Details of Disease | DrugMAP

General Information of Disease (ID: DISEKWY1)

Disease Name	Familial pityriasis rubra pilaris
Synonyms	pityriasis rubra pilaris; hereditary pityriasis rubra pilaris; pityriasis rubra pilaris--familial type; PRP; Devergie's disease
Definition	A rare chronic papulosquamous disorder of unknown etiology characterized by small follicular papules, scaly red-orange patches, and palmoplantar hyperkeratosis, which may progress to plaques or erythroderma. Although most of the cases are sporadic and acquired, a familial form of the disease exists.
Disease Hierarchy	DISVC72D: Pityriasis rubra pilaris DISSCALK: Hereditary skin disorder DISEKWY1: Familial pityriasis rubra pilaris
Disease Identifiers	MONDO ID MONDO_0008251 MESH ID C531784 UMLS CUI C2930842 MedGen ID 443914

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CARD14	OTADQHOV	Strong	Autosomal dominant	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.