PSORS1
MCID: PSR023
MIFTS: 42

Psoriasis 1 (PSORS1)

Categories: Genetic diseases, Immune diseases, Rare diseases, Skin diseases

Aliases & Classifications for Psoriasis 1

MalaCards integrated aliases for Psoriasis 1:

Name: Psoriasis 1 58 76
Psoriasis Susceptibility 1 58 13 6
Psoriasis Vulgaris 76 17 74
Psoriasis 76 74
Psors1 58 76
Psoriasis, Susceptibility to, Type 1 41
Psoriasis 1, Susceptibility to 58
Pv 76

Characteristics:

OMIM:

58
Inheritance:
multifactorial

Miscellaneous:
prevalence 1-2% in northern european populations
onset bimodal, ages 16-22 and ages 57-60
inflammatory arthritis may develop in 30% of patients
types of psoriasis include - plaque, guttate, erythrodermic, pustular
environmental triggers include (koebner's phenomenon), sunburn, hiv infection, beta-hemolytic streptococcal infection, certain medications, stress, and alcohol


HPO:

33
psoriasis 1:
Inheritance multifactorial inheritance


Classifications:



External Ids:

OMIM 58 177900
MeSH 45 D011565
ICD10 34 L40.0
MedGen 43 C1867449
SNOMED-CT via HPO 70 3723001 89704006 9014002

Summaries for Psoriasis 1

OMIM : 58 Psoriasis (psoriasis vulgaris; PV) is a chronic inflammatory dermatosis that affects approximately 2% of the population. It is characterized by red, scaly skin patches that are usually found on the scalp, elbows, and knees, and may be associated with severe arthritis. The lesions are caused by abnormal keratinocyte proliferation and infiltration of inflammatory cells into the dermis and epidermis. The usual age of onset of psoriasis is between 15 and 30 years, although it can present at any age (summary by Matthews et al., 1996). Generalized pustular psoriasis (GPP) is a life-threatening disease characterized by sudden, repeated episodes of high-grade fever, generalized rash, and disseminated pustules, with hyperleukocytosis and elevated serum levels of C-reactive protein (123260) (summary by Marrakchi et al., 2011). GPP often presents in patients with existing or prior psoriasis vulgaris; however, GPP can develop without a history of PV (Sugiura et al., 2013). Palmoplantar pustulosis and acrodermatitis continua of Hallopeau represent acral forms of pustular psoriasis that have historically been grouped with GPP (summary by Setta-Kaffetzi et al., 2013). Nestle et al. (2009) provided a detailed review of the pathogenesis and genetics of psoriasis. (177900)

MalaCards based summary : Psoriasis 1, also known as psoriasis susceptibility 1, is related to spondylitis and psoriatic arthritis, and has symptoms including pruritus, exanthema and psoriasiform rash. An important gene associated with Psoriasis 1 is HLA-C (Major Histocompatibility Complex, Class I, C), and among its related pathways/superpathways are Human cytomegalovirus infection and Allograft rejection. Affiliated tissues include skin, and related phenotypes are arthritis and nail pits

UniProtKB/Swiss-Prot : 76 Psoriasis 1: 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.

Related Diseases for Psoriasis 1

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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 745)
# Related Disease Score Top Affiliating Genes
1 spondylitis 29.9 MICA HLA-C
2 psoriatic arthritis 29.5 MICA HLA-C
3 behcet syndrome 28.5 MICA HLA-C
4 pustular psoriasis 12.5
5 polycythemia vera 12.4
6 psoriasis 15, pustular 12.4
7 psoriasis 10 12.2
8 pustulosis palmaris et plantaris 12.2
9 psoriasis 6 12.2
10 psoriasis 3 12.2
11 psoriasis 4 12.1
12 psoriasis 5 12.1
13 psoriasis 8 12.1
14 psoriasis 12 12.1
15 mental retardation and psoriasis 12.0
16 psoriasis 9 12.0
17 psoriatic juvenile idiopathic arthritis 12.0
18 tranebjaerg svejgaard syndrome 11.8
19 impetigo herpetiformis 11.7
20 geographic tongue 11.5
21 parapsoriasis 11.4
22 pemphigus vulgaris, familial 11.4
23 persistent vegetative state 11.4
24 pulmonary valve stenosis 11.4
25 chronic recurrent multifocal osteomyelitis 11.3
26 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 11.3
27 subacute cutaneous lupus erythematosus 11.3
28 psoriasis 14, pustular 11.2
29 singleton-merten syndrome 1 11.1
30 systemic onset juvenile idiopathic arthritis 11.1
31 porphyria variegata 11.0
32 psoriasis 2 11.0
33 psoriasis 7 11.0
34 psoriasis 11 11.0
35 psoriasis 13 11.0
36 nail disorder, nonsyndromic congenital, 1 11.0
37 singleton-merten syndrome 2 11.0
38 temporomandibular ankylosis 11.0
39 primary cutaneous amyloidosis 11.0
40 combined immunodeficiency with skin granulomas 11.0
41 singleton-merten syndrome 11.0
42 dermatitis, atopic 10.6
43 rheumatoid arthritis 10.4
44 polycythemia 10.4
45 hepatitis 10.4
46 malaria 10.3
47 pemphigus 10.3
48 alopecia 10.3
49 skin disease 10.3
50 depression 10.3

Graphical network of the top 20 diseases related to Psoriasis 1:



Diseases related to Psoriasis 1

Symptoms & Phenotypes for Psoriasis 1

Human phenotypes related to Psoriasis 1:

33
# Description HPO Frequency HPO Source Accession
1 arthritis 33 HP:0001369
2 nail pits 33 HP:0001803
3 psoriasiform dermatitis 33 HP:0003765
4 onychomadesis 33 HP:0025088

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Nails:
onycholysis
nail pitting
onychomadesis
dystrophic nail changes

Skin Nails Hair Skin:
red, raised, scaly skin patches (elbows, knees, scalp)

Immunology:
hla antigens cw6, b13, b17 associated with psoriasis

Skeletal:
arthritis (large joints, small joint, or central axial skeleton)

Skin Nails Hair Skin Histology:
lymphocytic inflammatory infiltrate
epidermal hyperproliferation
abnormal keratinocyte differentiation
koebner phenomenon

Clinical features from OMIM:

177900

UMLS symptoms related to Psoriasis 1:


pruritus, exanthema, psoriasiform rash

GenomeRNAi Phenotypes related to Psoriasis 1 according to GeneCards Suite gene sharing:

27 (show all 20)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-103 9.64 HLA-C
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.64 MICA
3 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.64 HLA-C
4 Increased shRNA abundance (Z-score > 2) GR00366-A-118 9.64 HLA-C
5 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.64 MICA
6 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.64 HLA-C
7 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.64 HLA-C
8 Increased shRNA abundance (Z-score > 2) GR00366-A-156 9.64 HLA-C
9 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.64 HLA-C
10 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.64 HLA-C
11 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.64 HLA-C MICA
12 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.64 HLA-C
13 Increased shRNA abundance (Z-score > 2) GR00366-A-31 9.64 HLA-C
14 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.64 MICA
15 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.64 HLA-C
16 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.64 MICA
17 Increased shRNA abundance (Z-score > 2) GR00366-A-7 9.64 HLA-C
18 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.64 HLA-C
19 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.64 MICA
20 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.64 HLA-C

Genetic Tests for Psoriasis 1

Anatomical Context for Psoriasis 1

MalaCards organs/tissues related to Psoriasis 1:

42
Skin

Publications for Psoriasis 1

Articles related to Psoriasis 1:

# Title Authors Year
1
'Psoriasis 1' reduces psoriasis‑like skin inflammation by inhibiting the VDR‑mediated nuclear NF‑κB and STAT signaling pathways. ( 30015892 )
2018
2
A polymorphism within the psoriasis susceptibility 1 candidate 1 (PSORS1C1) gene is not linked to HLA-B*58:01 in an Australian cohort. ( 26653889 )
2015
3
Sequence and haplotype analysis supports HLA-C as the psoriasis susceptibility 1 gene. ( 16642438 )
2006
4
A 61-year-old man with psoriasis, 1 year later. ( 9228440 )
1997

Variations for Psoriasis 1

ClinVar genetic disease variations for Psoriasis 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HLA-C HLA-C, HLA-Cw6 undetermined variant risk factor

Expression for Psoriasis 1

Search GEO for disease gene expression data for Psoriasis 1.

Pathways for Psoriasis 1

GO Terms for Psoriasis 1

Cellular components related to Psoriasis 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 8.62 HLA-C MICA

Biological processes related to Psoriasis 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 8.96 HLA-C MICA
2 regulation of immune response GO:0050776 8.62 HLA-C MICA

Sources for Psoriasis 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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