SPDA1
MCID: SPN225
MIFTS: 70

Spondyloarthropathy 1 (SPDA1)

Categories: Bone diseases, Eye diseases, Genetic diseases, Immune diseases, Muscle diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Spondyloarthropathy 1

MalaCards integrated aliases for Spondyloarthropathy 1:

Name: Spondyloarthropathy 1 57 72 37
Ankylosing Spondylitis 57 12 73 20 43 72 36 29 6 42 15 17 70 32
Spondyloarthropathy, Susceptibility to, 1 57 13 39
Marie-Strumpell Spondylitis 57 20 72
Bechterew Syndrome 57 20 72
Spondylarthritis Ankylopoietica 43 72
Spondylitis, Ankylosing 43 44
Reiter Syndrome 72 70
Spda1 57 72
Ankylosing Spondylitis, Susceptibility to 57
Spondyloarthritis Ankylopoietica 43
Ankylosing Spondyloarthritis 20
Ankylosing Spondylarthritis 72
Spondylitis Ankylopoietica 43
Marie-Struempell Disease 43
Marie-Strumpell Disease 12
Rheumatoid Spondylitis 72
Spondylitis Ankylosans 72
Spondylitis Ankylosing 54
Spondylarthropathies 70
Arthritis, Psoriatic 70
Psoriatic Arthritis 72
Bekhterev's Disease 12
Arthritis, Reactive 70
Reactive Arthritis 72
Bekhterev Syndrome 12
Bechterew Disease 43
As 43

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
multifactorial

Miscellaneous:
overall prevalence is between 0.5 and 14 per 100,000 people per year
genetic heterogeneity (see spondyloarthropathy, susceptibility to, 2 )
spondyloarthropathy includes a spectrum of related disorders, including, 1 - ankylosing spondylitis (as), 2 - a subset of psoriatic arthritis (psa), 3 - reactive arthritis (rea), 4 - arthritis associated with inflammatory bowel disease (aibd), 5 - undifferentiated spondyloarthropathy (uspa)


HPO:

31
spondyloarthropathy 1:
Inheritance multifactorial inheritance heterogeneous


Classifications:



External Ids:

Disease Ontology 12 DOID:7147
OMIM® 57 106300
OMIM Phenotypic Series 57 PS106300
KEGG 36 H01674
ICD9CM 34 720.0
NCIt 50 C84564
SNOMED-CT 67 156619005
ICD10 32 M45
UMLS 70 C0003872 C0035012 C0038013 more

Summaries for Spondyloarthropathy 1

MedlinePlus Genetics : 43 Ankylosing spondylitis is a form of ongoing joint inflammation (chronic inflammatory arthritis) that primarily affects the spine. This condition is characterized by back pain and stiffness that typically appear in adolescence or early adulthood. Over time, back movement gradually becomes limited as the bones of the spine (vertebrae) fuse together. This progressive bony fusion is called ankylosis.The earliest symptoms of ankylosing spondylitis result from inflammation of the joints between the pelvic bones (the ilia) and the base of the spine (the sacrum). These joints are called sacroiliac joints, and inflammation of these joints is known as sacroiliitis. The inflammation gradually spreads to the joints between the vertebrae, causing a condition called spondylitis. Ankylosing spondylitis can involve other joints as well, including the shoulders, hips, and, less often, the knees. As the disease progresses, it can affect the joints between the spine and ribs, restricting movement of the chest and making it difficult to breathe deeply. People with advanced disease are also more prone to fractures of the vertebrae.Ankylosing spondylitis affects the eyes in up to 40 percent of cases, leading to episodes of eye inflammation called acute iritis. Acute iritis causes eye pain and increased sensitivity to light (photophobia). Rarely, ankylosing spondylitis can also cause serious complications involving the heart, lungs, and nervous system.

MalaCards based summary : Spondyloarthropathy 1, also known as ankylosing spondylitis, is related to juvenile ankylosing spondylitis and ankylosing spondylitis 1, and has symptoms including pain, stiffness in the spine and stiffness in the neck. An important gene associated with Spondyloarthropathy 1 is HLA-B (Major Histocompatibility Complex, Class I, B), and among its related pathways/superpathways are Antigen processing and presentation and Innate Immune System. The drugs Loxoprofen and Pamidronate have been mentioned in the context of this disorder. Affiliated tissues include Placenta and Umbilical Cord, and related phenotypes are kyphosis and inflammation of the large intestine

Disease Ontology : 12 A bone inflammation disease that results in inflammation in the joints of the spine and pelvis. The disease has symptom pain, has symptom stiffness in the spine, has symptom stiffness in the neck, has symptom stiffness in the hips, has symptom stiffness in the jaw and has symptom stiffness in the rib cage.

GARD : 20 Ankylosing spondylitis (AS) is a type of chronic, inflammatory arthritis that mainly affects the spine. It usually begins with inflammation of the joints between the pelvic bones and spine, gradually spreading to the joints between the vertebrae. Signs and symptoms usually begin in adolescence or early adulthood and may include back pain and stiffness. Back movement gradually becomes more limited as the vertebrae fuse together. The condition may also affect the shoulders; ribs; hips; knees; and feet; as well as the eyes; bowel; and very rarely, the heart and lungs. AS is likely caused by a combination of genetic and environmental factors ; variations in several genes are thought to affect the risk to develop AS. In most cases, treatment involves exercise and medications to relieve pain and inflammation.

