SLE
MCID: SYS001
MIFTS: 87

Systemic Lupus Erythematosus (SLE)

Categories: Bone diseases, Genetic diseases, Immune diseases, Nephrological diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Systemic Lupus Erythematosus

MalaCards integrated aliases for Systemic Lupus Erythematosus:

Name: Systemic Lupus Erythematosus 57 11 42 58 75 73 28 5 2 14 36 31 33
Lupus Nephritis 57 11 19 53 43 14 16 71 75
Sle 57 42 58 73 2
Disseminated Lupus Erythematosus 11 42 58 33
Systemic Lupus Erythematosus, Susceptibility to 57 28 5
Lupus Erythematosus, Systemic 11 43 71
Lupus Nephritis, Susceptibility to 57 5
Libman-Sacks Disease 42 71
Lupus Erythematosus, Systemic, Susceptibility to 38
Systemic Lupus Erythematosus Susceptibility to 57
Sle - [systemic Lupus Erythematosus] 33
Sle - Lupus Erythematosus, Systemic 11
Systemic Lupus Erythematosus Nos 33
Lupus Erythematosus Systemic 53
Lupus Erythematosus, Discoid 71
Lupus Erythematosus 71
Lupus Vulgaris 71
Le Syndrome 42
Lupus 42

Characteristics:


Inheritance:

Autosomal dominant 57

Prevelance:

1-5/10000 (France, New Zealand, Korea, Republic of, United States, Taiwan, Province of China, Europe, Finland) 6-9/10000 (Martinique) 58

OMIM®:

57 (Updated 24-Oct-2022)
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


Classifications:

Orphanet: 58  
Rare renal diseases
Rare systemic and rhumatological diseases


External Ids:

Disease Ontology 11 DOID:0080162 DOID:9074
OMIM® 57 152700
ICD9CM 34 710.0
NCIt 49 C3201
SNOMED-CT 68 156450004
ICD10 31 M32 M32.1 M32.9
MESH via Orphanet 44 D008180
ICD10 via Orphanet 32 M32.0 M32.1 M32.8 more
Orphanet 58 ORPHA536
UMLS 71 C0024131 C0024138 C0024141 more

Summaries for Systemic Lupus Erythematosus

MedlinePlus Genetics: 42 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 exanthema, pruritus and lupus-like rash. An important gene associated with Systemic Lupus Erythematosus is TREX1 (Three Prime Repair Exonuclease 1), and among its related pathways/superpathways are Innate Immune System and NF-kappaB Signaling. The drugs Sulfamethoxazole and Trimethoprim have been mentioned in the context of this disorder. Affiliated tissues include Umbilical Cord, bone marrow and skin, and related phenotypes are lupus nephritis and arthritis

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 24-Oct-2022)

CDC: 2 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.

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology 11 Systemic lupus erythematosus: 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.

Lupus nephritis: A glomerulonephritis that is characterized by inflammation of the kidneys resulting from systemic lupus erythematosus.

GARD: 19 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.

Wikipedia 75 Systemic lupus erythematosus: Lupus, technically known as systemic lupus erythematosus (SLE), is an autoimmune disease in which the... more...

Lupus nephritis: Lupus nephritis is an inflammation of the kidneys caused by systemic lupus erythematosus (SLE), an... more...

Related Diseases for Systemic Lupus Erythematosus

Diseases in the Lupus Erythematosus family:

Systemic Lupus Erythematosus Systemic Lupus Erythematosus 15
Systemic Lupus Erythematosus 17 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 2822)
# Related Disease Score Top Affiliating Genes
1 lupus erythematosus 35.2 TREX1 TNFSF4 STAT4 PTPN22 PDCD1 FCGR2B
2 autoimmune disease 34.2 STAT4 PTPN22 PDCD1 FCGR2B FCGR2A DNASE1
3 systemic lupus erythematosus 16 33.9 DNASE1 C4A
4 vitiligo-associated multiple autoimmune disease susceptibility 1 33.8 PTPN22 PDCD1 CTLA4 C4B
5 rheumatoid arthritis 33.3 STAT4 PTPN22 PDCD1 MALAT1 FCGR2B FCGR2A
6 thrombocytopenia 33.3 TLR7 PTPN22 PDCD1 FCGR2B FCGR2A ENG
7 aicardi-goutieres syndrome 33.2 TREX1 TLR7 DNASE1
8 chilblain lupus 1 33.1 TREX1 TLR7 ATRIP-TREX1 ATRIP
9 complement factor i deficiency 33.0 C4B C4A
10 immunodeficiency due to a classical component pathway complement deficiency 32.8 C4B C4A
11 immune deficiency disease 32.8 STAT4 PDCD1 NEAT1 MALAT1 FCGR2A DNASE1
12 autoimmune hepatitis 32.5 PTPN22 PDCD1 CTLA4 C4A
13 myasthenia gravis 32.4 PTPN22 FCGR2A CTLA4
14 aseptic meningitis 32.3 CTLA4 C4B C4A
15 hypersensitivity reaction type iii disease 32.2 FCGR2B FCGR2A C4B C4A
16 malaria 32.2 PDCD1 FCGR2B FCGR2A ENG CTLA4 CR2
17 behcet syndrome 32.2 STAT4 PTPN22 CTLA4 C4A
18 thrombotic microangiopathy 32.2 TREX1 ATRIP-TREX1 ATRIP
19 common variable immunodeficiency 32.1 TNFSF4 FCGR2B CTLA4 CR2 BLK
20 type 1 diabetes mellitus 32.0 PTPN22 PDCD1 CTLA4 C4A
21 leukemia, chronic lymphocytic 31.9 TLR7 PDCD1 NEAT1 CTLA4 CR2
22 temporal arteritis 31.8 PTPN22 PDCD1 CTLA4
23 scleritis 31.7 TNFSF4 PTPN22 CTLA4
24 visual epilepsy 31.6 NEAT1 MALAT1
25 coronary aneurysm 31.3 FCGR2A BLK
26 vascular dementia 31.2 TREX1 ATRIP-TREX1 ATRIP
27 aicardi-goutieres syndrome 1 31.2 TREX1 ATRIP-TREX1 ATRIP
28 granulomatous hepatitis 31.2 PDCD1 CTLA4
29 primary thrombocytopenia 31.0 FCGR2B FCGR2A CTLA4
30 familial chilblain lupus 30.7 TREX1 ATRIP-TREX1 ATRIP
31 vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations 30.7 TREX1 ATRIP-TREX1 ATRIP
32 human immunodeficiency virus infectious disease 30.6 TLR7 PDCD1 CR2
33 oligoarticular juvenile idiopathic arthritis 30.4 STAT4 PTPN22
34 complement component 5 deficiency 29.8 C4B C4A
35 systemic lupus erythematosus 1 12.3
36 systemic lupus erythematosus 17 11.8
37 neonatal systemic lupus erythematosus 11.8
38 pediatric systemic lupus erythematosus 11.7
39 systemic lupus erythematosus 2 11.7
40 systemic lupus erythematosus 10 11.7
41 libman-sacks endocarditis 11.7
42 systemic lupus erythematosus 9 11.7
43 systemic lupus erythematosus 6 11.7
44 systemic lupus erythematosus 11 11.7
45 drug-induced lupus erythematosus 11.7
46 mixed connective tissue disease 11.7
47 systemic lupus erythematosus with hemolytic anemia 1 11.7
48 sjogren syndrome 11.7
49 c1q deficiency 11.6
50 systemic lupus erythematosus 3 11.6

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 Disease 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:

30 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 lupus nephritis 30 Very rare (1%) HP:0033726
2 arthritis 30 HP:0001369
3 thrombocytopenia 30 HP:0001873
4 hemolytic anemia 30 HP:0001878
5 pericarditis 30 HP:0001701
6 cutaneous photosensitivity 30 HP:0000992
7 psychosis 30 HP:0000709
8 leukopenia 30 HP:0001882
9 pleuritis 30 HP:0002102
10 antiphospholipid antibody positivity 30 HP:0003613
11 systemic lupus erythematosus 30 HP:0002725
12 antinuclear antibody positivity 30 HP:0003493
13 nephritis 30 HP:0000123
14 malar rash 30 HP:0025300
15 seizure 30 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
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 24-Oct-2022)

UMLS symptoms related to Systemic Lupus Erythematosus:


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

MGI Mouse Phenotypes related to Systemic Lupus Erythematosus:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.34 ATRIP C4A C4B CR2 CTLA4 DNASE1
2 renal/urinary system MP:0005367 10.26 C4A C4B CR2 DNASE1 ENG FCGR2A
3 immune system MP:0005387 10.16 BLK C4A C4B CR2 CTLA4 DNASE1
4 liver/biliary system MP:0005370 10.11 C4A C4B CTLA4 FCGR2A FCGR2B PDCD1
5 endocrine/exocrine gland MP:0005379 10.1 BLK CTLA4 FCGR2A FCGR2B NEAT1 PDCD1
6 cardiovascular system MP:0005385 10.1 C4A C4B CTLA4 DNASE1 ENG FCGR2A
7 digestive/alimentary MP:0005381 10.07 C4A C4B CTLA4 ENG FCGR2A FCGR2B
8 hematopoietic system MP:0005397 9.83 BLK C4A C4B CR2 CTLA4 DNASE1
9 respiratory system MP:0005388 9.76 CTLA4 ENG FCGR2A FCGR2B PDCD1 PTPN22
10 mortality/aging MP:0010768 9.5 ATRIP C4A C4B CR2 CTLA4 DNASE1

Drugs & Therapeutics for Systemic Lupus Erythematosus

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

(show top 50) (show all 352)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sulfamethoxazole Approved Phase 4 723-46-6 5329
2
Trimethoprim Approved, Vet_approved Phase 4 738-70-5 5578
3
Ibandronate Approved, Investigational Phase 4 114084-78-5 60852
4
Metformin Approved Phase 4 1115-70-4, 657-24-9 4091
5
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
6
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
7
Thalidomide Approved, Investigational, Withdrawn Phase 4 50-35-1 5426
8
Lenalidomide Approved Phase 4 191732-72-6 216326
9
Belimumab Approved Phase 4 356547-88-1
10
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
11
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
12
Prednisolone Approved, Vet_approved Phase 4 50-24-8 4894 5755
13
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5 1875
14
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 4159 6741
15
Artesunate Approved, Investigational Phase 4 88495-63-0 6917864 5464098
16
Cyclophosphamide Approved, Investigational Phase 4 50-18-0, 6055-19-2 2907
17
Simvastatin Approved Phase 4 79902-63-9 54454
18
Alfacalcidol Approved, Nutraceutical Phase 4 41294-56-8 5282181
19
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7 4897
20 Cytochrome P-450 Enzyme Inhibitors Phase 4
21 Trimethoprim, Sulfamethoxazole Drug Combination Phase 4
22
Rosuvastatin Calcium Phase 4 147098-20-2
23 Omega 3 Fatty Acid Phase 4
24 Hydroxycholecalciferols Phase 4
25 Estrogens Phase 4
26 Hypoglycemic Agents Phase 4
27 Estrogens, Conjugated (USP) Phase 4
28
Triamcinolone hexacetonide Phase 4
29
Triamcinolone diacetate Phase 4
30
Triamcinolone Acetonide Phase 4 6436
31 Heptavalent Pneumococcal Conjugate Vaccine Phase 4
32 Angiogenesis Inhibitors Phase 4
33 Cholinesterase Inhibitors Phase 4
34 Cholinergic Agents Phase 4
35
Dimethoate Phase 4 3082
36
Methylprednisolone Acetate Phase 4 584547
37 Antiviral Agents Phase 4
38 Anthelmintics Phase 4
39 Complement C3 Phase 4
40 Vaccines Phase 4
41 Lipid Regulating Agents Phase 4
42 Anticholesteremic Agents Phase 4
43 Hypolipidemic Agents Phase 4
44 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
45 Antineoplastic Agents, Alkylating Phase 4
46 Alkylating Agents Phase 4
47
Ramipril Approved Phase 2, Phase 3 87333-19-5 5362129
48
Obinutuzumab Approved, Investigational Phase 3 949142-50-1
49
Aldesleukin Approved Phase 3 110942-02-4
50
Mycophenolic acid Approved, Investigational Phase 3 24280-93-1 446541

Interventional clinical trials:

(show top 50) (show all 984)
# Name Status NCT ID Phase Drugs
1 Safety and Efficacy of Anti-Pandemic H1N1 Vaccination in Rheumatic Diseases Unknown status NCT01151644 Phase 4
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 Endothelial Dysfunction in Systemic Lupus Erythematosus: Its Contribution to Abnormalities in Coronary Perfusion. Unknown status NCT00188188 Phase 4 quinipril
4 Evaluation of Belimumab Impact on a BLyS Activity Signature Test in the Absence of Confounding Polypharmacy Unknown status NCT02270970 Phase 4
5 Prophylactic Trimethoprim-Sulfamethoxazole for the Prevention of Serious Infections in Patients With Systemic Lupus Erythematosus: a Randomized Placebo Controlled Trial Unknown status NCT03042260 Phase 4 Trimethoprim-Sulfamethoxazole;Placebo Oral Tablet
6 Metformin In Prevention Of Lupus Nephritis In High Risk Patients Unknown status NCT04145687 Phase 4 Metformin
7 Immune Response After Human Papillomavirus Vaccination in Patients With Autoimmune Disease Completed NCT00815282 Phase 4
8 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
9 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
10 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
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 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
13 Lupus Atherosclerosis Prevention Study Completed NCT00120887 Phase 4 Atorvastatin
14 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
15 A Randomized, Double-blind, Placebo-controlled, Clinical Trial of Omega-3-polyunsaturated Fatty Acids in Subjects With SLE. Completed NCT00828178 Phase 4 Omega-3
16 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
17 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
18 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)
19 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
20 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
21 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 Completed NCT03122431 Phase 4 Thalidomide;Hydroxychloroquine reduced;standard dose of HCQ
22 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
23 Immunogenicity and Safety of a Herpes Zoster Vaccine (Zostavax) in Patients With Systemic Lupus Erythematosus: a Randomized Controlled Trial Completed NCT02477150 Phase 4
24 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
25 A Single Arm, 24 Weeks, Pilot Study of Belimumab In Treatment of Early Systemic Lupus Erythematosus Completed NCT04956484 Phase 4 Standard of care
26 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
27 Tacrolimus for the Treatment of Systemic Lupus Erythematosus With Membranous Nephritis Completed NCT00125307 Phase 4 tacrolimus
28 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
29 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
30 Comparison Between Mycophenolate andCyclophosphamide in the Treatment of Lupus Nephritis Completed NCT04424602 Phase 4 cyclo phosphamide;mycophenolate
31 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
32 Long-Acting Tacrolimus for the Treatment of Resistant Lupus Nephritis Completed NCT01206569 Phase 4 Long-acting tacrolimus (Advagraf, Astellas Pharma)
33 Efficacy of Lower Dose Prednisolone in the Induction of Remission of Lupus Nephritis Completed NCT04146220 Phase 4 Prednisolone
34 To Compare the Efficacy of Tacrolimus and Mycophenolate Mofetil for the Initial Therapy of Active Lupus Nephritis Completed NCT00371319 Phase 4 tacrolimus;mycophenolate mofetil
35 Phase II Study To Evaluate The Safety And Efficacy Of Lenalidomide For The Treatment Of Refractory Cutaneous Lupus Completed NCT01408199 Phase 4 Lenalidomide
36 Immunogenicity and Safety of Influenza A/H3N2 Vaccine in Patients With Rheumatologic Diseases Completed NCT03540823 Phase 4
37 Combined Pneumococcal Conjugate and Polysaccharide Vaccination in Inflammatory Rheumatic Disease. Impact of Antirheumatic Treatment on Antibody Response. Completed NCT03762824 Phase 4
38 A Multi-Center, Open-Label Study to Evaluate Safety, Efficacy and Pharmacokinetics of Belimumab Plus Standard Therapy in Chinese Paediatric Patients With Active Systemic Lupus Erythematosus (SLE) Recruiting NCT04908865 Phase 4 Belimumab;Standard therapy
39 Sequential Belimumab Followed by T-cell Based Therapy in the Treatment of Systemic Lupus Erythematosus (SUBTLE) - a Preliminary Proof-of-concept Mechanistic Study Recruiting NCT04447053 Phase 4 Belimumab Injection [Benlysta]
40 Efficacy and Safety of Belimumab for Prevention of Disease Flares in SLE Patients With Low Disease Activity Recruiting NCT04515719 Phase 4
41 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
42 Mycophenolate Mofetil Versus Cyclophosphamide in the Induction Therapy of Pediatric Patients With Active Proliferative Lupus Nephritis: A Prospective, Randomized, Multicenter, Open-label, Parallel-arm Study Recruiting NCT05495893 Phase 4 Cyclophosphamide;Mycophenolate Mofetil
43 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
44 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
45 Minimizing Glucocorticoid Administration in Patients With Proliferative Lupus Nephritis During the Induction of Remission Period-EUROLUPUS vs. RITUXILUP Regimen: A Randomized Study Recruiting NCT05207358 Phase 4 Rituximab;Mycophenolate Mofetil;Cyclophosphamide;Corticosteroids
46 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
47 Pilot Trial of Belimumab in Early Lupus Recruiting NCT03543839 Phase 4
48 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
49 A Model to Early Predict the Response of Belimumab Treatment in the Patients With Systemic Lupus Erythematosus Not yet recruiting NCT04893161 Phase 4 Belimumab
50 A Multicenter, Randomized, Double-Blind, Placebo-Controlled, Non-inferiority Crossover Study Evaluating the Safety and Immunogenicity of the Herpes Zoster Subunit Vaccine in Patients With Systemic Lupus Erythematosus Not yet recruiting NCT05559671 Phase 4

Search NIH Clinical Center for Systemic Lupus Erythematosus

Inferred drug relations via UMLS 71 / NDF-RT 50 :


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 28 CTLA4 DNASE1 FCGR2A FCGR2B PTPN22 TREX1
2 Systemic Lupus Erythematosus, Susceptibility to 28

Anatomical Context for Systemic Lupus Erythematosus

Organs/tissues related to Systemic Lupus Erythematosus:

MalaCards : Bone Marrow, Skin, Kidney, Heart, Bone, T Cells, B Cells
ODiseA: Blood And Bone Marrow, Respiratory System-Lung, Respiratory System, Kidney
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 46628)
# Title Authors PMID Year
1
CTLA-4 polymorphisms and systemic lupus erythematosus (SLE): a meta-analysis. 53 62 57 5
15688186 2005
2
Common DNase I polymorphism associated with autoantibody production among systemic lupus erythematosus patients. 53 62 57 5
15333586 2004
3
Evidence for CTLA4 as a susceptibility gene for systemic lupus erythematosus. 53 62 57 5
15138458 2004
4
Mutation of DNASE1 in people with systemic lupus erythematosus. 53 62 57 5
11479590 2001
5
A defunctioning polymorphism in FCGR2B is associated with protection against malaria but susceptibility to systemic lupus erythematosus. 62 57 5
20385827 2010
6
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus. 62 57 5
17660818 2007
7
Meta-analysis of TNF-alpha promoter -308 A/G polymorphism and SLE susceptibility. 53 57 5
16418737 2006
8
Loss of function of a lupus-associated FcgammaRIIb polymorphism through exclusion from lipid rafts. 62 57 5
16170323 2005
9
Decreased transcription of the human FCGR2B gene mediated by the -343 G/C promoter polymorphism and association with systemic lupus erythematosus. 62 57 5
15895258 2005
10
Fcgamma receptor gene polymorphisms in Japanese patients with systemic lupus erythematosus: contribution of FCGR2B to genetic susceptibility. 62 57 5
12115230 2002
11
Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE. 57 5
15273934 2004
12
A loss-of-function variant of PTPN22 is associated with reduced risk of systemic lupus erythematosus. 53 62 57
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. 53 62 57
16642019 2006
14
Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus. 53 62 57
15657875 2005
15
CD72 polymorphisms associated with alternative splicing modify susceptibility to human systemic lupus erythematosus through epistatic interaction with FCGR2B. 53 62 5
15459183 2004
16
A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans. 53 62 57
12402038 2002
17
Induction of dendritic cell differentiation by IFN-alpha in systemic lupus erythematosus. 53 62 57
11711679 2001
18
Molecular basis of deficient IL-2 production in T cells from patients with systemic lupus erythematosus. 53 62 57
11238674 2001
19
Association of IL-6 gene alleles with systemic lupus erythematosus (SLE) and with elevated IL-6 expression. 53 62 57
11197305 1999
20
Fc gamma RIIA alleles are heritable risk factors for lupus nephritis in African Americans. 53 62 5
8636449 1996
21
Microglia-dependent synapse loss in type I interferon-mediated lupus. 62 57
28614301 2017
22
Identification of the SLAM Adapter Molecule EAT-2 as a Lupus-Susceptibility Gene That Acts through Impaired Negative Regulation of Dendritic Cell Signaling. 62 57
26432891 2015
23
Akt-dependent enhanced migratory capacity of Th17 cells from children with lupus nephritis. 62 57
25339666 2014
24
CSK regulatory polymorphism is associated with systemic lupus erythematosus and influences B-cell signaling and activation. 62 57
23042117 2012
25
Regulatory polymorphisms in EGR2 are associated with susceptibility to systemic lupus erythematosus. 62 57
20194224 2010
26
TLR recognition of self nucleic acids hampers glucocorticoid activity in lupus. 62 57
20559388 2010
27
A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. 62 57
19838195 2009
28
Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus. 62 57
19838193 2009
29
Identification of a new putative functional IL18 gene variant through an association study in systemic lupus erythematosus. 62 57
19584085 2009
30
High alpha-defensin levels in patients with systemic lupus erythematosus. 62 57
19191901 2009
31
Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus. 62 57
19165918 2008
32
Multiple polymorphisms in the TNFAIP3 region are independently associated with systemic lupus erythematosus. 62 57
19165919 2008
33
Copy number of FCGR3B, which is associated with systemic lupus erythematosus, correlates with protein expression and immune complex uptake. 62 57
18559452 2008
34
Transcript levels of DNA methyltransferases DNMT1, DNMT3A and DNMT3B in CD4+ T cells from patients with systemic lupus erythematosus. 62 57
18194272 2008
35
A nonsynonymous functional variant in integrin-alpha(M) (encoded by ITGAM) is associated with systemic lupus erythematosus. 62 57
18204448 2008
36
Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus. 62 57
18204447 2008
37
Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX. 62 57
18204098 2008
38
Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. 62 57
18204446 2008
39
Identification of a significant association of a single nucleotide polymorphism in TNXB with systemic lupus erythematosus in a Japanese population. 62 57
18058064 2008
40
Polymorphism at the TNF superfamily gene TNFSF4 confers susceptibility to systemic lupus erythematosus. 62 57
18059267 2008
41
A functional SNP in the NKX2.5-binding site of ITPR3 promoter is associated with susceptibility to systemic lupus erythematosus in Japanese population. 62 57
18219441 2008
42
STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus. 62 57
17804842 2007
43
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. 62 57
17503323 2007
44
Systemic lupus erythematosus-associated defects in the inhibitory receptor FcgammaRIIb reduce susceptibility to malaria. 62 5
17435165 2007
45
Association of a common complement receptor 2 haplotype with increased risk of systemic lupus erythematosus. 62 57
17360460 2007
46
Human lupus autoantibodies against NMDA receptors mediate cognitive impairment. 62 57
17170137 2006
47
Systemic lupus erythematosus susceptibility loci defined by genome scan meta-analysis. 62 57
16208513 2005
48
Genetic linkage of systemic lupus erythematosus to 13q32 in African American families with affected male members. 62 57
16189706 2005
49
FcgammaRIIB Ile232Thr transmembrane polymorphism associated with human systemic lupus erythematosus decreases affinity to lipid rafts and attenuates inhibitory effects on B cell receptor signaling. 62 5
16115811 2005
50
PI3Kgamma inhibition blocks glomerulonephritis and extends lifespan in a mouse model of systemic lupus. 62 57
16127435 2005

Variations for Systemic Lupus Erythematosus

ClinVar genetic disease variations for Systemic Lupus Erythematosus:

5 (show all 42)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BLK NM_001715.3(BLK):c.843T>G (p.Phe281Leu) SNV Association
1676725 rs2306234 GRCh37: 8:11414237-11414237
GRCh38: 8:11556728-11556728
2 BLK NM_001715.3(BLK):c.391C>T (p.Arg131Trp) SNV Pathogenic
619201 rs73663163 GRCh37: 8:11407690-11407690
GRCh38: 8:11550181-11550181
3 BLK NM_001715.3(BLK):c.1075C>T (p.Arg359Cys) SNV Pathogenic
619205 rs146505280 GRCh37: 8:11418856-11418856
GRCh38: 8:11561347-11561347
4 ATRIP, ATRIP-TREX1, TREX1 NM_033629.6(TREX1):c.856_865dup (p.Ala289fs) DUP Pathogenic
930977 rs2040385695 GRCh37: 3:48508908-48508909
GRCh38: 3:48467509-48467510
5 BLK NM_001715.3(BLK):c.919C>G (p.Pro307Ala) SNV Pathogenic
619203 rs1307379746 GRCh37: 8:11414313-11414313
GRCh38: 8:11556804-11556804
6 BLK NM_001715.3(BLK):c.1048T>C (p.Tyr350His) SNV Pathogenic
619204 rs758750492 GRCh37: 8:11418829-11418829
GRCh38: 8:11561320-11561320
7 TLR7 NM_016562.4(TLR7):c.1521T>G (p.Phe507Leu) SNV Pathogenic
1330375 GRCh37: X:12905148-12905148
GRCh38: X:12887029-12887029
8 CTLA4 NM_005214.5(CTLA4):c.457G>A (p.Asp153Asn) SNV Pathogenic
636389 rs1581573970 GRCh37: 2:204735656-204735656
GRCh38: 2:203870933-203870933
9 BLK NM_001715.3(BLK):c.713G>A (p.Arg238Gln) SNV Pathogenic
210528 rs141865425 GRCh37: 8:11412934-11412934
GRCh38: 8:11555425-11555425
10 ENG NM_001114753.3(ENG):c.816+6T>C SNV Pathogenic
453308 rs759191907 GRCh37: 9:130587504-130587504
GRCh38: 9:127825225-127825225
11 ATRIP, ATRIP-TREX1, TREX1 NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) DEL Pathogenic
126393 rs79318303 GRCh37: 3:48508913-48508930
GRCh38: 3:48467514-48467531
12 ATRIP, ATRIP-TREX1, TREX1 NM_033629.6(TREX1):c.907A>C (p.Thr303Pro) SNV Pathogenic
126394 rs76224909 GRCh37: 3:48508961-48508961
GRCh38: 3:48467562-48467562
13 TNF NM_000594.3(TNF):c.-488G>A SNV Risk Factor
225964 rs1800629 GRCh37: 6:31543031-31543031
GRCh38: 6:31575254-31575254
14 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
15 ATRIP, ATRIP-TREX1, TREX1 NM_033629.6(TREX1):c.1A>G (p.Met1Val) SNV Likely Pathogenic
931952 rs761165865 GRCh37: 3:48508055-48508055
GRCh38: 3:48466656-48466656
16 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
17 FCGR2A NM_001136219.3(FCGR2A):c.500A>G (p.His167Arg) SNV Risk Factor
14823 rs1801274 GRCh37: 1:161479745-161479745
GRCh38: 1:161509955-161509955
18 AP4B1-AS1, PTPN22 NM_015967.8(PTPN22):c.1858= (p.Trp620=) SNV Risk Factor
8909 rs2476601 GRCh37: 1:114377568-114377568
GRCh38: 1:113834946-113834946
19 CTLA4 NM_005214.5(CTLA4):c.49A>G (p.Thr17Ala) SNV Risk Factor
16921 rs231775 GRCh37: 2:204732714-204732714
GRCh38: 2:203867991-203867991
20 FCGR2B NM_004001.4(FCGR2B):c.-386G>C SNV Risk Factor
5466 rs3219018 GRCh37: 1:161632646-161632646
GRCh38: 1:161662856-161662856
21 FCGR2B NM_001394477.1(FCGR2B):c.695T>C (p.Ile232Thr) SNV Risk Factor
5467 rs1050501 GRCh37: 1:161643798-161643798
GRCh38: 1:161674008-161674008
22 DNASE1 NM_005223.4(DNASE1):c.13A>T (p.Lys5Ter) SNV Risk Factor
16851 rs121912990 GRCh37: 16:3705387-3705387
GRCh38: 16:3655386-3655386
23 DNASE1 NM_005223.4(DNASE1):c.731G>A (p.Arg244Gln) SNV Risk Factor
16852 rs1053874 GRCh37: 16:3707747-3707747
GRCh38: 16:3657746-3657746
24 SOCS1 NM_003745.2(SOCS1):c.64C>T (p.Arg22Trp) SNV Likely Pathogenic
977215 rs2069586831 GRCh37: 16:11349272-11349272
GRCh38: 16:11255415-11255415
25 SOCS1 NM_003745.2(SOCS1):c.460T>C (p.Tyr154His) SNV Likely Pathogenic
977216 rs2069578995 GRCh37: 16:11348876-11348876
GRCh38: 16:11255019-11255019
26 DNASE2 NM_001375.3(DNASE2):c.965G>A (p.Gly322Asp) SNV Uncertain Significance
810670 rs1970317070 GRCh37: 19:12986922-12986922
GRCh38: 19:12876108-12876108
27 FCGR2A NM_001136219.3(FCGR2A):c.780+1G>A SNV Uncertain Significance
1675086 GRCh37: 1:161483723-161483723
GRCh38: 1:161513933-161513933
28 FCGR2A NM_001136219.3(FCGR2A):c.497C>T (p.Ser166Phe) SNV Uncertain Significance
1675085 GRCh37: 1:161479742-161479742
GRCh38: 1:161509952-161509952
29 CTLA4 NM_005214.5(CTLA4):c.410C>T (p.Pro137Leu) SNV Uncertain Significance
432079 rs1553657429 GRCh37: 2:204735609-204735609
GRCh38: 2:203870886-203870886
30 TLR7 NM_016562.4(TLR7):c.2716G>A (p.Glu906Lys) SNV Uncertain Significance
1341705 GRCh37: X:12906343-12906343
GRCh38: X:12888224-12888224
31 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
32 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
33 DNASE1 NM_005223.4(DNASE1):c.385G>A (p.Asp129Asn) SNV Uncertain Significance
1704361 GRCh37: 16:3706703-3706703
GRCh38: 16:3656702-3656702
34 BLK NM_001715.3(BLK):c.330T>C (p.Ser110=) SNV Benign
128527 rs3816668 GRCh37: 8:11406593-11406593
GRCh38: 8:11549084-11549084
35 BLK NM_001715.3(BLK):c.116C>T (p.Pro39Leu) SNV Benign
258175 rs142352008 GRCh37: 8:11400849-11400849
GRCh38: 8:11543340-11543340
36 DNASE1 NM_005223.4(DNASE1):c.379G>A (p.Gly127Arg) SNV Benign
973637 rs8176919 GRCh37: 16:3706697-3706697
GRCh38: 16:3656696-3656696
37 BLK NM_001715.3(BLK):c.392G>A (p.Arg131Gln) SNV Benign
619202 rs144615291 GRCh37: 8:11407691-11407691
GRCh38: 8:11550182-11550182
38 BLK NM_001715.3(BLK):c.164A>G (p.His55Arg) SNV Benign
619206 rs202053568 GRCh37: 8:11403601-11403601
GRCh38: 8:11546092-11546092
39 BLK NM_001715.3(BLK):c.252G>C (p.Lys84Asn) SNV Benign
619207 rs778435147 GRCh37: 8:11405617-11405617
GRCh38: 8:11548108-11548108
40 BLK NM_001715.3(BLK):c.301G>A (p.Val101Ile) SNV Benign
619208 rs371256341 GRCh37: 8:11406564-11406564
GRCh38: 8:11549055-11549055
41 BLK NM_001715.3(BLK):c.344G>A (p.Arg115Gln) SNV Benign
619209 rs367628135 GRCh37: 8:11406607-11406607
GRCh38: 8:11549098-11549098
42 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:

73
# 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:

6 (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

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 innate immune response GO:0045087 10.22 TREX1 TLR7 CR2 C4B C4A BLK
2 immune response GO:0006955 10.07 CR2 CTLA4 FCGR2B TLR7 TNFSF4 TREX1
3 inflammatory response GO:0006954 10.06 TREX1 TNFSF4 TLR7 FCGR2B C4B C4A
4 regulation of immune response GO:0050776 9.88 PDCD1 FCGR2B FCGR2A
5 regulation of adaptive immune response GO:0002819 9.81 TNFSF4 FCGR2B
6 positive regulation of apoptotic cell clearance GO:2000427 9.8 C4B C4A
7 regulation of B cell receptor signaling pathway GO:0050855 9.78 PTPN22 BLK
8 negative regulation of regulatory T cell differentiation GO:0045590 9.76 TNFSF4 CTLA4
9 regulation of innate immune response GO:0045088 9.65 TREX1 PTPN22 FCGR2B
10 negative regulation of B cell proliferation GO:0030889 9.63 BLK CTLA4 FCGR2B
11 DNA catabolic process GO:0006308 9.61 TREX1 DNASE1
12 negative regulation of immune response GO:0050777 9.43 PDCD1 FCGR2B CTLA4
13 immune system process GO:0002376 9.28 TLR7 PTPN22 PDCD1 FCGR2A CTLA4 CR2

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 9.46 FCGR2B FCGR2A
2 transmembrane signaling receptor activity GO:0004888 9.32 TLR7 FCGR2B FCGR2A ENG CR2
3 complement binding GO:0001848 9.26 CR2 C4B

Sources for Systemic Lupus Erythematosus

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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