MCID: PTY003
MIFTS: 50

Pityriasis Rubra Pilaris

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 familial pityriasis rubra pilaris. 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, thyroid and liver, 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... 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 74)
# Related Disease Score Top Affiliating Genes
1 psoriasis 29.8 CARD14 IL36RN TNFRSF1B
2 familial pityriasis rubra pilaris 12.7
3 prp systemic amyloidosis 11.9
4 type i 10.5
5 dermatomyositis 10.3
6 arthritis 10.3
7 ichthyosis 10.3
8 thyroiditis 10.3
9 ainhum 10.2
10 scleroderma, familial progressive 10.2
11 alopecia 10.2
12 hepatitis 10.2
13 cicatricial ectropion 10.2
14 hypothyroidism 10.2
15 ectropion 10.2
16 congenital ichthyosiform erythroderma 10.2
17 squamous cell carcinoma 10.2
18 syringomyelia 10.2
19 herpes simplex 10.2
20 lichen planus 10.2
21 pustular psoriasis 10.1 CARD14 IL36RN
22 epidermolytic hyperkeratosis 10.0
23 hepatocellular carcinoma 10.0
24 darier-white disease 10.0
25 renal cell carcinoma, nonpapillary 10.0
26 osteoporosis 10.0
27 rheumatoid arthritis 10.0
28 down syndrome 10.0
29 alopecia universalis congenita 10.0
30 myasthenia gravis 10.0
31 aging 10.0
32 basal cell carcinoma 1 10.0
33 kawasaki disease 10.0
34 graft-versus-host disease 10.0
35 membranous nephropathy 10.0
36 tendinitis 10.0
37 follicular lymphoma 10.0
38 glomerulonephritis 10.0
39 leukemia 10.0
40 cutaneous lupus erythematosus 10.0
41 immunoglobulin alpha deficiency 10.0
42 lymphoma 10.0
43 pertussis 10.0
44 hypoparathyroidism 10.0
45 tetanus 10.0
46 diphtheria 10.0
47 hepatitis a 10.0
48 keratosis 10.0
49 hepatitis c 10.0
50 viral hepatitis 10.0

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 17)
# 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 thickened skin 59 Frequent (79-30%)
14 ectropion 32 occasional (7.5%) HP:0000656
15 abnormality of the skin 32 HP:0000951
16 abnormality of the oral cavity 59 Occasional (29-5%)
17 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 cardiovascular system MP:0005385 9.72 ATP2A2 BLMH IL36RN SGSH TNFRSF1B
2 hematopoietic system MP:0005397 9.65 ATP2A2 IL1RL2 IL36RN SGSH TNFRSF1B
3 homeostasis/metabolism MP:0005376 9.63 ATP2A2 BLMH IL1RL2 IL36RN SGSH TNFRSF1B
4 immune system MP:0005387 9.43 ATP2A2 BLMH IL1RL2 IL36RN SGSH TNFRSF1B
5 integument MP:0010771 9.1 ATP2A2 BLMH IL1RL2 IL36RN SGSH TNFRSF1B

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 Antibodies Phase 1
4 Antibodies, Monoclonal Phase 1
5 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 29 CARD14

Anatomical Context for Pityriasis Rubra Pilaris

MalaCards organs/tissues related to Pityriasis Rubra Pilaris:

41
Skin, Thyroid, Liver, Lung, Colon, Testes, T Cells

Publications for Pityriasis Rubra Pilaris

Articles related to Pityriasis Rubra Pilaris:

(show top 50) (show all 437)
# Title Authors Year
1
Erythrodermic pityriasis rubra pilaris managed at home: intensive community care followed by ustekinumab. ( 29779249 )
2018
2
A Review on Pityriasis Rubra Pilaris. ( 29302927 )
2018
3
Immune-regulatory genes as possible modifiers of familial pityriasis rubra pilaris - Lessons from a family with PRP and psoriasis. ( 29704870 )
2018
4
Pityriasis rubra pilaris: a rare inflammatory dermatosis. ( 29440245 )
2018
5
Recalcitrant psoriasiform dermatosis of the face: Is it related to pityriasis rubra pilaris? ( 29604103 )
2018
6
A case of severe pityriasis rubra pilaris with a dramatic response to apremilast. ( 29400288 )
2018
7
CARD14-associated papulosquamous eruption: A spectrum including features of psoriasis and pityriasis rubra pilaris. ( 29477734 )
2018
8
Successful Treatment of Pityriasis Rubra Pilaris with Ixekizumab. ( 29867429 )
2018
9
Successful Treatment of Refractory Type 1 Pityriasis Rubra Pilaris With Apremilast. ( 29309244 )
2018
10
A case of juvenile pityriasis rubra pilaris type III successfully treated with etanercept. ( 29193567 )
2018
11
Pityriasis rubra pilaris-like erythroderma secondary to phosphoinositide 3-kinase inhibition. ( 29851132 )
2018
12
Case of pityriasis rubra pilaris with focal acantholytic dyskeratosis. ( 29512184 )
2018
13
Juvenile pityriasis rubra pilaris: successful treatment with methotrexate. ( 29072324 )
2018
14
Pityriasis Rubra Pilaris ( 29494043 )
2018
15
Successful treatment of juvenile pityriasis rubra pilaris with ustekinumab in a 7-year-old girl. ( 29892668 )
2018
16
Methotrexate Treatment for Pityriasis Rubra Pilaris: A Case Series and Literature Review. ( 29335741 )
2018
17
Refractory pityriasis rubra pilaris with good response after treatment with ustekinumab. ( 29947473 )
2018
18
Type I pityriasis rubra pilaris treated with tumor necrosis factor inhibitors, ustekinumab, or secukinumab: a systematic review. ( 29518460 )
2018
19
Biologics for pityriasis rubra pilaris treatment: A review of the literature. ( 29609014 )
2018
20
Rapid response to cyclosporine in a rare case of pityriasis rubra pilaris with autoantibodies and systemic symptoms. ( 29417801 )
2018
21
Methotrexate treatment in a case of juvenile pityriasis rubra pilaris. ( 29044698 )
2018
22
Secukinumab emerges as a rapidly effective therapy for pityriasis rubra pilaris. ( 29894526 )
2018
23
A Case of Pityriasis Rubra Pilaris Treated Successfully with the Phosphodiesterase-4 Inhibitor Apremilast. ( 29944172 )
2018
24
Ustekinumab treatment of pityriasis rubra pilaris: A report of five cases. ( 29080273 )
2018
25
Recurrent Pityriasis Rubra Pilaris: A Case Report. ( 29754526 )
2018
26
Refractory pityriasis rubra pilaris treated with etanercept, adalimumab, or ustekinumab: A retrospective investigation. ( 29034547 )
2017
27
Ichthyosiform Pityriasis Rubra Pilaris-Like Eruption Secondary to Ponatinib Therapy: Case Report and Literature Review. ( 29138996 )
2017
28
Paraneoplastic pityriasis rubra pilaris: case report and literature review. ( 27896859 )
2017
29
Differentiation of pityriasis rubra pilaris from plaque psoriasis by dermoscopy. ( 28280914 )
2017
30
Pityriasis rubra pilaris and severe hypereosinophilia. ( 29121136 )
2017
31
Beneficial effect of ustekinumab in familial pityriasis rubra pilaris with a new missense mutation in CARD14. ( 28301045 )
2017
32
Pityriasis rubra pilaris: algorithms for diagnosis and treatment. ( 29247481 )
2017
33
High grade follicular lymphoma in a patient receiving adalimumab and methotrexate for pityriasis rubra pilaris. ( 28266882 )
2017
34
Resolving classic pityriasis rubra pilaris, mimicker of erythema gyratum repens. ( 29192964 )
2017
35
Interleukin 23-Helper T Cell 17 Axis as a Treatment Target for Pityriasis Rubra Pilaris. ( 28122069 )
2017
36
Follicular Psoriasis: Differentiation from Pityriasis Rubra Pilaris-An Illustrative Case and Review of the Literature. ( 27874201 )
2017
37
Management of refractory pityriasis rubra pilaris: challenges and solutions. ( 29184428 )
2017
38
Pityriasis Rubra Pilaris Type V as an Autoinflammatory Disease by CARD14 Mutations. ( 27760266 )
2017
39
Epidemiologic, Clinicopathologic, Diagnostic, and Management Challenges of Pityriasis Rubra Pilaris: A Case Series of 100 Patients. ( 26963004 )
2016
40
Case of pityriasis rubra pilaris with annular pattern as an early manifestation. ( 27264697 )
2016
41
Pityriasis Rubra Pilaris in a 3-Year-Old Male. ( 26926758 )
2016
42
Successful Treatment of Refractory Pityriasis Rubra Pilaris With Secukinumab. ( 27706476 )
2016
43
Erythrodermic pityriasis rubra pilaris: Dramatic response to infliximab therapy. ( 26728835 )
2016
44
Infliximab-induced cutaneous eruption resembling pityriasis rubra pilaris in a patient with Takayasu's arteritis. ( 27862745 )
2016
45
Pityriasis rubra pilaris and mesangial proliferative glomerulonephritis in a child: Association or coincidence? ( 26937085 )
2016
46
Successful treatment of type II pityriasis rubra pilaris with secukinumab. ( 27981219 )
2016
47
Photosensitive pityriasis rubra pilaris. ( 27512362 )
2016
48
Target-sequence Capture and High Throughput Sequencing Identify a de novo CARD14 Mutation in an Infant with Erythrodermic Pityriasis Rubra Pilaris. ( 27140437 )
2016
49
Bevacizumab-induced pityriasis rubra pilaris-like eruption. ( 27365893 )
2016
50
Late onset pityriasis rubra pilaris type IV treated with low-dose acitretin. ( 27014774 )
2016

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 122)
# 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.589G> A (p.Glu197Lys) single nucleotide variant Uncertain significance rs200790561 GRCh37 Chromosome 17, 78157951: 78157951
6 CARD14 NM_024110.4(CARD14): c.589G> A (p.Glu197Lys) single nucleotide variant Uncertain significance rs200790561 GRCh38 Chromosome 17, 80184152: 80184152
7 CARD14 NM_024110.4(CARD14): c.881C> T (p.Ala294Val) single nucleotide variant Uncertain significance rs139466192 GRCh37 Chromosome 17, 78163589: 78163589
8 CARD14 NM_024110.4(CARD14): c.881C> T (p.Ala294Val) single nucleotide variant Uncertain significance rs139466192 GRCh38 Chromosome 17, 80189790: 80189790
9 CARD14 NM_024110.4(CARD14): c.299A> G (p.Tyr100Cys) single nucleotide variant Uncertain significance rs552779505 GRCh37 Chromosome 17, 78156539: 78156539
10 CARD14 NM_024110.4(CARD14): c.299A> G (p.Tyr100Cys) single nucleotide variant Uncertain significance rs552779505 GRCh38 Chromosome 17, 80182740: 80182740
11 CARD14 NM_024110.4(CARD14): c.960G> A (p.Glu320=) single nucleotide variant Benign rs144207494 GRCh37 Chromosome 17, 78163668: 78163668
12 CARD14 NM_024110.4(CARD14): c.960G> A (p.Glu320=) single nucleotide variant Benign rs144207494 GRCh38 Chromosome 17, 80189869: 80189869
13 CARD14 NM_024110.4(CARD14): c.1371G> A (p.Ser457=) single nucleotide variant Benign rs62074378 GRCh38 Chromosome 17, 80195205: 80195205
14 CARD14 NM_024110.4(CARD14): c.1371G> A (p.Ser457=) single nucleotide variant Benign rs62074378 GRCh37 Chromosome 17, 78169004: 78169004
15 CARD14 NM_024110.4(CARD14): c.1789C> T (p.Arg597Trp) single nucleotide variant Benign rs73429414 GRCh38 Chromosome 17, 80198529: 80198529
16 CARD14 NM_024110.4(CARD14): c.1789C> T (p.Arg597Trp) single nucleotide variant Benign rs73429414 GRCh37 Chromosome 17, 78172328: 78172328
17 CARD14 NM_024110.4(CARD14): c.2859G> A (p.Ala953=) single nucleotide variant Benign rs139969019 GRCh38 Chromosome 17, 80208189: 80208189
18 CARD14 NM_024110.4(CARD14): c.2859G> A (p.Ala953=) single nucleotide variant Benign rs139969019 GRCh37 Chromosome 17, 78181988: 78181988
19 CARD14 NM_024110.4(CARD14): c.556G> A (p.Ala186Thr) single nucleotide variant Uncertain significance rs190213582 GRCh38 Chromosome 17, 80184119: 80184119
20 CARD14 NM_024110.4(CARD14): c.556G> A (p.Ala186Thr) single nucleotide variant Uncertain significance rs190213582 GRCh37 Chromosome 17, 78157918: 78157918
21 CARD14 NM_024110.4(CARD14): c.709A> C (p.Asn237His) single nucleotide variant Benign rs114218658 GRCh38 Chromosome 17, 80188410: 80188410
22 CARD14 NM_024110.4(CARD14): c.709A> C (p.Asn237His) single nucleotide variant Benign rs114218658 GRCh37 Chromosome 17, 78162209: 78162209
23 CARD14 NM_024110.4(CARD14): c.2191G> A (p.Ala731Thr) single nucleotide variant Uncertain significance rs537086902 GRCh38 Chromosome 17, 80202392: 80202392
24 CARD14 NM_024110.4(CARD14): c.2191G> A (p.Ala731Thr) single nucleotide variant Uncertain significance rs537086902 GRCh37 Chromosome 17, 78176191: 78176191
25 CARD14 NM_024110.4(CARD14): c.2193G> A (p.Ala731=) single nucleotide variant Benign rs35692270 GRCh38 Chromosome 17, 80202394: 80202394
26 CARD14 NM_024110.4(CARD14): c.2193G> A (p.Ala731=) single nucleotide variant Benign rs35692270 GRCh37 Chromosome 17, 78176193: 78176193
27 CARD14 NM_024110.4(CARD14): c.2772C> T (p.His924=) single nucleotide variant Benign rs146356100 GRCh38 Chromosome 17, 80207050: 80207050
28 CARD14 NM_024110.4(CARD14): c.2772C> T (p.His924=) single nucleotide variant Benign rs146356100 GRCh37 Chromosome 17, 78180849: 78180849
29 CARD14 NM_024110.4(CARD14): c.203T> C (p.Met68Thr) single nucleotide variant Uncertain significance rs773633754 GRCh38 Chromosome 17, 80181641: 80181641
30 CARD14 NM_024110.4(CARD14): c.203T> C (p.Met68Thr) single nucleotide variant Uncertain significance rs773633754 GRCh37 Chromosome 17, 78155440: 78155440
31 CARD14 NM_024110.4(CARD14): c.378G> A (p.Glu126=) single nucleotide variant Benign rs138552007 GRCh38 Chromosome 17, 80183941: 80183941
32 CARD14 NM_024110.4(CARD14): c.378G> A (p.Glu126=) single nucleotide variant Benign rs138552007 GRCh37 Chromosome 17, 78157740: 78157740
33 CARD14 NM_024110.4(CARD14): c.599G> T (p.Ser200Ile) single nucleotide variant Benign rs114688446 GRCh38 Chromosome 17, 80184162: 80184162
34 CARD14 NM_024110.4(CARD14): c.599G> T (p.Ser200Ile) single nucleotide variant Benign rs114688446 GRCh37 Chromosome 17, 78157961: 78157961
35 CARD14 NM_024110.4(CARD14): c.931C> A (p.Arg311=) single nucleotide variant Benign rs145167842 GRCh38 Chromosome 17, 80189840: 80189840
36 CARD14 NM_024110.4(CARD14): c.931C> A (p.Arg311=) single nucleotide variant Benign rs145167842 GRCh37 Chromosome 17, 78163639: 78163639
37 CARD14 NM_024110.4(CARD14): c.1170C> T (p.Phe390=) single nucleotide variant Benign rs74951924 GRCh38 Chromosome 17, 80191403: 80191403
38 CARD14 NM_024110.4(CARD14): c.1170C> T (p.Phe390=) single nucleotide variant Benign rs74951924 GRCh37 Chromosome 17, 78165202: 78165202
39 CARD14 NM_024110.4(CARD14): c.1264G> A (p.Glu422Lys) single nucleotide variant Benign rs61751629 GRCh38 Chromosome 17, 80192527: 80192527
40 CARD14 NM_024110.4(CARD14): c.1264G> A (p.Glu422Lys) single nucleotide variant Benign rs61751629 GRCh37 Chromosome 17, 78166326: 78166326
41 CARD14 NM_024110.4(CARD14): c.1517C> T (p.Pro506Leu) single nucleotide variant Benign rs61751630 GRCh38 Chromosome 17, 80195575: 80195575
42 CARD14 NM_024110.4(CARD14): c.1517C> T (p.Pro506Leu) single nucleotide variant Benign rs61751630 GRCh37 Chromosome 17, 78169374: 78169374
43 CARD14 NM_024110.4(CARD14): c.1917C> T (p.Ala639=) single nucleotide variant Benign rs79407194 GRCh38 Chromosome 17, 80201809: 80201809
44 CARD14 NM_024110.4(CARD14): c.1917C> T (p.Ala639=) single nucleotide variant Benign rs79407194 GRCh37 Chromosome 17, 78175608: 78175608
45 CARD14 NM_024110.4(CARD14): c.2267G> A (p.Cys756Tyr) single nucleotide variant Benign rs34822755 GRCh38 Chromosome 17, 80203869: 80203869
46 CARD14 NM_024110.4(CARD14): c.2267G> A (p.Cys756Tyr) single nucleotide variant Benign rs34822755 GRCh37 Chromosome 17, 78177668: 78177668
47 CARD14 NM_024110.4(CARD14): c.1065C> T (p.Cys355=) single nucleotide variant Benign rs140246774 GRCh37 Chromosome 17, 78164674: 78164674
48 CARD14 NM_024110.4(CARD14): c.1065C> T (p.Cys355=) single nucleotide variant Benign rs140246774 GRCh38 Chromosome 17, 80190875: 80190875
49 CARD14 NM_024110.4(CARD14): c.1415G> A (p.Arg472His) single nucleotide variant Likely benign rs377226624 GRCh38 Chromosome 17, 80195249: 80195249
50 CARD14 NM_024110.4(CARD14): c.1415G> A (p.Arg472His) single nucleotide variant Likely benign rs377226624 GRCh37 Chromosome 17, 78169048: 78169048

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 tumor necrosis factor-mediated signaling pathway GO:0033209 9.16 CARD14 TNFRSF1B
2 inflammatory response GO:0006954 9.13 IL1RL2 IL36RN TNFRSF1B
3 cytokine-mediated signaling pathway GO:0019221 8.8 IL1RL2 IL36RN TNFRSF1B

Sources for Pityriasis Rubra Pilaris

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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