PSORS15
MCID: PSR022
MIFTS: 17

Psoriasis 15, Pustular (PSORS15)

Categories: Blood diseases, Bone diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Psoriasis 15, Pustular

MalaCards integrated aliases for Psoriasis 15, Pustular:

Name: Psoriasis 15, Pustular 58 76
Psoriasis 15, Pustular, Susceptibility to 58 30 6
Psors15 58 76
Psoriasis, Pustular, Susceptibility to, Type 15 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
distribution of lesions may be generalized, palmoplantar, or acral


HPO:

33
psoriasis 15, pustular:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 616106
MeSH 45 D011565
SNOMED-CT via HPO 70 263681008 87065009 9014002

Summaries for Psoriasis 15, Pustular

UniProtKB/Swiss-Prot : 76 Psoriasis 15, pustular: A form of pustular psoriasis, a life-threatening disease defined by repeated flares of sudden onset consisting of diffuse erythematous skin eruption characterized by rapid coverage with pustules, high- grade fever, asthenia, marked leukocytosis, and elevated serum levels of C-reactive protein.

MalaCards based summary : Psoriasis 15, Pustular, is also known as psoriasis 15, pustular, susceptibility to. An important gene associated with Psoriasis 15, Pustular is AP1S3 (Adaptor Related Protein Complex 1 Subunit Sigma 3). Affiliated tissues include skin, and related phenotypes are nail dystrophy and psoriasiform dermatitis

Description from OMIM: 616106

Related Diseases for Psoriasis 15, Pustular

Diseases in the Pustular Psoriasis family:

Psoriasis 14, Pustular Psoriasis 15, Pustular

Symptoms & Phenotypes for Psoriasis 15, Pustular

Human phenotypes related to Psoriasis 15, Pustular:

33
# Description HPO Frequency HPO Source Accession
1 nail dystrophy 33 HP:0008404
2 psoriasiform dermatitis 33 HP:0003765

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Nails:
dystrophic nails

Skin Nails Hair Skin:
scaling
sterile pustules

Clinical features from OMIM:

616106

Drugs & Therapeutics for Psoriasis 15, Pustular

Search Clinical Trials , NIH Clinical Center for Psoriasis 15, Pustular

Genetic Tests for Psoriasis 15, Pustular

Genetic tests related to Psoriasis 15, Pustular:

# Genetic test Affiliating Genes
1 Psoriasis 15, Pustular, Susceptibility to 30 AP1S3

Anatomical Context for Psoriasis 15, Pustular

MalaCards organs/tissues related to Psoriasis 15, Pustular:

42
Skin

Publications for Psoriasis 15, Pustular

Variations for Psoriasis 15, Pustular

UniProtKB/Swiss-Prot genetic disease variations for Psoriasis 15, Pustular:

76
# Symbol AA change Variation ID SNP ID
1 AP1S3 p.Phe4Cys VAR_072545 rs116107386
2 AP1S3 p.Arg33Trp VAR_072549 rs138292988

ClinVar genetic disease variations for Psoriasis 15, Pustular:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 AP1S3 NM_001039569.1(AP1S3): c.97C> T (p.Arg33Trp) single nucleotide variant Likely benign rs138292988 GRCh38 Chromosome 2, 223777776: 223777776
2 AP1S3 NM_001039569.1(AP1S3): c.97C> T (p.Arg33Trp) single nucleotide variant Likely benign rs138292988 GRCh37 Chromosome 2, 224642493: 224642493
3 AP1S3 NM_001039569.1(AP1S3): c.11T> G (p.Phe4Cys) single nucleotide variant risk factor rs116107386 GRCh38 Chromosome 2, 223777862: 223777862
4 AP1S3 NM_001039569.1(AP1S3): c.11T> G (p.Phe4Cys) single nucleotide variant risk factor rs116107386 GRCh37 Chromosome 2, 224642579: 224642579

Expression for Psoriasis 15, Pustular

Search GEO for disease gene expression data for Psoriasis 15, Pustular.

Pathways for Psoriasis 15, Pustular

GO Terms for Psoriasis 15, Pustular

Sources for Psoriasis 15, Pustular

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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