PSORS15
MCID: PSR022
MIFTS: 19

Psoriasis 15, Pustular (PSORS15)

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

Aliases & Classifications for Psoriasis 15, Pustular

MalaCards integrated aliases for Psoriasis 15, Pustular:

Name: Psoriasis 15, Pustular 57 72
Psoriasis 15, Pustular, Susceptibility to 57 29 6
Psors15 57 72
Psoriasis, Pustular, Susceptibility to, Type 15 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

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


HPO:

31
psoriasis 15, pustular:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 616106
OMIM Phenotypic Series 57 PS177900
MeSH 44 D011565
SNOMED-CT via HPO 68 263681008 87065009 9014002

Summaries for Psoriasis 15, Pustular

UniProtKB/Swiss-Prot : 72 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, also known as psoriasis 15, pustular, susceptibility to, is related to psoriasis 15. 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

More information from OMIM: 616106 PS177900

Related Diseases for Psoriasis 15, Pustular

Diseases in the Pustular Psoriasis family:

Psoriasis 14, Pustular Psoriasis 15, Pustular

Diseases related to Psoriasis 15, Pustular via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 psoriasis 15 11.0

Symptoms & Phenotypes for Psoriasis 15, Pustular

Human phenotypes related to Psoriasis 15, Pustular:

31
# Description HPO Frequency HPO Source Accession
1 nail dystrophy 31 HP:0008404
2 psoriasiform dermatitis 31 HP:0003765

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin Nails Hair Skin:
scaling
sterile pustules

Skin Nails Hair Nails:
dystrophic nails

Clinical features from OMIM®:

616106 (Updated 20-May-2021)

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 29 AP1S3

Anatomical Context for Psoriasis 15, Pustular

MalaCards organs/tissues related to Psoriasis 15, Pustular:

40
Skin

Publications for Psoriasis 15, Pustular

Articles related to Psoriasis 15, Pustular:

# Title Authors PMID Year
1
The genetic basis for most patients with pustular skin disease remains elusive. 6 57
28887889 2018
2
AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking. 6 57
24791904 2014

Variations for Psoriasis 15, Pustular

ClinVar genetic disease variations for Psoriasis 15, Pustular:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AP1S3 NM_001039569.2(AP1S3):c.97C>T (p.Arg33Trp) SNV risk factor 160375 rs138292988 GRCh37: 2:224642493-224642493
GRCh38: 2:223777776-223777776
2 AP1S3 NM_001039569.2(AP1S3):c.11T>G (p.Phe4Cys) SNV risk factor 160376 rs116107386 GRCh37: 2:224642579-224642579
GRCh38: 2:223777862-223777862

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

72
# Symbol AA change Variation ID SNP ID
1 AP1S3 p.Phe4Cys VAR_072545 rs116107386
2 AP1S3 p.Arg33Trp VAR_072549 rs138292988

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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