PRP
MCID: PTY003
MIFTS: 58

Pityriasis Rubra Pilaris (PRP)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Pityriasis Rubra Pilaris

MalaCards integrated aliases for Pityriasis Rubra Pilaris:

Name: Pityriasis Rubra Pilaris 56 12 74 52 58 73 36 29 13 6 43 15 39 71 32
Prp 56 73
Devergie's Disease 12

Characteristics:

Orphanet epidemiological data:

58
pityriasis rubra pilaris
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
male-to-female ratio of 3:2 in childhood cases
disease usually progresses in a cephalocaudal direction
nails, palms, and soles are spared in some patients
the familial form of pityriasis rubra pilaris is generally resistant to treatment and persists


HPO:

31
pityriasis rubra pilaris:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:9212
OMIM 56 173200
KEGG 36 H01659
ICD9CM 34 696.4
MeSH 43 D010916
NCIt 49 C85014
SNOMED-CT 67 3755001
ICD10 32 L44.0
MESH via Orphanet 44 D010916
ICD10 via Orphanet 33 L44.0
UMLS via Orphanet 72 C0032027
Orphanet 58 ORPHA2897
MedGen 41 C0032027
UMLS 71 C0032027

Summaries for Pityriasis Rubra Pilaris

KEGG : 36 Pityriasis rubra pilaris (PRP) is a spectrum of rare chronic inflammatory disorders with papulosquamous eruptions of unknown cause. The prototypical clinical characteristics of PRP are follicular hyperkeratotic papules on an erythematous base that can eventually coalesce to large red plaques. Its classification into five subgroups is based on age at onset, clinical course, morphologic features, and prognosis. More than 50% of patients are best classified as type I with adult-onset PRP. It is comprised of widespread, follicular papules and plaques and tends to clear spontaneously in 80% of patients in one to three years. Type II, which is the atypical adult subtype, tends to be more chronic and presents with areas of alopecia, eczematous patches, and a palmoplantar keratoderma. The classic juvenile type III is observed in only 10% of patients. It is similar clinically to type I but occurs in children and tends to remit in one year. Type IV, which is the circumscribed, juvenile subtype, presents with sharply-demarcated areas of follicular hyperkeratosis and erythema of the elbows and knees. An estimated 5% of children with PRP develop an atypical form classified as juvenile type V. Most familial cases that are published belong to this group. Recently, the designation of a new category of PRP (type VI) has been proposed that is characterized by the presence of HIV infection with different clinical features and a poorer prognosis. Treatment of PRP can be difficult, and no standardized approach has been established, although systemic retinoids are considered first-line therapy. Cyclosporin, methotrexate, and azathioprine are alternatives.

MalaCards based summary : Pityriasis Rubra Pilaris, also known as prp, is related to familial pityriasis rubra pilaris and pustular psoriasis. An important gene associated with Pityriasis Rubra Pilaris is CARD14 (Caspase Recruitment Domain Family Member 14), and among its related pathways/superpathways are T cell receptor signaling pathway and NF-kappaB Signaling. The drugs Salicylic acid and Dermatologic Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, t cells and thyroid, and related phenotypes are papule and palmoplantar keratoderma

NIH Rare Diseases : 52 Pityriasis rubra pilaris (PRP) refers to a group of skin conditions that cause constant inflammation and scaling of the skin. People with PRP have reddish, scaly patches that may occur everywhere on the body, or only on certain areas. Some people with PRP also develop thickened skin on the underside of the hands and feet (palmoplantar keratoderma ), various nail abnormalities, and/or thinning of the hair. There are several types of PRP classified by age when symptoms begin, body areas involved, and whether other conditions are present. This condition occurs in adults (adult onset PRP) as well as children (juvenile onset PRP). In most cases, PRP is not inherited and the cause is not known. In some people, particularly some with type V (the "atypical juvenile type"), PRP has autosomal dominant inheritance and may be caused by mutations in the CARD14 gene . Treatment options vary based on symptoms and severity. No one treatment works for all people with PRP. Examples of treatment options include topical emollients or medications, oral retinoids , and/or immunosuppressants .

OMIM : 56 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). (173200)

UniProtKB/Swiss-Prot : 73 Pityriasis rubra pilaris: A rare, papulosquamous skin disease 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. The rare familial cases show autosomal dominant inheritance with incomplete penetrance and variable expression. Familial PRP usually presents at birth or appears during the first years of life and runs a chronic course. It is characterized by prominent follicular hyperkeratosis, diffuse palmoplantar keratoderma, and erythema.

Wikipedia : 74 Pityriasis rubra pilaris refers to a group of chronic disorders characterized by reddish orange, scaling... more...

Related Diseases for Pityriasis Rubra Pilaris

Diseases in the Pityriasis Rubra Pilaris family:

Familial Pityriasis Rubra Pilaris

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

(show top 50) (show all 413)
# Related Disease Score Top Affiliating Genes
1 familial pityriasis rubra pilaris 35.2 NLRC5 DTX1 CARD14
2 pustular psoriasis 31.0 TNF IL36RN
3 psoriasis 31.0 TNFRSF1B TNF IL36RN IL17A CARD14
4 pustulosis palmaris et plantaris 30.5 TNF IL36RN
5 skin disease 30.5 TNFRSF1B TNF IL36RN IL17A GJB4 CARD14
6 psoriatic arthritis 29.9 TNFRSF1B TNF IL36RN IL17A CARD14
7 pustulosis of palm and sole 29.6 TNFRSF1B TNF PSTPIP1 LPIN2 IL36RN IL1RL2
8 prp systemic amyloidosis 12.2
9 phosphoribosylpyrophosphate synthetase superactivity 11.5
10 scrapie 11.2
11 prion disease 11.1
12 encephalopathy 11.0
13 keratosis 11.0
14 rapidly involuting congenital hemangioma 11.0
15 palmoplantar keratosis 10.9
16 creutzfeldt-jakob disease 10.9
17 haemophilus influenzae 10.7
18 neuroblastoma 10.7
19 exanthem 10.7
20 neurofibromatosis, type ii 10.6
21 immune deficiency disease 10.6
22 dermatomyositis 10.6
23 chronic wasting disease 10.6
24 ataxia and polyneuropathy, adult-onset 10.6
25 vitiligo-associated multiple autoimmune disease susceptibility 6 10.5
26 vitiligo-associated multiple autoimmune disease susceptibility 1 10.5
27 ectropion 10.5
28 ichthyosis 10.5
29 grover's disease 10.5
30 osteoarthritis 10.5
31 autoimmune disease 10.5
32 dowling-degos disease 1 10.5
33 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.5
34 hypothyroidism 10.5
35 dermatitis 10.5
36 herpes simplex 10.5
37 lupus erythematosus 10.5
38 actinic keratosis 10.5
39 pemphigus 10.5
40 alopecia 10.5
41 diffuse palmoplantar keratoderma 10.5
42 alzheimer disease 10.5
43 tendinitis 10.4
44 tendinopathy 10.4
45 gerstmann-straussler disease 10.4
46 fatal familial insomnia 10.4
47 helix syndrome 10.4
48 ainhum 10.4
49 epidermolytic hyperkeratosis 10.4
50 colorectal cancer 10.4

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



Diseases related to Pityriasis Rubra Pilaris

Symptoms & Phenotypes for Pityriasis Rubra Pilaris

Human phenotypes related to Pityriasis Rubra Pilaris:

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 papule 58 31 hallmark (90%) Very frequent (99-80%) HP:0200034
2 palmoplantar keratoderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000982
3 irregular hyperpigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007400
4 erythroderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0001019
5 pruritus 58 31 frequent (33%) Frequent (79-30%) HP:0000989
6 subungual hyperkeratosis 58 31 frequent (33%) Frequent (79-30%) HP:0008392
7 ichthyosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008064
8 neoplasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0002664
9 eczema 58 31 occasional (7.5%) Occasional (29-5%) HP:0000964
10 lichenification 58 31 occasional (7.5%) Occasional (29-5%) HP:0100725
11 abnormal oral cavity morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0000163
12 pustule 58 31 occasional (7.5%) Occasional (29-5%) HP:0200039
13 ectropion 31 occasional (7.5%) HP:0000656
14 abnormality of the nail 58 Frequent (79-30%)
15 thickened skin 58 Frequent (79-30%)
16 parakeratosis 31 HP:0001036
17 hypergranulosis 31 HP:0025114
18 orthokeratosis 31 HP:0040162

Symptoms via clinical synopsis from OMIM:

56
Skin Nails Hair Skin:
palmoplantar keratoderma
papules, keratotic follicular
plaques, erythematous, covered with fine powdery scales
islands of uninvolved skin

Head And Neck Head:
scaly scalp (in some patients)

Skin Nails Hair Skin Histology:
hyperkeratosis, mild to moderate
focal parakeratosis
focal orthokeratosis
focal hypergranulosis
mild acanthosis, with broad and blunted rete ridges
more
Skin Nails Hair Nails:
subungual hyperkeratosis
discoloration, yellow-brown
nail plate thickening
splinter hemorrhages
transverse ridging

Head And Neck Eyes:
ectropion, bilateral (in some patients)

Clinical features from OMIM:

173200

MGI Mouse Phenotypes related to Pityriasis Rubra Pilaris:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.93 CARD11 DTX1 GJB4 IL17A IL1RL2 IL36RN
2 immune system MP:0005387 9.77 CARD11 CARD14 DTX1 GJB4 IL17A IL1RL2
3 integument MP:0010771 9.23 CARD11 CARD14 IL17A IL1RL2 IL36RN SGSH

Drugs & Therapeutics for Pityriasis Rubra Pilaris

Drugs for Pityriasis Rubra Pilaris (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Salicylic acid Approved, Investigational, Vet_approved Phase 4 69-72-7 338
2 Dermatologic Agents Phase 4
3 Immunosuppressive Agents Phase 4
4 Immunologic Factors Phase 4
5 Emollients Phase 4
6 Ixekizumab Approved, Investigational Phase 2 1143503-69-8
7 Interleukin-23 Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Pilot Study of Alefacept for the Treatment of Pityriasis Rubra Pilaris. Terminated NCT00815633 Phase 4 Alefacept
2 Efficacy and Safety of Salkera Emollient Foam in the Treatment of Moderate to Severe Keratosis Pilaris, a Prospective Study Terminated NCT00944216 Phase 4 Salkera Emollient Foam
3 Ixekizumab in the Treatment of Pityriasis Rubra Pilaris (PRP) Completed NCT03485976 Phase 2 Ixekizumab
4 An Open Label Pilot Trial of Guselkumab in the Treatment of Adults With Pityriasis Rubra Pilaris (PRP) Recruiting NCT03975153 Phase 2
5 Cosentyx (Secukinumab) for the Treatment of Adult Onset Pityriasis Rubra Pilaris: A Single Arm, Open-label Exploratory Trial Enrolling by invitation NCT03342573 Phase 1 Cosentyx

Search NIH Clinical Center for Pityriasis Rubra Pilaris

Cochrane evidence based reviews: pityriasis rubra pilaris

Genetic Tests for Pityriasis Rubra Pilaris

Genetic tests related to Pityriasis Rubra Pilaris:

# Genetic test Affiliating Genes
1 Pityriasis Rubra Pilaris 29 CARD14

Anatomical Context for Pityriasis Rubra Pilaris

MalaCards organs/tissues related to Pityriasis Rubra Pilaris:

40
Skin, T Cells, Thyroid, Liver, Testes, Bone, Colon

Publications for Pityriasis Rubra Pilaris

Articles related to Pityriasis Rubra Pilaris:

(show top 50) (show all 699)
# Title Authors PMID Year
1
Familial pityriasis rubra pilaris is caused by mutations in CARD14. 6 56 61
22703878 2012
2
(Juvenile) Pityriasis rubra pilaris. 61 56
16650174 2006
3
Familial pityriasis rubra pilaris (adult classic-I): a report of three cases in a single family. 61 56
14673347 2002
4
Pityriasis rubra pilaris (PRP): report of four cases. 61 56
10774144 2000
5
Familial pityriasis rubra pilaris. 61 56
7726588 1995
6
Pityriasis rubra pilaris: the problem of its classification. 61 56
1732330 1992
7
Pityriasis rubra pilaris. Etiologic considerations. 56 61
6736336 1984
8
Pityriasis rubra pilaris, a familial condition. 56 61
4670284 1972
9
Pityriasis rubra pilaris in Korea. Treatment with methotrexate. 56 61
5371703 1969
10
Beneficial effect of ustekinumab in familial pityriasis rubra pilaris with a new missense mutation in CARD14. 61 52
28301045 2018
11
Pityriasis Rubra Pilaris Type V as an Autoinflammatory Disease by CARD14 Mutations. 61 52
27760266 2017
12
Familial pityriasis rubra pilaris successfully treated with brodalumab. 61
32202311 2020
13
Paraneoplastic Pityriasis Rubra Pilaris Heralding Onset of New Hematologic Malignancy. 61
32501564 2020
14
Influence of COVID-19 pandemic on hospitalizations at the tertiary dermatology department in south-west Poland. 61
32478949 2020
15
Erythroderma: a prospective study of 309 patients followed for 12 years in a tertiary center. 61
32555205 2020
16
[Atypical Sézary syndrome in a young subject]. 61
31806381 2020
17
Histopathologic findings characteristic of CARD14-associated papulosquamous eruption. 61
31849081 2020
18
Hyperkeratotic Skin Adverse Events Induced by Anticancer Treatments: A Comprehensive Review. 61
31981081 2020
19
Refractory classic juvenile pityriasis rubra pilaris successfully treated with a combination of etanercept and methotrexate. 61
32314486 2020
20
"Successful treatment of resistant pityriasis rubra pilaris with ixekizumab". 61
32441433 2020
21
Successful treatment of Pityriasis rubra pilaris with brodalumab. 61
31851372 2020
22
Evaluation of Ixekizumab Treatment for Patients With Pityriasis Rubra Pilaris: A Single-Arm Trial. 61
32293641 2020
23
Pulsed dye laser as an adjunctive treatment for therapy resistant pityriasis rubra pilaris. 61
32171814 2020
24
Treatment modalities for pityriasis rubra pilaris subtypes: a review. 61
32073340 2020
25
[Pityriasis rubra pilaris : Successful treatment with ixekizumab]. 61
32185430 2020
26
Off-label dermatologic uses of IL-17 inhibitors. 61
32116066 2020
27
Acral pityriasis rubra pilaris. 61
32015081 2020
28
Dermatoscopy in life-threatening and severe acute rashes. 61
32197741 2020
29
Recessive mosaicism in ABCA12 causes blaschkoid congenital ichthyosiform erythroderma. 61
31206590 2020
30
Familial pityriasis rubra pilaris in a Chinese family caused by a novel mutation in CARD14 gene. 61
31755479 2020
31
Acantholytic pityriasis rubra pilaris associated with topical use of imiquimod 5%: case report and literature review. 61
31789270 2020
32
Use of Biologics in Pityriasis Rubra Pilaris Refractory to First-Line Systemic Therapy: A Systematic Review [Formula: see text]. 61
31691587 2020
33
Rapid response to cyclosporine in a rare case of pityriasis rubra pilaris with autoantibodies and systemic symptoms. 61
29417801 2019
34
Rapid response of pityriasis rubra pilaris with psoriasis overlap to secukinumab. 61
31260082 2019
35
Paraneoplastic pityriasis rubra pilaris in association with prostate carcinoma: A case report and literature review. 61
31798725 2019
36
Pityriasis rubra pilaris-like graft-vs-host disease following allogeneic stem cell transplant in two patients. 61
31893086 2019
37
A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings. 61
31883530 2019
38
Coexistence of Anogenital Psoriasis and Genital Warts - Is There an Optimal Treatment? 61
31969241 2019
39
Pityriasis rubra pilaris as a systemic disease. 61
31864444 2019
40
Treatment of Pityriasis Rubra Pilaris With Guselkumab. 61
31577328 2019
41
Treatment of pityriasis rubra pilaris type I: a systematic review. 61
31789274 2019
42
Patient experiences with biologics and apremilast in pityriasis rubra pilaris: A patient survey. 61
31397958 2019
43
Pityriasis rubra pilaris: A study evaluating patient quality of life in 2 populations. 61
30710600 2019
44
Erythroderma in the course of pityriasis rubra pilaris in a 7-year-old female. 61
31616230 2019
45
Pityriasis rubra pilaris-like eruption in the setting of transient acantholytic dermatosis. 61
31440571 2019
46
Erythroderma secondary to pityriasis rubra pilaris. 61
31670278 2019
47
[Paraneoplastic skin diseases]. 61
31273399 2019
48
Efficacy of methotrexate as anti-inflammatory and anti-proliferative drug in dermatology: Three case reports. 61
31384322 2019
49
Whole exome sequencing approach to childhood onset familial erythrodermic psoriasis unravels a novel mutation of CARD14 requiring unusual high doses of ustekinumab. 61
31286971 2019
50
Dermoscopy of Erythrodermic Pityriasis Rubra Pilaris. 61
31334088 2019

Variations for Pityriasis Rubra Pilaris

ClinVar genetic disease variations for Pityriasis Rubra Pilaris:

6 (show top 50) (show all 207) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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, 412GAGdeletion Pathogenic 35574
3 CARD14 CARD14, IVS3DS, G-A, +1SNV Pathogenic 35575
4 CARD14 NM_001366385.1(CARD14):c.589G>A (p.Glu197Lys)SNV Conflicting interpretations of pathogenicity 420946 rs200790561 17:78157951-78157951 17:80184152-80184152
5 CARD14 NM_001366385.1(CARD14):c.881C>T (p.Ala294Val)SNV Uncertain significance 444417 rs139466192 17:78163589-78163589 17:80189790-80189790
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.556G>A (p.Ala186Thr)SNV Uncertain significance 458106 rs190213582 17:78157918-78157918 17:80184119-80184119
8 CARD14 NM_001366385.1(CARD14):c.2191G>A (p.Ala731Thr)SNV Uncertain significance 458093 rs537086902 17:78176191-78176191 17:80202392-80202392
9 CARD14 NM_001366385.1(CARD14):c.203T>C (p.Met68Thr)SNV Uncertain significance 458092 rs773633754 17:78155440-78155440 17:80181641-80181641
10 CARD14 NM_001366385.1(CARD14):c.1759G>A (p.Gly587Ser)SNV Uncertain significance 458089 rs146855402 17:78172298-78172298 17:80198499-80198499
11 CARD14 NM_001366385.1(CARD14):c.2314C>T (p.Arg772Cys)SNV Uncertain significance 458096 rs577478029 17:78178056-78178056 17:80204257-80204257
12 CARD14 NM_001366385.1(CARD14):c.2888C>T (p.Ala963Val)SNV Uncertain significance 458103 rs1176488460 17:78182017-78182017 17:80208218-80208218
13 CARD14 NM_001366385.1(CARD14):c.234G>T (p.Lys78Asn)SNV Uncertain significance 527867 rs143747620 17:78156474-78156474 17:80182675-80182675
14 CARD14 NM_001366385.1(CARD14):c.1370C>T (p.Ser457Leu)SNV Uncertain significance 527871 rs776782295 17:78169003-78169003 17:80195204-80195204
15 CARD14 NM_001366385.1(CARD14):c.1288C>T (p.Arg430Trp)SNV Uncertain significance 527872 rs142895605 17:78166350-78166350 17:80192551-80192551
16 CARD14 NM_001366385.1(CARD14):c.1356+4C>TSNV Uncertain significance 527885 rs373428751 17:78166422-78166422 17:80192623-80192623
17 CARD14 NM_001366385.1(CARD14):c.1805C>T (p.Ser602Leu)SNV Uncertain significance 527869 rs201285077 17:78172344-78172344 17:80198545-80198545
18 CARD14 NM_001366385.1(CARD14):c.2517G>C (p.Lys839Asn)SNV Uncertain significance 576948 rs950950885 17:78178952-78178952 17:80205153-80205153
19 CARD14 NM_001366385.1(CARD14):c.131G>A (p.Arg44His)SNV Uncertain significance 582121 rs746969281 17:78155368-78155368 17:80181569-80181569
20 CARD14 NM_001366385.1(CARD14):c.937G>A (p.Val313Met)SNV Uncertain significance 567741 rs759854664 17:78163645-78163645 17:80189846-80189846
21 CARD14 NM_001366385.1(CARD14):c.963+6G>ASNV Uncertain significance 574789 rs376630011 17:78163677-78163677 17:80189878-80189878
22 CARD14 NM_001366385.1(CARD14):c.1330G>A (p.Asp444Asn)SNV Uncertain significance 580131 rs774755867 17:78166392-78166392 17:80192593-80192593
23 CARD14 NM_001366385.1(CARD14):c.1652C>T (p.Ser551Leu)SNV Uncertain significance 579124 rs201449588 17:78171955-78171955 17:80198156-80198156
24 CARD14 NM_001366385.1(CARD14):c.1901C>T (p.Thr634Met)SNV Uncertain significance 583194 rs141847758 17:78175592-78175592 17:80201793-80201793
25 CARD14 NM_001366385.1(CARD14):c.2786_2788AGA[1] (p.Lys930del)short repeat Uncertain significance 572300 rs1474412398 17:78180863-78180865 17:80207064-80207066
