MCID: SYS043
MIFTS: 32

Systemic Lupus Erythematosus 1

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

Aliases & Classifications for Systemic Lupus Erythematosus 1

MalaCards integrated aliases for Systemic Lupus Erythematosus 1:

Name: Systemic Lupus Erythematosus 1 54 71 29
Lupus Erythematosus, Systemic 69
Systemic Lupus Erythematosus 54
Sleb1 71

Classifications:



External Ids:

OMIM 54 601744
MeSH 42 D008180

Summaries for Systemic Lupus Erythematosus 1

UniProtKB/Swiss-Prot : 71 Systemic lupus erythematosus 1: 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 1, also known as lupus erythematosus, systemic, is related to systemic lupus erythematosus and lupus erythematosus, and has symptoms including pruritus and seizures. An important gene associated with Systemic Lupus Erythematosus 1 is TLR5 (Toll Like Receptor 5), and among its related pathways/superpathways is p53 Pathway (RnD). The drugs Mycophenolate mofetil and Mycophenolic acid have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and bone marrow, and related phenotype is liver/biliary system.

Description from OMIM: 601744

Related Diseases for Systemic Lupus Erythematosus 1

Symptoms & Phenotypes for Systemic Lupus Erythematosus 1

Clinical features from OMIM:

601744

UMLS symptoms related to Systemic Lupus Erythematosus 1:


pruritus, seizures

MGI Mouse Phenotypes related to Systemic Lupus Erythematosus 1:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 8.62 TLR5 TREX1

Drugs & Therapeutics for Systemic Lupus Erythematosus 1

Drugs for Systemic Lupus Erythematosus 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 291)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mycophenolate mofetil Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 128794-94-5 5281078
2
Mycophenolic acid Approved Phase 4,Phase 3,Phase 2,Phase 1 24280-93-1 446541
3
Simvastatin Approved Phase 4,Phase 1,Early Phase 1 79902-63-9 54454
4
Azathioprine Approved Phase 4,Phase 3,Phase 2,Phase 1 446-86-6 2265
5
Aspirin Approved, Vet_approved Phase 4,Phase 1 50-78-2 2244
6
belimumab Approved Phase 4,Phase 3,Phase 2,Phase 1 356547-88-1 5957 10451420
7
Metformin Approved Phase 4 657-24-9 14219 4091
8
Sulfamethoxazole Approved Phase 4 723-46-6 5329
9
Trimethoprim Approved, Vet_approved Phase 4 738-70-5 5578
10
Calcitriol Approved, Nutraceutical Phase 4,Phase 2 32222-06-3 134070 5280453
11
Alfacalcidol Approved, Nutraceutical Phase 4 41294-56-8 5282181
12
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 2,Phase 1 50-14-6 5280793
13
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 1 1406-16-2
14
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2 59-30-3 6037
15
leucovorin Approved, Nutraceutical Phase 4,Phase 3,Phase 2 58-05-9 143 6006
16 Vaccines Phase 4,Phase 2,Phase 3,Phase 1
17 Bone Density Conservation Agents Phase 4,Phase 2,Phase 1
18 Calcium, Dietary Phase 4,Phase 2,Phase 1,Early Phase 1
19 Micronutrients Phase 4,Phase 2,Phase 1
20 Trace Elements Phase 4,Phase 2,Phase 1
21 Vitamins Phase 4,Phase 2,Phase 1
22 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1
23 Antimetabolites Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
24 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1
25 Anticholesteremic Agents Phase 4,Phase 1,Phase 2,Early Phase 1
26 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 1,Phase 2,Early Phase 1
27 Hypolipidemic Agents Phase 4,Phase 1,Phase 2,Early Phase 1
28 Lipid Regulating Agents Phase 4,Phase 1,Phase 2,Early Phase 1
29 Antibodies Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
30 Autoantibodies Phase 4,Phase 2,Phase 3,Phase 1
31 Immunoglobulins Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
32 Vasoconstrictor Agents Phase 4,Phase 2
33 Diphosphonates Phase 4
34 Hydroxycholecalciferols Phase 4
35 Ibandronic acid Phase 4
36 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2
37 Antibiotics, Antitubercular Phase 4,Phase 3,Phase 2
38 Estrogens Phase 4,Phase 2,Phase 1
39 Estrogens, Conjugated (USP) Phase 4
40 Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
41 Hormones Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
42 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
43 Antimetabolites, Antineoplastic Phase 4,Phase 3,Phase 2,Phase 1
44 Analgesics Phase 4,Phase 2,Phase 3,Phase 1
45 Analgesics, Non-Narcotic Phase 4,Phase 2,Phase 3,Phase 1
46 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
47 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 2,Phase 1
48 Antipyretics Phase 4,Phase 2,Phase 3,Phase 1
49 Cyclooxygenase Inhibitors Phase 4,Phase 1
50 Fibrinolytic Agents Phase 4,Phase 1,Phase 2

