PRP
MCID: PTY003
MIFTS: 57

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 57 12 74 20 58 73 36 29 13 6 44 15 39 71 32
Prp 57 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®:

57 (Updated 05-Mar-2021)
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
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:9212
OMIM® 57 173200
KEGG 36 H01659
ICD9CM 34 696.4
MeSH 44 D010916
NCIt 50 C85014
SNOMED-CT 67 3755001
ICD10 32 L44.0
MESH via Orphanet 45 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 NF-KappaB Family Pathway and T cell receptor signaling pathway. The drugs Dermatologic Agents and Immunosuppressive Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and thyroid, and related phenotypes are palmoplantar keratoderma and irregular hyperpigmentation

Disease Ontology : 12 A skin disease that is characterized by hyperkeratotic follicular papules coalescing into orange-red scaly plaques, islands of sparing, and palmoplantar keratoderma.

GARD : 20 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® : 57 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) (Updated 05-Mar-2021)

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 394)
# Related Disease Score Top Affiliating Genes
1 familial pityriasis rubra pilaris 33.3 NLRC5 DTX1 CARD14
2 pustular psoriasis 30.8 TNF IL36RN
3 pustulosis palmaris et plantaris 30.5 TNF IL36RN
4 skin disease 30.5 TNF IL36RN IL17A CARD14
5 psoriatic arthritis 30.4 TNF IL36RN IL17A CARD14
6 pustulosis of palm and sole 30.3 TNF PSTPIP1 LPIN2 IL36RN IL1RL2 IL17A
7 proteasome-associated autoinflammatory syndrome 1 29.8 TNF MVK IL17A
8 scrapie 11.1
9 prion disease 11.0
10 rapidly involuting congenital hemangioma 11.0
11 prp systemic amyloidosis 10.9
12 keratosis 10.9
13 encephalopathy 10.9
14 psoriasis 10.9
15 palmoplantar keratosis 10.9
16 creutzfeldt-jakob disease 10.8
17 exanthem 10.7
18 haemophilus influenzae 10.6
19 neuroblastoma 10.6
20 acne 10.5
21 vitiligo-associated multiple autoimmune disease susceptibility 6 10.5
22 vitiligo-associated multiple autoimmune disease susceptibility 1 10.5
23 dermatomyositis 10.5
24 chronic wasting disease 10.5
25 osteoarthritis 10.5
26 ectropion 10.5
27 ichthyosis 10.5
28 lupus erythematosus 10.5
29 lichen planus 10.5
30 alopecia 10.5
31 grover's disease 10.5
32 ataxia and polyneuropathy, adult-onset 10.4
33 dowling-degos disease 1 10.4
34 hypothyroidism 10.4
35 dermatitis 10.4
36 herpes simplex 10.4
37 actinic keratosis 10.4
38 pemphigus 10.4
39 diffuse palmoplantar keratoderma 10.4
40 tendinitis 10.4
41 tendinopathy 10.4
42 gerstmann-straussler disease 10.3
43 fatal familial insomnia 10.3
44 ainhum 10.3
45 epidermolytic hyperkeratosis 10.3
46 keratitis, hereditary 10.3
47 myositis 10.3
48 pemphigus vulgaris, familial 10.3
49 scleroderma, familial progressive 10.3
50 syringomyelia, noncommunicating isolated 10.3

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 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 palmoplantar keratoderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000982
2 irregular hyperpigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007400
3 papule 58 31 hallmark (90%) Very frequent (99-80%) HP:0200034
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 erythematous plaque 31 HP:0025474
18 keratosis pilaris 31 HP:0032152
19 hypergranulosis 31 HP:0025114
20 orthokeratosis 31 HP:0040162

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Pityriasis Rubra Pilaris:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.7 CARD11 CARD14 DTX1 IL17A IL1RL2 IL36RN
2 immune system MP:0005387 9.36 CARD11 CARD14 DTX1 IL17A IL1RL2 IL36RN

Drugs & Therapeutics for Pityriasis Rubra Pilaris

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Dermatologic Agents Phase 4
2 Immunosuppressive Agents Phase 4
3 Immunologic Factors Phase 4
4 Ixekizumab Approved, Investigational Phase 2 1143503-69-8
5 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 Ixekizumab in the Treatment of Pityriasis Rubra Pilaris (PRP) Completed NCT03485976 Phase 2 Ixekizumab
3 An Open Label Pilot Trial of Guselkumab in the Treatment of Adults With Pityriasis Rubra Pilaris (PRP) Recruiting NCT03975153 Phase 2
4 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, Liver, Thyroid, Bone, Colon, Lung, Prostate

Publications for Pityriasis Rubra Pilaris

Articles related to Pityriasis Rubra Pilaris:

(show top 50) (show all 745)
# Title Authors PMID Year
1
Familial pityriasis rubra pilaris is caused by mutations in CARD14. 6 57 61
22703878 2012
2
(Juvenile) Pityriasis rubra pilaris. 57 61
16650174 2006
3
Familial pityriasis rubra pilaris (adult classic-I): a report of three cases in a single family. 57 61
14673347 2002
4
Pityriasis rubra pilaris (PRP): report of four cases. 61 57
10774144 2000
5
Familial pityriasis rubra pilaris. 57 61
7726588 1995
6
Pityriasis rubra pilaris: the problem of its classification. 61 57
1732330 1992
7
Pityriasis rubra pilaris. Etiologic considerations. 61 57
6736336 1984
8
Pityriasis rubra pilaris, a familial condition. 57 61
4670284 1972
9
Pityriasis rubra pilaris in Korea. Treatment with methotrexate. 61 57
5371703 1969
10
Beneficial effect of ustekinumab in familial pityriasis rubra pilaris with a new missense mutation in CARD14. 20 61
28301045 2018
11
Pityriasis Rubra Pilaris Type V as an Autoinflammatory Disease by CARD14 Mutations. 61 20
27760266 2017
12
Response of pityriasis rubra pilaris to brodalumab after primary failure to ustekinumab. 61
33128453 2021
13
Paraneoplastic pityriasis rubra pilaris heralding onset of new hematologic malignancy. 61
32501564 2021
14
[Palmoplantar dermatoses in children]. 61
33580281 2021
15
Case for diagnosis. Atypical Grover's disease. 61
33589293 2021
16
Lichen-planopilaris-like scarring pattern in a patient with alopecia and pityriasis rubra pilaris. 61
32949041 2021
17
Identification of a pathogenic CARD14 mutation in a 70-year-old woman with pityriasis rubra pilaris: when genetic diagnosis influences choice of treatment strategy. 61
33431438 2021
18
Pityriasis Rubra Pilaris-Like Reaction Induced by a Tyrosine Kinase Inhibitor, the Ponatinib. 61
33264130 2020
19
Characterizing Disease Features and Other Medical Diagnoses in Patients With Pityriasis Rubra Pilaris. 61
32965475 2020
20
The beneficial effect of a PDE4 inhibitor in a patient with juvenile-onset intractable pityriasis rubra pilaris without CARD14 mutation. 61
33368948 2020
21
Pulsed dye laser as an adjunctive treatment for therapy-resistant pityriasis rubra pilaris. 61
32171814 2020
22
Acute Postinfection Pityriasis Rubra Pilaris: Excellent Response to Emollients and Topical Corticosteroids. 61
33307011 2020
23
Successful treatment of refractory extensive pityriasis rubra pilaris with risankizumab. 61
33274752 2020
24
Ponatinib-induced atypical pityriasis rubra pilaris-like rash. 61
33159027 2020
25
Erythrodermic pityriasis rubra pilaris treatment: Two case reports and literature review. 61
32820849 2020
26
Nilotinib-induced pityriasis rubra pilaris: First case report. 61
32720426 2020
27
CARD14-mutations in pityriasis rubra pilaris and therapeutic response to ustekinumab - a hypothesis. 61
32881385 2020
28
Flexural Circumscribed Juvenile Pityriasis Rubra Pilaris: An Unusual Presentation. 61
33487720 2020
29
CARD14-Mutationen bei Pityriasis rubra pilaris und das Therapieansprechen auf Ustekinumab - eine Hypothese. 61
