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GENATLAS PHENOTYPE

last update : 06-06-2017

Symbol	KWE
Location	8p23.1
HGNC id	6468
Name	keratolytic winter erythema
Other name(s)	Oudtshoorn skin disease
Corresponding gene	CTSB
Main clinical features	erythema hyperkeratosis and peeling of the skin (palms and soles) especially during winter intermittent and recurrent centrifugal peeling with redness, particularly of the palms and soles
Genetic determination	autosomal dominant
Function/system disorder	dermatology
Type	disease

Remark(s)

tandem duplications in a non-coding genomic region containing an active enhancer element for CTSB, resulting in upregulation of this gene in affected individuals (PMID: 28457472))