Interventional clinical trials:

(show top 50) (show all 285)

id Name Status NCT ID Phase Drugs
1 Safety and Efficacy of Anti-Pandemic H1N1 Vaccination in Rheumatic Diseases Unknown status NCT01151644 Phase 4
2 Immune Response After Human Papillomavirus Vaccination in Patients With Autoimmune Disease Unknown status NCT00815282 Phase 4 Human papilloma virus vaccine (cervarix)
3 Steroid Induced Osteoporosis in Patients With Systemic Lupus Erythematosus Completed NCT00668330 Phase 4 Ibandronate+alfacalcidol+calcium;placebo ibandronate+alfacalcidol+calcium
4 Mycophenolate Mofetil in Systemic Lupus Erythematosus (MISSILE) Completed NCT01101802 Phase 4 Mycophenolate mofetil;sugar pill
5 Effect of Hormone Replacement Therapy on Lupus Activity Completed NCT00392093 Phase 4 Conjugated equine estrogens 0.625 mg/d + MPA 5 mg/d/10d
6 Enteric-coated Mycophenolate Sodium Versus Azathioprine for the Extra-renal Lupus Manifestations Completed NCT01112215 Phase 4 Azathioprine;Enteric-Coated Mycophenolate Sodium
7 Aspirin and Statins for Prevention of Atherosclerosis and Arterial Thromboembolism in Systemic Lupus Erythematosus Completed NCT00371501 Phase 4 Rosuvastatin;placebo;aspirin;placebo
8 The Effect of Metformin on Reducing Lupus Flares Recruiting NCT02741960 Phase 4 metformin;placebo
9 Prophylactic Trimethoprim/Sulfamethoxazole to Prevent Severe Infections in Patients With Lupus Erythematous Recruiting NCT03042260 Phase 4 Trimethoprim-Sulfamethoxazole;Placebo Oral Tablet
10 A Study to Assess the Efficacy and Safety of H.P. Acthar® Gel in Subjects With Active Systemic Lupus Erythematosus (SLE) Recruiting NCT02953821 Phase 4 Repository corticotropin injection;Placebo gel
11 Acthar SLE (Systemic Lupus Erythematosus) Recruiting NCT02779153 Phase 4 Acthar low dose (40 U);Acthar high dose (80 U)
12 Evaluation of Belimumab Impact on a BLyS Activity Signature Test in the Absence of Confounding Polypharmacy Recruiting NCT02270970 Phase 4
13 Acthar for the Treatment of Systemic Lupus Erythematosus in Patients With a History of Persistently Active Disease Active, not recruiting NCT01753401 Phase 4 Acthar;Placebo for Acthar
14 Belimumab Assessment of Safety in SLE Active, not recruiting NCT01705977 Phase 4
15 Effect of Simvastatin on Endothelial Function in Premenopausal Women With Systemic Lupus Erythematosus (0733-271)(TERMINATED) Terminated NCT00739050 Phase 4 simvastatin;Comparator: Placebo
16 Trial to Study the Effects of Supplementary Omega-3 on Serum C-Reactive Protein Levels Terminated NCT00578578 Phase 4
17 The Efficacy and Safety of Calcitriol for the Treatment of Lupus Nephritis and Persistent Proteinuria Withdrawn NCT00508898 Phase 4 Calcitriol;Multivitamin
18 CHABLIS-SC1: A Study of the Efficacy and Safety of Subcutaneous Blisibimod in Subjects With Systemic Lupus Erythematosus Completed NCT01395745 Phase 3 blisibimod;Placebo
19 Study of Epratuzumab Versus Placebo in Subjects With Moderate to Severe General Systemic Lupus Erythematosus Completed NCT01262365 Phase 3 Epratuzumab;Epratuzumab;Placebo
20 A Study of Belimumab in Subjects With Systemic Lupus Erythematosus Completed NCT00410384 Phase 3 Placebo;Belimumab 1 mg/kg;Belimumab 10 mg/kg
21 A Study of Belimumab in Subjects With Systemic Lupus Erythematosus (SLE) Completed NCT00424476 Phase 3 Placebo;Belimumab 1 mg/kg;Belimumab 10 mg/kg
22 A Continuation Trial for Subjects With Lupus Who Completed Protocol HGS1006-C1056 in the United States Completed NCT00724867 Phase 3
23 On Open-Label Study in Participants With Systemic Lupus Erythematosus Completed NCT01488708 Phase 3 LY2127399;Placebo
24 Safety Study of Two Vaccine Strategies in Patients With Systemic Lupus Erythematosus Completed NCT00611663 Phase 2, Phase 3
25 A Continuation Trial for Subjects With Lupus That Completed Protocol HGS1006-C1056 or HGS1006-C1057 Completed NCT00712933 Phase 3 belimumab
26 A Study of LY2127399 in Patients With Systemic Lupus Erythematosus Completed NCT01205438 Phase 3 LY2127399;Placebo every 2 weeks;Placebo every 4 weeks
27 A Study of LY2127399 in Patients With Systemic Lupus Erythematosus Completed NCT01196091 Phase 3 LY2127399;Placebo every 2 weeks;Placebo every 4 weeks
28 A Study to Evaluate Ocrelizumab in Patients With Nephritis Due to Systemic Lupus Erythematosus (BELONG) Completed NCT00626197 Phase 3 corticosteroids;cyclophosphamide;mycophenolate mofetil;ocrelizumab;placebo
29 Study of Epratuzumab Versus Placebo in Subjects With Moderate to Severe General Systemic Lupus Erythematosus (SLE) Completed NCT01261793 Phase 3 Placebo;Epratuzumab;Epratuzumab
30 Open Label Extension Study of Epratuzumab in Subjects With Systemic Lupus Erythematosus Completed NCT01408576 Phase 3 Epratuzumab;Epratuzumab
31 A Study to Evaluate the Safety of Rituximab Retreatment in Subjects With Systemic Lupus Erythematosus Completed NCT00137969 Phase 2, Phase 3 Rituximab;Placebo;Prednisone;Acetaminophen;Diphenhydramine
32 Long Term Safety of Anifrolumab in Adult Subjects With Active Systemic Lupus Erythematosus Recruiting NCT02794285 Phase 3 Placebo
33 Evaluation of the Discontinuation of Maintenance Corticosteroid Treatment in Quiescent Systemic Lupus Recruiting NCT02558517 Phase 3 prednisone discontinuation
34 Cyclophosphamide and Hydroxychloroquine for Thrombocytopenia in SLE Recruiting NCT02444728 Phase 3 Hydroxychloroquine;Cyclophosphamide;Azathioprine;Methylprednisolone
35 BEL114333, a Continuation Study of BEL113750 in Subjects With Systemic Lupus Erythematosus (SLE) in Northeast Asia, and in Japan Subjects Completing the Open-label Extension of HGS1006-C1115 Active, not recruiting NCT01597622 Phase 3 Belimumab
36 Trial of Rituximab and Mycophenolate Mofetil Without Oral Steroids for Lupus Nephritis Suspended NCT01773616 Phase 3 Oral prednisolone;Rituximab;Mycophenolate mofetil;Methyl prednisolone
37 A Study to Evaluate Two Doses of Ocrelizumab in Patients With Active Systemic Lupus Erythematosus (BEGIN) Terminated NCT00539838 Phase 3 Prednisone;immunosuppressive regime (azathioprine, mycophenolate mofetil or methotrexate);methylprednisolone;ocrelizumab;placebo
38 A Study to Evaluate the Safety of Rituximab Retreatment in Subjects With Systemic Lupus Erythematosus Terminated NCT00381810 Phase 3 Rituximab;Methylprednisolone;Acetaminophen;Diphenhydramine
39 Study of LJP 394 in Lupus Patients With History of Renal Disease Terminated NCT00089804 Phase 3 abetimus sodium (LJP 394) and/or placebo solution;abetimus sodium (LJP 394);Phosphate-buffered saline
40 TNF Blockade With Remicade in Active Lupus Nephritis WHO Class V (TRIAL ) Terminated NCT00368264 Phase 2, Phase 3 infliximab;placebo
41 A Study of Tabalumab (LY2127399) Using Two Different Injection Methods in Participants With Lupus Terminated NCT02041091 Phase 3 Tabalumab Auto-Injector;Tabalumab Prefilled Syringe
42 Steroids in the Maintenance of Remission of Proliferative Lupus Nephritis Withdrawn NCT00539799 Phase 3 prednisolone;Placebo
43 Five-Year Actively Controlled Clinical Trial in New Onset Juvenile Systemic Lupus Erythematosus Nephritis Withdrawn NCT00336414 Phase 3 cyclophosphamide-prednisone-azathioprine
44 Ultraviolet Light Therapy for Systemic Lupus Erythematosus Unknown status NCT00004375 Phase 2
45 Mesenchymal Stem Cells Transplantation for Refractory Systemic Lupus Erythematosus (SLE) Unknown status NCT00698191 Phase 1, Phase 2
46 Vaccination Against Influenza H1N1 in Rheumatic Diseases Unknown status NCT01006681 Phase 2
47 Umbilical Cord Derived Mesenchymal Stem Cells Transplantation for Active and Refractory Systemic Lupus Erythematosus Unknown status NCT01741857 Phase 1, Phase 2
48 The Effect of Calcitriol on Progress and Activity of Lupus Nephritis Unknown status NCT01863641 Phase 2 calcitriol;placebo
49 Umbilical Cord Mesenchymal Stem Cells for Patients With Autoimmune Hepatitis Unknown status NCT01661842 Phase 1, Phase 2
50 Umbilical Cord Mesenchymal Stem Cells for Patients With Primary Biliary Cirrhosis Unknown status NCT01662973 Phase 1, Phase 2

