SLEB10
MCID: SYS040
MIFTS: 20

Systemic Lupus Erythematosus 10 (SLEB10)

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

Aliases & Classifications for Systemic Lupus Erythematosus 10

MalaCards integrated aliases for Systemic Lupus Erythematosus 10:

Name: Systemic Lupus Erythematosus 10 58 76 30 6
Systemic Lupus Erythematosus, Susceptibility to, 10 58 13
Sleb10 58 76
Lupus Erythematosus, Systemic, Type 10 41

Classifications:



External Ids:

OMIM 58 612251
MeSH 45 D008180
MedGen 43 C2677097

Summaries for Systemic Lupus Erythematosus 10

UniProtKB/Swiss-Prot : 76 Systemic lupus erythematosus 10: A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow.

MalaCards based summary : Systemic Lupus Erythematosus 10, also known as systemic lupus erythematosus, susceptibility to, 10, is related to systemic lupus erythematosus and lupus erythematosus. An important gene associated with Systemic Lupus Erythematosus 10 is IRF5 (Interferon Regulatory Factor 5). Affiliated tissues include skin, kidney and bone marrow.

Description from OMIM: 612251

Related Diseases for Systemic Lupus Erythematosus 10

Symptoms & Phenotypes for Systemic Lupus Erythematosus 10

Clinical features from OMIM:

612251

Drugs & Therapeutics for Systemic Lupus Erythematosus 10

Search Clinical Trials , NIH Clinical Center for Systemic Lupus Erythematosus 10

Genetic Tests for Systemic Lupus Erythematosus 10

Genetic tests related to Systemic Lupus Erythematosus 10:

# Genetic test Affiliating Genes
1 Systemic Lupus Erythematosus 10 30 IRF5

Anatomical Context for Systemic Lupus Erythematosus 10

MalaCards organs/tissues related to Systemic Lupus Erythematosus 10:

42
Skin, Kidney, Bone Marrow

Publications for Systemic Lupus Erythematosus 10

Articles related to Systemic Lupus Erythematosus 10:

# Title Authors Year
1
Clinical, histological, immunological presentations and outcomes of bullous systemic lupus erythematosus: 10 New cases and a literature review of 118 cases. ( 29191376 )
2018
2
Extensive calcinosis cutis universalis in a patient with systemic lupus erythematosus: 10-year treatment experience. ( 25476103 )
2014
3
Spontaneous repair of asymptomatic osteonecrosis associated with corticosteroid therapy in systemic lupus erythematosus: 10-year minimum follow-up with MRI. ( 20605878 )
2010
4
Comprehensive evaluation of the genetic variants of interferon regulatory factor 5 (IRF5) reveals a novel 5 bp length polymorphism as strong risk factor for systemic lupus erythematosus. ( 18063667 )
2008
5
An insertion-deletion polymorphism in the interferon regulatory Factor 5 (IRF5) gene confers risk of inflammatory bowel diseases. ( 17881657 )
2007
6
Association of a haplotype in the promoter region of the interferon regulatory factor 5 gene with rheumatoid arthritis. ( 17599733 )
2007
7
Association of IRF5 in UK SLE families identifies a variant involved in polyadenylation. ( 17189288 )
2007
8
A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus. ( 16642019 )
2006
9
Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus. ( 15657875 )
2005

Variations for Systemic Lupus Erythematosus 10

ClinVar genetic disease variations for Systemic Lupus Erythematosus 10:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 IRF5 IRF5, 5-BP INS, PROMOTER REGION insertion risk factor
2 IRF5 NM_001098629.2(IRF5): c.-12+198G> T single nucleotide variant association rs2004640 GRCh37 Chromosome 7, 128578301: 128578301
3 IRF5 NM_001098629.2(IRF5): c.-12+198G> T single nucleotide variant association rs2004640 GRCh38 Chromosome 7, 128938247: 128938247
4 IRF5 NM_001098629.2(IRF5): c.*555G> A single nucleotide variant risk factor rs10954213 GRCh37 Chromosome 7, 128589427: 128589427
5 IRF5 NM_001098629.2(IRF5): c.*555G> A single nucleotide variant risk factor rs10954213 GRCh38 Chromosome 7, 128949373: 128949373

Expression for Systemic Lupus Erythematosus 10

Search GEO for disease gene expression data for Systemic Lupus Erythematosus 10.

Pathways for Systemic Lupus Erythematosus 10

GO Terms for Systemic Lupus Erythematosus 10

Sources for Systemic Lupus Erythematosus 10

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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