Pityriasis rubra pilaris

Preferred Label : Pityriasis rubra pilaris;

Symbol : PRP;

CISMeF acronym : PRP;

Type : Phenotype, molecular basis known;

Description : Pityriasis rubra pilaris is an 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. Most cases are sporadic, although up to 6.5% of PRP-affected individuals report a positive family history. The rare familial cases show autosomal dominant inheritance with incomplete penetrance and variable expression: the disorder is usually present at birth or appears during the first years of life and is characterized by prominent follicular hyperkeratosis, diffuse palmoplantar keratoderma, and erythema, with only a modest response to treatment (summary by Fuchs-Telem et al., 2012).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the caspase recruitment domain-containing protein 14 gene (CARD14, 607211.0006);

Prefixed ID : #173200;

Details

Origin ID

173200;

UMLS CUI

C0032027;

Automatic exact mappings (from CISMeF team)
- ABCB6 wt Allele [NCIt concept]
- Atypical adult pityriasis rubra pilaris (disorder) [SNOMED CT concept]
- CARD14 wt Allele [NCIt concept]
- MSMB wt Allele [NCIt concept]
- Major Prion Protein [NCIt concept]
- PRNP wt Allele [NCIt concept]
- Panretinal photocoagulation (procedure) [SNOMED CT concept]
- Penicillin resistant Streptococcus pneumoniae (organism) [SNOMED CT concept]
- Platelet rich plasma [LOINC System]
- Platelet-rich Plasma [NCIt concept]
- Therapeutic Autologous Platelet-rich Plasma [NCIt concept]
- nucleus prepositus [UBERON concept]
- peroxiredoxin 2 [HGNC gene]
- prion protein [ORDO Gene]
- prion protein (Kanno blood group) [HGNC gene]
Currated CISMeF NLP mapping
- Pityriasis Rubra Pilaris [NCIt concept]
- Pityriasis rubra pilaris [PASCAL descriptor]
- Pityriasis rubra pilaris [ICD-10 Sub-category]
- Pityriasis rubra pilaris [ICD-11 Category]
- Pityriasis rubra pilaris [ICD-10 Sub-category (who)]
- Pityriasis rubra pilaris [MedDRA Preferred Term]
- Pityriasis rubra pilaris [ORDO Disease]
- Pityriasis rubra pilaris [ICD-9 code]
- Pityriasis rubra pilaris (disorder) [SNOMED CT concept]
- pityriasis rubra pilaris [DO Concept]
- pityriasis rubra pilaris [Disease (Nov.)]
- pityriasis rubra pilaris [MeSH Descriptor]
- pityriasis rubra pilaris [MeSH concept]
- pityriasis rubra pilaris [SNOMED Notion]
DO Cross reference
- pityriasis rubra pilaris [DO Concept]
Genes related to phenotype
- Caspase recruitment domain-containing protein 14 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Ectropion [HPO term]
- Erythematous plaque [HPO term]
- Hypergranulosis [HPO term]
- Infantile onset [HPO term]
- Keratosis pilaris [HPO term]
- Orthokeratosis [HPO term]
- Palmoplantar keratoderma [HPO term]
- Parakeratosis [HPO term]
- Subungual hyperkeratosis [HPO term]
ORDO concept(s)
- Pityriasis rubra pilaris [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pityriasis Rubra Pilaris [NCIt concept]
- Pityriasis rubra pilaris [ICD-10 Sub-category (who)]
- Pityriasis rubra pilaris [MedDRA Preferred Term]
- Pityriasis rubra pilaris [ORDO Disease]
- Pityriasis rubra pilaris [ICD-9 code]
- Pityriasis rubra pilaris [ICD-10 Sub-category]
- Pityriasis rubra pilaris [PASCAL descriptor]
- Pityriasis rubra pilaris [ICD-11 Category]
- Pityriasis rubra pilaris (disorder) [SNOMED CT concept]
- pityriasis rubra pilaris [SNOMED Notion]
- pityriasis rubra pilaris [MeSH Descriptor]
- pityriasis rubra pilaris [MeSH concept]
- pityriasis rubra pilaris [DO Concept]
- pityriasis rubra pilaris [Disease (Nov.)]

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