OMIM® : 57 Spondyloarthropathy (SpA), one of the commonest chronic rheumatic diseases, includes a spectrum of related disorders comprising the prototype ankylosing spondylitis (AS), a subset of psoriatic arthritis (PsA), reactive arthritis (ReA), arthritis associated with inflammatory bowel disease, and undifferentiated spondyloarthropathy (Miceli-Richard et al., 2004). These phenotypes are difficult to differentiate because they may occur simultaneously or sequentially in the same patient. Studies have suggested that a predominant shared component, including HLA-B27, predisposes to all phenotypic subsets, and that these subsets should be considered as various phenotypic expressions of the same disease (Said-Nahal et al., 2000, Said-Nahal et al., 2001). Braun and Sieper (2007) provided a detailed review of ankylosing spondylitis, including clinical features, pathogenesis, and management. (106300) (Updated 05-Apr-2021)

MedlinePlus : 42 Ankylosing spondylitis is a type of arthritis of the spine. It causes inflammation between your vertebrae, which are the bones that make up your spine, and in the joints between your spine and pelvis. In some people, it can affect other joints. AS is more common and more severe in men. It often runs in families. The cause is unknown, but it is likely that both genes and factors in the environment play a role. Early symptoms of AS include back pain and stiffness. These problems often start in late adolescence or early adulthood. Over time, AS can fuse your vertebrae together, limiting movement. Some people have symptoms that come and go. Others have severe, ongoing pain. A diagnosis of AS is based on your medical history and a physical examination. You may also have imaging or blood tests. AS has no cure, but medicines can relieve symptoms and may keep the disease from getting worse. Eating a healthy diet, not smoking, and exercising can also help. In rare cases, you may need surgery to straighten the spine. NIH: National Institute of Arthritis and Musculoskeletal and Skin Disease

KEGG : 36 Ankylosing spondylitis (AS), formerly also known as Bechterew's disease, is a rheumatic disease of the axial skeleton that mainly affects the spine and the sacroiliac joint in the pelvis. AS is one of a group of inflammatory diseases, called spondyloarthritides, which share features. This disease is characterized by erosion, sclerosis, and ossification, which may result in complete fusion and rigidity of the spine. Regarding extra-articular manifestations, the most frequent is anterior uveitis. The major functional losses occur during the first 10 years of disease. It usually begins in the second or third decade of life, preferentially in HLA-B27-positive Caucasian males. Its etiology and pathogenesis are not completely understood, but the most prevalent hypothesis involves immune mediation as its major mechanism, including several cytokines. To date, more than 40 genetic variants have been identified that influence the risk of developing AS, including HLA alleles such as HLA-B27. Non-steroid anti-inflammatory drugs (NSAIDs) are used to reduce pain and inflammation. Additional disease-modifying anti-rheumatic drugs (DMARDs) are prescribed to slowdown disease progression. The most frequently applied biological agents approved for AS are TNF alpha inhibitors. The IL-17 inhibitor secukinumab has been recently approved for moderate-to-severe plaque psoriasis, psoriatic arthritis, and AS.

UniProtKB/Swiss-Prot : 72 Spondyloarthropathy 1: A chronic rheumatic disease with multifactorial inheritance. It includes a spectrum of related disorders comprising ankylosing spondylitis, a subset of psoriatic arthritis, reactive arthritis (e.g. Reiter syndrome), arthritis associated with inflammatory bowel disease and undifferentiated spondyloarthropathy. These disorders may occur simultaneously or sequentially in the same patient, probably representing various phenotypic expressions of the same disease. Ankylosing spondylitis is the form of rheumatoid arthritis affecting the spine and is considered the prototype of seronegative spondyloarthropathies. It produces pain and stiffness as a result of inflammation of the sacroiliac, intervertebral, and costovertebral joints.

Wikipedia : 73 Ankylosing spondylitis (AS) is a type of arthritis in which there is a long-term inflammation of the... more...

Related Diseases for Spondyloarthropathy 1

Diseases in the Spondyloarthropathy family:

Spondyloarthropathy 1 Spondyloarthropathy 2
Spondyloarthropathy 3 Juvenile Spondyloarthropathy

