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GENATLAS PHENOTYPE

last update : 09-06-2021

Symbol	PRP
Location	17q25.3
Name	pityriasis rubra pilaris
Other name(s)	PRP type V
Corresponding gene	CARD14
Other symbol(s)	PRPV
Main clinical features	uncommon skin disorder characterized by the appearance of keratotic follicular papules, well-demarcated salmon-colored erythematous plaques covered with fine powdery scales interspersed with distinct islands of uninvolved skin, and palmoplantar keratoderma papulosquamous disorder phenotypically related to psoriasis onset of disease between 4 months and 10 years of age
Genetic determination	autosomal dominant
Function/system disorder	dermatology
Type	disease

Remark(s)

. mut-CARD14 expression leads to fork instability following prolonged replication fork stalling but does not increase DSBs following short-term fork stalling, and mut-CARD14 promotes break-induced replication (BIR) in replication stress response (PMID: 34004138)) revertant mosaicism (RM) can occur in PRPV and implicates the involvement of BIR in reversion events (PMID: 34004138))

Genotype/Phenotype correlations

Psoriasis mutations disrupt CARD14 autoinhibition promoting BCL10-MALT1-dependent NFKB1 activation (PMID: 27071417))