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 71
Pityriasis Rubra Pilaris--Familial Type 6
Familial Prp 43

Classifications:



External Ids:

UMLS 71 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 248)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CARD14 NM_001366385.1(CARD14):c.467T>C (p.Leu156Pro) SNV Pathogenic 35573 rs387907240 17:78157829-78157829 17:80184030-80184030
2 CARD14 CARD14, 3-BP DEL, 412GAG Deletion Pathogenic 35574
3 CARD14 CARD14, IVS3DS, G-A, +1 SNV Pathogenic 35575
4 SGSH NM_001366385.1(CARD14):c.2314C>T (p.Arg772Cys) SNV Uncertain significance 458096 rs577478029 17:78178056-78178056 17:80204257-80204257
5 CARD14 NM_001366385.1(CARD14):c.1759G>A (p.Gly587Ser) SNV Uncertain significance 458089 rs146855402 17:78172298-78172298 17:80198499-80198499
6 CARD14 NM_001366385.1(CARD14):c.299A>G (p.Tyr100Cys) SNV Uncertain significance 458104 rs552779505 17:78156539-78156539 17:80182740-80182740
7 CARD14 NM_001366385.1(CARD14):c.881C>T (p.Ala294Val) SNV Uncertain significance 444417 rs139466192 17:78163589-78163589 17:80189790-80189790
8 CARD14 NM_001366385.1(CARD14):c.203T>C (p.Met68Thr) SNV Uncertain significance 458092 rs773633754 17:78155440-78155440 17:80181641-80181641
9 SGSH NM_001366385.1(CARD14):c.2888C>T (p.Ala963Val) SNV Uncertain significance 458103 rs1176488460 17:78182017-78182017 17:80208218-80208218
10 SGSH NM_001366385.1(CARD14):c.2191G>A (p.Ala731Thr) SNV Uncertain significance 458093 rs537086902 17:78176191-78176191 17:80202392-80202392
11 SGSH NM_001366385.1(CARD14):c.2606A>G (p.Gln869Arg) SNV Uncertain significance 527866 rs529691290 17:78179366-78179366 17:80205567-80205567
12 CARD14 NM_001366385.1(CARD14):c.234G>T (p.Lys78Asn) SNV Uncertain significance 527867 rs143747620 17:78156474-78156474 17:80182675-80182675
13 SGSH NM_001366385.1(CARD14):c.2483G>A (p.Arg828Gln) SNV Uncertain significance 527868 rs147592804 17:78178918-78178918 17:80205119-80205119
14 CARD14 NM_001366385.1(CARD14):c.1778T>A (p.Ile593Asn) SNV Uncertain significance 68776 rs281875220 17:78172317-78172317 17:80198518-80198518
15 SGSH NM_001366385.1(CARD14):c.2641G>A (p.Gly881Arg) SNV Uncertain significance 527870 rs548495951 17:78179401-78179401 17:80205602-80205602
16 CARD14 NM_001366385.1(CARD14):c.1370C>T (p.Ser457Leu) SNV Uncertain significance 527871 rs776782295 17:78169003-78169003 17:80195204-80195204
17 CARD14 NM_001366385.1(CARD14):c.1288C>T (p.Arg430Trp) SNV Uncertain significance 527872 rs142895605 17:78166350-78166350 17:80192551-80192551
18 CARD14 NM_001366385.1(CARD14):c.556G>A (p.Ala186Thr) SNV Uncertain significance 458106 rs190213582 17:78157918-78157918 17:80184119-80184119
19 CARD14 NM_001366385.1(CARD14):c.1356+4C>T SNV Uncertain significance 527885 rs373428751 17:78166422-78166422 17:80192623-80192623
20 CARD14 NM_001366385.1(CARD14):c.778G>A (p.Gly260Arg) SNV Uncertain significance 565760 rs772988369 17:78162278-78162278 17:80188479-80188479
21 CARD14 NM_001366385.1(CARD14):c.1211G>T (p.Arg404Leu) SNV Uncertain significance 566495 rs978430125 17:78165243-78165243 17:80191444-80191444
22 CARD14 NM_001366385.1(CARD14):c.615T>C (p.Tyr205=) SNV Uncertain significance 567222 rs1042724807 17:78157977-78157977 17:80184178-80184178
23 CARD14 NM_001366385.1(CARD14):c.1471G>A (p.Asp491Asn) SNV Uncertain significance 567346 rs149030007 17:78169104-78169104 17:80195305-80195305
24 CARD14 NM_001366385.1(CARD14):c.937G>A (p.Val313Met) SNV Uncertain significance 567741 rs759854664 17:78163645-78163645 17:80189846-80189846
25 CARD14 NM_001366385.1(CARD14):c.1828C>T (p.Arg610Cys) SNV Uncertain significance 567960 rs371910172 17:78172367-78172367 17:80198568-80198568
26 SGSH NM_001366385.1(CARD14):c.2279G>A (p.Arg760His) SNV Uncertain significance 569055 rs143600438 17:78177680-78177680 17:80203881-80203881
