MCID: SYS001
MIFTS: 91

Systemic Lupus Erythematosus malady

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

Aliases & Classifications for Systemic Lupus Erythematosus

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Systemic Lupus Erythematosus, Aliases & Descriptions:

Name: Systemic Lupus Erythematosus 45 30 9 21 42 11 3
Disseminated Lupus Erythematosus 9 21
Lupus Erythematosus, Systemic 9 60
Lupus Erythematosus Systemic 43 22
Libman-Sacks Disease 21 60
Systemic Lupus Erythematosus, Susceptibility to or Protection Against 10
Systemic Lupus Erythematosus or Protection Against} 45
Systemic Lupus Erythematosus, Association with 45
 
Sle - Lupus Erythematosus, Systemic 9
Lupus Erythematosus, Discoid 60
Lupus Erythematosus 60
Lupus Vulgaris 60
Le Syndrome 21
Lupus 21
Sle 21


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases, Bone diseases


External Ids:

OMIM45 152700
Disease Ontology9 DOID:9074
NCIt38 C3201
ICD9CM27 710.0
MeSH33 D008180
ICD1025 M32, M32.1

Summaries for Systemic Lupus Erythematosus

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OMIM:45 Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by production of autoantibodies... (152700) more...

MalaCards based summary: Systemic Lupus Erythematosus, also known as disseminated lupus erythematosus, is related to lupus erythematosus and arthritis, and has symptoms including autosomal dominant inheritance, nephritis and psychosis. An important gene associated with Systemic Lupus Erythematosus is PTPN22 (protein tyrosine phosphatase, non-receptor type 22 (lymphoid)), and among its related pathways are B Cell Receptor Signaling Pathway and CD28 co-stimulation. The drugs azathioprine and chloroquine and the compounds agarose and serine have been mentioned in the context of this disorder. Affiliated tissues include t cells, skin and kidney, and related mouse phenotypes are hematopoietic system and renal/urinary 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.

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.

NINDS:42 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.

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.

Wikipedia:63 Systemic lupus erythematosus i/s??st?m?k ?lu?p?s ??r??i?m??to?s?s/, often abbreviated as SLE or lupus,... more...

Related Diseases for Systemic Lupus Erythematosus

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Diseases in the Lupus Erythematosus family:

systemic lupus erythematosus Systemic Lupus Erythematosus 9
Systemic Lupus Erythematosus 1 Systemic Lupus Erythematosus 2
Systemic Lupus Erythematosus 16 Systemic Lupus Erythematosus 10
Dnase1-Related Susceptibility to Systemic Lupus Erythematosus Cr2-Related Susceptibility to Systemic Lupus Erythematosus
Autosomal Recessive Systemic Lupus Erythematosus

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

(show top 50)    (show all 900)
idRelated DiseaseScoreTop Affiliating Genes
1lupus erythematosus33.7TREX1, C4A, C3, DNASE1, FCGR2B
2arthritis32.7PTPN22, FCGR2B, C3, CTLA4
3rheumatoid arthritis32.6PTPN22, FCGR2B, STAT4, C3, PDCD1, CTLA4
4connective tissue disease32.2PTPN22, FCGR2B, DNASE1, C3, CTLA4, TREX1
5thyroiditis31.9CTLA4, PTPN22
6complement deficiency31.7C4A, C3
7inflammatory bowel disease31.0TLR5, PTPN22, STAT4, CTLA4
8addison's disease30.8CTLA4, PTPN22
9ulcerative colitis30.8CTLA4, STAT4, TLR5
10pediatric systemic lupus erythematosus11.1
11antiphospholipid syndrome11.1
12nephritis11.1
13myelitis11.0
14endotheliitis11.0
15vasculitis11.0
16lupus nephritis11.0
17atherosclerosis10.9
18protein-losing enteropathy10.9
19transverse myelitis10.9
20mixed connective tissue disease10.9
21purpura10.9
22cerebritis10.9
23glomerulonephritis10.9
24retinitis10.9
25scleroderma10.9
26hepatitis10.8
27lymphopenia10.8
28discoid lupus erythematosus10.8
29thrombotic thrombocytopenic purpura10.8
30thrombocytopenia10.8
31klinefelter's syndrome10.8
32pure red-cell aplasia10.8
33diffuse alveolar hemorrhage10.8
34intestinal pseudo-obstruction10.7
35dermatomyositis10.7
36c1q deficiency10.7
37meningitis10.7
38aneurysm10.7
39cardiac tamponade10.7
40cutaneous lupus erythematosus10.7
41tuberculosis10.7
42myocardial infarction10.7
43congenital heart block10.7
44arthropathy10.7
45nervous system disease10.7
46pneumonia10.7
47vascular disease10.7
48rheumatic disease10.7
49juvenile rheumatoid arthritis10.7
50central nervous system disease10.7

