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Disease Darier Disease

Name Darier Disease
Synonyms Acantholytic Dyskeratotic Epidermal Nevi | Acantholytic Dyskeratotic Epidermal Nevus | Acrokeratosis Verruciformis | Acrokeratosis Verruciformis of Hopf | AKV | DAR | DARIER DISEASE;DD DARIER DISEASE, ACRAL HEMORRHAGIC TYPE, INCLUDED | DARIER DISEASE, SEGMENTAL, INCLUDED | Darier's Disease | Dariers Disease | Darier White Disease | Darier-White Disease | Darier-White Diseases | Disease, Darier | Disease, Darier's | Disease, Darier-White | Disease, Hopf | Diseases, Darier-White | Diseases, Hopf | Hopf Acrokeratosis Verruciformis | Hopf Disease | Hopf Diseases | Keratosis Follicularis | Verruciformis, Acrokeratosis
Definition An autosomal dominantly inherited skin disorder characterized by warty malodorous papules that coalesce into plaques. It is caused by mutations in the ATP2A2 gene encoding SERCA2 protein, one of the SARCOPLASMIC RETICULUM CALCIUM-TRANSPORTING ATPASES. The condition is similar, clinically and histologically, to BENIGN FAMILIAL PEMPHIGUS, another autosomal dominant skin disorder. Both diseases have defective calcium pumps (CALCIUM-TRANSPORTING ATPASES) and unstable desmosomal adhesion junctions (DESMOSOMES) between KERATINOCYTES.
Categories Genetic disease (inborn) | Skin disease
MeSH® ID D007644
OMIM® IDs 101900 | 124200
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Top ↑ Ancestors

1. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Skin Diseases, Genetic Has associated chemicals Has associated genes Has associated exposure references Darier Disease Has associated chemicals Has associated genes
2. DiseasesSkin and Connective Tissue Diseases Has associated chemicals Has associated genes Has associated exposure references Skin Diseases Has associated chemicals Has associated genes Has associated exposure references Keratosis Has associated chemicals Has associated genes Has associated exposure references Darier Disease Has associated chemicals Has associated genes
3. DiseasesSkin and Connective Tissue Diseases Has associated chemicals Has associated genes Has associated exposure references Skin Diseases Has associated chemicals Has associated genes Has associated exposure references Skin Diseases, Genetic Has associated chemicals Has associated genes Has associated exposure references Darier Disease Has associated chemicals Has associated genes

Top ↑ Descendants

Darier Disease Has associated chemicals Has associated genes
View node Burnett Schwartz Berberian syndrome Has associated chemicals Has associated genes
  Darier Disease, Acral Hemorrhagic Type
  Darier Disease, Segmental
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  Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
  Kyrle disease
  Van Den Bosch Syndrome