
- Palmoplantar keratodermaHPOHP:0000982
- Frequent (30% to 79% of cases)
- Plantar pitsHPOHP:0010612
- Frequent (30% to 79% of cases)
- Thickened skinHPOHP:0001072
- Frequent (30% to 79% 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.
- ATP2A2HGNC:812
- Definitive · Illumina · Autosomal dominant · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
3 names
Resolves to: Darier disease
- Also called
- Darier-White diseaseDarier's diseaseKeratosis Follicularis