MCID: PSR017
MIFTS: 39

Psoriasis 2

Categories: Genetic diseases, Skin diseases, Rare diseases

Aliases & Classifications for Psoriasis 2

MalaCards integrated aliases for Psoriasis 2:

Name: Psoriasis 2 57 75 73
Psoriasis Vulgaris 75 73
Psoriasis 75 73
Psors2 57 75
Psoriasis, Susceptibility to, Type 2 40
Pv 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variability in age of onset and severity of disease


HPO:

32
psoriasis 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Psoriasis 2

UniProtKB/Swiss-Prot : 75 Psoriasis 2: A common, chronic inflammatory disease of the skin with multifactorial etiology. It is characterized by red, scaly plaques usually found on the scalp, elbows and knees. These lesions are caused by abnormal keratinocyte proliferation and infiltration of inflammatory cells into the dermis and epidermis.

MalaCards based summary : Psoriasis 2, also known as psoriasis vulgaris, is related to psoriasis and psoriasis 1, and has symptoms including exanthema, pruritus and psoriasiform rash. An important gene associated with Psoriasis 2 is CARD14 (Caspase Recruitment Domain Family Member 14). The drugs Ustekinumab and Dermatologic Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, t cells and liver, and related phenotypes are hyperkeratosis and parakeratosis

Description from OMIM: 602723

Related Diseases for Psoriasis 2

Diseases in the Psoriasis family:

Psoriasis 1 Psoriasis 3
Psoriasis 2 Psoriasis 4
Psoriasis 5 Psoriasis 6
Psoriasis 7 Psoriasis 9
Psoriasis 8 Psoriasis 10
Psoriasis 11 Psoriasis 12
Psoriasis 13

Diseases related to Psoriasis 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 psoriasis 28.5 CARD14 KRT16
2 psoriasis 1 12.1
3 polycythemia vera 12.1
4 psoriasis 7 11.7
5 psoriasis 11 11.7
6 psoriasis 13 11.7
7 psoriasis 14, pustular 11.5
8 dermatitis, atopic 9.9
9 psoriatic arthritis 9.9
10 arthritis 9.9
11 dermatitis 9.9
12 skin disease 9.2 CARD14 KRT16

Graphical network of the top 20 diseases related to Psoriasis 2:



Diseases related to Psoriasis 2

Symptoms & Phenotypes for Psoriasis 2

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin Histology:
hyperkeratosis
parakeratosis
follicular plugging
alternating orthokeratosis and parakeratosis (in some patients)
loss of granular layer
more
Skin Nails Hair Skin:
plaque-like scaling skin lesions
erythrodermic psoriasis (in some patients)
pustular psoriasis (in some patients)
skin atrophy, diffuse, in older patients

Skeletal:
arthritis, psoriatic (in some patients)


Clinical features from OMIM:

602723

Human phenotypes related to Psoriasis 2:

32
# Description HPO Frequency HPO Source Accession
1 hyperkeratosis 32 HP:0000962
2 parakeratosis 32 HP:0001036
3 psoriasiform dermatitis 32 HP:0003765
4 epidermal acanthosis 32 HP:0025092

UMLS symptoms related to Psoriasis 2:


exanthema, pruritus, psoriasiform rash

Drugs & Therapeutics for Psoriasis 2

Drugs for Psoriasis 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ustekinumab Approved, Investigational Phase 3 815610-63-0
2 Dermatologic Agents Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 BI 655066 Compared to Placebo & Active Comparator (Ustekinumab) in Patients With Moderate to Severe Chronic Plaque Psoriasis Completed NCT02684357 Phase 3 ABBV-066;ustekinumab;placebo for ABBV-066;placebo for ustekinumab

Search NIH Clinical Center for Psoriasis 2

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Genetic Tests for Psoriasis 2

Anatomical Context for Psoriasis 2

MalaCards organs/tissues related to Psoriasis 2:

41
Skin, T Cells, Liver, Thyroid, Neutrophil, Tongue, Pituitary

Publications for Psoriasis 2

Articles related to Psoriasis 2:

(show top 50) (show all 296)
# Title Authors Year
1
Psoriasis vulgaris in a patient with pemphigus vulgaris on corticosteroid therapy. ( 29689136 )
2018
2
Relationship between etanercept and thyroid function in patients with psoriasis vulgaris. ( 29440950 )
2018
3
Auftreten einer Psoriasis vulgaris bei einem Patienten mit Pemphigus vulgaris unter Kortikosteroidtherapie. ( 29750447 )
2018
4
Relapsing polychondritis associated with psoriasis vulgaris successfully treated with adalimumab: A case report with published work review. ( 28266051 )
2017
5
Adult-onset Still's disease in a patient with psoriasis vulgaris showing inverse correlation of disease activity. ( 29083047 )
2017
6
The association of genetic variants in chemokine genes with the risk of psoriasis vulgaris in Chinese population: A case-control study. ( 29145242 )
2017
7
[The positive relationship between survivin and STAT2 up-expressed in skin lesions of psoriasis vulgaris]. ( 29089085 )
2017
8
Natural killer cells from psoriasis vulgaris patients have reduced levels of cytotoxicity associated degranulation and cytokine production. ( 26477484 )
2017
9
Tumor necrosis factor alpha gene promoter -238G/A polymorphism increases the risk of psoriasis vulgaris in Indian patients. ( 28093730 )
2017
10
Methods report: European S3-Guideline on the systemic treatment of psoriasis vulgaris - Update Apremilast and Secukinumab - EDF in cooperation with EADV and IPC. ( 28944515 )
2017
11
The Investigation of Antimicrobial Peptides Expression and Its Related Interaction with Methotrexate Treatment in Patients with Psoriasis Vulgaris. ( 28067065 )
2017
12
MicroRNA138 regulates keratin 17 protein expression to affect HaCaT cell proliferation and apoptosis by targeting hTERT in psoriasis vulgaris. ( 27936398 )
2017
13
MiR-200a expression in CD4+ T cells correlates with the expression of Th17/Treg cells and relevant cytokines in psoriasis vulgaris: A case control study. ( 28738533 )
2017
14
Is Ki-67, keratin 16, involucrin, and filaggrin immunostaining sufficient to diagnose inflammatory linear verrucous epidermal nevus? A report of eight cases and a comparison with psoriasis vulgaris. ( 29166506 )
2017
15
Bullous pemphigoid with IgG autoantibodies to the I+3 subunit of laminin 332 associated with psoriasis vulgaris. ( 28468743 )
2017
16
Cyr61/CCN1 is involved in the pathogenesis of psoriasis vulgaris via promoting IL-8 production by keratinocytes in a JNK/NF-I_B pathway. ( 27856305 )
2017
17
Lack of association between CARD10/CARMA3 tag SNPs and psoriasis vulgaris in the southern Chinese population. ( 28301668 )
2017
18
Pityriasis Lichenoides et Varioliformis Acuta and Psoriasis Vulgaris: Mere Coincidence or a Rare Association? ( 28218230 )
2017
19
The development of chronic inflammatory demyelinating polyneuropathy during adalimumab treatment in a patient with psoriasis vulgaris. ( 27086491 )
2016
20
Altered Circulating T Follicular Helper Cell Subsets in Patients with Psoriasis Vulgaris. ( 27662792 )
2016
21
Recurrence of Psoriasis Vulgaris Accompanied by Treatment with C-C Chemokine Receptor Type 4 (CCR4) Antibody (Mogamulizumab) Therapies in a Patient with Adult T cell Leukemia/ Lymphoma: Insight into Autoinflammatory Diseases. ( 27181545 )
2016
22
CARD14 gene polymorphism c.C2458T (p.Arg820Trp) is associated with clinical features of psoriasis vulgaris in a Chinese cohort. ( 26249641 )
2016
23
Variants of CARD14 gene and psoriasis vulgaris in southern Chinese cohort. ( 26982778 )
2016
24
Based on Molecular Profiling of Gene Expression, Palmoplantar Pustulosis and Palmoplantar Pustular Psoriasis Are Highly Related Diseases that Appear to Be Distinct from Psoriasis Vulgaris. ( 27152848 )
2016
25
A Genetic Variant rs1020760at NFKB1 is Associated with Clinical Features of Psoriasis Vulgaris in a Han Chinese Population. ( 27346731 )
2016
26
Novel inflammatory markers in psoriasis vulgaris: vaspin, vascular adhesion protein-1 (VAP-1), and YKL-40. ( 25279492 )
2016
27
The -2518 A/G MCP-1 and -403 G/A RANTES promoter gene polymorphisms are associated with psoriasis vulgaris. ( 27859608 )
2016
28
Serum levels of TWEAK in patients with psoriasis vulgaris. ( 26499979 )
2016
29
TLR2 and TLR4 polymorphisms in Southern Chinese Psoriasis Vulgaris patients. ( 27155792 )
2016
30
Colocalization of linear lichen planus and psoriasis vulgaris. ( 27730052 )
2016
31
Low vitamin D-modulated calcium-regulating proteins in psoriasis vulgaris plaques: S100A7 overexpression depends on joint involvement. ( 27573000 )
2016
32
A Case of Severe Panuveitis Associated with Psoriasis Vulgaris Successfully Treated with Infliximab. ( 27239187 )
2016
33
Serum Preptin and Amylin Values in Psoriasis Vulgaris and BehAset's Patients. ( 25545917 )
2016
34
The Spectrum of Mild to Severe Psoriasis Vulgaris Is Defined by a Common Activation of IL-17 Pathway Genes, butA with Key Differences in Immune Regulatory Genes. ( 27185339 )
2016
35
Correction: Based on Molecular Profiling of Gene Expression, Palmoplantar Pustulosis and Palmoplantar Pustular Psoriasis Are Highly Related Diseases that Appear to Be Distinct from Psoriasis Vulgaris. ( 27326461 )
2016
36
Association between atopic dermatitis-related single nucleotide polymorphisms rs4722404 and psoriasis vulgaris in a southern Chinese cohort. ( 27421022 )
2016
37
[Verrucous variant of porokeratosis of Mibelli as a differential diagnosis of psoriasis vulgaris]. ( 26525967 )
2016
38
Association analysis of psoriasis vulgaris and psoriatic arthritis with loss-of-function mutations in IL36RN in German patients. ( 27038307 )
2016
39
A genetic coding variant rs72474224 in GJB2 is associated with clinical features of psoriasis vulgaris in a Chinese Han population. ( 26104599 )
2015
40
Epidermolysis bullosa acquisita in a patient with psoriasis vulgaris. ( 26243636 )
2015
41
The role of CGRP and CALCA T-692C single-nucleotide polymorphism in psoriasis vulgaris. ( 25997247 )
2015
42
Anti-laminin-gamma 1 Pemphigoid with Generalized Pustular Psoriasis and Psoriasis Vulgaris. ( 26074471 )
2015
43
Association of angiopoietin-1, angiopoietin-2 and caspase-5 polymorphisms with psoriasis vulgaris. ( 25753570 )
2015
44
Circulating levels of inflammatory cytokines in patients with psoriasis vulgaris of different Chinese medicine syndromes. ( 25523599 )
2015
45
Exacerbation of psoriasis vulgaris during nivolumab for oral mucosal melanoma. ( 26388113 )
2015
46
Cetuximab and panitumumab in a patient with colon cancer and concomitant chronic skin disease: A potential beneficial effect on psoriasis vulgaris. ( 25834345 )
2015
47
Progranulin is preferentially expressed in patients with psoriasis vulgaris and protects mice from psoriasis-like skin inflammation. ( 25626394 )
2015
48
Activating CARD14 Mutations Are Associated with Generalized Pustular Psoriasis but Rarely Account for Familial Recurrence in Psoriasis Vulgaris. ( 26203641 )
2015
49
MMP-9 gene polymorphisms (rs3918242, rs3918254 and rs4810482) and the risk of psoriasis vulgaris: No evidence for associations in a Chinese Han population. ( 26554609 )
2015
50
The TNFAIP3 polymorphism rs610604 both associates with the risk of psoriasis vulgaris and affects the clinical severity. ( 25496073 )
2015

Variations for Psoriasis 2

UniProtKB/Swiss-Prot genetic disease variations for Psoriasis 2:

75
# Symbol AA change Variation ID SNP ID
1 CARD14 p.Gly117Ser VAR_068224 rs281875215
2 CARD14 p.Glu138Ala VAR_068225 rs281875214
3 CARD14 p.Glu142Gly VAR_068226 rs281875213
4 CARD14 p.Glu142Lys VAR_068227 rs281875212
5 CARD14 p.Leu150Arg VAR_068228 rs146214639
6 CARD14 p.Arg69Trp VAR_078583 rs375624435
7 CARD14 p.Glu197Lys VAR_078588 rs200790561

ClinVar genetic disease variations for Psoriasis 2:

6
(show top 50) (show all 126)
# Gene Variation Type Significance SNP ID Assembly Location
1 CARD14 NM_024110.4(CARD14): c.349G> A (p.Gly117Ser) single nucleotide variant Pathogenic rs281875215 GRCh37 Chromosome 17, 78156589: 78156589
2 CARD14 NM_024110.4(CARD14): c.349G> A (p.Gly117Ser) single nucleotide variant Pathogenic rs281875215 GRCh38 Chromosome 17, 80182790: 80182790
3 CARD14 NM_024110.4(CARD14): c.349+5G> A single nucleotide variant Pathogenic rs587777763 GRCh38 Chromosome 17, 80182795: 80182795
4 CARD14 NM_024110.4(CARD14): c.349+5G> A single nucleotide variant Pathogenic rs587777763 GRCh37 Chromosome 17, 78156594: 78156594
5 CARD14 NM_024110.4(CARD14): c.425A> G (p.Glu142Gly) single nucleotide variant Pathogenic rs281875213 GRCh37 Chromosome 17, 78157787: 78157787
6 CARD14 NM_024110.4(CARD14): c.425A> G (p.Glu142Gly) single nucleotide variant Pathogenic rs281875213 GRCh38 Chromosome 17, 80183988: 80183988
7 CARD14 NM_024110.4(CARD14): c.424G> A (p.Glu142Lys) single nucleotide variant Pathogenic rs281875212 GRCh37 Chromosome 17, 78157786: 78157786
8 CARD14 NM_024110.4(CARD14): c.424G> A (p.Glu142Lys) single nucleotide variant Pathogenic rs281875212 GRCh38 Chromosome 17, 80183987: 80183987
9 CARD14 NM_024110.4(CARD14): c.589G> A (p.Glu197Lys) single nucleotide variant Uncertain significance rs200790561 GRCh37 Chromosome 17, 78157951: 78157951
10 CARD14 NM_024110.4(CARD14): c.589G> A (p.Glu197Lys) single nucleotide variant Uncertain significance rs200790561 GRCh38 Chromosome 17, 80184152: 80184152
11 CARD14 NM_024110.4(CARD14): c.881C> T (p.Ala294Val) single nucleotide variant Uncertain significance rs139466192 GRCh37 Chromosome 17, 78163589: 78163589
12 CARD14 NM_024110.4(CARD14): c.881C> T (p.Ala294Val) single nucleotide variant Uncertain significance rs139466192 GRCh38 Chromosome 17, 80189790: 80189790
13 CARD14 NM_024110.4(CARD14): c.299A> G (p.Tyr100Cys) single nucleotide variant Uncertain significance rs552779505 GRCh37 Chromosome 17, 78156539: 78156539
14 CARD14 NM_024110.4(CARD14): c.299A> G (p.Tyr100Cys) single nucleotide variant Uncertain significance rs552779505 GRCh38 Chromosome 17, 80182740: 80182740
15 CARD14 NM_024110.4(CARD14): c.960G> A (p.Glu320=) single nucleotide variant Benign rs144207494 GRCh37 Chromosome 17, 78163668: 78163668
16 CARD14 NM_024110.4(CARD14): c.960G> A (p.Glu320=) single nucleotide variant Benign rs144207494 GRCh38 Chromosome 17, 80189869: 80189869
17 CARD14 NM_024110.4(CARD14): c.1371G> A (p.Ser457=) single nucleotide variant Benign rs62074378 GRCh38 Chromosome 17, 80195205: 80195205
18 CARD14 NM_024110.4(CARD14): c.1371G> A (p.Ser457=) single nucleotide variant Benign rs62074378 GRCh37 Chromosome 17, 78169004: 78169004
19 CARD14 NM_024110.4(CARD14): c.1789C> T (p.Arg597Trp) single nucleotide variant Benign rs73429414 GRCh38 Chromosome 17, 80198529: 80198529
20 CARD14 NM_024110.4(CARD14): c.1789C> T (p.Arg597Trp) single nucleotide variant Benign rs73429414 GRCh37 Chromosome 17, 78172328: 78172328
21 CARD14 NM_024110.4(CARD14): c.2859G> A (p.Ala953=) single nucleotide variant Benign rs139969019 GRCh38 Chromosome 17, 80208189: 80208189
22 CARD14 NM_024110.4(CARD14): c.2859G> A (p.Ala953=) single nucleotide variant Benign rs139969019 GRCh37 Chromosome 17, 78181988: 78181988
23 CARD14 NM_024110.4(CARD14): c.556G> A (p.Ala186Thr) single nucleotide variant Uncertain significance rs190213582 GRCh38 Chromosome 17, 80184119: 80184119
24 CARD14 NM_024110.4(CARD14): c.556G> A (p.Ala186Thr) single nucleotide variant Uncertain significance rs190213582 GRCh37 Chromosome 17, 78157918: 78157918
25 CARD14 NM_024110.4(CARD14): c.709A> C (p.Asn237His) single nucleotide variant Benign rs114218658 GRCh38 Chromosome 17, 80188410: 80188410
26 CARD14 NM_024110.4(CARD14): c.709A> C (p.Asn237His) single nucleotide variant Benign rs114218658 GRCh37 Chromosome 17, 78162209: 78162209
27 CARD14 NM_024110.4(CARD14): c.2191G> A (p.Ala731Thr) single nucleotide variant Uncertain significance rs537086902 GRCh38 Chromosome 17, 80202392: 80202392
28 CARD14 NM_024110.4(CARD14): c.2191G> A (p.Ala731Thr) single nucleotide variant Uncertain significance rs537086902 GRCh37 Chromosome 17, 78176191: 78176191
29 CARD14 NM_024110.4(CARD14): c.2193G> A (p.Ala731=) single nucleotide variant Benign rs35692270 GRCh38 Chromosome 17, 80202394: 80202394
30 CARD14 NM_024110.4(CARD14): c.2193G> A (p.Ala731=) single nucleotide variant Benign rs35692270 GRCh37 Chromosome 17, 78176193: 78176193
31 CARD14 NM_024110.4(CARD14): c.2772C> T (p.His924=) single nucleotide variant Benign rs146356100 GRCh38 Chromosome 17, 80207050: 80207050
32 CARD14 NM_024110.4(CARD14): c.2772C> T (p.His924=) single nucleotide variant Benign rs146356100 GRCh37 Chromosome 17, 78180849: 78180849
33 CARD14 NM_024110.4(CARD14): c.203T> C (p.Met68Thr) single nucleotide variant Uncertain significance rs773633754 GRCh38 Chromosome 17, 80181641: 80181641
34 CARD14 NM_024110.4(CARD14): c.203T> C (p.Met68Thr) single nucleotide variant Uncertain significance rs773633754 GRCh37 Chromosome 17, 78155440: 78155440
35 CARD14 NM_024110.4(CARD14): c.378G> A (p.Glu126=) single nucleotide variant Benign rs138552007 GRCh38 Chromosome 17, 80183941: 80183941
36 CARD14 NM_024110.4(CARD14): c.378G> A (p.Glu126=) single nucleotide variant Benign rs138552007 GRCh37 Chromosome 17, 78157740: 78157740
37 CARD14 NM_024110.4(CARD14): c.599G> T (p.Ser200Ile) single nucleotide variant Benign rs114688446 GRCh38 Chromosome 17, 80184162: 80184162
38 CARD14 NM_024110.4(CARD14): c.599G> T (p.Ser200Ile) single nucleotide variant Benign rs114688446 GRCh37 Chromosome 17, 78157961: 78157961
39 CARD14 NM_024110.4(CARD14): c.931C> A (p.Arg311=) single nucleotide variant Benign rs145167842 GRCh38 Chromosome 17, 80189840: 80189840
40 CARD14 NM_024110.4(CARD14): c.931C> A (p.Arg311=) single nucleotide variant Benign rs145167842 GRCh37 Chromosome 17, 78163639: 78163639
41 CARD14 NM_024110.4(CARD14): c.1170C> T (p.Phe390=) single nucleotide variant Benign rs74951924 GRCh38 Chromosome 17, 80191403: 80191403
42 CARD14 NM_024110.4(CARD14): c.1170C> T (p.Phe390=) single nucleotide variant Benign rs74951924 GRCh37 Chromosome 17, 78165202: 78165202
43 CARD14 NM_024110.4(CARD14): c.1264G> A (p.Glu422Lys) single nucleotide variant Benign rs61751629 GRCh38 Chromosome 17, 80192527: 80192527
44 CARD14 NM_024110.4(CARD14): c.1264G> A (p.Glu422Lys) single nucleotide variant Benign rs61751629 GRCh37 Chromosome 17, 78166326: 78166326
45 CARD14 NM_024110.4(CARD14): c.1517C> T (p.Pro506Leu) single nucleotide variant Benign rs61751630 GRCh38 Chromosome 17, 80195575: 80195575
46 CARD14 NM_024110.4(CARD14): c.1517C> T (p.Pro506Leu) single nucleotide variant Benign rs61751630 GRCh37 Chromosome 17, 78169374: 78169374
47 CARD14 NM_024110.4(CARD14): c.1917C> T (p.Ala639=) single nucleotide variant Benign rs79407194 GRCh38 Chromosome 17, 80201809: 80201809
48 CARD14 NM_024110.4(CARD14): c.1917C> T (p.Ala639=) single nucleotide variant Benign rs79407194 GRCh37 Chromosome 17, 78175608: 78175608
49 CARD14 NM_024110.4(CARD14): c.2267G> A (p.Cys756Tyr) single nucleotide variant Benign rs34822755 GRCh38 Chromosome 17, 80203869: 80203869
50 CARD14 NM_024110.4(CARD14): c.2267G> A (p.Cys756Tyr) single nucleotide variant Benign rs34822755 GRCh37 Chromosome 17, 78177668: 78177668

Expression for Psoriasis 2

Search GEO for disease gene expression data for Psoriasis 2.

Pathways for Psoriasis 2

GO Terms for Psoriasis 2

Sources for Psoriasis 2

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
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44 MeSH
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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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