SLE
MCID: SYS001
MIFTS: 85

Systemic Lupus Erythematosus (SLE) malady

Genetic diseases, Immune diseases, Rare diseases, Skin diseases, Bone diseases categories

Summaries for Systemic Lupus Erythematosus

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9Disease Ontology, 4CDC, 45NINDS, 66Wikipedia, 48OMIM, 34MalaCards
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CDC:4 Systemic Lupus Erythematosus is an autoimmune disease in which the immune system produces antibodies to cells within the body leading to widespread inflammation and tissue damage. The causes of SLE are unknown but are believed to be linked to genetic, environmental, and hormonal factors. SLE may be characterized by periods of illness and remissions. SLE has a variety of clinical manifestations and can affect joints, skin, brain, lungs, kidneys, and blood vessels. People with SLE may experience fatigue, pain or swelling in joints, skin rashes, and fevers. A team approach in treating lupus is often warranted due to the number of organ systems involved.

MalaCards: Systemic Lupus Erythematosus, also known as lupus erythematosus, systemic, is related to lupus erythematosus and arthritis. An important gene associated with Systemic Lupus Erythematosus is TLR5 (toll-like receptor 5), and among its related pathways are Leishmaniasis and Toll-like receptor signaling pathway. The drugs azathioprine and cyclosporine and the compounds agarose and anaphylatoxin have been mentioned in the context of this disorder. Affiliated tissues include t cells, skin and kidney, and related mouse phenotypes are renal/urinary system and liver/biliary system.

Disease Ontology:9 A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.

NINDS:45 Lupus (also called ) is a disorder of the immune system. Normally, the immune system protects the body against invading infections and cancers. In lupus, the immune system is over-active and produces increased amounts of abnormal antibodies that attack the body's tissues and organs. Lupus can affect many parts of the body, including the joints, skin, kidneys, lungs, heart, nervous system, and blood vessels. The signs and symptoms of lupus differ from person to person; the disease can range from mild to life threatening.

Wikipedia:66 Systemic lupus erythematosus i/s??st?m?k ?lu?p?s ??r??i?m??to?s?s/, often abbreviated as SLE or lupus,... more...

Description from OMIM:48 152700,601744

Aliases & Classifications for Systemic Lupus Erythematosus

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9Disease Ontology, 22Genetics Home Reference, 45NINDS, 48OMIM, 11DISEASES, 32LifeMap Discoveryā„¢, 23GTR, 63UMLS, 46Novoseek, 41NCIt, 59SNOMED-CT, 36MeSH, 28ICD9CM, 26ICD10
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Classifications:



Aliases & Descriptions:

systemic lupus erythematosus 9 22 45 48 11 32
lupus erythematosus, systemic 9 23 63
disseminated lupus erythematosus 9 22
sle - lupus erythematosus, systemic 9
lupus erythematosus systemic 46
libman-sacks disease 22
le syndrome 22
lupus 22
sle 22


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Disease Ontology9 DOID:9074
NCIt41 C3201
MeSH36 D008180
ICD9CM28 710.0
OMIM48 152700
ICD1026 M32, M32.1

Related Diseases for Systemic Lupus Erythematosus

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18GeneCards, 19GeneDecks
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Diseases in the Systemic Lupus Erythematosus family:

Lupus Erythematosus Dnase1-Related Susceptibility to Systemic Lupus Erythematosus
Cr2-Related Susceptibility to Systemic Lupus Erythematosus Systemic Lupus Erythematosus 14
Systemic Lupus Erythematosus 9 Systemic Lupus Erythematosus 1
Systemic Lupus Erythematosus 2 Systemic Lupus Erythematosus 16
Systemic Lupus Erythematosus 3 Systemic Lupus Erythematosus 13
Systemic Lupus Erythematosus 10 Systemic Lupus Erythematosus 12
Systemic Lupus Erythematosus 4 Systemic Lupus Erythematosus 5
Systemic Lupus Erythematosus 7 Systemic Lupus Erythematosus 8

