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Darier disease
1 OMIM reference -
1 associated gene
30 connected diseases
12 signs/symptoms
Disease Type of connection
Acrokeratosis verruciformis of Hopf
Familial isolated dilated cardiomyopathy
Giant cell glioblastoma
Burkitt lymphoma
Precursor T-cell acute lymphoblastic leukemia
Autosomal dominant hypohidrotic ectodermal dysplasia
Congenital bilateral absence of vas deferens
Cystic fibrosis
Hereditary chronic pancreatitis
Idiopathic bronchiectasis
Intermittent hydrarthrosis
Male infertility with normal virilization due to meiosis defect
TRAPS syndrome
17q11 microdeletion syndrome
Alternating hemiplegia of childhood
CLN3 disease
CLN5 disease
Combined immunodeficiency due to STK4 deficiency
Dedifferentiated liposarcoma
Estrogen resistance syndrome
Familial or sporadic hemiplegic migraine
Glycogen storage disease due to liver phosphorylase kinase deficiency
Pediatric systemic lupus erythematosus
Pseudohypoaldosteronism type 2E
Weaver syndrome
Well-differentiated liposarcoma
Young adult-onset Parkinsonism
Follicular lymphoma
Intravascular large B-cell lymphoma
- Darier-White disease
- Keratosis follicularis

Classification (Orphanet):
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: D007644

Gene symbol UniProt reference OMIM reference
ATP2A2 P16615108740
Very frequent
- Autosomal dominant inheritance
- Follicular / erythematous / edematous papules / milium
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Nails anomalies
- Pruritus / itching

- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Enanthema / aphtosa / aphta / leukoplakia
- Hair and scalp anomalies
- Palmoplantar hyperkeratosis / keratoderma
- Thick skin / pachydermia / orange skin

- Macules
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment