MCID: FML348
MIFTS: 16

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 71
Familial Prp 25

Classifications:



External Ids:

UMLS 71 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. Researchers have distinguished six types of pityriasis rubra pilaris based on the features of the disorder and the age at which signs and symptoms appear. The familial form is usually considered part of type V, which is also known as the atypical juvenile type. People with familial pityriasis rubra pilaris typically have skin abnormalities from birth or early childhood, and these skin problems persist throughout life.

MalaCards based summary : Familial Pityriasis Rubra Pilaris, also known as familial prp, is related to pityriasis rubra pilaris and pustulosis of palm and sole. An important gene associated with Familial Pityriasis Rubra Pilaris is CARD14 (Caspase Recruitment Domain Family Member 14). Affiliated tissues include skin, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

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 29.4 NLRC5 DTX1 CARD14
2 pustulosis of palm and sole 10.5
3 psoriasis 10.5
4 psoriasis 2 10.2
5 palmoplantar keratosis 10.2
6 pustular psoriasis 10.2

Graphical network of the top 20 diseases related to Familial Pityriasis Rubra Pilaris:



Diseases related to Familial Pityriasis Rubra Pilaris

Symptoms & Phenotypes for Familial Pityriasis Rubra Pilaris

GenomeRNAi Phenotypes related to Familial Pityriasis Rubra Pilaris according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.58 CARD14
2 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.58 CARD14
3 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.58 DTX1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.58 CARD14
5 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.58 DTX1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-20 9.58 DTX1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-209 9.58 CARD14
8 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.58 CARD14
9 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.58 DTX1

MGI Mouse Phenotypes related to Familial Pityriasis Rubra Pilaris:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 8.8 CARD14 DTX1 NLRC5

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:

40
Skin

Publications for Familial Pityriasis Rubra Pilaris

Articles related to Familial Pityriasis Rubra Pilaris:

(show all 21)
# Title Authors PMID Year
1
Familial pityriasis rubra pilaris successfully treated with brodalumab. 61
32202311 2020
2
Familial pityriasis rubra pilaris in a Chinese family caused by a novel mutation in CARD14 gene. 61
31755479 2020
3
The management and genetic background of pityriasis rubra pilaris: a single-centre experience. 61
30697821 2019
4
Immune-regulatory genes as possible modifiers of familial pityriasis rubra pilaris - lessons from a family with PRP and psoriasis. 61
29704870 2018
5
CARD14-associated papulosquamous eruption: A spectrum including features of psoriasis and pityriasis rubra pilaris. 61
29477734 2018
6
Beneficial effect of ustekinumab in familial pityriasis rubra pilaris with a new missense mutation in CARD14. 61
28301045 2018
7
Nuclear Factor κB Activation in a Type V Pityriasis Rubra Pilaris Patient Harboring Multiple CARD14 Variants. 61
30018619 2018
8
Familial prion protein mutants inhibit Hrd1-mediated retrotranslocation of misfolded proteins by depleting misfolded protein sensor BiP. 61
26740554 2016
9
CARD14 Glu138 mutation in familial pityriasis rubra pilaris does not warrant differentiation from familial psoriasis. 61
26130407 2016
10
Cyclin-dependent kinase 5 phosphorylation of familial prion protein mutants exacerbates conversion into amyloid structure. 61
25572400 2015
11
Genetic analysis of CARD14 in non-familial pityriasis rubra pilaris: a case series. 61
24577624 2014
12
Clinical response to ustekinumab in familial pityriasis rubra pilaris caused by a novel mutation in CARD14. 61
24641799 2014
13
Familial pityriasis rubra pilaris: case report and review. 61
23815954 2013
14
Familial pityriasis rubra pilaris is caused by mutations in CARD14. 61
22703878 2012
15
Glycosaminoglycan sulphation affects the seeded misfolding of a mutant prion protein. 61
20808809 2010
16
Familial pityriasis rubra pilaris: report of a family and therapeutic response to etanercept. 61
20677542 2010
17
Functional depletion of mahogunin by cytosolically exposed prion protein contributes to neurodegeneration. 61
19524515 2009
18
Defective retrotranslocation causes loss of anti-Bax function in human familial prion protein mutants. 61
17494694 2007
19
Familial pityriasis rubra pilaris (adult classic-I): a report of three cases in a single family. 61
14673347 2002
20
Cerebral amyloidosis, amyloid angiopathy, and their relationship to stroke and dementia. 61
12214074 2001
21
Familial pityriasis rubra pilaris. 61
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
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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