MCID: PSR023
MIFTS: 37

Psoriasis 1

Categories: Genetic diseases, Skin diseases, Rare diseases

Aliases & Classifications for Psoriasis 1

MalaCards integrated aliases for Psoriasis 1:

Name: Psoriasis 1 57 75
Psoriasis Susceptibility 1 57 13 6
Psoriasis Vulgaris 75 73
Psoriasis 75 73
Psors1 57 75
Psoriasis, Susceptibility to, Type 1 40
Psoriasis 1, Susceptibility to 57
Pv 75

Characteristics:

OMIM:

57
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:

32
psoriasis 1:
Inheritance multifactorial inheritance


Classifications:



External Ids:

OMIM 57 177900
MedGen 42 C1867449
MeSH 44 D011565
ICD10 33 L40.0
SNOMED-CT via HPO 69 3723001 89704006 9014002
UMLS 73 C0263361

Summaries for Psoriasis 1

OMIM : 57 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 psoriasis and polycythemia vera, and has symptoms including exanthema, pruritus 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 Allograft rejection and Kaposi's sarcoma-associated herpesvirus infection. Affiliated tissues include skin and liver, and related phenotypes are arthritis and nail pits

UniProtKB/Swiss-Prot : 75 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 all 12)
# Related Disease Score Top Affiliating Genes
1 psoriasis 27.8 HLA-C MICA
2 polycythemia vera 12.1
3 psoriasis 2 11.7
4 psoriasis 7 11.7
5 psoriasis 11 11.7
6 psoriasis 13 11.7
7 persistent vegetative state 11.2
8 pemphigus vulgaris, familial 11.2
9 psoriasis 14, pustular 11.0
10 spondylitis 9.4 HLA-C MICA
11 psoriatic arthritis 9.3 HLA-C MICA
12 behcet syndrome 9.2 HLA-C MICA

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



Diseases related to Psoriasis 1

Symptoms & Phenotypes for Psoriasis 1

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Psoriasis 1:

32
# Description HPO Frequency HPO Source Accession
1 arthritis 32 HP:0001369
2 nail pits 32 HP:0001803
3 psoriasiform dermatitis 32 HP:0003765
4 onychomadesis 32 HP:0025088

UMLS symptoms related to Psoriasis 1:


exanthema, pruritus, psoriasiform rash

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

26 (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:

41
Skin, Liver

Publications for Psoriasis 1

Articles related to Psoriasis 1:

# Title Authors Year
1
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
2
Sequence and haplotype analysis supports HLA-C as the psoriasis susceptibility 1 gene. ( 16642438 )
2006
3
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 viral process GO:0016032 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 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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