Search on: DARIER DISEASE 
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Descriptor English:   Darier Disease 
Descriptor Spanish:   enfermedad de Darier 
Descriptor Portuguese:   Doença de Darier 
Synonyms English:   Acantholytic Dyskeratotic Epidermal Nevi
Acantholytic Dyskeratotic Epidermal Nevus
Acrokeratosis Verruciformis
Acrokeratosis Verruciformis of Hopf
Darier White Disease
Darier's Disease
Darier-White Disease
Darier-White Diseases
Dariers Disease
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  
Tree Number:   C16.320.850.190
C17.800.428.275
C17.800.827.190
Definition English:   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. 
History Note English:   2009 (1966) 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   7811 
Unique Identifier:   D007644 

Occurrence in VHL: 		 

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