Diseases related to Systemic Lupus Erythematosus via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 933)
idRelated DiseaseScoreTop Affiliating Genes
1lupus erythematosus33.1TREX1, C4A, C3, DNASE1, FCGR2B
2arthritis32.0PTPN22, C3, FCGR2B
3rheumatoid arthritis32.0STAT4, PDCD1, PTPN22, FCGR2B, C3
4connective tissue disease31.5TREX1, DNASE1, FCGR2B, PTPN22, C3
5multiple sclerosis31.1C4B, PDCD1, STAT4, PTPN22
6complement deficiency31.1C4A, C3
7type 1 diabetes mellitus30.7PTPN22, C3, C4A, PDCD1
8sepsis30.7C3, TLR5, C4A
9vitiligo30.5C4B, PTPN22
10burkitt's lymphoma30.3CR2, STAT4, FCGR2B, DNASE1, PDCD1
11inflammatory bowel disease30.3STAT4, TLR5, PTPN22
12pediatric systemic lupus erythematosus11.1
13antiphospholipid syndrome11.0
14nephritis11.0
15systemic lupus erythematosus, association with11.0
16bullous systemic lupus erythematosus11.0
17endotheliitis11.0
18vasculitis10.9
19myelitis10.9
20lupus nephritis10.9
21protein-losing enteropathy10.9
22atherosclerosis10.9
23mixed connective tissue disease10.9
24purpura10.9
25scleroderma10.9
26transverse myelitis10.9
27cerebritis10.8
28glomerulonephritis10.8
29hypertension10.8
30retinitis10.8
31hepatitis10.8
32thrombocytopenia10.8
33discoid lupus erythematosus10.8
34lymphopenia10.8
35thyroiditis10.8
36thrombotic thrombocytopenic purpura10.7
37klinefelter's syndrome10.7
38pure red-cell aplasia10.7
39dermatomyositis10.7
40cutaneous lupus erythematosus10.7
41intestinal pseudo-obstruction10.7
42meningitis10.7
43tuberculosis10.7
44cardiac tamponade10.7
45congenital heart block10.7
46nervous system disease10.7
47pneumonia10.7
48vascular disease10.7
49aneurysm10.7
50c1q deficiency10.7

Graphical network of the top 20 diseases related to Systemic Lupus Erythematosus:



Diseases related to systemic lupus erythematosus

Symptoms for Systemic Lupus Erythematosus

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48OMIM
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Symptoms by clinical synopsis from OMIM:

152700

Clinical features from OMIM:

152700,601744

Drugs & Therapeutics for Systemic Lupus Erythematosus

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 32LifeMap Discoveryā„¢, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Systemic Lupus Erythematosus

Search NIH Clinical Center for Systemic Lupus Erythematosus

Search CenterWatch for Systemic Lupus Erythematosus

Inferred drug relations via UMLS63/NDF-RT42:

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Systemic Lupus Erythematosus cell therapies at LifeMap Discovery.

Genetic Tests for Systemic Lupus Erythematosus

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23GTR
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Genetic tests related to Systemic Lupus Erythematosus:

id Genetic test Affiliating Genes
1 Systemic Lupus Erythematosus23

Anatomical Context for Systemic Lupus Erythematosus

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32LifeMap Discoveryā„¢, 34MalaCards
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MalaCards organs/tissues related to Systemic Lupus Erythematosus:

34
T cells, Skin, Kidney, B cells, Heart, Lung, Endothelial, Brain, Monocytes, Bone, Thyroid, Liver, Testes, Bone marrow, Breast, Pituitary, Whole blood, Spleen, Nk cells, Myeloid, Colon, Spinal cord, Placenta, Prostate, Uterus, Skeletal muscle, Eye, Temporal lobe, Salivary gland, Smooth muscle

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Systemic Lupus Erythematosus:
id TissueAnatomical CompartmentCell Relevance
1 Umbilical CordWharton's JellyMesenchymal Stem Cells Potential therapeutic candidate

Animal Models for Systemic Lupus Erythematosus or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Systemic Lupus Erythematosus:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000536710.5TREX1, PTPN22, FCGR2B, STAT4, DNASE1, C3
2MP:000537010.4TLR5, PTPN22, FCGR2B, C3, PDCD1, C4B
3MP:000539710.4TLR5, PTPN22, FCGR2B, STAT4, DNASE1, C3
4MP:000538710.4STAT4, FCGR2B, PTPN22, TLR5, DNASE1, C3
5MP:000537610.4TLR5, PTPN22, FCGR2B, STAT4, DNASE1, C3
6MP:000538110.4TLR5, PTPN22, FCGR2B, C3, C4B, TREX1
7MP:000537910.4PTPN22, FCGR2B, STAT4, C3, PDCD1, TLR5
8MP:000538510.2TLR5, PTPN22, FCGR2B, C3, PDCD1, C4B
9MP:001076810.0PTPN22, FCGR2B, STAT4, DNASE1, C3, PDCD1

Publications for Systemic Lupus Erythematosus

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53PubMed
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Articles related to Systemic Lupus Erythematosus:

(show top 50)    (show all 4329)
idTitleAuthorsYear
1
T lymphocyte apoptosis in systemic lupus erythematosus patients. (24106599)
2013
2
Vitamin d deficiency and systemic lupus erythematosus: cause or consequence? (23904929)
2013
3
Association of RANTES and MBL gene polymorphisms with systemic lupus erythematosus: a meta-analysis. (23065234)
2013
4
Factors that determine body composition of female systemic lupus erythematosus (SLE) patients in Sri Lanka: a comparative study using dual-energy x-ray absorptiometry. (23861026)
2013
5
Diffuse dystrophic calcinosis cutis of the scalp in a patient with scalp discoid lupus erythematosus and systemic lupus erythematosus. (23426499)
2013
6
Neutrophil-Mediated IFN Activation in the Bone Marrow Alters B Cell Development in Human and Murine Systemic Lupus Erythematosus. (24379124)
2013
7
Irritable bowel syndrome-type symptoms in female patients with mild systemic lupus erythematosus: frequency, related factors and quality of life. (24112121)
2013
8
Rituximab-induced serum sickness in overlapping syndrome between sjAPgren syndrome and systemic lupus erythematosus. (23965477)
2013
9
Elevated norepinephrine may be an etiological factor in a wide range of diseases: age-related macular degeneration, systemic lupus erythematosus, atrial fibrillation, metabolic syndrome. (23410497)
2013
10
Polimorphisms in inflammasome genes are involved in the predisposition to systemic lupus erythematosus. (22235789)
2012
11
Splenic infarction, warm autoimmune hemolytic anemia and antiphospholipid antibodies associated with systemic lupus erythematosus. (22623174)
2012
12
Elevation of human tumor necrosis factor-like weak inducer of apoptosis in peripheral blood mononuclear cells is correlated with disease activity and lupus nephritis in patients with systemic lupus erythematosus. (21163672)
2011
13
Study of the common genetic background for rheumatoid arthritis and systemic lupus erythematosus. (21068098)
2011
14
Extragonadal germ cell tumor presenting in a woman with systemic lupus erythematosus: a case report. (20338049)
2010
15
Systemic lupus erythematosus patients have increased number of circulating plasmacytoid dendritic cells, but decreased myeloid dendritic cells with deficient CD83 expression. (18625638)
2008
16
Longitudinal myelitis, aseptic meningitis, and conus medullaris infarction as presenting manifestations of pediatric systemic lupus erythematosus. (18413416)
2008
17
CD8+CD28-, suppressive T cells in systemic lupus erythematosus. (18625635)
2008
18
HLA-DRB1 alleles in juvenile-onset systemic lupus erythematosus: renal histologic class correlations. (17401504)
2007
19
Preliminary clinical measurement of the expression of B-cell activating factor in Chinese systemic lupus erythematosus patients. (17506477)
2007
20
Circulating proangiogenic molecules PIGF, SDF-1 and sVCAM-1 in patients with systemic lupus erythematosus. (17964973)
2007
21
Effect of dsDNA binding to SmD-derived peptides on clinical accuracy in the diagnosis of systemic lupus erythematosus. (17640359)
2007
22
