SLE
MCID: SYS001
MIFTS: 88

Systemic Lupus Erythematosus (SLE)

Categories: Blood diseases, 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 75 25 54 59 74 37 29 6 3 15 38 17 33
Lupus Nephritis 57 12 53 37 55 44 15 17 72
Sle 57 25 59 74 3
Disseminated Lupus Erythematosus 12 25 59
Lupus Erythematosus, Systemic 12 44 72
Lupus 25 43 3
Systemic Lupus Erythematosus, Susceptibility to 57 6
Lupus Nephritis, Susceptibility to 57 6
Libman-Sacks Disease 25 72
Lupus Erythematosus, Systemic, Susceptibility to 40
Systemic Lupus Erythematosus Susceptibility to 57
Sle - Lupus Erythematosus, Systemic 12
Lupus Erythematosus Systemic 55
Lupus Erythematosus, Discoid 72
Lupus Erythematosus 72
Lupus Vulgaris 72
Le Syndrome 25

Characteristics:

OMIM:

57
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:

32
systemic lupus erythematosus:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080162 DOID:9074
OMIM 57 152700
ICD9CM 35 710.0
NCIt 50 C3201
SNOMED-CT 68 55464009
ICD10 33 M32 M32.1 M32.9
MESH via Orphanet 45 D008180
ICD10 via Orphanet 34 M32.0 M32.1 M32.8 more
Orphanet 59 ORPHA536
UMLS 72 C0024131 C0024138 C0024141 more

Summaries for Systemic Lupus Erythematosus

MedlinePlus : 43 What is lupus? Lupus is an autoimmune disease. This means that your immune system attacks healthy cells and tissues by mistake. This can damage many parts of the body, including the joints, skin, kidneys, heart, lungs, blood vessels, and brain. There are several kinds of lupus Systemic lupus erythematosus (SLE) is the most common type. It can be mild or severe, and can affect many parts of the body. Discoid lupus causes a red rash that doesn't go away Subacute cutaneous lupus causes sores after being out in the sun Drug-induced lupus is caused by certain medicines. It usually goes away when you stop taking the medicine. Neonatal lupus, which is rare, affects newborns. It is probably caused by certain antibodies from the mother. What causes lupus? The cause of lupus is not known. Who is at risk for lupus? Anyone can get lupus, but women are most at risk. Lupus is two to three times more common in African American women than in Caucasian women. It's also more common in Hispanic, Asian, and Native American women. African American and Hispanic women are more likely to have severe forms of lupus. What are the symptoms of lupus? Lupus can have many symptoms, and they differ from person to person. Some of the more common ones are Pain or swelling in joints Muscle pain Fever with no known cause Red rashes, most often on the face (also called the "butterfly rash") Chest pain when taking a deep breath Hair loss Pale or purple fingers or toes Sensitivity to the sun Swelling in legs or around eyes Mouth ulcers Swollen glands Feeling very tired Symptoms may come and go. When you are having symptoms, it is called a flare. Flares can range from mild to severe. New symptoms may appear at any time. How is lupus diagnosed? There is no single test to diagnose lupus, and it's often mistaken for other diseases. So it may take months or years for a doctor to diagnose it. Your doctor may use many tools to make a diagnosis: Medical history Complete exam Blood tests Skin biopsy (looking at skin samples under a microscope) Kidney biopsy (looking at tissue from your kidney under a microscope) What are the treatments for lupus? There is no cure for lupus, but medicines and lifestyle changes can help control it. People with lupus often need to see different doctors. You will have a primary care doctor and a rheumatologist (a doctor who specializes in the diseases of joints and muscles). Which other specialists you see depends on how lupus affects your body. For example, if lupus damages your heart or blood vessels, you would see a cardiologist. Your primary care doctor should coordinate care between your different health care providers and treat other problems as they come up. Your doctor will develop a treatment plan to fit your needs. You and your doctor should review the plan often to be sure it is working. You should report new symptoms to your doctor right away so that your treatment plan can be changed if needed. The goals of the treatment plan are to Prevent flares Treat flares when they occur Reduce organ damage and other problems Treatments may include drugs to Reduce swelling and pain Prevent or reduce flares Help the immune system Reduce or prevent damage to joints Balance the hormones Besides taking medicines for lupus, you may need to take medicines for problems that are related to lupus such as high cholesterol, high blood pressure, or infection. Alternative treatments are those that are not part of standard treatment. At this time, no research shows that alternative medicine can treat lupus. Some alternative or complementary approaches may help you cope or reduce some of the stress associated with living with a chronic illness. You should talk to your doctor before trying any alternative treatments. How can I cope with lupus? It is important to take an active role in your treatment. It helps to learn more about lupus - being able to spot the warning signs of a flare can help you prevent the flare or make the symptoms less severe. It is also important to find ways to cope with the stress of having lupus. Exercising and finding ways to relax may make it easier for you to cope. A good support system can also help. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases

MalaCards based summary : Systemic Lupus Erythematosus, also known as lupus nephritis, is related to lupus erythematosus and systemic lupus erythematosus 16, and has symptoms including seizures, pruritus and exanthema. An important gene associated with Systemic Lupus Erythematosus is PTPN22 (Protein Tyrosine Phosphatase Non-Receptor Type 22), and among its related pathways/superpathways are Systemic lupus erythematosus and Innate Immune System. The drugs Prednisolone phosphate and Methylprednisolone hemisuccinate have been mentioned in the context of this disorder. Affiliated tissues include Umbilical Cord, t cells and kidney, and related phenotypes are seizures and arthritis

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.

Genetics Home Reference : 25 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 cell fragments 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.

NIH Rare Diseases : 53 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)

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 : 54 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 : 37
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 : 74 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 : 75 Systemic lupus erythematosus (SLE), also known simply as lupus, 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 2330)
# Related Disease Score Top Affiliating Genes
1 lupus erythematosus 37.2 TREX1 TLR5 STAT4 PTPN22 PDCD1 IRF5
2 systemic lupus erythematosus 16 36.2 DNASE1 C4A
3 pediatric systemic lupus erythematosus 36.0 STAT4 C4B C4A
4 vitiligo-associated multiple autoimmune disease susceptibility 1 35.5 PTPN22 PDCD1 CTLA4
5 autoimmune disease 34.5 STAT4 PTPN22 PDCD1 IRF5 IL10 CTLA4
6 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 33.6 PTPN22 IL10 CTLA4
7 rheumatoid arthritis 33.6 STAT4 PTPN22 MALAT1 IRF5 IL10 CTLA4
8 arthritis 33.1 STAT4 PTPN22 IRF5 IL10
9 common variable immunodeficiency 32.5 IL10 CTLA4 CR2 BLK
10 kawasaki disease 32.1 IL10 FCGR2A BLK
11 primary biliary cholangitis 32.1 IRF5 CTLA4
12 behcet syndrome 31.8 STAT4 IL10 CTLA4 C4A
13 multifocal motor neuropathy 31.7 PTPN22 FCGR2B BLK BANK1
14 systemic lupus erythematosus 1 12.9
15 systemic lupus erythematosus 2 12.9
16 systemic lupus erythematosus 10 12.9
17 systemic lupus erythematosus 9 12.9
18 systemic lupus erythematosus 6 12.9
19 systemic lupus erythematosus 11 12.9
20 systemic lupus erythematosus with hemolytic anemia 1 12.7
21 systemic lupus erythematosus 3 12.7
22 systemic lupus erythematosus 4 12.7
23 systemic lupus erythematosus 7 12.7
24 systemic lupus erythematosus 15 12.7
25 systemic lupus erythematosus 8 12.7
26 systemic lupus erythematosus 13 12.7
27 systemic lupus erythematosus 5 12.7
28 systemic lupus erythematosus 12 12.7
29 systemic lupus erythematosus 14 12.7
30 systemic lupus erythematosus with nephritis 1 12.7
31 systemic lupus erythematosus with nephritis 2 12.7
32 systemic lupus erythematosus with nephritis 3 12.7
33 neonatal systemic lupus erythematosus 12.6
34 obsolete: bullous systemic lupus erythematosus 12.6
35 neonatal lupus erythematosus 12.4
36 rare cutaneous lupus erythematosus 12.2
37 hypertrophic or verrucous lupus erythematosus 12.2
38 discoid lupus erythematosus of eyelid 12.0
39 obsolete: acute cutaneous lupus erythematosus 12.0
40 obsolete: maculopapular lupus rash 12.0
41 mixed connective tissue disease 12.0
42 antiphospholipid syndrome 12.0
43 c1q deficiency 12.0
44 drug-induced lupus erythematosus 12.0
45 sjogren syndrome 12.0
46 cutaneous lupus erythematosus 11.9
47 hypogonadotropic hypogonadism 11.9
48 complement component 2 deficiency 11.9
49 raynaud phenomenon 11.8
50 aicardi-goutieres syndrome 11.8

Comorbidity relations with Systemic Lupus Erythematosus via Phenotypic Disease Network (PDN): (show all 17)


Acute Cystitis 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:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 arthritis 32 HP:0001369
3 hemolytic anemia 32 HP:0001878
4 cutaneous photosensitivity 32 HP:0000992
5 pericarditis 32 HP:0001701
6 thrombocytopenia 32 HP:0001873
7 psychosis 32 HP:0000709
8 leukopenia 32 HP:0001882
9 pleuritis 32 HP:0002102
10 systemic lupus erythematosus 32 HP:0002725
11 antinuclear antibody positivity 32 HP:0003493
12 nephritis 32 HP:0000123
13 antiphospholipid antibody positivity 32 HP:0003613
14 malar rash 32 HP:0025300

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
psychosis

Hematology:
hemolytic anemia
thrombocytopenia
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

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 10.31 BANK1 BLK C4B CR2 CTLA4 DNASE1
2 immune system MP:0005387 10.2 BANK1 BLK C4B CR2 CTLA4 DNASE1
3 homeostasis/metabolism MP:0005376 10.18 C4B CR2 CTLA4 DNASE1 ENG FCGR2B
4 cardiovascular system MP:0005385 10.13 C4B CTLA4 ENG FCGR2B IL10 PDCD1
5 endocrine/exocrine gland MP:0005379 10.09 BLK CTLA4 FCGR2B IL10 PDCD1 PTPN22
6 digestive/alimentary MP:0005381 10.06 C4B CTLA4 ENG FCGR2B IL10 PTPN22
7 mortality/aging MP:0010768 9.97 C4B CR2 CTLA4 DNASE1 ENG FCGR2A
8 liver/biliary system MP:0005370 9.86 C4B CTLA4 FCGR2B IL10 PDCD1 PTPN22
9 renal/urinary system MP:0005367 9.56 C4B CR2 DNASE1 FCGR2B PDCD1 PTPN22
10 respiratory system MP:0005388 9.23 CTLA4 ENG FCGR2B IL10 PDCD1 PTPN22

Drugs & Therapeutics for Systemic Lupus Erythematosus

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

(show top 50) (show all 488)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
2
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
3
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
4
Mycophenolic acid Approved Phase 4 24280-93-1 446541
5
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
6
chloroquine Approved, Investigational, Vet_approved Phase 4 54-05-7 2719
7
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
8
Sirolimus Approved, Investigational Phase 4 53123-88-9 6436030 5284616 46835353
9
Everolimus Approved Phase 4 159351-69-6 6442177 70789204
10
Lenalidomide Approved Phase 4 191732-72-6 216326
11
Phenytoin Approved, Vet_approved Phase 4 57-41-0 1775
12
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754
13
Vincristine Approved, Investigational Phase 4 57-22-7, 2068-78-2 5978
14
Clobetasol Approved, Experimental, Investigational Phase 4 25122-46-7, 25122-41-2 32798 5311051
15
Linaclotide Approved Phase 4 851199-59-2 65351
16
tannic acid Approved Phase 4 1401-55-4
17
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
18
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
19
Trimethoprim Approved, Vet_approved Phase 4 738-70-5 5578
20
Sulfamethoxazole Approved Phase 4 723-46-6 5329
21
Heparin Approved, Investigational Phase 4 9005-49-6 46507594 772
22
Lifitegrast Approved Phase 4 1025967-78-5
23
Angiotensin II Approved, Investigational Phase 4 11128-99-7, 68521-88-0, 4474-91-3 172198
24
Artesunate Approved, Investigational Phase 4 88495-63-0 5464098 6917864
25
Dalteparin Approved Phase 4 9005-49-6
26
Metformin Approved Phase 4 657-24-9 4091 14219
27
Leflunomide Approved, Investigational Phase 4 75706-12-6 3899
28
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
29
Pentoxifylline Approved, Investigational Phase 4 6493-05-6 4740
30
Adenosine Approved, Investigational Phase 4 58-61-7 60961
31
Simvastatin Approved Phase 4 79902-63-9 54454
32
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
33
Alfacalcidol Approved, Nutraceutical Phase 4 41294-56-8 5282181
34
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
35 Gastrointestinal Agents Phase 4
36 Antiemetics Phase 4
37 Neuroprotective Agents Phase 4
38 Prednisolone acetate Phase 4
39 Methylprednisolone Acetate Phase 4
40 Protective Agents Phase 4
41 Autonomic Agents Phase 4
42 Antibiotics, Antitubercular Phase 4
43 Antitubercular Agents Phase 4
44 Dermatologic Agents Phase 4
45 Chloroquine diphosphate Phase 4 50-63-5
46 Anti-Asthmatic Agents Phase 4
47 Angiotensin-Converting Enzyme Inhibitors Phase 4
48 Thymoglobulin Phase 4
49 Antilymphocyte Serum Phase 4
50 Rosuvastatin Calcium Phase 4 147098-20-2

Interventional clinical trials:

(show top 50) (show all 1027)
# Name Status NCT ID Phase Drugs
1 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
2 Endothelial Dysfunction in Systemic Lupus Erythematosus: Its Contribution to Abnormalities in Coronary Perfusion. Unknown status NCT00188188 Phase 4 quinipril
3 A Two-part Study Exploring the Efficacy, Safety, and Pharmacodynamics of Acthar in Systemic Lupus Erythematosus Patients With a History of Persistently Active Disease Unknown status NCT01753401 Phase 4 Acthar;Placebo for Acthar
4 Safety and Efficacy of Anti-Pandemic H1N1 Vaccination in Rheumatic Diseases Unknown status NCT01151644 Phase 4
5 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
6 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
7 Tacrolimus for the Treatment of Systemic Lupus Erythematosus With Membranous Nephritis Completed NCT00125307 Phase 4 tacrolimus
8 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
9 A Randomized, Double-blind, Placebo-controlled, Clinical Trial of Omega-3-polyunsaturated Fatty Acids in Subjects With SLE. Completed NCT00828178 Phase 4 Omega-3
10 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
11 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
12 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
13 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
14 Lupus Atherosclerosis Prevention Study Completed NCT00120887 Phase 4 Atorvastatin
15 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)
16 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
17 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
18 Long-Acting Tacrolimus for the Treatment of Resistant Lupus Nephritis Completed NCT01206569 Phase 4 Long-acting tacrolimus (Advagraf, Astellas Pharma)
19 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
20 Immunogenicity and Safety of Influenza A/H3N2 Vaccine in Patients With Rheumatologic Diseases Completed NCT03540823 Phase 4
21 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
22 Immune Response After Human Papillomavirus Vaccination in Patients With Autoimmune Disease Completed NCT00815282 Phase 4
23 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
24 To Compare the Efficacy of Tacrolimus and Mycophenolate Mofetil for the Initial Therapy of Active Lupus Nephritis Completed NCT00371319 Phase 4 tacrolimus;mycophenolate mofetil
25 Evaluation of Vaccination Against Influenza (Seasonal and H1N1) in Patients Presenting Systemic or Autoimmune Diseases Treated or Not With Steroids, and/or Immunosuppressant, and/or Biotherapy: an Open, Prospective Trial (MAIVAX) Completed NCT01065285 Phase 4
26 Renal Division, Peking University First Hospital, Institute of Nephrology, Peking University, Key Laboratory of Renal Disease Completed NCT02351752 Phase 4 Hydroxychloroquine Sulfate
27 Possible Role of Chloroquine in Conjunction to Prednisone to Induce a Complete Remission in the Treatment of Autoimmune Hepatitis: a Randomized Trial Completed NCT02463331 Phase 4 Chloroquine diphosphate;prednisone;azathioprine
28 DOUBLE-BLIND RANDOMIZED CLINICAL TRIAL WITH CHLOROQUINE VERSUS PLACEBO FOR MAINTENANCE OF REMISSION OF AUTOIMMUNE HEPATITIS Completed NCT01980745 Phase 4 Chloroquine diphosphate 250mg;Placebo
29 Estimation of Interleukin-21 Levels in Gingival Crevicular Fluid in Patients With Periodontal Health and Disease Following Non-surgical Periodontal Therapy: A Clinico-biochemical Study Completed NCT02861937 Phase 4
30 Phenytoin as an Augmentation for SSRI Failures: A Controlled Study Completed NCT00146237 Phase 4 phenytoin
31 Open Label Study of Hydroxychloroquine for Alopecia Areata, Alopecia Totalis Completed NCT00176982 Phase 4 Hydroxychloroquine
32 Effects of Atorvastatin on Disease Activity and HDL Cholesterol Anti-inflammatory Properties in Patients With Rheumatoid Arthritis Completed NCT00356473 Phase 4 Atorvastatin
33 A Multicenter, Randomized, Prospective, Open-Label Trial of Rituximab in the Treatment of Progressive IgA Nephropathy Completed NCT00498368 Phase 4 Intravenous Rituximab;ACE/ARB
34 A Prospective, Randomized, Open Label, Case-Controlled Study on the Efficacy of Mycophenolate Mofetil for IgA Nephropathy Patients With Heavy Proteinuria Despite Angiotensin Blockade Completed NCT00863252 Phase 4 mycophenolate mofetil;angiotensin blockade
35 Management of Pain in Oral Lichen Planus Patients: A Comparative Pilot Study Completed NCT03572959 Phase 4 0.1 % topical triamcinolone acetonide
36 Phase II Study To Evaluate The Safety And Efficacy Of Lenalidomide For The Treatment Of Refractory Cutaneous Lupus Completed NCT01408199 Phase 4 Lenalidomide
37 Molecular and Cellular Mechanism in Rhinitis Allergic Patients Treated With GRAZAX® Completed NCT02437786 Phase 4 GRAZAX
38 Safety and Efficacy of Pletal (Cilostazol) for the Treatment of Juvenile Primary and Secondary Raynaud’s Phenomenon Completed NCT00048776 Phase 4 Pletal
39 Reposition of Second Line Treatment in Chronic Immune Thrombocytopenia Completed NCT03229746 Phase 4 Hydroxychloroquine;vincristine;azathioprine
40 Steroid-induced Mood Changes in Patients With Inflammatory Bowel Disease Completed NCT01981889 Phase 4 Prednisone
41 A Phase IV, Open Label Study to Evaluate the Safety and Efficacy of Intramuscular (IM) Alefacept (Amevive) 15mg/wk in Subjects 18 Years and Older With Moderate to Severe Atopic Dermatitis Completed NCT00832585 Phase 4 Alefacept
42 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
43 Single-dose Linaclotide for Capsule Endoscopy Preparation Completed NCT02465385 Phase 4 Linaclotide
44 Pilot Open-Label Clinical Trial to Test Efficacy and Safety of Combination of Clobex® Spray With Excimer Laser Therapy [Photomedex XTRAC ® Velocity] in the Treatment of Generalized Plaque Psoriasis Followed by Maintenance With Topical Vectical® Ointment Completed NCT01012713 Phase 4 Clobex Spray;Vectical Ointment
45 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
46 A Multicenter, Randomized, Double Blind, Placebo Controlled Study to Assess the Efficacy and Safety of H.P. Acthar® Gel in Subjects With Persistently Active Systemic Lupus Erythematosus Despite Moderate Dose Corticosteroids Recruiting NCT02953821 Phase 4 Repository corticotropin injection;Placebo gel
47 Efficacy, Safety, and Steroid Sparing Effect of Acthar in Patients With Hematologic Manifestations of Systemic Lupus Erythematosus Recruiting NCT02779153 Phase 4 Acthar low dose (40 U);Acthar high dose (80 U)
48 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
49 Efficacy and Infectious Complications of Induction Therapy With Low-dose Versus High-dose Intravenous Cyclophosphamide for Proliferative Lupus Nephritis in Children Recruiting NCT01861561 Phase 4 Low-dose intravenous cyclophosphamide;High-dose intravenous cyclophosphamide
50 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

Search NIH Clinical Center for Systemic Lupus Erythematosus

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Acetylsalicylic acid
Azathioprine
Azathioprine
Betamethasone
Bupivacaine
Chloroquine
Chloroquine hydrochloride
chloroquine phosphate
Ciclosporin
Corticotropin
Cortisone acetate
Cyclophosphamide
Cyclophosphamide
Cyclosporine
Dexamethasone
Hydrocortisone
Hydroxychloroquine
Hydroxychloroquine
Hydroxychloroquine Sulfate
Methotrexate
Methylprednisolone
prasterone
Prednisolone
Prednisone
Thalidomide
Triamcinolone
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

Anatomical Context for Systemic Lupus Erythematosus

MalaCards organs/tissues related to Systemic Lupus Erythematosus:

41
T Cells, Kidney, B Cells, Skin, Bone, Heart, Testes
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 36528)
# Title Authors PMID Year
1
CTLA-4 polymorphisms and systemic lupus erythematosus (SLE): a meta-analysis. 9 38 8 71
15688186 2005
2
Common DNase I polymorphism associated with autoantibody production among systemic lupus erythematosus patients. 9 38 8 71
15333586 2004
3
Evidence for CTLA4 as a susceptibility gene for systemic lupus erythematosus. 9 38 8 71
15138458 2004
4
Mutation of DNASE1 in people with systemic lupus erythematosus. 9 38 8 71
11479590 2001
5
A defunctioning polymorphism in FCGR2B is associated with protection against malaria but susceptibility to systemic lupus erythematosus. 38 8 71
20385827 2010
6
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus. 38 8 71
17660818 2007
7
Meta-analysis of TNF-alpha promoter -308 A/G polymorphism and SLE susceptibility. 9 8 71
16418737 2006
8
Loss of function of a lupus-associated FcgammaRIIb polymorphism through exclusion from lipid rafts. 38 8 71
16170323 2005
9
Decreased transcription of the human FCGR2B gene mediated by the -343 G/C promoter polymorphism and association with systemic lupus erythematosus. 38 8 71
15895258 2005
10
Fcgamma receptor gene polymorphisms in Japanese patients with systemic lupus erythematosus: contribution of FCGR2B to genetic susceptibility. 38 8 71
12115230 2002
11
Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE. 8 71
15273934 2004
12
A loss-of-function variant of PTPN22 is associated with reduced risk of systemic lupus erythematosus. 9 38 8
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. 9 38 8
16642019 2006
14
Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus. 9 38 8
15657875 2005
15
CD72 polymorphisms associated with alternative splicing modify susceptibility to human systemic lupus erythematosus through epistatic interaction with FCGR2B. 9 38 71
15459183 2004
16
A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans. 9 38 8
12402038 2002
17
Induction of dendritic cell differentiation by IFN-alpha in systemic lupus erythematosus. 9 38 8
11711679 2001
18
Molecular basis of deficient IL-2 production in T cells from patients with systemic lupus erythematosus. 9 38 8
11238674 2001
19
Association of IL-6 gene alleles with systemic lupus erythematosus (SLE) and with elevated IL-6 expression. 9 38 8
11197305 1999
20
Fc gamma RIIA alleles are heritable risk factors for lupus nephritis in African Americans. 9 38 71
8636449 1996
21
Akt-dependent enhanced migratory capacity of Th17 cells from children with lupus nephritis. 38 8
25339666 2014
22
CSK regulatory polymorphism is associated with systemic lupus erythematosus and influences B-cell signaling and activation. 38 8
23042117 2012
23
Regulatory polymorphisms in EGR2 are associated with susceptibility to systemic lupus erythematosus. 38 8
20194224 2010
24
Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus. 38 8
19838193 2009
25
A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. 38 8
19838195 2009
26
Identification of a new putative functional IL18 gene variant through an association study in systemic lupus erythematosus. 38 8
19584085 2009
27
High alpha-defensin levels in patients with systemic lupus erythematosus. 38 8
19191901 2009
28
Multiple polymorphisms in the TNFAIP3 region are independently associated with systemic lupus erythematosus. 38 8
19165919 2008
29
Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus. 38 8
19165918 2008
30
Copy number of FCGR3B, which is associated with systemic lupus erythematosus, correlates with protein expression and immune complex uptake. 38 8
18559452 2008
31
Transcript levels of DNA methyltransferases DNMT1, DNMT3A and DNMT3B in CD4+ T cells from patients with systemic lupus erythematosus. 38 8
18194272 2008
32
Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX. 38 8
18204098 2008
33
Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. 38 8
18204446 2008
34
Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus. 38 8
18204447 2008
35
A nonsynonymous functional variant in integrin-alpha(M) (encoded by ITGAM) is associated with systemic lupus erythematosus. 38 8
18204448 2008
36
A functional SNP in the NKX2.5-binding site of ITPR3 promoter is associated with susceptibility to systemic lupus erythematosus in Japanese population. 38 8
18219441 2008
37
Identification of a significant association of a single nucleotide polymorphism in TNXB with systemic lupus erythematosus in a Japanese population. 38 8
18058064 2008
38
Polymorphism at the TNF superfamily gene TNFSF4 confers susceptibility to systemic lupus erythematosus. 38 8
18059267 2008
39
STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus. 38 8
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. 38 8
17503323 2007
41
Systemic lupus erythematosus-associated defects in the inhibitory receptor FcgammaRIIb reduce susceptibility to malaria. 38 71
17435165 2007
42
Association of a common complement receptor 2 haplotype with increased risk of systemic lupus erythematosus. 38 8
17360460 2007
43
Systemic lupus erythematosus susceptibility loci defined by genome scan meta-analysis. 38 8
16208513 2005
44
Genetic linkage of systemic lupus erythematosus to 13q32 in African American families with affected male members. 38 8
16189706 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. 38 71
16115811 2005
46
CD226 expression deficiency causes high sensitivity to apoptosis in NK T cells from patients with systemic lupus erythematosus. 38 8
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. 38 8
15153543 2004
48
Polymorphism at the C-reactive protein locus influences gene expression and predisposes to systemic lupus erythematosus. 38 8
14645206 2004
49
Gain-of-function polymorphism in mouse and human Ltk: implications for the pathogenesis of systemic lupus erythematosus. 38 8
14695357 2004
50
Triplets with systemic lupus erythematosus. 38 8
14613280 2003