33251726 2020
30
Secukinumab is an effective and safe treatment for refractory pityriasis rubra pilaris: a case report and literature review. 61
33179881 2020
31
Successful treatment of pityriasis rubra pilaris with guselkumab: Serum CCL20 as a potential marker for the disease activity. 61
33044038 2020
32
Secukinumab monotherapy successfully treated severe refractory type V (atypical juvenile) pityriasis rubra pilaris: A case report and literature review. 61
32725719 2020
33
Erythroderma: A clinicopathological study of 47 cases from 2018 to 2020. 61
32979015 2020
34
Topographic Differential Diagnosis of Chronic Plaque Psoriasis: Challenges and Tricks. 61
33171581 2020
35
Oral isotretinoin for the treatment of dermatologic conditions other than acne: a systematic review and discussion of future directions. 61
33151346 2020
36
Follicular Graft Vs Host Reaction: A Rare Presentation. 61
33344353 2020
37
Treatment of pityriasis rubra pilaris: a case series of 28 patients. 61
33021474 2020
38
The significance of dermoscopy and trichoscopy in differentiation of erythroderma due to various dermatological disorders. 61
33073390 2020
39
[Acitretin-induced capillary leak syndrome: Case report and literature review]. 61
32653219 2020
40
[Pityriasis rubra pilaris : Successful treatment with ixekizumab]. 61
32185430 2020
41
Familial pityriasis rubra pilaris successfully treated with brodalumab. 61
32202311 2020
42
Drugs Associated with Development of Pityriasis Rubra Pilaris: A Systematic Review. 61
32687965 2020
43
Successful treatment of resistant pityriasis rubra pilaris with ixekizumab. 61
32441433 2020
44
Influence of COVID-19 pandemic on hospitalizations at the tertiary dermatology department in south-west Poland. 61
32478949 2020
45
Follicular psoriasis: a report of 5 cases and review of the literature, likely an under-recognized yet distinctive variant of psoriasis. 61
32898397 2020
46
Erythroderma: a prospective study of 309 patients followed for 12 years in a tertiary center. 61
32555205 2020
47
Erythema gyratum repens-like eruption after anti-IL-17 therapy of pityriasis rubra pilaris. 61
32580240 2020
48
Evaluation of Ixekizumab Treatment for Patients With Pityriasis Rubra Pilaris: A Single-Arm Trial. 61
32293641 2020
49
The polymorphous spectrum of dermatomyositis: classic features, newly described skin lesions, and rare variants. 61
32666925 2020
50
Successful treatment of Pityriasis rubra pilaris with brodalumab. 61
31851372 2020

Variations for Pityriasis Rubra Pilaris

ClinVar genetic disease variations for 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

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
12.08 TNF CARD14 CARD11 CARD10
2
Show member pathways
11.8 TNF PSTPIP1 IL17A CARD11
3 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 immune system process GO:0002376 9.77 PSTPIP1 NLRC5 IL36RN IL1RL2 IL17A
2 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.63 TNF CARD14 CARD11
3 cytokine-mediated signaling pathway GO:0019221 9.56 TNF IL36RN IL1RL2 IL17A
4 innate immune response GO:0045087 9.55 PSTPIP1 NLRC5 IL36RN IL1RL2 IL17A
5 positive regulation of cytokine production involved in inflammatory response GO:1900017 9.43 TNF IL17A
6 positive regulation of osteoclast differentiation GO:0045672 9.4 TNF IL17A
7 activation of NF-kappaB-inducing kinase activity GO:0007250 9.32 CARD14 CARD10
8 positive regulation of interleukin-6 production GO:0032755 9.13 TNF IL1RL2 IL17A
9 inflammatory response GO:0006954 9.02 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
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
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
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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