CRP and the disposal of dying cells: consequences for systemic lupus erythematosus and rheumatoid arthritis. (17516213)
2007
23
Effect of prolactin on CD40/CD154 expression on peripheral blood mononuclear cells in patients with systemic lupus erythematosus]. (17884785)
2007
24
C-Reactive protein and its implications in systemic lupus erythematosus. (18159197)
2007
25
Influence of alleles and haplotypes of the main histocompatibility complex on the susceptibility to systemic lupus erythematosus in the Mexican population]. (16875346)
2006
26
Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus. (15657875)
2005
27
Peripheral neuropathy in pediatric systemic lupus erythematosus. (12770683)
2003
28
The A/T mutation in exon 2 of the DNASE1 gene is not present in Tunisian patients with systemic lupus erythematosus or in healthy subjects. (14613299)
2003
29
TAP1 and TAP2 polymorphisms analysis in northwestern Colombian patients with systemic lupus erythematosus. (12634240)
2003
30
Visualizing human leukocyte antigen class II risk haplotypes in human systemic lupus erythematosus. (12145745)
2002
31
Coronary artery disease in systemic lupus erythematosus: A review of the literature. (11404827)
2001
32
Serum levels of angiogenic cytokines in systemic lupus erythematosus and their correlation with disease activity. (11566625)
2001
33
Hypercalcaemia in systemic lupus erythematosus. (11346230)
2001
34
Nocardiosis in patients with systemic lupus erythematosus. The Singapore Lupus Study Group. (10813308)
2000
35
Chronic intestinal pseudo-obstruction in systemic lupus erythematosus due to intestinal smooth muscle myopathy. (10981652)
2000
36
Cytotoxic T lymphocyte antigen 4 (CTLA-4) dimorphism in patients with systemic lupus erythematosus. (10609073)
1999
37
Systemic lupus erythematosus-associated catastrophic antiphospholipid syndrome occurring after typhoid fever: a possible role of Salmonella lipopolysaccharide in the occurrence of diffuse vasculopathy-coagulopathy. (10323464)
1999
38
Reduced purine 5'-nucleotidase activity in lymphocytes of patients with systemic lupus erythematosus: results of a pilot study. (10343529)
1999
39
Echocardiography in systemic lupus erythematosus. (9863896)
1998
40
Anti-A2/RA33 autoantibodies are directed to the RNA binding region of the A2 protein of the heterogeneous nuclear ribonucleoprotein complex. Differential epitope recognition in rheumatoid arthritis, systemic lupus erythematosus, and mixed connective tissue disease. (9202064)
1997
41
Human parvovirus infection: rheumatic manifestations, angioedema, C1 esterase inhibitor deficiency, ANA positivity, and possible onset of systemic lupus erythematosus. (8823689)
1996
42
Elevated soluble CD27 levels in serum of patients with systemic lupus erythematosus. (8938100)
1996
43
Population and family studies of three disease-related polymorphic genes in systemic lupus erythematosus. (7706484)
1995
44
Distinguishing beta 2-glycoprotein I dependent (systemic lupus erythematosus type) and independent (syphilis type) anticardiolipin antibody with Tween 20. (7918046)
1993
45
Lack of association between anticardiolipin antibodies and migraine in systemic lupus erythematosus. (1549239)
1992
46
Activation markers on peripheral blood T cells from patients with active or inactive systemic lupus erythematosus. Correlation with proliferative responses and production of IL-2. (1812897)
1991
47
Systemic lupus erythematosus and miliary tuberculosis in a prepubertal girl--a case report. (2152059)
1990
48
Plasma lactoferrin and neutrophil elastase in rheumatoid arthritis and systemic lupus erythematosus. (2306568)
1990
49
Possible association between anti-Ro antibodies and myocarditis or cardiac conduction defects in adults with systemic lupus erythematosus. (2396870)
1990
50
Studies of peritoneal macrophage function in murine systemic lupus erythematosus. 2. Nature of elevated resident peritoneal cells in NZB and (NZB x NZW)F1 mice. (3861745)
1985

