PRP
MCID: PTY003
MIFTS: 50

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 76 53 59 75 37 29 13 6 44 15 40 73
Prp 57 75
Devergie's Disease 12

Characteristics:

Orphanet epidemiological data:

59
pityriasis rubra pilaris
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
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:

32
pityriasis rubra pilaris:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 173200
Disease Ontology 12 DOID:9212
ICD10 33 L44.0
ICD9CM 35 696.4
MeSH 44 D010916
NCIt 50 C85014
SNOMED-CT 68 3755001
Orphanet 59 ORPHA2897
MESH via Orphanet 45 D010916
UMLS via Orphanet 74 C0032027
ICD10 via Orphanet 34 L44.0
MedGen 42 C0032027
KEGG 37 H01659
UMLS 73 C0032027

Summaries for Pityriasis Rubra Pilaris

NIH Rare Diseases : 53 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.

MalaCards based summary : Pityriasis Rubra Pilaris, also known as prp, is related to psoriasis and pustulosis of palm and sole. An important gene associated with Pityriasis Rubra Pilaris is CARD14 (Caspase Recruitment Domain Family Member 14). The drugs Dermatologic Agents and Immunosuppressive Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and brain, and related phenotypes are ichthyosis and palmoplantar keratoderma

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)

UniProtKB/Swiss-Prot : 75 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 : 76 Pityriasis rubra pilaris (also known as "Devergie''s disease," "Lichen ruber acuminatus," and "Lichen... 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 144)
# Related Disease Score Top Affiliating Genes
1 psoriasis 30.7 TNFRSF1B IL36RN CDSN CARD14
2 pustulosis of palm and sole 30.3 TNFRSF1B IL36RN
3 familial pityriasis rubra pilaris 12.9
4 prp systemic amyloidosis 12.1
5 phosphoribosylpyrophosphate synthetase superactivity 11.4
6 scrapie 10.8
7 prion disease 10.6
8 encephalopathy 10.6
9 viral infectious disease 10.5
10 creutzfeldt-jakob disease 10.5
11 dermatomyositis 10.5
12 human immunodeficiency virus infectious disease 10.5
13 arthritis 10.4
14 ichthyosis 10.4
15 osteoarthritis 10.4
16 chronic wasting disease 10.4
17 genetic prion diseases 10.3
18 ainhum 10.3
19 scleroderma, familial progressive 10.3
20 alopecia 10.3
21 hepatitis 10.3
22 autosomal recessive congenital ichthyosis 10.3
23 cicatricial ectropion 10.3
24 hypothyroidism 10.3
25 ectropion 10.3
26 syringomyelia 10.3
27 herpes simplex 10.3
28 lichen planus 10.3
29 rapidly involuting congenital hemangioma 10.3
30 neuroblastoma 10.2
31 haemophilus influenzae 10.2
32 epidermolytic hyperkeratosis 10.2
33 hepatocellular carcinoma 10.2
34 darier-white disease 10.2
35 renal cell carcinoma, nonpapillary 10.2
36 osteoporosis 10.2
37 pemphigus vulgaris, familial 10.2
38 rheumatoid arthritis 10.2
39 down syndrome 10.2
40 alopecia universalis congenita 10.2
41 myasthenia gravis 10.2
42 basal cell carcinoma 1 10.2
43 kawasaki disease 10.2
44 graft-versus-host disease 10.2
45 membranous nephropathy 10.2
46 follicular lymphoma 10.2
47 glomerulonephritis 10.2
48 leukemia 10.2
49 pemphigus vulgaris 10.2
50 cutaneous lupus erythematosus 10.2

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



Diseases related to Pityriasis Rubra Pilaris

Symptoms & Phenotypes for Pityriasis Rubra Pilaris

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Pityriasis Rubra Pilaris:

59 32 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ichthyosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0008064
2 palmoplantar keratoderma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000982
3 neoplasm 59 32 occasional (7.5%) Occasional (29-5%) HP:0002664
4 pruritus 59 32 frequent (33%) Frequent (79-30%) HP:0000989
5 irregular hyperpigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007400
6 eczema 59 32 occasional (7.5%) Occasional (29-5%) HP:0000964
7 papule 59 32 hallmark (90%) Very frequent (99-80%) HP:0200034
8 erythroderma 59 32 hallmark (90%) Very frequent (99-80%) HP:0001019
9 lichenification 59 32 occasional (7.5%) Occasional (29-5%) HP:0100725
10 pustule 59 32 occasional (7.5%) Occasional (29-5%) HP:0200039
11 subungual hyperkeratosis 59 32 frequent (33%) Frequent (79-30%) HP:0008392
12 abnormality of the nail 59 Frequent (79-30%)
13 parakeratosis 32 HP:0001036
14 thickened skin 59 Frequent (79-30%)
15 ectropion 32 occasional (7.5%) HP:0000656
16 abnormality of the oral cavity 59 Occasional (29-5%)
17 hypergranulosis 32 HP:0025114
18 orthokeratosis 32 HP:0040162
19 abnormal oral cavity morphology 32 occasional (7.5%) HP:0000163

MGI Mouse Phenotypes related to Pityriasis Rubra Pilaris:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.02 ATP2A2 IL36RN NIPAL4 SGSH TNFRSF1B

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 Dermatologic Agents Phase 4,Phase 2
2 Immunosuppressive Agents Phase 4
3 Ixekizumab Approved, Investigational Phase 2 1143503-69-8
4 Antibodies Phase 1
5 Immunologic Factors Phase 1
6 Immunoglobulins Phase 1
7 Antibodies, Monoclonal Phase 1

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) Recruiting NCT03485976 Phase 2 Ixekizumab
3 Cosentyx (Secukinumab) for the Treatment of Adult Onset Pityriasis Rubra Pilaris Recruiting 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:

41
Skin, Bone, Brain, Thyroid, Liver, Colon, Spinal Cord

Publications for Pityriasis Rubra Pilaris

Articles related to Pityriasis Rubra Pilaris:

(show top 50) (show all 1168)
# Title Authors Year
1
Bullous erythroderma: novel association of pityriasis rubra pilaris with bullous pemphigoid. ( 30129048 )
2019
2
Erythrodermic pityriasis rubra pilaris managed at home: intensive community care followed by ustekinumab. ( 29779249 )
2018
3
A Review on Pityriasis Rubra Pilaris. ( 29302927 )
2018
4
Immune-regulatory genes as possible modifiers of familial pityriasis rubra pilaris - Lessons from a family with PRP and psoriasis. ( 29704870 )
2018
5
Pityriasis rubra pilaris: a rare inflammatory dermatosis. ( 29440245 )
2018
6
Recalcitrant psoriasiform dermatosis of the face: Is it related to pityriasis rubra pilaris? ( 29604103 )
2018
7
A case of severe pityriasis rubra pilaris with a dramatic response to apremilast. ( 29400288 )
2018
8
CARD14-associated papulosquamous eruption: A spectrum including features of psoriasis and pityriasis rubra pilaris. ( 29477734 )
2018
9
Successful Treatment of Pityriasis Rubra Pilaris with Ixekizumab. ( 29867429 )
2018
10
Successful Treatment of Refractory Type 1 Pityriasis Rubra Pilaris With Apremilast. ( 29309244 )
2018
11
A case of juvenile pityriasis rubra pilaris type III successfully treated with etanercept. ( 29193567 )
2018
12
Pityriasis rubra pilaris-like erythroderma secondary to phosphoinositide 3-kinase inhibition. ( 29851132 )
2018
13
Case of pityriasis rubra pilaris with focal acantholytic dyskeratosis. ( 29512184 )
2018
14
Juvenile pityriasis rubra pilaris: successful treatment with methotrexate. ( 29072324 )
2018
15
Pityriasis Rubra Pilaris ( 29494043 )
2018
16
Successful treatment of juvenile pityriasis rubra pilaris with ustekinumab in a 7-year-old girl. ( 29892668 )
2018
17
Methotrexate Treatment for Pityriasis Rubra Pilaris: A Case Series and Literature Review. ( 29335741 )
2018
18
Refractory pityriasis rubra pilaris with good response after treatment with ustekinumab. ( 29947473 )
2018
19
Type I pityriasis rubra pilaris treated with tumor necrosis factor inhibitors, ustekinumab, or secukinumab: a systematic review. ( 29518460 )
2018
20
Biologics for pityriasis rubra pilaris treatment: A review of the literature. ( 29609014 )
2018
21
Rapid response to cyclosporine in a rare case of pityriasis rubra pilaris with autoantibodies and systemic symptoms. ( 29417801 )
2018
22
Methotrexate treatment in a case of juvenile pityriasis rubra pilaris. ( 29044698 )
2018
23
Secukinumab emerges as a rapidly effective therapy for pityriasis rubra pilaris. ( 29894526 )
2018
24
A Case of Pityriasis Rubra Pilaris Treated Successfully with the Phosphodiesterase-4 Inhibitor Apremilast. ( 29944172 )
2018
25
Serum sickness disease in a patient with alopecia areata and Meniere' disease after PRP procedure. ( 30511475 )
2018
26
Randomized controlled trial on a PRP-like cosmetic, biomimetic peptides based, for the treatment of Alopecia Areata. ( 30513014 )
2018
27
Systematic review of platelet-rich plasma (PRP) preparation and composition for the treatment of androgenetic alopecia. ( 29790267 )