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

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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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:

31
T cells, Skin, Kidney, B cells, Lung, Heart, Endothelial, Neutrophil, Brain, Monocytes, Thyroid, Bone, Liver, Bone marrow, Testes, Breast, Colon, Pituitary, Prostate, Testis, Myeloid, Whole blood, Spleen, Nk cells, Eye, Spinal cord, Placenta, Skeletal muscle, Salivary gland, Uterus, Temporal lobe, Pineal, Smooth muscle

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

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:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000539710.5STAT4, DNASE1, PDCD1, CR2, PTPN22, TLR5
2MP:000536710.5DNASE1, PTPN22, FCGR2B, STAT4, TREX1, C4B
3MP:000538710.5FCGR2B, PTPN22, TREX1, STAT4, DNASE1, C3
4MP:000537010.5PTPN22, FCGR2B, C3, PDCD1, CTLA4, C4B
5MP:000538110.5TLR5, PTPN22, TREX1, C4B, CTLA4, C3
6MP:000537610.4TREX1, C4B, CTLA4, CR2, C3, DNASE1
7MP:001076810.3C4B, CTLA4, CR2, PDCD1, DNASE1, STAT4
8MP:000538510.3PDCD1, TREX1, C4B, CTLA4, C3, FCGR2B
9MP:000537910.1CTLA4, PDCD1, C3, STAT4, FCGR2B, TLR5

Publications for Systemic Lupus Erythematosus

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Articles related to Systemic Lupus Erythematosus:

(show top 50)    (show all 4526)
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
HLA-DRB1 alleles in juvenile-onset systemic lupus erythematosus: renal histologic class correlations. (17401504)
2007
21
Preliminary clinical measurement of the expression of B-cell activating factor in Chinese systemic lupus erythematosus patients. (17506477)
2007
22
Circulating proangiogenic molecules PIGF, SDF-1 and sVCAM-1 in patients with systemic lupus erythematosus. (17964973)
2007
23
Effect of dsDNA binding to SmD-derived peptides on clinical accuracy in the diagnosis of systemic lupus erythematosus. (17640359)
2007
24
CRP and the disposal of dying cells: consequences for systemic lupus erythematosus and rheumatoid arthritis. (17516213)
2007
25
Effect of prolactin on CD40/CD154 expression on peripheral blood mononuclear cells in patients with systemic lupus erythematosus]. (17884785)
2007
26
C-Reactive protein and its implications in systemic lupus erythematosus. (18159197)
2007
27
Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus. (15657875)
2005
28
Peripheral neuropathy in pediatric systemic lupus erythematosus. (12770683)
2003
29
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
30
TAP1 and TAP2 polymorphisms analysis in northwestern Colombian patients with systemic lupus erythematosus. (12634240)
2003
31
Visualizing human leukocyte antigen class II risk haplotypes in human systemic lupus erythematosus. (12145745)
2002
32
Coronary artery disease in systemic lupus erythematosus: A review of the literature. (11404827)
2001
33
Serum levels of angiogenic cytokines in systemic lupus erythematosus and their correlation with disease activity. (11566625)
2001
34
Hypercalcaemia in systemic lupus erythematosus. (11346230)
2001
35
Nocardiosis in patients with systemic lupus erythematosus. The Singapore Lupus Study Group. (10813308)
2000
36
Chronic intestinal pseudo-obstruction in systemic lupus erythematosus due to intestinal smooth muscle myopathy. (10981652)
2000
37
Cytotoxic T lymphocyte antigen 4 (CTLA-4) dimorphism in patients with systemic lupus erythematosus. (10609073)
1999
38
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
39
Reduced purine 5'-nucleotidase activity in lymphocytes of patients with systemic lupus erythematosus: results of a pilot study. (10343529)
1999
40
Echocardiography in systemic lupus erythematosus. (9863896)
1998
41
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
42
Human parvovirus infection: rheumatic manifestations, angioedema, C1 esterase inhibitor deficiency, ANA positivity, and possible onset of systemic lupus erythematosus. (8823689)
1996
43
Elevated soluble CD27 levels in serum of patients with systemic lupus erythematosus. (8938100)
1996
44
Population and family studies of three disease-related polymorphic genes in systemic lupus erythematosus. (7706484)
1995
45
Distinguishing beta 2-glycoprotein I dependent (systemic lupus erythematosus type) and independent (syphilis type) anticardiolipin antibody with Tween 20. (7918046)
1993
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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UniProtKB/Swiss-Prot genetic disease variations for Systemic Lupus Erythematosus:

62
id Symbol AA change Variation ID SNP ID
1PTPN22p.Arg620TrpVAR_022605rs2476601
2TREX1p.Arg169HisVAR_028319
3TREX1p.Ala213ValVAR_037949
4TREX1p.Gly282SerVAR_037950rs113107733
5TREX1p.Arg295SerVAR_037951rs72556555
6TREX1p.Ala302ProVAR_037952rs112741962
7TREX1p.Pro345LeuVAR_037954
8TREX1p.Tyr360CysVAR_037955
9TREX1p.Gly361AlaVAR_037956
10TREX1p.Asp255HisVAR_070901

Expression for genes affiliated with Systemic Lupus Erythematosus

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LifeMap Discovery
Genes differentially expressed in tissues of Systemic Lupus Erythematosus patients vs. healthy controls: 30 (show all 8)
id Gene Description Tissue Up/Dn Fold Change (log2) P value
1RPS4Y1ribosomal protein S4, Y-linked 1Blood-4.400.000
2EIF1AYeukaryotic translation initiation factor 1A, Y-linkedBlood-3.960.000
3PRTN3proteinase 3Blood+3.610.000
4AZU1azurocidin 1Blood+3.540.000
5MPOmyeloperoxidaseBlood+3.340.000
6ELANEelastase, neutrophil expressedBlood+3.310.000
7DEFA4defensin, alpha 4, corticostatinBlood+3.240.000
8GPER1G protein-coupled estrogen receptor 1Blood+3.070.000

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 Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.4BANK1, CR2, FCGR2B
2
Show member pathways
10.4PTPN22, PDCD1, CTLA4
3
Show member pathways
10.4C3, STAT4, TLR5
410.4C3, C4A, C4B
5
Show member pathways
10.4CR2, STAT4, FCGR2B, TLR5
6
Show member pathways
BCR signaling pathway36
TCR Signaling Pathway36
10.4CTLA4, CR2, PDCD1, FCGR2B
710.4FCGR2B, C3, C4A, C4B
8
Show member pathways
Complement Activation, Classical Pathway36
Complement and Coagulation Cascades36
10.4C3, CR2, C4A, C4B
9
Show member pathways
Immune response Alternative complement pathway58
Immune response Lectin Induced complement pathway58
Immune response Classic complement pathway58
10.4C4B, C4A, CR2, C3

Compounds for genes affiliated with Systemic Lupus Erythematosus

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Sources:
43Novoseek, 24HMDB
See all sources

Compounds related to Systemic Lupus Erythematosus according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1agarose4310.6DNASE1, C3, C4A, C4B
2serine4310.6C4B, FCGR2B, STAT4, DNASE1, C3, CR2
3allergens4310.5STAT4, PDCD1, CTLA4
4phosphatidylinositol4310.5CTLA4, CR2, C3, STAT4, FCGR2B, TLR5
5thymine43 2411.5CTLA4, DNASE1
6tyrosine4310.5CTLA4, CR2, PDCD1, STAT4, FCGR2B, PTPN22
7aurintricarboxylic acid4310.5DNASE1, DNASE1L3
8estrogen4310.3FCGR2B, DNASE1, C3, CR2, CTLA4
9anaphylatoxin4310.1C4A, C3

GO Terms for genes affiliated with Systemic Lupus Erythematosus

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Cellular components related to Systemic Lupus Erythematosus according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1plasma membraneGO:000588610.4FCGR2B, C3, PDCD1, CR2, CTLA4, C4A
2blood microparticleGO:007256210.3C4B, C4A, C3
3external side of plasma membraneGO:000989710.1CTLA4, CR2, PDCD1

Biological processes related to Systemic Lupus Erythematosus according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1complement activation, classical pathwayGO:000695810.6C4B, C4A, CR2, C3
2regulation of complement activationGO:003044910.5C3, C4A, C4B
3innate immune responseGO:004508710.5TLR5, C3, CR2, C4A, C4B, TREX1
4DNA metabolic processGO:000625910.4TREX1, DNASE1L3
5complement activationGO:000695610.4C3, C4A, C4B
6inflammatory responseGO:000695410.3C4B, C4A, C3, TLR5
7immune responseGO:000695510.1FCGR2B, C3, CR2, CTLA4

Molecular functions related to Systemic Lupus Erythematosus according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1endopeptidase inhibitor activityGO:000486610.4C4B, C4A, C3

Products for genes affiliated with Systemic Lupus Erythematosus

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  • Antibodies
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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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet