MCID: FML348
MIFTS: 22

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 43 70
Pityriasis Rubra Pilaris--Familial Type 6
Familial Prp 43

Classifications:



External Ids:

UMLS 70 C2930842

Summaries for Familial Pityriasis Rubra Pilaris

MedlinePlus Genetics : 43 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 pityriasis rubra pilaris--familial type, 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 29.8 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

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 13)
# Title Authors PMID Year
1
Familial pityriasis rubra pilaris is caused by mutations in CARD14. 6 61
22703878 2012
2
Familial pityriasis rubra pilaris successfully treated with brodalumab. 61
32202311 2020
3
Familial pityriasis rubra pilaris in a Chinese family caused by a novel mutation in CARD14 gene. 61
31755479 2020
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
CARD14 Glu138 mutation in familial pityriasis rubra pilaris does not warrant differentiation from familial psoriasis. 61
26130407 2016
8
Genetic analysis of CARD14 in non-familial pityriasis rubra pilaris: a case series. 61
24577624 2014
9
Clinical response to ustekinumab in familial pityriasis rubra pilaris caused by a novel mutation in CARD14. 61
24641799 2014
10
Familial pityriasis rubra pilaris: case report and review. 61
23815954 2013
11
Familial pityriasis rubra pilaris: report of a family and therapeutic response to etanercept. 61
20677542 2010
12
Familial pityriasis rubra pilaris (adult classic-I): a report of three cases in a single family. 61
14673347 2002
13
Familial pityriasis rubra pilaris. 61
7726588 1995

Variations for Familial Pityriasis Rubra Pilaris

ClinVar genetic disease variations for Familial Pityriasis Rubra Pilaris:

6 (show top 50) (show all 307)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CARD14 NM_001366385.1(CARD14):c.467T>C (p.Leu156Pro) SNV Pathogenic 35573 rs387907240 GRCh37: 17:78157829-78157829
GRCh38: 17:80184030-80184030
2 CARD14 CARD14, 3-BP DEL, 412GAG Deletion Pathogenic 35574 GRCh37:
GRCh38:
3 CARD14 CARD14, IVS3DS, G-A, +1 SNV Pathogenic 35575 GRCh37:
GRCh38:
4 CARD14 NM_001366385.1(CARD14):c.1437dup (p.Ser480fs) Duplication Pathogenic 998333 GRCh37: 17:78169064-78169065
GRCh38: 17:80195265-80195266
5 CARD14 NM_001366385.1(CARD14):c.3G>A (p.Met1Ile) SNV Pathogenic 1032158 GRCh37: 17:78155240-78155240
GRCh38: 17:80181441-80181441
6 CARD14 NM_001366385.1(CARD14):c.827C>A (p.Ser276Ter) SNV Pathogenic 573655 rs149318654 GRCh37: 17:78162327-78162327
GRCh38: 17:80188528-80188528
7 CARD14 NM_001366385.1(CARD14):c.892C>T (p.Arg298Ter) SNV Pathogenic 1033616 GRCh37: 17:78163600-78163600
GRCh38: 17:80189801-80189801
8 CARD14 NM_001366385.1(CARD14):c.1357-1G>A SNV Uncertain significance 1036534 GRCh37: 17:78168989-78168989
GRCh38: 17:80195190-80195190
9 CARD14 NM_001366385.1(CARD14):c.1673G>A (p.Arg558Gln) SNV Uncertain significance 1038335 GRCh37: 17:78172212-78172212
GRCh38: 17:80198413-80198413
10 SGSH , CARD14 NM_001366385.1(CARD14):c.2219+4A>G SNV Uncertain significance 1039285 GRCh37: 17:78176223-78176223
GRCh38: 17:80202424-80202424
11 SGSH , CARD14 NM_001366385.1(CARD14):c.3006C>A (p.Ser1002Arg) SNV Uncertain significance 1039431 GRCh37: 17:78182135-78182135
GRCh38: 17:80208336-80208336
12 SGSH , CARD14 NM_001366385.1(CARD14):c.2645G>A (p.Gly882Asp) SNV Uncertain significance 1039897 GRCh37: 17:78179405-78179405
GRCh38: 17:80205606-80205606
13 SGSH , CARD14 NM_001366385.1(CARD14):c.2626G>C (p.Glu876Gln) SNV Uncertain significance 1040385 GRCh37: 17:78179386-78179386
GRCh38: 17:80205587-80205587
14 CARD14 NM_001366385.1(CARD14):c.1529C>T (p.Pro510Leu) SNV Uncertain significance 1042084 GRCh37: 17:78169386-78169386
GRCh38: 17:80195587-80195587
15 CARD14 NM_001366385.1(CARD14):c.827C>T (p.Ser276Leu) SNV Uncertain significance 1043433 GRCh37: 17:78162327-78162327
GRCh38: 17:80188528-80188528
16 CARD14 NM_001366385.1(CARD14):c.1396G>A (p.Glu466Lys) SNV Uncertain significance 1043577 GRCh37: 17:78169029-78169029
GRCh38: 17:80195230-80195230
17 CARD14 NM_001366385.1(CARD14):c.463C>T (p.Gln155Ter) SNV Uncertain significance 1044572 GRCh37: 17:78157825-78157825
GRCh38: 17:80184026-80184026
18 CARD14 NM_001366385.1(CARD14):c.1462G>A (p.Val488Met) SNV Uncertain significance 1044913 GRCh37: 17:78169095-78169095
GRCh38: 17:80195296-80195296
19 SGSH , CARD14 NM_001366385.1(CARD14):c.2192C>T (p.Ala731Val) SNV Uncertain significance 1046148 GRCh37: 17:78176192-78176192
GRCh38: 17:80202393-80202393
20 CARD14 NM_001366385.1(CARD14):c.670G>A (p.Glu224Lys) SNV Uncertain significance 1046598 GRCh37: 17:78158032-78158032
GRCh38: 17:80184233-80184233
21 SGSH , CARD14 NM_001366385.1(CARD14):c.2419G>A (p.Ala807Thr) SNV Uncertain significance 1047098 GRCh37: 17:78178854-78178854
GRCh38: 17:80205055-80205055
22 CARD14 NM_001366385.1(CARD14):c.130C>T (p.Arg44Cys) SNV Uncertain significance 1047396 GRCh37: 17:78155367-78155367
GRCh38: 17:80181568-80181568
23 SGSH , CARD14 NM_001366385.1(CARD14):c.3011G>A (p.Arg1004Gln) SNV Uncertain significance 1047570 GRCh37: 17:78182140-78182140
GRCh38: 17:80208341-80208341
24 CARD14 NM_001366385.1(CARD14):c.1739T>C (p.Leu580Pro) SNV Uncertain significance 1051648 GRCh37: 17:78172278-78172278
GRCh38: 17:80198479-80198479
25 SGSH , CARD14 NM_001366385.1(CARD14):c.2278C>T (p.Arg760Cys) SNV Uncertain significance 1052016 GRCh37: 17:78177679-78177679
GRCh38: 17:80203880-80203880
26 SGSH , CARD14 NM_001366385.1(CARD14):c.2227C>G (p.Gln743Glu) SNV Uncertain significance 1052843 GRCh37: 17:78177628-78177628
GRCh38: 17:80203829-80203829
27 CARD14 NM_001366385.1(CARD14):c.1340T>C (p.Leu447Pro) SNV Uncertain significance 1053840 GRCh37: 17:78166402-78166402
GRCh38: 17:80192603-80192603
28 CARD14 NM_001366385.1(CARD14):c.1500-5T>G SNV Uncertain significance 1055279 GRCh37: 17:78169352-78169352
GRCh38: 17:80195553-80195553
29 SGSH , CARD14 NM_001366385.1(CARD14):c.2392dup (p.Met798fs) Duplication Uncertain significance 1056307 GRCh37: 17:78178133-78178134
GRCh38: 17:80204334-80204335
30 CARD14 NM_001366385.1(CARD14):c.613T>A (p.Tyr205Asn) SNV Uncertain significance 1056705 GRCh37: 17:78157975-78157975
GRCh38: 17:80184176-80184176
31 CARD14 NM_001366385.1(CARD14):c.105C>G (p.Cys35Trp) SNV Uncertain significance 1056814 GRCh37: 17:78155342-78155342
GRCh38: 17:80181543-80181543
32 CARD14 NM_001366385.1(CARD14):c.884G>A (p.Arg295Gln) SNV Uncertain significance 1057167 GRCh37: 17:78163592-78163592
GRCh38: 17:80189793-80189793
33 CARD14 NM_001366385.1(CARD14):c.1357-2A>C SNV Uncertain significance 1057689 GRCh37: 17:78168988-78168988
GRCh38: 17:80195189-80195189
34 CARD14 NM_001366385.1(CARD14):c.652C>T (p.Arg218Cys) SNV Uncertain significance 1059512 GRCh37: 17:78158014-78158014
GRCh38: 17:80184215-80184215
35 CARD14 NM_001366385.1(CARD14):c.1178C>G (p.Thr393Arg) SNV Uncertain significance 1060735 GRCh37: 17:78165210-78165210
GRCh38: 17:80191411-80191411
36 SGSH , CARD14 NM_001366385.1(CARD14):c.2692-8C>A SNV Uncertain significance 1061148 GRCh37: 17:78180761-78180761
GRCh38: 17:80206962-80206962
37 CARD14 NM_001366385.1(CARD14):c.1659-1G>A SNV Uncertain significance 1061817 GRCh37: 17:78172197-78172197
GRCh38: 17:80198398-80198398
38 CARD14 NM_001366385.1(CARD14):c.1705G>A (p.Val569Ile) SNV Uncertain significance 1061836 GRCh37: 17:78172244-78172244
GRCh38: 17:80198445-80198445
39 SGSH , CARD14 NM_001366385.1(CARD14):c.2354G>A (p.Arg785His) SNV Uncertain significance 1062002 GRCh37: 17:78178096-78178096
GRCh38: 17:80204297-80204297
40 SGSH , CARD14 NM_001366385.1(CARD14):c.2226G>C (p.Gln742His) SNV Uncertain significance 1062643 GRCh37: 17:78177627-78177627
GRCh38: 17:80203828-80203828
41 SGSH , CARD14 NM_001366385.1(CARD14):c.2220-3C>T SNV Uncertain significance 1062950 GRCh37: 17:78177618-78177618
GRCh38: 17:80203819-80203819
42 SGSH , CARD14 NM_001366385.1(CARD14):c.2035T>C (p.Phe679Leu) SNV Uncertain significance 1063575 GRCh37: 17:78176035-78176035
GRCh38: 17:80202236-80202236
43 CARD14 NM_001366385.1(CARD14):c.428A>C (p.Lys143Thr) SNV Uncertain significance 1064207 GRCh37: 17:78157790-78157790
GRCh38: 17:80183991-80183991
44 SGSH , CARD14 NM_001366385.1(CARD14):c.1960G>C (p.Val654Leu) SNV Uncertain significance 999073 GRCh37: 17:78175651-78175651
GRCh38: 17:80201852-80201852
45 SGSH , CARD14 NM_001366385.1(CARD14):c.2924G>C (p.Trp975Ser) SNV Uncertain significance 1000985 GRCh37: 17:78182053-78182053
GRCh38: 17:80208254-80208254
46 SGSH , CARD14 NM_001366385.1(CARD14):c.2570-9C>G SNV Uncertain significance 1001503 GRCh37: 17:78179321-78179321
GRCh38: 17:80205522-80205522
47 CARD14 NM_001366385.1(CARD14):c.1198C>T (p.Arg400Cys) SNV Uncertain significance 1002660 GRCh37: 17:78165230-78165230
GRCh38: 17:80191431-80191431
48 SGSH , CARD14 NM_001366385.1(CARD14):c.2938G>A (p.Gly980Ser) SNV Uncertain significance 1003476 GRCh37: 17:78182067-78182067
GRCh38: 17:80208268-80208268
49 SGSH , CARD14 NM_001366385.1(CARD14):c.3010C>T (p.Arg1004Ter) SNV Uncertain significance 1004740 GRCh37: 17:78182139-78182139
GRCh38: 17:80208340-80208340
50 CARD14 NM_001366385.1(CARD14):c.79C>T (p.Arg27Cys) SNV Uncertain significance 1005594 GRCh37: 17:78155316-78155316
GRCh38: 17:80181517-80181517

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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53 NINDS
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
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71 UMLS via Orphanet
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