27 CARD14 NM_001366385.1(CARD14):c.545G>A (p.Arg182His) SNV Uncertain significance 569336 rs149514734 17:78157907-78157907 17:80184108-80184108
28 CARD14 NM_001366385.1(CARD14):c.536G>A (p.Arg179His) SNV Uncertain significance 68783 rs199517469 17:78157898-78157898 17:80184099-80184099
29 CARD14 NM_001366385.1(CARD14):c.1046C>T (p.Ala349Val) SNV Uncertain significance 570720 rs770212092 17:78164655-78164655 17:80190856-80190856
30 SGSH NM_001366385.1(CARD14):c.2786_2788AGA[1] (p.Lys930del) Microsatellite Uncertain significance 572300 rs1474412398 17:78180863-78180865 17:80207064-80207066
31 CARD14 NM_001366385.1(CARD14):c.827C>A (p.Ser276Ter) SNV Uncertain significance 573655 rs149318654 17:78162327-78162327 17:80188528-80188528
32 CARD14 NM_001366385.1(CARD14):c.1658+9_1658+11del Microsatellite Uncertain significance 573934 rs773281285 17:78171965-78171967 17:80198166-80198168
33 SGSH NM_001366385.1(CARD14):c.1977C>T (p.Asp659=) SNV Uncertain significance 574056 rs200737962 17:78175668-78175668 17:80201869-80201869
34 CARD14 NM_001366385.1(CARD14):c.963+6G>A SNV Uncertain significance 574789 rs376630011 17:78163677-78163677 17:80189878-80189878
35 SGSH NM_001366385.1(CARD14):c.2353C>T (p.Arg785Cys) SNV Uncertain significance 575580 rs146332779 17:78178095-78178095 17:80204296-80204296
36 SGSH NM_001366385.1(CARD14):c.2315G>A (p.Arg772His) SNV Uncertain significance 576943 rs746635931 17:78178057-78178057 17:80204258-80204258
37 SGSH NM_001366385.1(CARD14):c.2517G>C (p.Lys839Asn) SNV Uncertain significance 576948 rs950950885 17:78178952-78178952 17:80205153-80205153
38 CARD14 NM_001366385.1(CARD14):c.1652C>T (p.Ser551Leu) SNV Uncertain significance 579124 rs201449588 17:78171955-78171955 17:80198156-80198156
39 CARD14 NM_001366385.1(CARD14):c.843+1G>T SNV Uncertain significance 579208 rs1567877527 17:78162344-78162344 17:80188545-80188545
40 CARD14 NM_001366385.1(CARD14):c.1330G>A (p.Asp444Asn) SNV Uncertain significance 580131 rs774755867 17:78166392-78166392 17:80192593-80192593
41 CARD14 NM_001366385.1(CARD14):c.131G>A (p.Arg44His) SNV Uncertain significance 582121 rs746969281 17:78155368-78155368 17:80181569-80181569
42 SGSH NM_001366385.1(CARD14):c.1927C>T (p.Leu643Phe) SNV Uncertain significance 582296 rs767152556 17:78175618-78175618 17:80201819-80201819
43 SGSH NM_001366385.1(CARD14):c.1901C>T (p.Thr634Met) SNV Uncertain significance 583194 rs141847758 17:78175592-78175592 17:80201793-80201793
44 CARD14 NM_001366385.1(CARD14):c.843G>A (p.Leu281=) SNV Uncertain significance 639077 rs1332503520 17:78162343-78162343 17:80188544-80188544
45 CARD14 NM_001366385.1(CARD14):c.250G>A (p.Gly84Arg) SNV Uncertain significance 640077 rs193262780 17:78156490-78156490 17:80182691-80182691
46 CARD14 NM_001366385.1(CARD14):c.1232C>T (p.Pro411Leu) SNV Uncertain significance 640300 rs564433759 17:78165264-78165264 17:80191465-80191465
47 SGSH NM_001366385.1(CARD14):c.1973C>T (p.Thr658Met) SNV Uncertain significance 640433 rs769208715 17:78175664-78175664 17:80201865-80201865
48 SGSH NM_001366385.1(CARD14):c.2473G>A (p.Ala825Thr) SNV Uncertain significance 640610 rs538251591 17:78178908-78178908 17:80205109-80205109
49 CARD14 NM_001366385.1(CARD14):c.877G>A (p.Glu293Lys) SNV Uncertain significance 641060 rs775291378 17:78163585-78163585 17:80189786-80189786
50 SGSH NM_001366385.1(CARD14):c.2477G>A (p.Arg826Gln) SNV Uncertain significance 641359 rs183322775 17:78178912-78178912 17:80205113-80205113

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
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44 MeSH
45 MESH via Orphanet
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49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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