PRP
MCID: PTY003
MIFTS: 52

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 58 12 77 54 60 76 38 30 13 6 45 15 41 74
Prp 58 76
Devergie's Disease 12

Characteristics:

Orphanet epidemiological data:

60
pityriasis rubra pilaris
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
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:

33
pityriasis rubra pilaris:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:9212
OMIM 58 173200
KEGG 38 H01659
ICD9CM 36 696.4
MeSH 45 D010916
NCIt 51 C85014
SNOMED-CT 69 3755001
ICD10 34 L44.0
MESH via Orphanet 46 D010916
ICD10 via Orphanet 35 L44.0
UMLS via Orphanet 75 C0032027
Orphanet 60 ORPHA2897
MedGen 43 C0032027
UMLS 74 C0032027

Summaries for Pityriasis Rubra Pilaris

NIH Rare Diseases : 54 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 Immunologic Factors and Dermatologic Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and brain, and related phenotypes are palmoplantar keratoderma and irregular hyperpigmentation

OMIM : 58 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 : 76 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 : 77 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 156)
# Related Disease Score Top Affiliating Genes
1 psoriasis 30.8 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 11.0
7 encephalopathy 10.7
8 prion disease 10.6
9 creutzfeldt-jakob disease 10.6
10 haemophilus influenzae 10.6
11 rapidly involuting congenital hemangioma 10.5
12 dermatomyositis 10.5
13 human immunodeficiency virus infectious disease 10.5
14 arthritis 10.4
15 ichthyosis 10.4
16 osteoarthritis 10.4
17 neuroblastoma 10.4
18 chronic wasting disease 10.4
19 ainhum 10.4
20 scleroderma, familial progressive 10.4
21 alopecia 10.4
22 hepatitis 10.4
23 autosomal recessive congenital ichthyosis 10.4
24 cicatricial ectropion 10.4
25 hypothyroidism 10.4
26 ectropion 10.4
27 syringomyelia 10.4
28 herpes simplex 10.4
29 lichen planus 10.4
30 genetic prion diseases 10.3
31 hepatitis b 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

Human phenotypes related to Pityriasis Rubra Pilaris:

60 33 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 palmoplantar keratoderma 60 33 hallmark (90%) Very frequent (99-80%) HP:0000982
2 irregular hyperpigmentation 60 33 hallmark (90%) Very frequent (99-80%) HP:0007400
3 papule 60 33 hallmark (90%) Very frequent (99-80%) HP:0200034
4 erythroderma 60 33 hallmark (90%) Very frequent (99-80%) HP:0001019
5 pruritus 60 33 frequent (33%) Frequent (79-30%) HP:0000989
6 subungual hyperkeratosis 60 33 frequent (33%) Frequent (79-30%) HP:0008392
7 ichthyosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0008064
8 neoplasm 60 33 occasional (7.5%) Occasional (29-5%) HP:0002664
9 eczema 60 33 occasional (7.5%) Occasional (29-5%) HP:0000964
10 lichenification 60 33 occasional (7.5%) Occasional (29-5%) HP:0100725
11 pustule 60 33 occasional (7.5%) Occasional (29-5%) HP:0200039
12 ectropion 33 occasional (7.5%) HP:0000656
13 abnormal oral cavity morphology 33 occasional (7.5%) HP:0000163
14 abnormality of the nail 60 Frequent (79-30%)
15 parakeratosis 33 HP:0001036
16 thickened skin 60 Frequent (79-30%)
17 abnormality of the oral cavity 60 Occasional (29-5%)
18 hypergranulosis 33 HP:0025114
19 orthokeratosis 33 HP:0040162

Symptoms via clinical synopsis from OMIM:

58
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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.35 BLMH IL1RL2 IL36RN SGSH TNFRSF1B
2 integument MP:0010771 9.02 BLMH IL1RL2 IL36RN 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 Immunologic Factors Phase 4,Phase 1
2 Dermatologic Agents Phase 4,Phase 2
3 Immunosuppressive Agents Phase 4
4 Ixekizumab Approved, Investigational Phase 2 1143503-69-8
5 Antibodies Phase 1
6 Antibodies, Monoclonal Phase 1
7 Immunoglobulins 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 30 CARD14

Anatomical Context for Pityriasis Rubra Pilaris

MalaCards organs/tissues related to Pityriasis Rubra Pilaris:

42
Skin, Bone, Brain, Bone Marrow, Testes, Endothelial, Whole Blood

Publications for Pityriasis Rubra Pilaris

Articles related to Pityriasis Rubra Pilaris:

(show top 50) (show all 1677)
# Title Authors Year
1
Bullous erythroderma: novel association of pityriasis rubra pilaris with bullous pemphigoid. ( 30129048 )
2019
2
Effect of nontypeable Haemophilus influenzae protein E (PE) as a microbial adjuvant on the amount of antibody against PRP of Haemophilus influenzae type b (Hib) in BALB/c mice. ( 30682526 )
2019
3
Single Injection of High Volume of Autologous Pure PRP Provides a Significant Improvement in Knee Osteoarthritis: A Prospective Routine Care Study. ( 30884774 )
2019
4
The use of stromal vascular fraction (SVF), platelet-rich plasma (PRP) and stem cells in the treatment of osteoarthritis: an overview of clinical trials. ( 30887856 )
2019
5
Improvising PRP for use in osteoarthritis knee- upcoming trends and futuristic view. ( 30705528 )
2019
6
The use of PRP injections in the management of knee osteoarthritis. ( 30758709 )
2019
7
The management and genetic background of pityriasis rubra pilaris: a single-center experience. ( 30697821 )
2019
8
Pityriasis Rubra Pilaris: A Study Evaluating Patient Quality of Life in Two Populations. ( 30710600 )
2019
9
Pityriasis Rubra Pilaris. ( 30725099 )
2019
10
Successful treatment of TNFα inhibitor-resistant pityriasis rubra pilaris with ixekizumab and acitretin. ( 30827945 )
2019
11
Encapsulation of bone marrow-MSCs in PRP-derived fibrin microbeads and preliminary evaluation in a volumetric muscle loss injury rat model: modular muscle tissue engineering. ( 30514127 )
2019
12
Fast and inexpensive production of "homemade" PRP: A simple method. ( 30528283 )
2019
13
Impact of incubation method on the release of growth factors in non-Ca2+-activated PRP, Ca2+-activated PRP, PRF and A-PRF. ( 30578012 )
2019
14
Evaluate the effects of platelet rich plasma (PRP) and zinc oxide ointment on skin wound healing. ( 30581567 )
2019
15
The Healing Effect of Platelet-rich Plasma (PRP) Jelly in Rabbits Undergoing Tracheal Resection and Anastomosis. ( 30587605 )
2019
16
Variables affecting the potential efficacy of PRP in providing chronic pain relief. ( 30613159 )
2019
17
Review: PrP 106-126 - 25 years after. ( 30635947 )
2019
18
Does non-activated platelet-rich plasma (PRP) enhance fat graft outcome? An assessment with 3D CT-scan in mice. ( 30658950 )
2019
19
Preparation of ADM/PRP freeze-dried dressing and effect of mice full-thickness skin defect model. ( 30665205 )
2019
20
Simvastatin With PRP Promotes Chondrogenesis of Bone Marrow Stem Cells In Vitro and Wounded Rat Achilles Tendon-Bone Interface Healing In Vivo. ( 30668918 )
2019
21
A report on three live births in women with poor ovarian response following intra-ovarian injection of platelet-rich plasma (PRP). ( 30725347 )
2019
22
Randomised trial of wide-field guided PRP for diabetic macular oedema treated with ranibizumab. ( 30728488 )
2019
23
Selectively activated PRP exerts differential effects on tendon stem/progenitor cells and tendon healing. ( 30728936 )
2019
24
Comparative study of different anticoagulants and coagulants in the evaluation of clinical application of platelet-rich plasma (PRP) standardization. ( 30729369 )
2019
25
In vitro and in vivo evaluation of new PRP antibacterial moisturizing dressings for infectious wound repair. ( 30755095 )
2019
26
Tissue Engineered Neural Constructs Composed of Neural Precursor Cells, Recombinant Spidroin and PRP for Neural Tissue Regeneration. ( 30816182 )
2019
27
Needle tenotomy with PRP versus lidocaine in epicondylopathy: clinical and ultrasonographic outcomes over twenty months. ( 30826853 )
2019
28
Allergic reaction to platelet-rich plasma (PRP): Case report. ( 30855461 )
2019
29
A combination of indomethacin and atorvastatin ameliorates cognitive and pathological deterioration in PrP-hAβPPswe/PS1ΔE9 transgenic mice. ( 30870684 )
2019
30
Autologous Platelet-Rich Plasma (CuteCellTM PRP) Safely Boosts In Vitro Human Fibroblast Expansion. ( 30896295 )
2019
31
Platelet-rich plasma (PRP) and tendon healing: comparison between fresh and frozen-thawed PRP. ( 30915890 )
2019
32
Erythrodermic pityriasis rubra pilaris managed at home: intensive community care followed by ustekinumab. ( 29779249 )
2018
33
A Review on Pityriasis Rubra Pilaris. ( 29302927 )
2018
34
Immune-regulatory genes as possible modifiers of familial pityriasis rubra pilaris - Lessons from a family with PRP and psoriasis. ( 29704870 )
2018
35
Pityriasis rubra pilaris: a rare inflammatory dermatosis. ( 29440245 )
2018
36
Recalcitrant psoriasiform dermatosis of the face: Is it related to pityriasis rubra pilaris? ( 29604103 )
2018
37
A case of severe pityriasis rubra pilaris with a dramatic response to apremilast. ( 29400288 )
2018
38
CARD14-associated papulosquamous eruption: A spectrum including features of psoriasis and pityriasis rubra pilaris. ( 29477734 )
2018
39
Successful Treatment of Pityriasis Rubra Pilaris with Ixekizumab. ( 29867429 )
2018
40
Successful Treatment of Refractory Type 1 Pityriasis Rubra Pilaris With Apremilast. ( 29309244 )
2018
41
A case of juvenile pityriasis rubra pilaris type III successfully treated with etanercept. ( 29193567 )
2018
42
Pityriasis rubra pilaris-like erythroderma secondary to phosphoinositide 3-kinase inhibition. ( 29851132 )
2018
43
Case of pityriasis rubra pilaris with focal acantholytic dyskeratosis. ( 29512184 )
2018
44
Juvenile pityriasis rubra pilaris: successful treatment with methotrexate. ( 29072324 )
2018
45
Pityriasis Rubra Pilaris ( 29494043 )
2018
46
Successful treatment of juvenile pityriasis rubra pilaris with ustekinumab in a 7-year-old girl. ( 29892668 )
2018
47
Methotrexate Treatment for Pityriasis Rubra Pilaris: A Case Series and Literature Review. ( 29335741 )
2018
48
Refractory pityriasis rubra pilaris with good response after treatment with ustekinumab. ( 29947473 )
2018
49
Type I pityriasis rubra pilaris treated with tumor necrosis factor inhibitors, ustekinumab, or secukinumab: a systematic review. ( 29518460 )
2018
50
Biologics for pityriasis rubra pilaris treatment: A review of the literature. ( 29609014 )
2018