Search NIH Clinical Center for Systemic Lupus Erythematosus 1

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Genetic Tests for Systemic Lupus Erythematosus 1

Genetic tests related to Systemic Lupus Erythematosus 1:

id Genetic test Affiliating Genes
1 Systemic Lupus Erythematosus 1 29

Anatomical Context for Systemic Lupus Erythematosus 1

MalaCards organs/tissues related to Systemic Lupus Erythematosus 1:

39
Skin, Bone, Bone Marrow, Kidney, Endothelial, T Cells, Testes

Publications for Systemic Lupus Erythematosus 1

Articles related to Systemic Lupus Erythematosus 1:

id Title Authors Year
1
Genetic analysis of systemic lupus erythematosus: 1. Detection of disease-associated variant proteins by two-dimensional gel electrophoresis. ( 3359604 )
1988
2
Aseptic bone necrosis in systemic lupus erythematosus. 1. Report of a case involving four joints. 2. The result of x-ray examination of 22 other cases of lupus erythematosus. ( 6006860 )
1966

Variations for Systemic Lupus Erythematosus 1

ClinVar genetic disease variations for Systemic Lupus Erythematosus 1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TREX1 NM_033629.4(TREX1): c.341G> A (p.Arg114His) single nucleotide variant risk factor rs72556554 GRCh37 Chromosome 3, 48508395: 48508395

Expression for Systemic Lupus Erythematosus 1

Search GEO for disease gene expression data for Systemic Lupus Erythematosus 1.

Pathways for Systemic Lupus Erythematosus 1

Pathways related to Systemic Lupus Erythematosus 1 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.75 TLR5 TREX1

GO Terms for Systemic Lupus Erythematosus 1

Sources for Systemic Lupus Erythematosus 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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