SLE
MCID: SYS001
MIFTS: 88

Systemic Lupus Erythematosus (SLE) malady

Genetic diseases, Immune diseases, Rare diseases, Skin diseases, Bone diseases categories
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Summaries for Systemic Lupus Erythematosus

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CDC:3 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 based summary: Systemic Lupus Erythematosus, also known as disseminated lupus erythematosus, is related to lupus erythematosus and arthritis, and has symptoms including 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 dehydroepiandrosterone and triamcinolone 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:8 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.

Genetics Home Reference:21 Systemic lupus erythematosus (SLE) is a chronic disease that causes inflammation in connective tissues, such as cartilage and the lining of blood vessels, which provide strength and flexibility to structures throughout the body. The signs and symptoms of SLE vary among affected individuals, and can involve many organs and systems, including the skin, joints, kidneys, lungs, central nervous system, and blood-forming (hematopoietic) system. SLE is one of a large group of conditions called autoimmune disorders that occur when the immune system attacks the body's own tissues and organs.

NINDS:43 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:65 Systemic lupus erythematosus i/s??st?m?k ?lu?p?s ??r??i?m??to?s?s/, often abbreviated as SLE or lupus,... more...

Descriptions from OMIM:46 152700,601744

Aliases & Classifications for Systemic Lupus Erythematosus

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Systemic Lupus Erythematosus, Aliases & Descriptions:

Name: Systemic Lupus Erythematosus 30 8 21 43 46 10
Disseminated Lupus Erythematosus 8 21 62
Lupus Erythematosus, Systemic 8 22 62
Libman-Sacks Disease 21 62
Le Syndrome 21 62
 
Lupus 21 62
Sle - Lupus Erythematosus, Systemic 8
Lupus Erythematosus Systemic 44
Sle Nos 62
Sle 21


Classifications:



External Ids:

Disease Ontology8 DOID:9074
NCIt39 C3201
ICD9CM27 710.0
OMIM46 152700
MeSH34 D008180
ICD1025 M32, M32.1

Related Diseases for Systemic Lupus Erythematosus

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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 957)
idRelated DiseaseScoreTop Affiliating Genes
1lupus erythematosus33.7TREX1, C4A, C3, DNASE1, FCGR2B
2arthritis32.6PTPN22, C3, FCGR2B
3rheumatoid arthritis32.6STAT4, PDCD1, PTPN22, FCGR2B, C3
4connective tissue disease32.1TREX1, DNASE1, FCGR2B, PTPN22, C3
5multiple sclerosis31.8C4B, PDCD1, STAT4, PTPN22
6complement deficiency31.7C4A, C3
7type 1 diabetes mellitus31.3PTPN22, C3, C4A, PDCD1
8sepsis31.2C3, TLR5, C4A
9burkitt's lymphoma30.9CR2, STAT4, FCGR2B, DNASE1, PDCD1
10vitiligo30.9C4B, PTPN22
11inflammatory bowel disease30.8STAT4, TLR5, PTPN22
12pediatric systemic lupus erythematosus11.1
13nephritis11.1
14antiphospholipid syndrome11.1
15bullous systemic lupus erythematosus11.0
16systemic lupus erythematosus, association with11.0
17myelitis11.0
18endotheliitis11.0
19vasculitis11.0
20lupus nephritis11.0
21atherosclerosis10.9
22protein-losing enteropathy10.9
23transverse myelitis10.9
24mixed connective tissue disease10.9
25purpura10.9
26scleroderma10.9
27glomerulonephritis10.9
28cerebritis10.9
29hypertension10.9
30hepatitis10.8
31retinitis10.8
32lymphopenia10.8
33thyroiditis10.8
34thrombocytopenia10.8
35discoid lupus erythematosus10.8
36thrombotic thrombocytopenic purpura10.8
37klinefelter's syndrome10.8
38pure red-cell aplasia10.7
39dermatomyositis10.7
40diffuse alveolar hemorrhage10.7
41intestinal pseudo-obstruction10.7
42cutaneous lupus erythematosus10.7
43aneurysm10.7
44cardiac tamponade10.7
45meningitis10.7
46pneumonia10.7
47tuberculosis10.7
48congenital heart block10.7
49myocardial infarction10.7
50arthropathy10.7

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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Symptoms by clinical synopsis from OMIM:

152700

Clinical features from OMIM:

152700,601744

HPO human phenotypes related to Systemic Lupus Erythematosus:

