MCID: FML348
MIFTS: 13

Familial Pityriasis Rubra Pilaris

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Familial Pityriasis Rubra Pilaris

MalaCards integrated aliases for Familial Pityriasis Rubra Pilaris:

Name: Familial Pityriasis Rubra Pilaris 25 73
Familial Prp 25

Classifications:



External Ids:

UMLS 73 C2930842

Summaries for Familial Pityriasis Rubra Pilaris

Genetics Home Reference : 25 Familial pityriasis rubra pilaris is a rare genetic condition that affects the skin. The name of the condition reflects its major features: The term "pityriasis" refers to scaling; "rubra" means redness; and "pilaris" suggests the involvement of hair follicles in this disorder. Affected individuals have a salmon-colored skin rash covered in fine scales. This rash occurs in patches all over the body, with distinct areas of unaffected skin between the patches. Affected individuals also develop bumps called follicular keratoses that occur around hair follicles. The skin on the palms of the hands and soles of the feet often becomes thick, hard, and callused, a condition known as palmoplantar keratoderma.

MalaCards based summary : Familial Pityriasis Rubra Pilaris, also known as familial prp, is related to pityriasis rubra pilaris and psoriasis. An important gene associated with Familial Pityriasis Rubra Pilaris is CARD14 (Caspase Recruitment Domain Family Member 14). Affiliated tissues include skin.

Related Diseases for Familial Pityriasis Rubra Pilaris

Diseases in the Pityriasis Rubra Pilaris family:

Familial Pityriasis Rubra Pilaris

Diseases related to Familial Pityriasis Rubra Pilaris via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pityriasis rubra pilaris 10.6
2 psoriasis 10.2

Symptoms & Phenotypes for Familial Pityriasis Rubra Pilaris

Drugs & Therapeutics for Familial Pityriasis Rubra Pilaris

Search Clinical Trials , NIH Clinical Center for Familial Pityriasis Rubra Pilaris

Genetic Tests for Familial Pityriasis Rubra Pilaris

Anatomical Context for Familial Pityriasis Rubra Pilaris

MalaCards organs/tissues related to Familial Pityriasis Rubra Pilaris:

41
Skin

Publications for Familial Pityriasis Rubra Pilaris

Articles related to Familial Pityriasis Rubra Pilaris:

# Title Authors Year
1
Immune-regulatory genes as possible modifiers of familial pityriasis rubra pilaris - Lessons from a family with PRP and psoriasis. ( 29704870 )
2018
2
Beneficial effect of ustekinumab in familial pityriasis rubra pilaris with a new missense mutation in CARD14. ( 28301045 )
2017
3
CARD14 Glu138 mutation in familial pityriasis rubra pilaris does not warrant differentiation from familial psoriasis. ( 26130407 )
2015
4
Genetic analysis of CARD14 in non-familial pityriasis rubra pilaris: a case series. ( 24577624 )
2014
5
Clinical response to ustekinumab in familial pityriasis rubra pilaris caused by a novel mutation in CARD14. ( 24641799 )
2014
6
Familial pityriasis rubra pilaris: case report and review. ( 23815954 )
2013
7
Familial pityriasis rubra pilaris is caused by mutations in CARD14. ( 22703878 )
2012
8
Familial pityriasis rubra pilaris: report of a family and therapeutic response to etanercept. ( 20677542 )
2010
9
Familial pityriasis rubra pilaris (adult classic-I): a report of three cases in a single family. ( 14673347 )
2002
10
Familial pityriasis rubra pilaris. ( 7726588 )
1995

Variations for Familial Pityriasis Rubra Pilaris

Expression for Familial Pityriasis Rubra Pilaris

Search GEO for disease gene expression data for Familial Pityriasis Rubra Pilaris.

Pathways for Familial Pityriasis Rubra Pilaris

GO Terms for Familial Pityriasis Rubra Pilaris

Sources for Familial Pityriasis Rubra Pilaris

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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