PITYRIASIS RUBRA PILARIS

PRP

http://purl.bioontology.org/ontology/OMIM/173200

PRP

C0032027

17q25.3

PSS1

CARMA2

CARD14

PRP

BIMP2

PSORS2

http://purl.bioontology.org/ontology/OMIM/MTHU037083

http://purl.bioontology.org/ontology/OMIM/MTHU000701

http://purl.bioontology.org/ontology/OMIM/MTHU037077

http://purl.bioontology.org/ontology/OMIM/MTHU023034

http://purl.bioontology.org/ontology/OMIM/MTHU037078

http://purl.bioontology.org/ontology/OMIM/MTHU037087

http://purl.bioontology.org/ontology/OMIM/MTHU036315

http://purl.bioontology.org/ontology/OMIM/MTHU037085

http://purl.bioontology.org/ontology/OMIM/MTHU037081

http://purl.bioontology.org/ontology/OMIM/MTHU067342

http://purl.bioontology.org/ontology/OMIM/MTHU037089

http://purl.bioontology.org/ontology/OMIM/MTHU037079

http://purl.bioontology.org/ontology/OMIM/MTHU037080

http://purl.bioontology.org/ontology/OMIM/MTHU037086

http://purl.bioontology.org/ontology/OMIM/MTHU037084

http://purl.bioontology.org/ontology/OMIM/MTHU037088

http://purl.bioontology.org/ontology/OMIM/MTHU037082

http://purl.bioontology.org/ontology/OMIM/MTHU067343

Phenotype description, molecular basis known.

173200

3

pound

PITYRIASIS RUBRA PILARIS

The familial form of pityriasis rubra pilaris is generally resistant to treatment and persists [MISCELLANEOUS]

Caused by mutation in the caspase recruitment domain-containing protein 14 gene (CARD14, 607211.0006) [MOLECULAR BASIS]

Nails, palms, and soles are spared in some patients [MISCELLANEOUS]

Disease usually progresses in a cephalocaudal direction [MISCELLANEOUS]

Male-to-female ratio of 3:2 in childhood cases [MISCELLANEOUS]

T047