SLEB10
MCID: SYS040
MIFTS: 21

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 57 72 29 6
Systemic Lupus Erythematosus, Susceptibility to, 10 57 13
Sleb10 57 72
Lupus Erythematosus, Systemic, Type 10 39

Classifications:



External Ids:

OMIM® 57 612251
MeSH 44 D008180
MedGen 41 C2677097

Summaries for Systemic Lupus Erythematosus 10

UniProtKB/Swiss-Prot : 72 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 bone marrow and kidney.

More information from OMIM: 612251

Related Diseases for Systemic Lupus Erythematosus 10

Symptoms & Phenotypes for Systemic Lupus Erythematosus 10

Clinical features from OMIM®:

612251 (Updated 05-Apr-2021)

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 29 IRF5

Anatomical Context for Systemic Lupus Erythematosus 10

MalaCards organs/tissues related to Systemic Lupus Erythematosus 10:

40
Bone Marrow, Kidney

Publications for Systemic Lupus Erythematosus 10

Articles related to Systemic Lupus Erythematosus 10:

(show all 29)
# Title Authors PMID Year
1
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. 57 6
18063667 2008
2
Association of IRF5 in UK SLE families identifies a variant involved in polyadenylation. 6 57
17189288 2007
3
A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus. 57 6
16642019 2006
4
Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus. 6 57
15657875 2005
5
A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. 57
19838195 2009
6
Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus. 57
19838193 2009
7
An insertion-deletion polymorphism in the interferon regulatory Factor 5 (IRF5) gene confers risk of inflammatory bowel diseases. 6
17881657 2007
8
Association of a haplotype in the promoter region of the interferon regulatory factor 5 gene with rheumatoid arthritis. 6
17599733 2007
9
Genetic association of IRF5 with SLE in Mexicans: higher frequency of the risk haplotype and its homozygozity than Europeans. 57
17476532 2007
10
Genetic analysis of genome-wide variation in human gene expression. 57
15269782 2004
11
Subjective and Objective Measurements of Sinonasal Manifestations in Patients With Autoimmune Disorders. 61
32324298 2021
12
COVID-19 in children treated with immunosuppressive medication for kidney diseases. 61
33355203 2020
13
Prevalence and Clinical Impact of Systemic Autoimmune Rheumatic Disease in Patients with Silicosis. 61
32493645 2020
14
Kikuchi-Fujimoto disease in children. 61
31576642 2020
15
Prevalence of other connective tissue diseases in idiopathic inflammatory myopathies. 61
31385080 2019
16
Association Between Black Race and Presentation and Liver-Related Outcomes of Patients With Autoimmune Hepatitis. 61
30471454 2019
17
Clinical, histological, immunological presentations and outcomes of bullous systemic lupus erythematosus: 10 New cases and a literature review of 118 cases. 61
29191376 2018
18
Extensive calcinosis cutis universalis in a patient with systemic lupus erythematosus: 10-year treatment experience. 61
25476103 2014
19
Tear cathepsin S as a candidate biomarker for Sjögren's syndrome. 61
24644101 2014
20
Progressive multifocal leukoencephalopathy associated with immunosuppressive therapy in rheumatic diseases: evolving role of biologic therapies. 61
22422012 2012
21
Risk of pulmonary embolism in patients with autoimmune disorders: a nationwide follow-up study from Sweden. 61
22119579 2012
22
Left ventricular myocardial ischemia in collagen disease associated with pulmonary hypertension: an evaluation by rest-stress gated SPECT and coronary angiography. 61
21597395 2011
23
Spontaneous repair of asymptomatic osteonecrosis associated with corticosteroid therapy in systemic lupus erythematosus: 10-year minimum follow-up with MRI. 61
20605878 2010
24
TP53 gene mutation, an unfavorable prognostic factor for malignant lymphomas in autoimmune diseases. 61
16131817 2005
25
Identification of cytokeratin 18 as a bronchial epithelial autoantigen associated with nonallergic asthma. 61
12045129 2002
26
The lupus anticoagulant. High incidence of 'negative' mixing studies in a human immunodeficiency virus-positive population. 61
8503730 1993
27
[Determination of circulating immune complexes and of their component immunoglobulin classes M, G, and A with a C1q-ELISA]. 61
2063729 1991
28
Complement deficiency states and infection: epidemiology, pathogenesis and consequences of neisserial and other infections in an immune deficiency. 61
6433145 1984
29
[Changes in the pulmonary artery in collagen diseases]. 61
34380 1979

Variations for Systemic Lupus Erythematosus 10

ClinVar genetic disease variations for Systemic Lupus Erythematosus 10:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IRF5 IRF5, 5-BP INS, PROMOTER REGION Insertion risk factor 3395 GRCh37:
GRCh38:
2 IRF5 NM_001098629.3(IRF5):c.*555G>A SNV risk factor 3397 rs10954213 GRCh37: 7:128589427-128589427
GRCh38: 7:128949373-128949373
3 IRF5 NM_001098629.3(IRF5):c.-12+198= SNV risk factor 3396 rs2004640 GRCh37: 7:128578301-128578301
GRCh38: 7:128938247-128938247

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
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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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