Variations for Pityriasis Rubra Pilaris

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

76
# 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 CARD14, IVS3DS, G-A, +1 single nucleotide variant Pathogenic
2 CARD14 NM_024110.4(CARD14): c.467T> C (p.Leu156Pro) single nucleotide variant Pathogenic rs387907240 GRCh37 Chromosome 17, 78157829: 78157829
3 CARD14 NM_024110.4(CARD14): c.467T> C (p.Leu156Pro) single nucleotide variant Pathogenic rs387907240 GRCh38 Chromosome 17, 80184030: 80184030
4 CARD14 CARD14, 3-BP DEL, 412GAG deletion 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 GRCh38 Chromosome 17, 80195205: 80195205
28 CARD14 NM_024110.4(CARD14): c.1371G> A (p.Ser457=) single nucleotide variant Benign rs62074378 GRCh37 Chromosome 17, 78169004: 78169004
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 cellular response to lipopolysaccharide GO:0071222 9.32 IL36RN TNFRSF1B
2 tumor necrosis factor-mediated signaling pathway GO:0033209 9.26 CARD14 TNFRSF1B
3 positive regulation of interleukin-6 production GO:0032755 9.16 IL1RL2 IL36RN
4 inflammatory response GO:0006954 9.13 IL1RL2 IL36RN TNFRSF1B
5 cytokine-mediated signaling pathway GO:0019221 8.8 IL1RL2 IL36RN TNFRSF1B

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