Variations for Systemic Lupus Erythematosus

ClinVar genetic disease variations for Systemic Lupus Erythematosus:

6 (show all 26)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 FCGR2B NM_004001.4(FCGR2B): c.695T> C (p.Ile232Thr) single nucleotide variant protective,risk factor rs1050501 1:161643798-161643798 1:161674008-161674008
2 ENG NM_000118.3(ENG): c.816+6T> C single nucleotide variant Pathogenic rs759191907 9:130587504-130587504 9:127825225-127825225
3 BLK NM_001715.3(BLK): c.391C> T (p.Arg131Trp) single nucleotide variant Pathogenic 8:11407690-11407690 8:11550181-11550181
4 BLK NM_001715.3(BLK): c.919C> G (p.Pro307Ala) single nucleotide variant Pathogenic 8:11414313-11414313 8:11556804-11556804
5 BLK NM_001715.3(BLK): c.1048T> C (p.Tyr350His) single nucleotide variant Pathogenic 8:11418829-11418829 8:11561320-11561320
6 BLK NM_001715.3(BLK): c.1075C> T (p.Arg359Cys) single nucleotide variant Pathogenic 8:11418856-11418856 8:11561347-11561347
7 FCGR2B NM_004001.4(FCGR2B): c.-386G> C single nucleotide variant risk factor rs3219018 1:161632646-161632646 1:161662856-161662856
8 PTPN22 NM_015967.7(PTPN22): c.1858C> T (p.Arg620Trp) single nucleotide variant risk factor rs2476601 1:114377568-114377568 1:113834946-113834946
9 TNF TNF, -308G-A single nucleotide variant risk factor
10 FCGR2A NM_021642.4(FCGR2A): c.497A> G (p.His166Arg) single nucleotide variant drug response rs1801274 1:161479745-161479745 1:161509955-161509955
11 DNASE1 NM_005223.3(DNASE1): c.13A> T (p.Lys5Ter) single nucleotide variant risk factor rs121912990 16:3705387-3705387 16:3655386-3655386
12 DNASE1 NM_005223.3(DNASE1): c.731G> A (p.Arg244Gln) single nucleotide variant risk factor rs1053874 16:3707747-3707747 16:3657746-3657746
13 TREX1 NM_033629.6(TREX1): c.340C> T (p.Arg114Cys) single nucleotide variant Likely pathogenic rs760838030 3:48508394-48508394 3:48466995-48466995
14 BLK NM_001715.3(BLK): c.713G> A (p.Arg238Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs141865425 8:11412934-11412934 8:11555425-11555425
15 CTLA4 NM_005214.5(CTLA4): c.410C> T (p.Pro137Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs1553657429 2:204735609-204735609 2:203870886-203870886
16 TREX1 NM_033629.6(TREX1): c.341G> A (p.Arg114His) single nucleotide variant Conflicting interpretations of pathogenicity rs72556554 3:48508395-48508395 3:48466996-48466996
17 TREX1 NM_033629.6(TREX1): c.923C> G (p.Ser308Cys) single nucleotide variant Uncertain significance rs769885715 3:48508977-48508977 3:48467578-48467578
18 TREX1 NM_033629.6(TREX1): c.218C> T (p.Pro73Leu) single nucleotide variant Uncertain significance rs755919767 3:48508272-48508272 3:48466873-48466873
19 BLK NM_001715.3(BLK): c.116C> T (p.Pro39Leu) single nucleotide variant Likely benign rs142352008 8:11400849-11400849 8:11543340-11543340
20 BANK1 NM_017935.5(BANK1): c.120G> C (p.Trp40Cys) single nucleotide variant Benign 4:102751014-102751014 4:101829857-101829857
21 BLK NM_001715.3(BLK): c.164A> G (p.His55Arg) single nucleotide variant Benign 8:11403601-11403601 8:11546092-11546092
22 BLK NM_001715.3(BLK): c.252G> C (p.Lys84Asn) single nucleotide variant Benign 8:11405617-11405617 8:11548108-11548108
23 BLK NM_001715.3(BLK): c.301G> A (p.Val101Ile) single nucleotide variant Benign 8:11406564-11406564 8:11549055-11549055
24 BLK NM_001715.3(BLK): c.344G> A (p.Arg115Gln) single nucleotide variant Benign 8:11406607-11406607 8:11549098-11549098
25 CTLA4 NM_005214.5(CTLA4): c.49A> G (p.Thr17Ala) single nucleotide variant Benign rs231775 2:204732714-204732714 2:203867991-203867991
26 BLK NM_001715.3(BLK): c.392G> A (p.Arg131Gln) single nucleotide variant Benign 8:11407691-11407691 8:11550182-11550182

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

74
# 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 Chromosom 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 T-bet 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 IL-12B 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 C4 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 C4 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 DEFB4 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, sialoadhesin 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:

37
# Name Kegg Source Accession
1 Systemic lupus erythematosus hsa05322

GO Terms for Systemic Lupus Erythematosus

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

# Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 8.92 PDCD1 FCGR2B ENG CTLA4

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.83 TLR5 IRF5 CR2 C4B C4A
2 regulation of complement activation GO:0030449 9.67 CR2 C4B C4A
3 inflammatory response GO:0006954 9.55 TLR5 IL10 FCGR2B C4B C4A
4 regulation of innate immune response GO:0045088 9.48 PTPN22 FCGR2B
5 negative regulation of immune response GO:0050777 9.46 FCGR2B CTLA4
6 regulation of B cell receptor signaling pathway GO:0050855 9.4 PTPN22 BLK
7 negative regulation of interleukin-6 secretion GO:1900165 9.37 PTPN22 BANK1
8 negative regulation of B cell activation GO:0050869 9.32 FCGR2B BANK1
9 positive regulation of apoptotic cell clearance GO:2000427 9.26 C4B C4A
10 immune system process GO:0002376 9.17 TLR5 PTPN22 IRF5 CTLA4 CR2 C4B
11 negative regulation of B cell proliferation GO:0030889 9.13 IL10 FCGR2B CTLA4

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

# Name GO ID Score Top Affiliating Genes
1 protein tyrosine kinase binding GO:1990782 9.16 PTPN22 BANK1
2 IgG binding GO:0019864 8.96 FCGR2B FCGR2A
3 complement binding GO:0001848 8.62 CR2 C4B

Sources for Systemic Lupus Erythematosus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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