(show all 14)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 nephritis HP:0000123
3 psychosis HP:0000709
4 cutaneous photosensitivity HP:0000992
5 seizures HP:0001250
6 arthritis HP:0001369
7 pericarditis HP:0001701
8 thrombocytopenia HP:0001873
9 hemolytic anemia HP:0001878
10 leukopenia HP:0001882
11 pleuritis HP:0002102
12 systemic lupus erythematosus HP:0002725
13 antinuclear antibody positivity HP:0003493
14 antiphospholipid antibody positivity HP:0003613

Drugs & Therapeutics for Systemic Lupus Erythematosus

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Drug clinical trials:

Search ClinicalTrials for Systemic Lupus Erythematosus

Search NIH Clinical Center for Systemic Lupus Erythematosus

Inferred drug relations via UMLS62/NDF-RT40:

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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Genetic tests related to Systemic Lupus Erythematosus:

id Genetic test Affiliating Genes
1 Systemic Lupus Erythematosus22

Anatomical Context for Systemic Lupus Erythematosus

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MalaCards organs/tissues related to Systemic Lupus Erythematosus:

32
T cells, Skin, Kidney, B cells, Lung, Heart, Endothelial, Brain, Neutrophil, Monocytes, Bone, Thyroid, Liver, Testes, Bone marrow, Breast, Pituitary, Myeloid, Whole blood, Spleen, Nk cells, Spinal cord, Placenta, Eye, Skeletal muscle, Colon, Salivary gland, Uterus, Prostate, Temporal lobe, Pineal, 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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MGI Mouse Phenotypes related to Systemic Lupus Erythematosus:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000536710.5C3, FCGR2B, STAT4, DNASE1, PTPN22, PDCD1
2MP:000537010.4PTPN22, TLR5, C4B, TREX1, PDCD1, C3
3MP:000539710.4TLR5, TREX1, FCGR2B, PTPN22, STAT4, DNASE1
4MP:000538710.4C4B, BANK1, CR2, PDCD1, C3, DNASE1
5MP:000537610.4DNASE1, FCGR2B, TREX1, C4B, CR2, C3
6MP:000538110.4TLR5, FCGR2B, C3, C4B, TREX1, PTPN22
7MP:000537910.4C3, FCGR2B, PTPN22, TLR5, PDCD1, STAT4
8MP:000538510.2C4B, C3, TLR5, TREX1, PTPN22, FCGR2B
9MP:001076810.0C4B, TREX1, PDCD1, C3, CR2, PTPN22

Publications for Systemic Lupus Erythematosus

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Articles related to Systemic Lupus Erythematosus:

(show top 50)    (show all 4470)
idTitleAuthorsYear
1
Active systemic lupus erythematosus is associated with a reduced cytokine production by B cells in response to TLR9 stimulation. (25385499)
2014
2
T lymphocyte apoptosis in systemic lupus erythematosus patients. (24106599)
2013
3
Vitamin d deficiency and systemic lupus erythematosus: cause or consequence? (23904929)
2013
4
Association of RANTES and MBL gene polymorphisms with systemic lupus erythematosus: a meta-analysis. (23065234)
2013
5
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
6
Diffuse dystrophic calcinosis cutis of the scalp in a patient with scalp discoid lupus erythematosus and systemic lupus erythematosus. (23426499)
2013
7
Neutrophil-Mediated IFN Activation in the Bone Marrow Alters B Cell Development in Human and Murine Systemic Lupus Erythematosus. (24379124)
2013
8
Irritable bowel syndrome-type symptoms in female patients with mild systemic lupus erythematosus: frequency, related factors and quality of life. (24112121)
2013
9
Rituximab-induced serum sickness in overlapping syndrome between sjAPgren syndrome and systemic lupus erythematosus. (23965477)
2013
10
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
11
Lack of association between IL-23R gene polymorphisms and systemic lupus erythematosus in a Chinese population. (23754344)
2013
12
Serum levels of transforming growth factor-I^1 (TGF-I^1) in patients with systemic lupus erythematosus and Hashimoto's thyroiditis. (23614931)
2013
13
Polimorphisms in inflammasome genes are involved in the predisposition to systemic lupus erythematosus. (22235789)
2012
14
Splenic infarction, warm autoimmune hemolytic anemia and antiphospholipid antibodies associated with systemic lupus erythematosus. (22623174)
2012
15
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
16
Study of the common genetic background for rheumatoid arthritis and systemic lupus erythematosus. (21068098)
2011
17
Extragonadal germ cell tumor presenting in a woman with systemic lupus erythematosus: a case report. (20338049)
2010
18
Systemic lupus erythematosus patients have increased number of circulating plasmacytoid dendritic cells, but decreased myeloid dendritic cells with deficient CD83 expression. (18625638)
2008
19
Longitudinal myelitis, aseptic meningitis, and conus medullaris infarction as presenting manifestations of pediatric systemic lupus erythematosus. (18413416)
2008
20
CD8+CD28-, suppressive T cells in systemic lupus erythematosus. (18625635)
2008
21
HLA-DRB1 alleles in juvenile-onset systemic lupus erythematosus: renal histologic class correlations. (17401504)
2007
22
Preliminary clinical measurement of the expression of B-cell activating factor in Chinese systemic lupus erythematosus patients. (17506477)
2007
23
Circulating proangiogenic molecules PIGF, SDF-1 and sVCAM-1 in patients with systemic lupus erythematosus. (17964973)
2007
24
Effect of dsDNA binding to SmD-derived peptides on clinical accuracy in the diagnosis of systemic lupus erythematosus. (17640359)
2007
25
CRP and the disposal of dying cells: consequences for systemic lupus erythematosus and rheumatoid arthritis. (17516213)
2007
26
Effect of prolactin on CD40/CD154 expression on peripheral blood mononuclear cells in patients with systemic lupus erythematosus]. (17884785)
2007
27
C-Reactive protein and its implications in systemic lupus erythematosus. (18159197)
2007
28
Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus. (15657875)
2005
29
Peripheral neuropathy in pediatric systemic lupus erythematosus. (12770683)
2003
30
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
31
TAP1 and TAP2 polymorphisms analysis in northwestern Colombian patients with systemic lupus erythematosus. (12634240)
2003
32
Visualizing human leukocyte antigen class II risk haplotypes in human systemic lupus erythematosus. (12145745)
2002
33
Coronary artery disease in systemic lupus erythematosus: A review of the literature. (11404827)
2001
34
Serum levels of angiogenic cytokines in systemic lupus erythematosus and their correlation with disease activity. (11566625)
2001
35
Hypercalcaemia in systemic lupus erythematosus. (11346230)
2001
36
Nocardiosis in patients with systemic lupus erythematosus. The Singapore Lupus Study Group. (10813308)
2000
37
Chronic intestinal pseudo-obstruction in systemic lupus erythematosus due to intestinal smooth muscle myopathy. (10981652)
2000
38
Cytotoxic T lymphocyte antigen 4 (CTLA-4) dimorphism in patients with systemic lupus erythematosus. (10609073)
1999
39
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
40
Reduced purine 5'-nucleotidase activity in lymphocytes of patients with systemic lupus erythematosus: results of a pilot study. (10343529)
1999
41
Echocardiography in systemic lupus erythematosus. (9863896)
1998
42
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
43
Human parvovirus infection: rheumatic manifestations, angioedema, C1 esterase inhibitor deficiency, ANA positivity, and possible onset of systemic lupus erythematosus. (8823689)
1996
44
Elevated soluble CD27 levels in serum of patients with systemic lupus erythematosus. (8938100)
1996
45
Population and family studies of three disease-related polymorphic genes in systemic lupus erythematosus. (7706484)
1995
46
Distinguishing beta 2-glycoprotein I dependent (systemic lupus erythematosus type) and independent (syphilis type) anticardiolipin antibody with Tween 20. (7918046)
1993
47
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
48
Systemic lupus erythematosus and miliary tuberculosis in a prepubertal girl--a case report. (2152059)
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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UniProtKB/Swiss-Prot genetic disease variations for Systemic Lupus Erythematosus:

64
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

Expression for genes affiliated with Systemic Lupus Erythematosus

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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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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 pathway37
Regulation of toll-like receptor signaling pathway37
10.4C3, STAT4, TLR5
310.4BANK1, CR2, FCGR2B
4
Show member pathways
BCR signaling pathway37
TCR Signaling Pathway37
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 Pathway37
Complement and Coagulation Cascades37
10.4C4A, C3, CR2, C4B
9
Show member pathways
Immune response Alternative complement pathway60
Immune response Lectin Induced complement pathway60
Immune response Classic complement pathway60
10.4C4B, C4A, CR2, C3

Compounds for genes affiliated with Systemic Lupus Erythematosus

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Sources:
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Compounds related to Systemic Lupus Erythematosus according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1agarose4410.5DNASE1, C3, C4A, C4B
2anaphylatoxin4410.4C4A, C3
3serine4410.4CR2, STAT4, DNASE1, C3, C4A, C4B
4phosphatidylinositol4410.4C3, STAT4, TLR5, CR2, FCGR2B
5aurintricarboxylic acid4410.3DNASE1L3, DNASE1
6tyrosine4410.1TLR5, PTPN22, FCGR2B, STAT4, PDCD1, CR2

GO Terms for genes affiliated with Systemic Lupus Erythematosus

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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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet