- Concept UI
- M0011973
- Scope Note
- 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.
- Terms
-
Darier Disease
Preferred Term
Term UI
T022959
Date06/15/1984
LexicalTag
EPO
ThesaurusID
-
Keratosis Follicularis
Term UI
T022961
Date01/01/1999
LexicalTag
NON
ThesaurusID
-
Darier-White Disease
Term UI
T705200
Date09/04/2007
LexicalTag
ACX
ThesaurusID
-
Darier's Disease
Term UI
T022960
Date03/30/1974
LexicalTag
EPO
ThesaurusID