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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
Gliosarcoma
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

Synonym(s): - 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	P16615	108740

Very frequent

- Autosomal dominant inheritance
- Follicular / erythematous / edematous papules / milium
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Nails anomalies
- Pruritus / itching

Frequent

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

Occasional

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