MCID: PSR022
MIFTS: 17

Psoriasis 15, Pustular

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

Aliases & Classifications for Psoriasis 15, Pustular

MalaCards integrated aliases for Psoriasis 15, Pustular:

Name: Psoriasis 15, Pustular 57 75
Psoriasis 15, Pustular, Susceptibility to 57 29 6
Psors15 57 75
Psoriasis, Pustular, Susceptibility to, Type 15 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
psoriasis 15, pustular:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 616106
MeSH 44 D011565
SNOMED-CT via HPO 69 263681008 9014002 87065009

Summaries for Psoriasis 15, Pustular

UniProtKB/Swiss-Prot : 75 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 psoriasiform dermatitis and nail dystrophy

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

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
sterile pustules
scaling

Skin Nails Hair Nails:
dystrophic nails


Clinical features from OMIM:

616106

Human phenotypes related to Psoriasis 15, Pustular:

32
# Description HPO Frequency HPO Source Accession
1 psoriasiform dermatitis 32 HP:0003765
2 nail dystrophy 32 HP:0008404

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:

41
Skin

Publications for Psoriasis 15, Pustular

Variations for Psoriasis 15, Pustular

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

75
# 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 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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