2018
28
Introducing Platelet-Rich Stroma: Platelet-Rich Plasma (PRP) and Stromal Vascular Fraction (SVF) Combined for the Treatment of Androgenetic Alopecia. ( 29554209 )
2018
29
Effects of intravesical therapy with platelet-rich plasma (PRP) and Bacillus Calmette-Guérin (BCG) in non-muscle invasive bladder cancer. ( 29857824 )
2018
30
Recombinant prion protein vaccination of transgenic elk PrP mice and reindeer overcomes self-tolerance and protects mice against chronic wasting disease. ( 30397182 )
2018
31
Evaluation of genotyping methods and costs for IL1α polymorphisms in Platelet Rich-Plasma (PRP); viewpoint for therapy on the diabetic foot ulcers. ( 29461582 )
2018
32
Comparative assessment of prophylactic transfusions of platelet concentrates obtained by the PRP or buffy-coat methods, in patients undergoing allogeneic hematopoietic stem cell transplantation. ( 29582705 )
2018
33
Platelet-Rich Plasma (PRP) Rinses for the Treatment of Non-Responding Oral Lichen Planus: A Case Report. ( 29724987 )
2018
34
The use of PRP (platelet-rich plasma) in patients affected by genital lichen sclerosus: clinical analysis and results. ( 30051614 )
2018
35
Clinical Update: Why PRP Should Be Your First Choice for Injection Therapy in Treating Osteoarthritis of the Knee. ( 30350299 )
2018
36
Pityriasis Rubra Pilaris With Extensive Follicular Acantholysis Resembling Pemphigus Vulgaris: A Case Report. ( 30045068 )
2018
37
Ustekinumab treatment of pityriasis rubra pilaris: A report of five cases. ( 29080273 )
2018
38
Recurrent Pityriasis Rubra Pilaris: A Case Report. ( 29754526 )
2018
39
Secukinumab in pityriasis rubra pilaris: A case series demonstrating variable response and the need for minimal clinical datasets. ( 29984296 )
2018
40
Nuclear Factor κB Activation in a Type V Pityriasis Rubra Pilaris Patient Harboring Multiple CARD14 Variants. ( 30018619 )
2018
41
Pityriasis rubra pilaris-like erythroderma in the setting of pembrolizumab therapy responsive to acitretin. ( 30112450 )
2018
42
Therapierefraktäre Pityriasis rubra pilaris mit gutem Ansprechen auf Ustekinumab. ( 30117694 )
2018
43
Successful treatment of erythrodermic pityriasis rubra pilaris with acitretin. ( 30230135 )
2018
44
Successful treatment of type I pityriasis rubra pilaris with ixekizumab. ( 30246123 )
2018
45
Transformation from pityriasis rubra pilaris to erythema gyratum repens-like eruption without associated malignancy: A report of 2 cases. ( 30345340 )
2018
46
Differentiation of pityriasis rubra pilaris from plaque psoriasis by dermoscopy. ( 30479860 )
2018
47
Atypical Adult-Onset Pityriasis Rubra Pilaris in an HIV-Positive Adult Male. ( 30504987 )
2018
48
Dermoscopy of Juvenile Circumscribed Pityriasis Rubra Pilaris. ( 30505800 )
2018
49
Case of pityriasis rubra pilaris progressed to generalized erythroderma following blockade of interleukin-17A, but improved after blockade of interleukin-12/23 p40. ( 30506728 )
2018
50
Systemic therapies of pityriasis rubra pilaris: a systematic review. ( 30520557 )
2018

Variations for Pityriasis Rubra Pilaris

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

75
# 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

ClinVar genetic disease variations for Pityriasis Rubra Pilaris:

6 (show top 50) (show all 184)
# Gene Variation Type Significance SNP ID Assembly Location
1 CARD14 NM_024110.4(CARD14): c.467T> C (p.Leu156Pro) single nucleotide variant Pathogenic rs387907240 GRCh37 Chromosome 17, 78157829: 78157829
2 CARD14 NM_024110.4(CARD14): c.467T> C (p.Leu156Pro) single nucleotide variant Pathogenic rs387907240 GRCh38 Chromosome 17, 80184030: 80184030
3 CARD14 CARD14, 3-BP DEL, 412GAG deletion Pathogenic
4 CARD14 CARD14, IVS3DS, G-A, +1 single nucleotide variant Pathogenic
5 CARD14 NM_024110.4(CARD14): c.1778T> A (p.Ile593Asn) single nucleotide variant Uncertain significance rs281875220 GRCh37 Chromosome 17, 78172317: 78172317
6 CARD14 NM_024110.4(CARD14): c.1778T> A (p.Ile593Asn) single nucleotide variant Uncertain significance rs281875220 GRCh38 Chromosome 17, 80198518: 80198518
7 CARD14 NM_024110.4(CARD14): c.185G> A (p.Arg62Gln) single nucleotide variant Benign rs115582620 GRCh37 Chromosome 17, 78155422: 78155422
8 CARD14 NM_024110.4(CARD14): c.185G> A (p.Arg62Gln) single nucleotide variant Benign rs115582620 GRCh38 Chromosome 17, 80181623: 80181623
9 CARD14 NM_024110.4(CARD14): c.2044C> T (p.Arg682Trp) single nucleotide variant Benign rs117918077 GRCh37 Chromosome 17, 78176044: 78176044
10 CARD14 NM_024110.4(CARD14): c.2044C> T (p.Arg682Trp) single nucleotide variant Benign rs117918077 GRCh38 Chromosome 17, 80202245: 80202245
11 CARD14 NM_024110.4(CARD14): c.2919C> G (p.Asp973Glu) single nucleotide variant Benign rs144285237 GRCh37 Chromosome 17, 78182048: 78182048
12 CARD14 NM_024110.4(CARD14): c.2919C> G (p.Asp973Glu) single nucleotide variant Benign rs144285237 GRCh38 Chromosome 17, 80208249: 80208249
13 CARD14 NM_024110.4(CARD14): c.449T> G (p.Leu150Arg) single nucleotide variant Likely benign rs146214639 GRCh37 Chromosome 17, 78157811: 78157811
14 CARD14 NM_024110.4(CARD14): c.449T> G (p.Leu150Arg) single nucleotide variant Likely benign rs146214639 GRCh38 Chromosome 17, 80184012: 80184012
15 CARD14 NM_024110.4(CARD14): c.536G> A (p.Arg179His) single nucleotide variant Uncertain significance rs199517469 GRCh37 Chromosome 17, 78157898: 78157898
16 CARD14 NM_024110.4(CARD14): c.536G> A (p.Arg179His) single nucleotide variant Uncertain significance rs199517469 GRCh38 Chromosome 17, 80184099: 80184099
17 CARD14 NM_024110.4(CARD14): c.599G> A (p.Ser200Asn) single nucleotide variant Likely benign rs114688446 GRCh37 Chromosome 17, 78157961: 78157961
18 CARD14 NM_024110.4(CARD14): c.599G> A (p.Ser200Asn) single nucleotide variant Likely benign rs114688446 GRCh38 Chromosome 17, 80184162: 80184162
19 CARD14 NM_024110.4(CARD14): c.589G> A (p.Glu197Lys) single nucleotide variant Uncertain significance rs200790561 GRCh37 Chromosome 17, 78157951: 78157951
20 CARD14 NM_024110.4(CARD14): c.589G> A (p.Glu197Lys) single nucleotide variant Uncertain significance rs200790561 GRCh38 Chromosome 17, 80184152: 80184152
21 CARD14 NM_024110.4(CARD14): c.881C> T (p.Ala294Val) single nucleotide variant Uncertain significance rs139466192 GRCh37 Chromosome 17, 78163589: 78163589
22 CARD14 NM_024110.4(CARD14): c.881C> T (p.Ala294Val) single nucleotide variant Uncertain significance rs139466192 GRCh38 Chromosome 17, 80189790: 80189790
23 CARD14 NM_024110.4(CARD14): c.299A> G (p.Tyr100Cys) single nucleotide variant Uncertain significance rs552779505 GRCh37 Chromosome 17, 78156539: 78156539
24 CARD14 NM_024110.4(CARD14): c.299A> G (p.Tyr100Cys) single nucleotide variant Uncertain significance rs552779505 GRCh38 Chromosome 17, 80182740: 80182740
25 CARD14 NM_024110.4(CARD14): c.960G> A (p.Glu320=) single nucleotide variant Benign rs144207494 GRCh37 Chromosome 17, 78163668: 78163668
26 CARD14 NM_024110.4(CARD14): c.960G> A (p.Glu320=) single nucleotide variant Benign rs144207494 GRCh38 Chromosome 17, 80189869: 80189869
27 CARD14 NM_024110.4(CARD14): c.1371G> A (p.Ser457=) single nucleotide variant Benign rs62074378 GRCh37 Chromosome 17, 78169004: 78169004
28 CARD14 NM_024110.4(CARD14): c.1371G> A (p.Ser457=) single nucleotide variant Benign rs62074378 GRCh38 Chromosome 17, 80195205: 80195205
29 CARD14 NM_024110.4(CARD14): c.1789C> T (p.Arg597Trp) single nucleotide variant Benign rs73429414 GRCh37 Chromosome 17, 78172328: 78172328
30 CARD14 NM_024110.4(CARD14): c.1789C> T (p.Arg597Trp) single nucleotide variant Benign rs73429414 GRCh38 Chromosome 17, 80198529: 80198529
31 CARD14 NM_024110.4(CARD14): c.2859G> A (p.Ala953=) single nucleotide variant Benign rs139969019 GRCh37 Chromosome 17, 78181988: 78181988
32 CARD14 NM_024110.4(CARD14): c.2859G> A (p.Ala953=) single nucleotide variant Benign rs139969019 GRCh38 Chromosome 17, 80208189: 80208189
33 CARD14 NM_024110.4(CARD14): c.556G> A (p.Ala186Thr) single nucleotide variant Uncertain significance rs190213582 GRCh38 Chromosome 17, 80184119: 80184119
34 CARD14 NM_024110.4(CARD14): c.556G> A (p.Ala186Thr) single nucleotide variant Uncertain significance rs190213582 GRCh37 Chromosome 17, 78157918: 78157918
35 CARD14 NM_024110.4(CARD14): c.709A> C (p.Asn237His) single nucleotide variant Benign rs114218658 GRCh38 Chromosome 17, 80188410: 80188410
36 CARD14 NM_024110.4(CARD14): c.709A> C (p.Asn237His) single nucleotide variant Benign rs114218658 GRCh37 Chromosome 17, 78162209: 78162209
37 CARD14 NM_024110.4(CARD14): c.2191G> A (p.Ala731Thr) single nucleotide variant Uncertain significance rs537086902 GRCh38 Chromosome 17, 80202392: 80202392
38 CARD14 NM_024110.4(CARD14): c.2191G> A (p.Ala731Thr) single nucleotide variant Uncertain significance rs537086902 GRCh37 Chromosome 17, 78176191: 78176191
39 CARD14 NM_024110.4(CARD14): c.2193G> A (p.Ala731=) single nucleotide variant Benign rs35692270 GRCh38 Chromosome 17, 80202394: 80202394
40 CARD14 NM_024110.4(CARD14): c.2193G> A (p.Ala731=) single nucleotide variant Benign rs35692270 GRCh37 Chromosome 17, 78176193: 78176193
41 CARD14 NM_024110.4(CARD14): c.2772C> T (p.His924=) single nucleotide variant Benign rs146356100 GRCh38 Chromosome 17, 80207050: 80207050
42 CARD14 NM_024110.4(CARD14): c.2772C> T (p.His924=) single nucleotide variant Benign rs146356100 GRCh37 Chromosome 17, 78180849: 78180849
43 CARD14 NM_024110.4(CARD14): c.203T> C (p.Met68Thr) single nucleotide variant Uncertain significance rs773633754 GRCh38 Chromosome 17, 80181641: 80181641
44 CARD14 NM_024110.4(CARD14): c.203T> C (p.Met68Thr) single nucleotide variant Uncertain significance rs773633754 GRCh37 Chromosome 17, 78155440: 78155440
45 CARD14 NM_024110.4(CARD14): c.378G> A (p.Glu126=) single nucleotide variant Benign rs138552007 GRCh38 Chromosome 17, 80183941: 80183941
46 CARD14 NM_024110.4(CARD14): c.378G> A (p.Glu126=) single nucleotide variant Benign rs138552007 GRCh37 Chromosome 17, 78157740: 78157740
47 CARD14 NM_024110.4(CARD14): c.599G> T (p.Ser200Ile) single nucleotide variant Benign rs114688446 GRCh38 Chromosome 17, 80184162: 80184162
48 CARD14 NM_024110.4(CARD14): c.599G> T (p.Ser200Ile) single nucleotide variant Benign rs114688446 GRCh37 Chromosome 17, 78157961: 78157961
49 CARD14 NM_024110.4(CARD14): c.931C> A (p.Arg311=) single nucleotide variant Benign rs145167842 GRCh38 Chromosome 17, 80189840: 80189840
50 CARD14 NM_024110.4(CARD14): c.931C> A (p.Arg311=) single nucleotide variant Benign rs145167842 GRCh37 Chromosome 17, 78163639: 78163639

Expression for Pityriasis Rubra Pilaris

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

Pathways for Pityriasis Rubra Pilaris

GO Terms for Pityriasis Rubra Pilaris

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

# Name GO ID Score Top Affiliating Genes
1 epidermis development GO:0008544 8.96 ATP2A2 CDSN
2 tumor necrosis factor-mediated signaling pathway GO:0033209 8.62 CARD14 TNFRSF1B

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