Variations for Systemic Lupus Erythematosus

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Systemic Lupus Erythematosus:

65
id Symbol AA change Variation ID SNP ID
1TREX1p.Arg169HisVAR_028319
2TREX1p.Ala213ValVAR_037949
3TREX1p.Gly282SerVAR_037950rs113107733
4TREX1p.Arg295SerVAR_037951rs72556555
5TREX1p.Ala302ProVAR_037952rs112741962
6TREX1p.Pro345LeuVAR_037954
7TREX1p.Tyr360CysVAR_037955
8TREX1p.Gly361AlaVAR_037956
9TREX1p.Asp255HisVAR_070901

Clinvar genetic disease variations for Systemic Lupus Erythematosus:

1
id Gene Name Type Significance SNP ID Assembly Location
1TREX1NM_016381.5(TREX1): c.506G> A (p.Arg169His)single nucleotide variantPathogenic, risk factorrs72556554GRCh37Chr 3, 48508395: 48508395

Expression for genes affiliated with Systemic Lupus Erythematosus

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Systemic Lupus Erythematosus

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

Pathways for genes affiliated with Systemic Lupus Erythematosus

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51PathCards, 31KEGG, 39NCBI BioSystems Database, 54QIAGEN, 61Thomson Reuters, 56Reactome, 58SinoBiological
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Pathways related to Systemic Lupus Erythematosus according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
10.4C3, STAT4, TLR5
2
Show member pathways
Toll-like receptor signaling pathway39
Regulation of toll-like receptor signaling pathway39
10.4C3, STAT4, TLR5
310.4BANK1, CR2, FCGR2B
4
Show member pathways
BCR signaling pathway39
TCR Signaling Pathway39
10.4CR2, PDCD1, FCGR2B
5
Show member pathways
10.4FCGR2B, STAT4, CR2, TLR5
610.4C4B, C3, C4A
710.4C4B, C4A, C3, FCGR2B
8
Show member pathways
Complement Activation, Classical Pathway39
Complement and Coagulation Cascades39
10.4C4A, C3, CR2, C4B
9
Show member pathways
Immune response Alternative complement pathway61
Immune response Lectin Induced complement pathway61
Immune response Classic complement pathway61
10.4C4B, C4A, CR2, C3

Compounds for genes affiliated with Systemic Lupus Erythematosus

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46Novoseek
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Compounds related to Systemic Lupus Erythematosus according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1agarose4610.5DNASE1, C3, C4A, C4B
2anaphylatoxin4610.4C4A, C3
3serine4610.4CR2, STAT4, DNASE1, C3, C4A, C4B
4phosphatidylinositol4610.4C3, STAT4, TLR5, CR2, FCGR2B
5aurintricarboxylic acid4610.3DNASE1L3, DNASE1
6tyrosine4610.1TLR5, PTPN22, FCGR2B, STAT4, PDCD1, CR2

GO Terms for genes affiliated with Systemic Lupus Erythematosus

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17Gene Ontology
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Cellular components related to Systemic Lupus Erythematosus according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1blood microparticleGO:07256210.4C4B, C4A, C3

Biological processes related to Systemic Lupus Erythematosus according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1complement activation, classical pathwayGO:00695810.5CR2, C4A, C4B, C3
2regulation of complement activationGO:03044910.5C4A, C4B, C3
3DNA metabolic processGO:00625910.4DNASE1L3, TREX1
4innate immune responseGO:04508710.3C4B, TREX1, C4A, CR2, C3, TLR5
5complement activationGO:00695610.3C3, C4A, C4B
6inflammatory responseGO:00695410.1C4B, C4A, C3, TLR5

Molecular functions related to Systemic Lupus Erythematosus according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endopeptidase inhibitor activityGO:00486610.4C4B, C4A, C3

Products for genes affiliated with Systemic Lupus Erythematosus

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Sources for Systemic Lupus Erythematosus

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet