SLE
MCID: SYS001
MIFTS: 85

Systemic Lupus Erythematosus (SLE)

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

Aliases & Classifications for Systemic Lupus Erythematosus

MalaCards integrated aliases for Systemic Lupus Erythematosus:

Name: Systemic Lupus Erythematosus 57 12 73 43 53 58 72 36 29 6 3 15 37 17 32
Lupus Nephritis 57 12 20 36 54 44 15 17 70
Sle 57 43 58 72 3
Systemic Lupus Erythematosus, Susceptibility to 57 29 6
Disseminated Lupus Erythematosus 12 43 58
Lupus Erythematosus, Systemic 12 44 70
Lupus Nephritis, Susceptibility to 57 6
Libman-Sacks Disease 43 70
Lupus Erythematosus, Systemic, Susceptibility to 39
Systemic Lupus Erythematosus Susceptibility to 57
Sle - Lupus Erythematosus, Systemic 12
Lupus Erythematosus Systemic 54
Lupus Erythematosus, Discoid 70
Lupus Erythematosus 70
Lupus Vulgaris 70
Le Syndrome 43
Lupus 43

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
complement deficiency (e.g. c2 and c4 null alleles) are susceptible to developing sle
association between hla class ii alleles and presence of autoantibodies
onset between ages 16-55
female to male ratio 8-13:1


HPO:

31
systemic lupus erythematosus:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare renal diseases
Rare systemic and rhumatological diseases


External Ids:

Disease Ontology 12 DOID:0080162 DOID:9074
OMIM® 57 152700
ICD9CM 34 710.0
NCIt 50 C3201
SNOMED-CT 67 156450004
ICD10 32 M32 M32.1 M32.9
MESH via Orphanet 45 D008180
ICD10 via Orphanet 33 M32.0 M32.1 M32.8 more
Orphanet 58 ORPHA536
UMLS 70 C0024131 C0024138 C0024141 more

Summaries for Systemic Lupus Erythematosus

MedlinePlus Genetics : 43 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.SLE may first appear as extreme tiredness (fatigue), a vague feeling of discomfort or illness (malaise), fever, loss of appetite, and weight loss. Most affected individuals also have joint pain, typically affecting the same joints on both sides of the body, and muscle pain and weakness. Skin problems are common in SLE. A characteristic feature is a flat red rash across the cheeks and bridge of the nose, called a "butterfly rash" because of its shape. The rash, which generally does not hurt or itch, often appears or becomes more pronounced when exposed to sunlight. Other skin problems that may occur in SLE include calcium deposits under the skin (calcinosis), damaged blood vessels (vasculitis) in the skin, and tiny red spots called petechiae. Petechiae are caused by a shortage of cells involved in clotting (platelets), which leads to bleeding under the skin. Affected individuals may also have hair loss (alopecia) and open sores (ulcerations) in the moist lining (mucosae) of the mouth, nose, or, less commonly, the genitals.About a third of people with SLE develop kidney disease (nephritis). Heart problems may also occur in SLE, including inflammation of the sac-like membrane around the heart (pericarditis) and abnormalities of the heart valves, which control blood flow in the heart. Heart disease caused by fatty buildup in the blood vessels (atherosclerosis), which is very common in the general population, is even more common in people with SLE. The inflammation characteristic of SLE can also damage the nervous system, and may result in abnormal sensation and weakness in the limbs (peripheral neuropathy); seizures; stroke; and difficulty processing, learning, and remembering information (cognitive impairment). Anxiety and depression are also common in SLE.People with SLE have episodes in which the condition gets worse (exacerbations) and other times when it gets better (remissions). Overall, SLE gradually gets worse over time, and damage to the major organs of the body can be life-threatening.

MalaCards based summary : Systemic Lupus Erythematosus, also known as lupus nephritis, is related to lupus erythematosus and autoimmune disease, and has symptoms including seizures, pruritus and exanthema. An important gene associated with Systemic Lupus Erythematosus is TREX1 (Three Prime Repair Exonuclease 1), and among its related pathways/superpathways are Systemic lupus erythematosus and Innate Immune System. The drugs Prednisone and Methylprednisolone have been mentioned in the context of this disorder. Affiliated tissues include Umbilical Cord, t cells and heart, and related phenotypes are arthritis and thrombocytopenia

Disease Ontology : 12 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.

GARD : 20 Lupus nephritis is a kidney disorder that is a complication of systemic lupus erythematous (SLE), commonly known as lupus. The symptoms of lupus nephritis include blood in the urine, a foamy appearance to the urine, high blood pressure, and swelling in any part of the body. This condition typically occurs in people aged 20 to 40 years. Treatment may involve medications to suppress the immune system, dialysis, or a kidney transplant. Visit our Web page on lupus for more information and resources.

OMIM® : 57 Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by production of autoantibodies against nuclear, cytoplasmic, and cell surface molecules that transcend organ-specific boundaries. Tissue deposition of antibodies or immune complexes induces inflammation and subsequent injury of multiple organs and finally results in clinical manifestations of SLE, including glomerulonephritis, dermatitis, thrombosis, vasculitis, seizures, and arthritis. Evidence strongly suggests the involvement of genetic components in SLE susceptibility (summary by Oishi et al., 2008). (152700) (Updated 20-May-2021)

CDC : 3 Lupus is an autoimmune disease that causes inflammation in different parts of the body. An autoimmune disease occurs when the body's immune system attacks itself. Its symptoms can show up in many different ways, which sometimes makes it hard to diagnose. Lupus symptoms can range from mild to life threatening, so early diagnosis and treatment by a rheumatologist are important. A rheumatologist is a doctor who has additional training and experience in the diagnosis and treatment of arthritis, lupus, and other diseases of the joints, muscles, and bones.

NINDS : 53 Lupus (also called systemic lupus erythematosus) 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. Initial symptoms of lupus may begin with a fever, vascular headaches, epilepsy, or psychoses. A striking feature of lupus is a butterfly shaped rash over the cheeks. In addition to headache, lupus can cause other neurological disorders, such as mild cognitive dysfunction, organic brain syndrome, peripheral neuropathies, sensory neuropathy, psychological problems (including personality changes, paranoia, mania, and schizophrenia), seizures, transverse myelitis, and paralysis and stroke.

KEGG : 36 Systemic lupus erythematosus (SLE) is a prototypic autoimmune disease characterised by the production of IgG autoantibodies that are specific for self-antigens, such as DNA, nuclear proteins and certain cytoplasmic components, in association with a diverse array of clinical manifestations. The primary pathological findings in patients with SLE are those of inflammation, vasculitis, immune complex deposition, and vasculopathy. Immune complexes comprising autoantibody and self-antigen is deposited particulary in the renal glomeruli and mediate a systemic inflammatory response by activating complement or via Fc{gamma}R-mediated neutrophil and macrophage activation. Activation of complement (C5) leads to injury both through formation of the membrane attack complex (C5b-9) or by generation of the anaphylatoxin and cell activator C5a. Neutrophils and macrophages cause tissue injury by the release of oxidants and proteases.

UniProtKB/Swiss-Prot : 72 Systemic lupus erythematosus: 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.

Wikipedia : 73 Lupus, technically known as systemic lupus erythematosus (SLE), is an autoimmune disease in which the... more...

Related Diseases for Systemic Lupus Erythematosus

Diseases in the Lupus Erythematosus family:

Systemic Lupus Erythematosus Systemic Lupus Erythematosus 15
Systemic Lupus Erythematosus 1 Systemic Lupus Erythematosus 2
Systemic Lupus Erythematosus 3 Systemic Lupus Erythematosus 4
Systemic Lupus Erythematosus 5 Systemic Lupus Erythematosus 6
Systemic Lupus Erythematosus 7 Systemic Lupus Erythematosus 8
Systemic Lupus Erythematosus 9 Systemic Lupus Erythematosus 10
Systemic Lupus Erythematosus 11 Systemic Lupus Erythematosus 12
Systemic Lupus Erythematosus 13 Systemic Lupus Erythematosus 14
Systemic Lupus Erythematosus 16

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

(show top 50) (show all 2401)
# Related Disease Score Top Affiliating Genes
1 lupus erythematosus 35.7 TREX1 TLR5 STAT4 PTPN22 PDCD1 IRF5
2 autoimmune disease 34.2 STAT4 PTPN22 PDCD1 IRF5 FCGR2B FCGR2A
3 systemic lupus erythematosus 16 33.9 DNASE1 C4A
4 vitiligo-associated multiple autoimmune disease susceptibility 1 33.8 PTPN22 PDCD1 CTLA4 C4B
5 pediatric systemic lupus erythematosus 33.6 STAT4 PTPN22 C4B C4A
6 aicardi-goutieres syndrome 33.4 TREX1 IRF5 DNASE1 ATRIP-TREX1 ATRIP
7 thrombocytopenia 33.4 TLR5 PTPN22 PDCD1 FCGR2B FCGR2A ENG
8 rheumatoid arthritis 33.4 STAT4 PTPN22 PDCD1 MALAT1 IRF5 FCGR2B
9 chilblain lupus 1 33.2 TREX1 IRF5 DNASE1 ATRIP-TREX1 ATRIP
10 complement factor i deficiency 32.7 C4B C4A
11 immune deficiency disease 32.6 STAT4 PDCD1 FCGR2A DNASE1 CTLA4 CR2
12 primary biliary cholangitis 32.4 STAT4 PTPN22 PDCD1 IRF5 CTLA4
13 crohn's disease 32.2 TLR5 STAT4 PTPN22 CTLA4
14 type 1 diabetes mellitus 32.1 PTPN22 PDCD1 CTLA4 C4A
15 common variable immunodeficiency 32.0 FCGR2B CTLA4 CR2 BLK
16 malaria 31.9 PDCD1 FCGR2B FCGR2A ENG CTLA4 CR2
17 hypersensitivity reaction type iii disease 31.9 FCGR2B FCGR2A C4B C4A
18 anca-associated vasculitis 31.9 PTPN22 CTLA4
19 hemophagocytic lymphohistiocytosis 31.9 IRF5 CTLA4 CR2
20 kawasaki disease 31.8 FCGR2B FCGR2A BLK
21 microscopic polyangiitis 31.6 FCGR2B FCGR2A
22 aicardi-goutieres syndrome 1 31.5 TREX1 ATRIP-TREX1 ATRIP
23 coronary aneurysm 31.4 FCGR2A BLK
24 behcet syndrome 31.3 STAT4 PTPN22 CTLA4 C4A
25 granulomatous hepatitis 31.2 CTLA4 CR2
26 multifocal motor neuropathy 31.2 PTPN22 FCGR2B BLK BANK1
27 type 1 diabetes mellitus 12 31.1 PTPN22 CTLA4
28 felty syndrome 31.0 C4B C4A
29 familial chilblain lupus 31.0 TREX1 ATRIP-TREX1 ATRIP
30 vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations 31.0 TREX1 ATRIP-TREX1 ATRIP
31 complement component 3 deficiency 30.7 C4B C4A
32 blood coagulation disease 30.4 FCGR2A CTLA4 C4B C4A
33 oligoarticular juvenile idiopathic arthritis 30.0 STAT4 PTPN22
34 systemic lupus erythematosus 1 11.8
35 systemic lupus erythematosus 2 11.8
36 systemic lupus erythematosus 10 11.8
37 systemic lupus erythematosus 9 11.8
38 systemic lupus erythematosus 6 11.8
39 systemic lupus erythematosus 11 11.8
40 systemic lupus erythematosus with hemolytic anemia 1 11.6
41 mixed connective tissue disease 11.6
42 neonatal systemic lupus erythematosus 11.6
43 neonatal lupus erythematosus 11.6
44 antiphospholipid syndrome 11.6
45 c1q deficiency 11.6
46 systemic lupus erythematosus 3 11.6
47 systemic lupus erythematosus 4 11.6
48 systemic lupus erythematosus 7 11.5
49 systemic lupus erythematosus 8 11.5
50 sjogren syndrome 11.5

Comorbidity relations with Systemic Lupus Erythematosus via Phenotypic Disease Network (PDN): (show all 18)


Acute Cystitis Chronic Kidney Disease
Deficiency Anemia Esophagitis
Familial Atrial Fibrillation Heart Disease
Hypersensitivity Vasculitis Hypertension, Essential
Hypothyroidism Intermediate Coronary Syndrome
Mitral Valve Disease Neutropenia
Osteoporosis Postinflammatory Pulmonary Fibrosis
Raynaud Phenomenon Rheumatoid Arthritis
Sjogren Syndrome Systemic Scleroderma

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



Diseases related to Systemic Lupus Erythematosus

Symptoms & Phenotypes for Systemic Lupus Erythematosus

Human phenotypes related to Systemic Lupus Erythematosus:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 arthritis 31 HP:0001369
2 thrombocytopenia 31 HP:0001873
3 hemolytic anemia 31 HP:0001878
4 pericarditis 31 HP:0001701
5 cutaneous photosensitivity 31 HP:0000992
6 psychosis 31 HP:0000709
7 leukopenia 31 HP:0001882
8 pleuritis 31 HP:0002102
9 antiphospholipid antibody positivity 31 HP:0003613
10 systemic lupus erythematosus 31 HP:0002725
11 antinuclear antibody positivity 31 HP:0003493
12 nephritis 31 HP:0000123
13 malar rash 31 HP:0025300
14 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
psychosis

Hematology:
thrombocytopenia
hemolytic anemia
leukopenia

Respiratory Lung:
pleuritis

Genitourinary Kidneys:
nephritis

Laboratory Abnormalities:
antiphospholipid antibody
anti dsdna antibody
serum antinuclear antibody

Skeletal Limbs:
arthritis

Cardiovascular Heart:
pericarditis

Immunology:
systemic lupus erythematosus

Skin Nails Hair Skin:
photosensitivity
erythematous malar rash
discoid rash

Clinical features from OMIM®:

152700 (Updated 20-May-2021)

UMLS symptoms related to Systemic Lupus Erythematosus:


seizures; pruritus; exanthema; heliotrope rash; lupus-like rash

MGI Mouse Phenotypes related to Systemic Lupus Erythematosus:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.28 BANK1 BLK C4B CR2 CTLA4 DNASE1
2 homeostasis/metabolism MP:0005376 10.24 ATRIP BLK C4B CR2 CTLA4 DNASE1
3 immune system MP:0005387 10.17 BANK1 BLK C4B CR2 CTLA4 DNASE1
4 cardiovascular system MP:0005385 10.16 ATRIP C4B CTLA4 DNASE1 ENG FCGR2B
5 digestive/alimentary MP:0005381 9.98 C4B CTLA4 ENG FCGR2B PTPN22 TLR5
6 mortality/aging MP:0010768 9.97 ATRIP C4B CR2 CTLA4 DNASE1 ENG
7 liver/biliary system MP:0005370 9.8 C4B CTLA4 FCGR2B PDCD1 PTPN22 TLR5
8 renal/urinary system MP:0005367 9.56 C4B CR2 DNASE1 FCGR2B PDCD1 PTPN22
9 respiratory system MP:0005388 9.17 CTLA4 ENG FCGR2B PDCD1 PTPN22 TLR5

Drugs & Therapeutics for Systemic Lupus Erythematosus

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

(show top 50) (show all 337)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
2
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
3
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
4
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
5
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
6
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
7
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
8
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
9
Lenalidomide Approved Phase 4 191732-72-6 216326
10
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
11
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754
12
Lifitegrast Approved Phase 4 1025967-78-5
13
Everolimus Approved Phase 4 159351-69-6 6442177 70789204
14
Thalidomide Approved, Investigational, Withdrawn Phase 4 50-35-1 5426
15
Trimethoprim Approved, Vet_approved Phase 4 738-70-5 5578
16
Sulfamethoxazole Approved Phase 4 723-46-6 5329
17
Artesunate Approved, Investigational Phase 4 88495-63-0 6917864 5464098
18
Metformin Approved Phase 4 657-24-9 14219 4091
19
Cyclophosphamide Approved, Investigational Phase 4 50-18-0, 6055-19-2 2907
20
Mycophenolic acid Approved Phase 4 24280-93-1 446541
21
Simvastatin Approved Phase 4 79902-63-9 54454
22
Alfacalcidol Approved, Nutraceutical Phase 4 41294-56-8 5282181
23
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
24 Antineoplastic Agents, Hormonal Phase 4
25 Methylprednisolone Acetate Phase 4
26 Gastrointestinal Agents Phase 4
27 Calcineurin Inhibitors Phase 4
28 Vaccines Phase 4
29 Antiemetics Phase 4
30 Neuroprotective Agents Phase 4
31 Cyclooxygenase Inhibitors Phase 4
32 Rosuvastatin Calcium Phase 4 147098-20-2
33 Antilymphocyte Serum Phase 4
34 Anti-Asthmatic Agents Phase 4
35 Phosphodiesterase 3 Inhibitors Phase 4
36 Bronchodilator Agents Phase 4
37 Heptavalent Pneumococcal Conjugate Vaccine Phase 4
38 Thymoglobulin Phase 4
39 Omega 3 Fatty Acid Phase 4
40 Hydroxycholecalciferols Phase 4
41 Ibandronic Acid Phase 4
42 Estrogens, Conjugated (USP) Phase 4
43 Lubricant Eye Drops Phase 4
44 Complement System Proteins Phase 4
45 Antiviral Agents Phase 4
46 Angiogenesis Inhibitors Phase 4
47 Anthelmintics Phase 4
48 Trimethoprim, Sulfamethoxazole Drug Combination Phase 4
49 Cytochrome P-450 Enzyme Inhibitors Phase 4
50 Complement C3 Phase 4

Interventional clinical trials:

(show top 50) (show all 832)
# Name Status NCT ID Phase Drugs
1 Endothelial Dysfunction in Systemic Lupus Erythematosus: Its Contribution to Abnormalities in Coronary Perfusion. Unknown status NCT00188188 Phase 4 quinipril
2 Efficacy and Adverse Effect of Simvastatin Compare to Rosuvastatin in SLE Patients With Corticosteroid Therapy and High LDL Cholesterol Level Unknown status NCT00866229 Phase 4 Rosuvastatin;Simvastatin
3 Evaluation of Belimumab Impact on a BLyS Activity Signature Test in the Absence of Confounding Polypharmacy Unknown status NCT02270970 Phase 4
4 Safety and Efficacy of Anti-Pandemic H1N1 Vaccination in Rheumatic Diseases Unknown status NCT01151644 Phase 4
5 Immunogenicity and Safety of a Herpes Zoster Vaccine (Zostavax) in Patients With Systemic Lupus Erythematosus: a Randomized Controlled Trial Completed NCT02477150 Phase 4
6 Effect of Pioglitazone on Endothelial Function in Premenopausal Women With Uncomplicated Systemic Lupus Erythematosus, a Randomized, Double-blind, Placebo-controlled Clinical Trial Completed NCT01322308 Phase 4 pioglitazone;placebo
7 Immunogenicity and Safety of a Quadrivalent Human Papillomavirus (HPV) Vaccine in Patients With Systemic Lupus Erythematosus (SLE): a Controlled Study Completed NCT00911521 Phase 4 human papillomavirus vaccination (Gardasil)
8 Low Dose Aspirin and Statins for Primary Prevention of Atherosclerosis and Arterial Thromboembolism in Systemic Lupus Erythematosus: A Randomized Double-blind Placebo-controlled Trial Completed NCT00371501 Phase 4 Rosuvastatin;placebo;aspirin;placebo
9 A Multicenter, Randomised, Double-blind Placebo Controlled Trial on the Efficacy and Safety of add-on Metformin to Conventional Immunosuppressants in Systemic Lupus Erythematosus Completed NCT02741960 Phase 4 metformin;placebo
10 Long-Acting Tacrolimus for the Treatment of Resistant Lupus Nephritis Completed NCT01206569 Phase 4 Long-acting tacrolimus (Advagraf, Astellas Pharma)
11 Low-dose Combination of Mycophenolate Mofetil and Tacrolimus for Refractory Lupus Nephritis: a 12-month Prospective Study Completed NCT01203709 Phase 4 low dose combination of MMF and Tac
12 To Compare the Efficacy of Tacrolimus and Mycophenolate Mofetil for the Initial Therapy of Active Lupus Nephritis Completed NCT00371319 Phase 4 tacrolimus;mycophenolate mofetil
13 Safety and Efficacy of Pletal (Cilostazol) for the Treatment of Juvenile Primary and Secondary Raynaud's Phenomenon Completed NCT00048776 Phase 4 Pletal
14 Tacrolimus for the Treatment of Systemic Lupus Erythematosus With Membranous Nephritis Completed NCT00125307 Phase 4 tacrolimus
15 A Randomized, Double-Blind, Active Comparator-Controlled, Crossover Study to Assess the Capacity of RAYOS® Compared to Immediate-Release Prednisone to Improve Fatigue and Control Morning Symptoms in Subjects With Systemic Lupus Erythematosus Completed NCT03098823 Phase 4 RAYOS;Prednisone
16 A Single-site, Investigator Initiated Open-Label Trial of H.P. Acthar Gel (Repository Corticotropin Injection)an Adrenocorticotropic Hormone (ACTH) Analogue in Subjects With Moderately to Severely Active Systemic Lupus Erythematosus (SLE) Completed NCT01769937 Phase 4 H.P. Acthar Gel
17 A Multicenter, Randomized, Double Blind, Placebo Controlled Study to Assess the Efficacy and Safety of Acthar Gel in Subjects With Persistently Active Systemic Lupus Erythematosus Despite Moderate Dose Corticosteroids Completed NCT02953821 Phase 4 Acthar Gel;Placebo Gel
18 A Phase 3/4, Multi-Center, Randomized, Double-Blind, Placebo-Controlled, 52-Week Study to Evaluate the Efficacy and Safety of Belimumab (HGS1006) in Adult Subjects of Black Race With Systemic Lupus Erythematosus (SLE) Completed NCT01632241 Phase 4 Standard therapy
19 Steroid Induced Osteoporosis in Patients With Systemic Lupus Erythematosus-Prevalence,Risk Factors and Treatment Completed NCT00668330 Phase 4 Ibandronate+alfacalcidol+calcium;placebo ibandronate+alfacalcidol+calcium
20 A Phase 4, Multi-Center, Randomized, Open-Label Study to Evaluate the Effect of BENLYSTA™ (Belimumab; HGS1006) on Vaccine Responses in Subjects With Systemic Lupus Erythematosus (SLE) Completed NCT01597492 Phase 4
21 Study of the Reduction of Systemic Lupus Erythematosus Flares Through Adaptation of the Dosage of Hydroxychloroquine to Its Whole-blood Concentration. National Multicenter Randomized Prospective Study Completed NCT00413361 Phase 4 versus hydroxychloroquine
22 A Two-part Study Exploring the Efficacy, Safety, and Pharmacodynamics of Acthar in Systemic Lupus Erythematosus Patients With a History of Persistently Active Disease Completed NCT01753401 Phase 4 Acthar;Placebo;Steroid Drug
23 Randomized Controlled Trial to Evaluate the Efficacy of Enteric-coated Mycophenolate Sodium Versus Azathioprine for the Induction and Maintenance of Remission of the Extra-renal Lupus Manifestations Completed NCT01112215 Phase 4 Azathioprine;Enteric-Coated Mycophenolate Sodium
24 Effect Of Hormone Replacement Therapy On Disease Activity, Menopausal Symptoms And Bone Mineral Density In Peri/Postmenopausal Women With Systemic Lupus Erythematosus.Randomized Clinical Trial Completed NCT00392093 Phase 4 Conjugated equine estrogens 0.625 mg/d + MPA 5 mg/d/10d
25 Lupus Atherosclerosis Prevention Study Completed NCT00120887 Phase 4 Atorvastatin
26 A Prospective, Randomised, Double-blind, Placebo-controlled Trial Evaluating the Effects of Mycophenolate Mofetil on 'Surrogate Markers' for Atherosclerosis in Female Patients With SLE. Completed NCT01101802 Phase 4 Mycophenolate mofetil;sugar pill
27 A Randomized, Double-blind, Placebo-controlled, Clinical Trial of Omega-3-polyunsaturated Fatty Acids in Subjects With SLE. Completed NCT00828178 Phase 4 Omega-3
28 Immune Response After Human Papillomavirus Vaccination in Patients With Autoimmune Disease Completed NCT00815282 Phase 4
29 Study Title: A Phase 4 Study to Assess the Clinical Efficacy of H.P. Acthar Gel 80 U/ml to Improve the Signs and Symptoms in Subjects With Dry Eye Disease Completed NCT03287635 Phase 4 Corticotropin 80Unit/Ml Repository Injection
30 Comparison of Intravenous Low Dose Versus High Dose Cyclophosphamide as Induction Therapy in the Treatment of Proliferative Lupus Nephritis Completed NCT02645565 Phase 4 Cyclophosphamide;Azathioprine;Methylprednisolone
31 Efficacy of Lower Dose Prednisolone in the Induction of Remission of Lupus Nephritis Completed NCT04146220 Phase 4 Prednisolone
32 Everolimus in Association With Very Low-dose Tacrolimus Versus Enteric-coated Mycophenolate Sodium With Low-dose Tacrolimus in de Novo Renal Transplant Recipients - A Prospective Single Center Study Completed NCT02084446 Phase 4 Everolimus;Very Low Tacrolimus;Low Tacrolimus;Steroids;Thymoglobulin;Sodium Mycophenolate
33 Phase II Study To Evaluate The Safety And Efficacy Of Lenalidomide For The Treatment Of Refractory Cutaneous Lupus Completed NCT01408199 Phase 4 Lenalidomide
34 Immunogenicity and Safety of Influenza A/H3N2 Vaccine in Patients With Rheumatologic Diseases Completed NCT03540823 Phase 4
35 Pilot Trial of Belimumab in Early Lupus Recruiting NCT03543839 Phase 4
36 Prophylactic Trimethoprim-Sulfamethoxazole for the Prevention of Serious Infections in Patients With Systemic Lupus Erythematosus: a Randomized Placebo Controlled Trial Recruiting NCT03042260 Phase 4 Trimethoprim-Sulfamethoxazole;Placebo Oral Tablet
37 Relevance of Monitoring Blood Levels Compared to Salivar Levels of Drugs Used in Rheumatic Autoimmune Diseases: Adherence and Understanding the Possible Underlying Mechanisms Involved in Effectiveness and in Adverse Effects Recruiting NCT03122431 Phase 4 Thalidomide;Hydroxychloroquine reduced;Hydroxychloroquine high
38 A Multicenter, Randomized Controlled Clinical Study About Efficacy and Safety of Standard Dose and Individualized Dose of Rituximab in Maintaining Remission in Patients With Moderate to Severe Systemic Lupus Erythematosus Recruiting NCT04127747 Phase 4 Standard dose of rituximab;Individualized dose of rituximab
39 A Randomized Open-label Study to Evaluate the Efficacy and Safety of Tacrolimus and Corticosteroids in Comparison With Mycophenolate Mofetil and Corticosteroids in Subjects With Class III/IV±V Lupus Nephritis Recruiting NCT02630628 Phase 4 Tacrolimus;Mycophenolate mofetil
40 Open-label Prospective Randomized Study to Determine the Efficacy and Safety of Two Dosing Regimens of ACTHar in the Treatment of Proliferative Lupus Nephritis. Recruiting NCT02226341 Phase 4 CellCept;ACTHar gel;ACTHar gel
41 A Randomized, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Artesunate Plus Standard of Care in Active Lupus Nephritis: Pilot Study Recruiting NCT03214731 Phase 4 Artesunate
42 A Randomized, Double-Blind, Placebo-Controlled 52-Week Study to Assess Adverse Events of Special Interest in Adults With Active, Autoantibody-Positive Systemic Lupus Erythematosus Receiving Belimumab Active, not recruiting NCT01705977 Phase 4
43 Sequential Belimumab Followed by T-cell Based Therapy in the Treatment of Systemic Lupus Erythematosus (SUBTLE) - a Preliminary Proof-of-concept Mechanistic Study Not yet recruiting NCT04447053 Phase 4 Belimumab Injection [Benlysta]
44 Efficacy and Safety of Belimumab for Prevention of Disease Flares in SLE Patients With Low Disease Activity Not yet recruiting NCT04515719 Phase 4
45 Comparison Between Mycophenolate andCyclophosphamide in the Treatment of Lupus Nephritis Not yet recruiting NCT04424602 Phase 4 cyclo phosphamide;mycophenolate
46 Metformin In Prevention Of Lupus Nephritis In High Risk Patients Not yet recruiting NCT04145687 Phase 4 Metformin
47 Effect of Simvastatin on Endothelial Function in Premenopausal Women With Systemic Lupus Erythematosus Terminated NCT00739050 Phase 4 simvastatin;Comparator: Placebo
48 A Multicenter, Non-comparative, Open-labeled, Prospective Study to Evaluate the Efficacy and Safety of Tacrolimus (Prograf®) With Steroid in Korean Lupus Nephritis Patients Who Are Non-responders to Steroid Monotherapy Terminated NCT01316133 Phase 4 tacrolimus
49 A Randomized Open-label Study of Fixed-dose Versus Concentration-controlled Mycophenolate Mofetil for the Treatment of Active Lupus Nephritis Terminated NCT03920059 Phase 4 Mycophenolate Mofetil
50 Efficacy and Infectious Complications of Induction Therapy With Low-dose Versus High-dose Intravenous Cyclophosphamide for Proliferative Lupus Nephritis in Children Terminated NCT01861561 Phase 4 Low-dose intravenous cyclophosphamide;High-dose intravenous cyclophosphamide

Search NIH Clinical Center for Systemic Lupus Erythematosus

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Azathioprine
Chloroquine
Chloroquine hydrochloride
chloroquine phosphate
Cyclophosphamide
Cyclosporine
Hydroxychloroquine
Hydroxychloroquine Sulfate
prasterone
Thalidomide
Triamcinolone
Triamcinolone Acetonide
TRIAMCINOLONE ACETONIDE PWDR
triamcinolone diacetate
triamcinolone hexacetonide

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Systemic Lupus Erythematosus cell therapies at LifeMap Discovery.

Cochrane evidence based reviews: lupus nephritis

Genetic Tests for Systemic Lupus Erythematosus

Genetic tests related to Systemic Lupus Erythematosus:

# Genetic test Affiliating Genes
1 Systemic Lupus Erythematosus 29 CTLA4 DNASE1 FCGR2A FCGR2B PTPN22 TREX1
2 Systemic Lupus Erythematosus, Susceptibility to 29

Anatomical Context for Systemic Lupus Erythematosus

MalaCards organs/tissues related to Systemic Lupus Erythematosus:

40
T Cells, Heart, Skin, Bone, Endothelial, Kidney, Brain
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Systemic Lupus Erythematosus:
# Tissue Anatomical CompartmentCell Relevance
1 Umbilical Cord Wharton's Jelly Mesenchymal Stem Cells Potential therapeutic candidate

Publications for Systemic Lupus Erythematosus

Articles related to Systemic Lupus Erythematosus:

(show top 50) (show all 37368)
# Title Authors PMID Year
1
CTLA-4 polymorphisms and systemic lupus erythematosus (SLE): a meta-analysis. 6 61 57 54
15688186 2005
2
Common DNase I polymorphism associated with autoantibody production among systemic lupus erythematosus patients. 6 57 54 61
15333586 2004
3
Evidence for CTLA4 as a susceptibility gene for systemic lupus erythematosus. 54 57 6 61
15138458 2004
4
Mutation of DNASE1 in people with systemic lupus erythematosus. 61 54 57 6
11479590 2001
5
A defunctioning polymorphism in FCGR2B is associated with protection against malaria but susceptibility to systemic lupus erythematosus. 6 61 57
20385827 2010
6
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus. 61 57 6
17660818 2007
7
Meta-analysis of TNF-alpha promoter -308 A/G polymorphism and SLE susceptibility. 6 57 54
16418737 2006
8
Decreased transcription of the human FCGR2B gene mediated by the -343 G/C promoter polymorphism and association with systemic lupus erythematosus. 57 6 61
15895258 2005
9
Fcgamma receptor gene polymorphisms in Japanese patients with systemic lupus erythematosus: contribution of FCGR2B to genetic susceptibility. 57 61 6
12115230 2002
10
Loss of function of a lupus-associated FcgammaRIIb polymorphism through exclusion from lipid rafts. 57 6
16170323 2005
11
Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE. 6 57
15273934 2004
12
A loss-of-function variant of PTPN22 is associated with reduced risk of systemic lupus erythematosus. 57 54 61
18981062 2009
13
A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus. 54 61 57
16642019 2006
14
Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus. 61 54 57
15657875 2005
15
CD72 polymorphisms associated with alternative splicing modify susceptibility to human systemic lupus erythematosus through epistatic interaction with FCGR2B. 6 61 54
15459183 2004
16
A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans. 54 57 61
12402038 2002
17
Induction of dendritic cell differentiation by IFN-alpha in systemic lupus erythematosus. 57 54 61
11711679 2001
18
Molecular basis of deficient IL-2 production in T cells from patients with systemic lupus erythematosus. 61 57 54
11238674 2001
19
Association of IL-6 gene alleles with systemic lupus erythematosus (SLE) and with elevated IL-6 expression. 61 54 57
11197305 1999
20
Fc gamma RIIA alleles are heritable risk factors for lupus nephritis in African Americans. 6 61 54
8636449 1996
21
Akt-dependent enhanced migratory capacity of Th17 cells from children with lupus nephritis. 61 57
25339666 2014
22
CSK regulatory polymorphism is associated with systemic lupus erythematosus and influences B-cell signaling and activation. 57 61
23042117 2012
23
Regulatory polymorphisms in EGR2 are associated with susceptibility to systemic lupus erythematosus. 61 57
20194224 2010
24
Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus. 61 57
19838193 2009
25
A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. 57 61
19838195 2009
26
Identification of a new putative functional IL18 gene variant through an association study in systemic lupus erythematosus. 57 61
19584085 2009
27
High alpha-defensin levels in patients with systemic lupus erythematosus. 61 57
19191901 2009
28
Multiple polymorphisms in the TNFAIP3 region are independently associated with systemic lupus erythematosus. 57 61
19165919 2008
29
Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus. 61 57
19165918 2008
30
Copy number of FCGR3B, which is associated with systemic lupus erythematosus, correlates with protein expression and immune complex uptake. 61 57
18559452 2008
31
Transcript levels of DNA methyltransferases DNMT1, DNMT3A and DNMT3B in CD4+ T cells from patients with systemic lupus erythematosus. 61 57
18194272 2008
32
A nonsynonymous functional variant in integrin-alpha(M) (encoded by ITGAM) is associated with systemic lupus erythematosus. 61 57
18204448 2008
33
Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. 57 61
18204446 2008
34
Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus. 57 61
18204447 2008
35
Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX. 57 61
18204098 2008
36
Polymorphism at the TNF superfamily gene TNFSF4 confers susceptibility to systemic lupus erythematosus. 57 61
18059267 2008
37
Identification of a significant association of a single nucleotide polymorphism in TNXB with systemic lupus erythematosus in a Japanese population. 61 57
18058064 2008
38
A functional SNP in the NKX2.5-binding site of ITPR3 promoter is associated with susceptibility to systemic lupus erythematosus in Japanese population. 61 57
18219441 2008
39
STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus. 57 61
17804842 2007
40
Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European Americans. 57 61
17503323 2007
41
Systemic lupus erythematosus-associated defects in the inhibitory receptor FcgammaRIIb reduce susceptibility to malaria. 6 61
17435165 2007
42
Association of a common complement receptor 2 haplotype with increased risk of systemic lupus erythematosus. 61 57
17360460 2007
43
Genetic linkage of systemic lupus erythematosus to 13q32 in African American families with affected male members. 57 61
16189706 2005
44
Systemic lupus erythematosus susceptibility loci defined by genome scan meta-analysis. 61 57
16208513 2005
45
FcgammaRIIB Ile232Thr transmembrane polymorphism associated with human systemic lupus erythematosus decreases affinity to lipid rafts and attenuates inhibitory effects on B cell receptor signaling. 61 6
16115811 2005
46
CD226 expression deficiency causes high sensitivity to apoptosis in NK T cells from patients with systemic lupus erythematosus. 61 57
15661884 2005
47
A promoter haplotype of the immunoreceptor tyrosine-based inhibitory motif-bearing FcgammaRIIb alters receptor expression and associates with autoimmunity. I. Regulatory FCGR2B polymorphisms and their association with systemic lupus erythematosus. 61 57
15153543 2004
48
Gain-of-function polymorphism in mouse and human Ltk: implications for the pathogenesis of systemic lupus erythematosus. 57 61
14695357 2004
49
Polymorphism at the C-reactive protein locus influences gene expression and predisposes to systemic lupus erythematosus. 57 61
14645206 2004
50
Triplets with systemic lupus erythematosus. 61 57
14613280 2003

Variations for Systemic Lupus Erythematosus

ClinVar genetic disease variations for Systemic Lupus Erythematosus:

6 (show all 32)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BLK NM_001715.3(BLK):c.919C>G (p.Pro307Ala) SNV Pathogenic 619203 rs1307379746 GRCh37: 8:11414313-11414313
GRCh38: 8:11556804-11556804
2 BLK NM_001715.3(BLK):c.1048T>C (p.Tyr350His) SNV Pathogenic 619204 rs758750492 GRCh37: 8:11418829-11418829
GRCh38: 8:11561320-11561320
3 BLK NM_001715.3(BLK):c.391C>T (p.Arg131Trp) SNV Pathogenic 619201 rs73663163 GRCh37: 8:11407690-11407690
GRCh38: 8:11550181-11550181
4 BLK NM_001715.3(BLK):c.1075C>T (p.Arg359Cys) SNV Pathogenic 619205 rs146505280 GRCh37: 8:11418856-11418856
GRCh38: 8:11561347-11561347
5 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.856_865dup (p.Ala289fs) Duplication Pathogenic 930977 GRCh37: 3:48508908-48508909
GRCh38: 3:48467509-48467510
6 BLK NM_001715.3(BLK):c.713G>A (p.Arg238Gln) SNV Pathogenic 210528 rs141865425 GRCh37: 8:11412934-11412934
GRCh38: 8:11555425-11555425
7 ENG NM_000118.3(ENG):c.816+6T>C SNV Pathogenic 453308 rs759191907 GRCh37: 9:130587504-130587504
GRCh38: 9:127825225-127825225
8 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.341G>A (p.Arg114His) SNV risk factor 4179 rs72556554 GRCh37: 3:48508395-48508395
GRCh38: 3:48466996-48466996
9 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.340C>T (p.Arg114Cys) SNV Likely pathogenic 209198 rs760838030 GRCh37: 3:48508394-48508394
GRCh38: 3:48466995-48466995
10 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.1A>G (p.Met1Val) SNV Likely pathogenic 931952 GRCh37: 3:48508055-48508055
GRCh38: 3:48466656-48466656
11 AP4B1-AS1 , PTPN22 NM_015967.7(PTPN22):c.1858C>T (p.Arg620Trp) SNV risk factor 8909 rs2476601 GRCh37: 1:114377568-114377568
GRCh38: 1:113834946-113834946
12 TNF TNF, -308G-A SNV risk factor 12388 GRCh37:
GRCh38:
13 FCGR2A NM_001136219.3(FCGR2A):c.500A>G (p.His167Arg) SNV risk factor 14823 rs1801274 GRCh37: 1:161479745-161479745
GRCh38: 1:161509955-161509955
14 CTLA4 NM_005214.5(CTLA4):c.49A>G (p.Thr17Ala) SNV risk factor 16921 rs231775 GRCh37: 2:204732714-204732714
GRCh38: 2:203867991-203867991
15 SOCS1 NM_003745.1(SOCS1):c.64C>T (p.Arg22Trp) SNV Likely pathogenic 977215 GRCh37: 16:11349272-11349272
GRCh38: 16:11255415-11255415
16 SOCS1 NM_003745.1(SOCS1):c.460T>C (p.Tyr154His) SNV Likely pathogenic 977216 GRCh37: 16:11348876-11348876
GRCh38: 16:11255019-11255019
17 FCGR2B NM_004001.4(FCGR2B):c.-386G>C SNV risk factor 5466 rs3219018 GRCh37: 1:161632646-161632646
GRCh38: 1:161662856-161662856
18 FCGR2B NM_004001.4(FCGR2B):c.695T>C (p.Ile232Thr) SNV risk factor 5467 rs1050501 GRCh37: 1:161643798-161643798
GRCh38: 1:161674008-161674008
19 DNASE1 NM_005223.3(DNASE1):c.13A>T (p.Lys5Ter) SNV risk factor 16851 rs121912990 GRCh37: 16:3705387-3705387
GRCh38: 16:3655386-3655386
20 DNASE1 NM_005223.3(DNASE1):c.731G>A (p.Arg244Gln) SNV risk factor 16852 rs1053874 GRCh37: 16:3707747-3707747
GRCh38: 16:3657746-3657746
21 DNASE2 NM_001375.3(DNASE2):c.965G>A (p.Gly322Asp) SNV Uncertain significance 810670 GRCh37: 19:12986922-12986922
GRCh38: 19:12876108-12876108
22 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.218C>T (p.Pro73Leu) SNV Uncertain significance 522920 rs755919767 GRCh37: 3:48508272-48508272
GRCh38: 3:48466873-48466873
23 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.923C>G (p.Ser308Cys) SNV Uncertain significance 374471 rs769885715 GRCh37: 3:48508977-48508977
GRCh38: 3:48467578-48467578
24 CTLA4 NM_005214.5(CTLA4):c.410C>T (p.Pro137Leu) SNV Uncertain significance 432079 rs1553657429 GRCh37: 2:204735609-204735609
GRCh38: 2:203870886-203870886
25 BLK NM_001715.3(BLK):c.116C>T (p.Pro39Leu) SNV Benign 258175 rs142352008 GRCh37: 8:11400849-11400849
GRCh38: 8:11543340-11543340
26 BLK NM_001715.3(BLK):c.164A>G (p.His55Arg) SNV Benign 619206 rs202053568 GRCh37: 8:11403601-11403601
GRCh38: 8:11546092-11546092
27 DNASE1 NM_005223.3(DNASE1):c.379G>A (p.Gly127Arg) SNV Benign 973637 GRCh37: 16:3706697-3706697
GRCh38: 16:3656696-3656696
28 BLK NM_001715.3(BLK):c.392G>A (p.Arg131Gln) SNV Benign 619202 rs144615291 GRCh37: 8:11407691-11407691
GRCh38: 8:11550182-11550182
29 BLK NM_001715.3(BLK):c.252G>C (p.Lys84Asn) SNV Benign 619207 rs778435147 GRCh37: 8:11405617-11405617
GRCh38: 8:11548108-11548108
30 BLK NM_001715.3(BLK):c.301G>A (p.Val101Ile) SNV Benign 619208 rs371256341 GRCh37: 8:11406564-11406564
GRCh38: 8:11549055-11549055
31 BLK NM_001715.3(BLK):c.344G>A (p.Arg115Gln) SNV Benign 619209 rs367628135 GRCh37: 8:11406607-11406607
GRCh38: 8:11549098-11549098
32 BANK1 NM_017935.5(BANK1):c.120G>C (p.Trp40Cys) SNV Benign 619210 rs35978636 GRCh37: 4:102751014-102751014
GRCh38: 4:101829857-101829857

UniProtKB/Swiss-Prot genetic disease variations for Systemic Lupus Erythematosus:

72
# Symbol AA change Variation ID SNP ID
1 PTPN22 p.Arg620Trp VAR_022605 rs2476601
2 TREX1 p.Arg114His VAR_028319 rs72556554
3 TREX1 p.Ala158Val VAR_037949 rs762011967
4 TREX1 p.Gly227Ser VAR_037950 rs113107733
5 TREX1 p.Arg240Ser VAR_037951 rs72556555
6 TREX1 p.Ala247Pro VAR_037952 rs112741962
7 TREX1 p.Pro290Leu VAR_037954 rs148833270
8 TREX1 p.Tyr305Cys VAR_037955 rs370504038
9 TREX1 p.Gly306Ala VAR_037956 rs780022923
10 TREX1 p.Asp200His VAR_070901

Copy number variations for Systemic Lupus Erythematosus from CNVD:

7 (show all 43)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 14694 1 110000000 163800000 Gain or loss FCGR3B Systemic lupus erythematosus
2 21050 1 156500000 165500000 Copy number FCGR3B Systemic lupus erythematosus
3 21051 1 156500000 165500000 Copy number FCGR3B Systemic lupus erythematosus
4 21053 1 156500000 165500000 Copy number FCGR3B Systemic lupus erythematosus
5 21628 1 159859611 159867782 Copy number FCGR3B Systemic lupus erythematosus
6 21630 1 159859611 159867782 Low copy number FCGR3B Systemic lupus erythematosus
7 21794 1 161592989 161601158 Copy number FCGR3B Systemic lupus erythematosus
8 21797 1 161592989 161601158 Deletion FCGR3B Systemic lupus erythematosus
9 107133 17 1225928 31649829 Copy number CCL3L3 Systemic lupus erythematosus
10 107143 17 1225928 31649843 Copy number CCL3L1 Systemic lupus erythematosus
11 107163 17 1242109 31665953 Copy number CCL4L2 Systemic lupus erythematosus
12 110232 17 31562580 31665959 Copy number CCL4L1 Systemic lupus erythematosus
13 110282 17 31800000 38100000 Copy number CCL3L1 Systemic lupus erythematosus
14 110283 17 31800000 38100000 Copy number CCL3L1 Systemic lupus erythematosus
15 110288 17 31800000 38100000 Copy number CCL4L1 Systemic lupus erythematosus
16 112168 17 38100000 38400000 Copy number CCL3L1 Systemic lupus erythematosus
17 113342 17 43165608 43178484 Amplification TBX21 Systemic lupus erythematosus
18 162470 22 21800000 24300000 Gain or loss GSTT1 Systemic lupus erythematosus
19 186012 4 2713184 2727859 Deletion TNIP2 Systemic lupus erythematosus
20 196060 5 158674368 158690059 Amplification IL12B Systemic lupus erythematosus
21 204042 6 105500000 114600000 Copy number C4A Systemic lupus erythematosus
22 204043 6 105500000 114600000 Copy number C4B Systemic lupus erythematosus
23 207132 6 15200000 46200000 Copy number Systemic lupus erythematosus
24 209409 6 2614953 31491069 Copy number MICA Systemic lupus erythematosus
25 210235 6 29900000 36800000 Low copy numbers C4A Systemic lupus erythematosus
26 210494 6 30400000 36600000 Copy number C4A Systemic lupus erythematosus
27 210495 6 30400000 36600000 Copy number C4B Systemic lupus erythematosus
28 210499 6 30400000 36600000 Copy number C4A Systemic lupus erythematosus
29 210506 6 30400000 36600000 Copy number C4B Systemic lupus erythematosus
30 210507 6 30400000 36600000 Copy number C4B Systemic lupus erythematosus
31 210512 6 30400000 36600000 Gain C4A Systemic lupus erythematosus
32 210513 6 30400000 36600000 Gain C4B Systemic lupus erythematosus
33 211033 6 31949833 32003194 Copy number C4A Systemic lupus erythematosus
34 211045 6 3197570 32111174 Copy number C4A Systemic lupus erythematosus
35 211049 6 3197570 32111174 Duplication C4A Systemic lupus erythematosus
36 211054 6 31982571 32003194 Copy number C4B Systemic lupus erythematosus
37 211360 6 32593131 32665540 Copy number HLA-DRB5 Systemic lupus erythematosus
38 212285 6 3674895 32665540 Copy number HLA-DRB1 Systemic lupus erythematosus
39 212431 6 3795995 32719407 Copy number HLA-DQA1 Systemic lupus erythematosus
40 212452 6 3813334 32742444 Copy number HLA-DQB1 Systemic lupus erythematosus
41 212671 6 40500000 46200000 Copy number Systemic lupus erythematosus
42 212678 6 40500000 93100000 Copy number Systemic lupus erythematosus
43 243031 8 7752198 7754236 Copy number DEFB4A Systemic lupus erythematosus

Expression for Systemic Lupus Erythematosus

LifeMap Discovery
Genes differentially expressed in tissues of Systemic Lupus Erythematosus patients vs. healthy controls: 35 (show all 12)
# Gene Description Tissue Up/Dn Fold Change (log2) P value
1 IFI27 interferon alpha inducible protein 27 Blood + 5.47 0.000
2 OTOF otoferlin Blood + 5.25 0.000
3 RPS4Y1 ribosomal protein S4 Y-linked 1 Blood - 4.40 0.000
4 IFIT1 interferon induced protein with tetratricopeptide repeats 1 Blood + 4.22 0.000
5 LINC00661 long intergenic non-protein coding RNA 661 Blood + 4.15 0.000
6 SIGLEC1 sialic acid binding Ig like lectin 1 Blood + 4.12 0.000
7 EIF1AY eukaryotic translation initiation factor 1A Y-linked Blood - 3.96 0.000
8 RSAD2 radical S-adenosyl methionine domain containing 2 Blood + 3.81 0.000
9 IFI44L interferon induced protein 44 like Blood + 3.58 0.000
10 USP41 ubiquitin specific peptidase 41 Blood + 3.40 0.000
11 HESX1 HESX homeobox 1 Blood + 3.22 0.000
12 IFIT3 interferon induced protein with tetratricopeptide repeats 3 Blood + 3.08 0.000
Search GEO for disease gene expression data for Systemic Lupus Erythematosus.

Pathways for Systemic Lupus Erythematosus

Pathways related to Systemic Lupus Erythematosus according to KEGG:

36
# Name Kegg Source Accession
1 Systemic lupus erythematosus hsa05322

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.59 TREX1 TLR5 PTPN22 PDCD1 IRF5 FCGR2B
2 11.95 STAT4 PTPN22 PDCD1 IRF5 CTLA4 BLK
3 11.44 FCGR2B FCGR2A C4B C4A
4 10.92 TLR5 PDCD1 FCGR2B FCGR2A CTLA4 CR2

GO Terms for Systemic Lupus Erythematosus

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.88 TREX1 TLR5 FCGR2B CTLA4 CR2
2 inflammatory response GO:0006954 9.8 TREX1 TLR5 IRF5 FCGR2B C4B C4A
3 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.7 TREX1 DNASE1 ATRIP
4 innate immune response GO:0045087 9.7 TREX1 TLR5 IRF5 CR2 C4B C4A
5 regulation of complement activation GO:0030449 9.69 CR2 C4B C4A
6 regulation of innate immune response GO:0045088 9.54 TREX1 PTPN22 FCGR2B
7 regulation of B cell receptor signaling pathway GO:0050855 9.49 PTPN22 BLK
8 negative regulation of B cell activation GO:0050869 9.46 FCGR2B BANK1
9 DNA catabolic process GO:0006308 9.43 TREX1 DNASE1
10 negative regulation of B cell proliferation GO:0030889 9.43 FCGR2B CTLA4 BLK
11 positive regulation of apoptotic cell clearance GO:2000427 9.4 C4B C4A
12 immune system process GO:0002376 9.28 TLR5 PTPN22 PDCD1 IRF5 FCGR2A CTLA4
13 negative regulation of immune response GO:0050777 9.13 PDCD1 FCGR2B CTLA4

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

# Name GO ID Score Top Affiliating Genes
1 IgG binding GO:0019864 9.16 FCGR2B FCGR2A
2 transmembrane signaling receptor activity GO:0004888 9.02 TLR5 FCGR2B FCGR2A ENG CR2
3 complement binding GO:0001848 8.96 CR2 C4B

Sources for Systemic Lupus Erythematosus

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