26 CARD14 NM_001366385.1(CARD14):c.35C>T (p.Thr12Met)SNV Uncertain significance 662047 17:78155272-78155272 17:80181473-80181473
27 CARD14 NM_001366385.1(CARD14):c.40C>G (p.Leu14Val)SNV Uncertain significance 644953 17:78155277-78155277 17:80181478-80181478
28 CARD14 NM_001366385.1(CARD14):c.94C>T (p.Arg32Cys)SNV Uncertain significance 645960 17:78155331-78155331 17:80181532-80181532
29 CARD14 NM_001366385.1(CARD14):c.205C>T (p.Arg69Trp)SNV Uncertain significance 662399 17:78155442-78155442 17:80181643-80181643
30 CARD14 NM_001366385.1(CARD14):c.236C>T (p.Thr79Ile)SNV Uncertain significance 645768 17:78156476-78156476 17:80182677-80182677
31 CARD14 NM_001366385.1(CARD14):c.250G>A (p.Gly84Arg)SNV Uncertain significance 640077 17:78156490-78156490 17:80182691-80182691
32 CARD14 NM_001366385.1(CARD14):c.348C>T (p.Ser116=)SNV Uncertain significance 659668 17:78156588-78156588 17:80182789-80182789
33 CARD14 NM_001366385.1(CARD14):c.356T>C (p.Met119Thr)SNV Uncertain significance 660052 17:78157718-78157718 17:80183919-80183919
34 CARD14 NM_001366385.1(CARD14):c.496C>G (p.Arg166Gly)SNV Uncertain significance 648607 17:78157858-78157858 17:80184059-80184059
35 CARD14 NM_001366385.1(CARD14):c.496C>T (p.Arg166Cys)SNV Uncertain significance 644802 17:78157858-78157858 17:80184059-80184059
36 CARD14 NM_001366385.1(CARD14):c.675G>A (p.Glu225=)SNV Uncertain significance 644107 17:78158037-78158037 17:80184238-80184238
37 CARD14 NM_001366385.1(CARD14):c.843G>A (p.Leu281=)SNV Uncertain significance 639077 17:78162343-78162343 17:80188544-80188544
38 CARD14 NM_001366385.1(CARD14):c.877G>A (p.Glu293Lys)SNV Uncertain significance 641060 17:78163585-78163585 17:80189786-80189786
39 CARD14 NM_001366385.1(CARD14):c.946G>A (p.Glu316Lys)SNV Uncertain significance 650251 17:78163654-78163654 17:80189855-80189855
40 CARD14 NM_001366385.1(CARD14):c.1099G>T (p.Ala367Ser)SNV Uncertain significance 643479 17:78165131-78165131 17:80191332-80191332
41 CARD14 NM_001366385.1(CARD14):c.1100C>T (p.Ala367Val)SNV Uncertain significance 645669 17:78165132-78165132 17:80191333-80191333
42 CARD14 NM_001366385.1(CARD14):c.1192G>A (p.Glu398Lys)SNV Uncertain significance 642394 17:78165224-78165224 17:80191425-80191425
43 CARD14 NM_001366385.1(CARD14):c.1192G>C (p.Glu398Gln)SNV Uncertain significance 656699 17:78165224-78165224 17:80191425-80191425
44 CARD14 NM_001366385.1(CARD14):c.1199G>A (p.Arg400His)SNV Uncertain significance 647550 17:78165231-78165231 17:80191432-80191432
45 CARD14 NM_001366385.1(CARD14):c.1232C>T (p.Pro411Leu)SNV Uncertain significance 640300 17:78165264-78165264 17:80191465-80191465
46 CARD14 NM_001366385.1(CARD14):c.1277G>A (p.Arg426Gln)SNV Uncertain significance 645230 17:78166339-78166339 17:80192540-80192540
47 CARD14 NM_001366385.1(CARD14):c.1342G>A (p.Val448Ile)SNV Uncertain significance 666104 17:78166404-78166404 17:80192605-80192605
48 CARD14 NM_001366385.1(CARD14):c.1447T>C (p.Ser483Pro)SNV Uncertain significance 659331 17:78169080-78169080 17:80195281-80195281
49 CARD14 NM_001366385.1(CARD14):c.1499G>C (p.Ser500Thr)SNV Uncertain significance 661130 17:78169132-78169132 17:80195333-80195333
50 CARD14 NM_001366385.1(CARD14):c.1588A>G (p.Thr530Ala)SNV Uncertain significance 659969 17:78169445-78169445 17:80195646-80195646

UniProtKB/Swiss-Prot genetic disease variations for Pityriasis Rubra Pilaris:

73
# Symbol AA change Variation ID SNP ID
1 CARD14 p.Gly117Ser VAR_068224 rs281875215
2 CARD14 p.Leu156Pro VAR_068820 rs387907240
3 CARD14 p.Cys127Ser VAR_078584
4 CARD14 p.Gln136Leu VAR_078585

Expression for Pityriasis Rubra Pilaris

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

Pathways for Pityriasis Rubra Pilaris

Pathways related to Pityriasis Rubra Pilaris according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.16 TNF PSTPIP1 IL17A CARD11
2 11.97 TNFRSF1B TNF IL17A CARD11
3
Show member pathways
11.97 TNFRSF1B TNF CARD14 CARD11 CARD10
4 11.49 TNFRSF1B TNF IL17A
5 10.94 TNF CARD14 CARD11 CARD10

GO Terms for Pityriasis Rubra Pilaris

Cellular components related to Pityriasis Rubra Pilaris according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 CBM complex GO:0032449 8.62 CARD11 CARD10

Biological processes related to Pityriasis Rubra Pilaris according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 tumor necrosis factor-mediated signaling pathway GO:0033209 9.54 TNFRSF1B TNF CARD14
2 positive regulation of cytokine production involved in inflammatory response GO:1900017 9.43 TNF IL17A
3 positive regulation of osteoclast differentiation GO:0045672 9.4 TNF IL17A
4 cytokine-mediated signaling pathway GO:0019221 9.35 TNFRSF1B TNF IL36RN IL1RL2 IL17A
5 activation of NF-kappaB-inducing kinase activity GO:0007250 9.32 CARD14 CARD10
6 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.26 TNFRSF1B TNF
7 positive regulation of interleukin-1 beta biosynthetic process GO:0050725 9.16 TNF IL17A
8 inflammatory response GO:0006954 9.1 TNFRSF1B TNF PSTPIP1 IL36RN IL1RL2 IL17A

Molecular functions related to Pityriasis Rubra Pilaris according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 CARD domain binding GO:0050700 8.8 CARD14 CARD11 CARD10

Sources for Pityriasis Rubra Pilaris

3 CDC
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11 DGIdb
17 EFO
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