Diseases related to Spondyloarthropathy 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1220)
# Related Disease Score Top Affiliating Genes
1 juvenile ankylosing spondylitis 33.2 TNF IL1RN
2 ankylosing spondylitis 1 33.2 HLA-B CRP
3 spondylitis 32.9 TNFSF11 TNF TAP2 NOD2 IL17A HLA-B
4 spinal disease 32.5 TNF IL17A CRP CCR6
5 uveitis 32.2 TNFRSF1A TNF NOD2 IL17A HLA-B
6 iridocyclitis 32.1 TNF IL17A HLA-B CRP
7 spondyloarthropathy 32.0 TNFSF11 TNF MMP3 IL17A HLA-B
8 enthesopathy 32.0 TNF CRP CCR6 ANKH
9 ankylosis 31.9 TNFSF11 TNF IL17A CCR6 BGLAP ANKH
10 spondylarthropathy 31.9 TNF HLA-B
11 nail disease 31.8 TNF IL17A CCR6
12 reactive arthritis 31.8 TNF IL17A HLA-B CRP CCR6
13 pustulosis of palm and sole 31.7 TNF IL1RN IL17A CRP CCR6
14 arthropathy 31.6 TNFSF11 TNF MMP3 HLA-B CRP ANKH
15 brucellosis 31.5 TNF IL1RN IL17A CRP
16 psoriatic arthritis 31.5 TNFSF11 TNFRSF1B TNFRSF1A TNF NOD2 MMP3
17 psoriasis 31.5 TNFRSF1B TNFRSF1A TNF NOD2 IL17A HLA-B
18 crohn's disease 31.4 TNFRSF1B TNFRSF1A TNF NOD2 IL17A CRP
19 iritis 31.4 TNF NOD2 IL17A HLA-B CRP CCR6
20 bursitis 31.4 TNF MMP3 CRP
21 bone resorption disease 31.4 TNFSF11 TNF CRP CCR6 BGLAP
22 aortitis 31.4 TNF IL1RN IL17A CRP
23 vasculitis 31.4 TNF IL17A HLA-B CRP CD40LG
24 synovitis 31.4 TNFSF11 TNFRSF1A TNF MMP3 IL1RN CRP
25 autoimmune disease 31.4 TNFRSF1B TNFRSF1A TNF IL1RN IL17A HLA-B
26 ulcerative colitis 31.3 TNF NOD2 IL1RN IL17A CRP CCR6
27 juvenile rheumatoid arthritis 31.3 TNFRSF1B TNFRSF1A TNF MMP3 IL1RN CRP
28 exanthem 31.3 TNF CRP CCR6
29 arthritis 31.3 TNFSF11 TNFRSF1B TNFRSF1A TNF NOD2 MMP3
30 chlamydia 31.2 TNF IL17A CRP
31 arachnoiditis 31.2 TNF CRP
32 tendinitis 31.2 TNF MMP3 CRP
33 rheumatoid arthritis 31.2 TNFSF11 TNFRSF1B TNFRSF1A TNF MMP3 IL1RN
34 sarcoidosis 1 31.2 TNFRSF1B TNF NOD2 IL1RN CRP CCR6
35 familial mediterranean fever 31.2 TNFRSF1A TNF NOD2 IL1RN IL17A CRP
36 ileitis 31.1 TNF NOD2 IL17A CCR6
37 osteoarthritis 31.1 TNFSF11 TNF MMP3 IL1RN IL17A CRP
38 colitis 31.1 TNFRSF1B TNF NOD2 IL1RN IL17A CCR6
39 proteasome-associated autoinflammatory syndrome 1 31.1 TNF IL1RN IL17A CRP
40 osteoporosis 31.1 TNFSF11 TNFRSF1B TNF MMP3 IL1RN IL17A
41 neutropenia 31.1 TNFRSF1A TNF IL1RN CRP
42 mycobacterium tuberculosis 1 31.1 TNF NOD2 IL17A CCR6
43 crohn's colitis 31.0 TNF NOD2 CCR6
44 bone inflammation disease 31.0 TNFSF11 TNFRSF1A TNF MMP3 IL1RN IL17A
45 nasopharyngitis 31.0 TNF IL17A CRP CCR6
46 thyroiditis 31.0 TNF IL17A CRP
47 erythema nodosum 31.0 TNF NOD2 CRP
48 scleritis 31.0 TNF CRP CCR6
49 mental depression 31.0 TNF CRP CCR6
50 pericarditis 31.0 TNFRSF1A TNF CRP

Comorbidity relations with Spondyloarthropathy 1 via Phenotypic Disease Network (PDN):


Acute Cystitis Deficiency Anemia
Hypertension, Essential Osteoporosis
Rheumatoid Arthritis

Graphical network of the top 20 diseases related to Spondyloarthropathy 1:



Diseases related to Spondyloarthropathy 1

Symptoms & Phenotypes for Spondyloarthropathy 1

Human phenotypes related to Spondyloarthropathy 1:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 kyphosis 31 HP:0002808
2 inflammation of the large intestine 31 HP:0002037
3 back pain 31 HP:0003418
4 arrhythmia 31 HP:0011675
5 aortic regurgitation 31 HP:0001659
6 psoriasiform dermatitis 31 HP:0003765
7 enthesitis 31 HP:0100686
8 hip osteoarthritis 31 HP:0008843
9 anterior uveitis 31 HP:0012122
10 sacroiliac arthritis 31 HP:0012317
11 oligoarthritis 31 HP:0040313

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
anterior uveitis

Abdomen Gastrointestinal:
inflammatory bowel disease (crohn disease and ulcerative colitis)

Skeletal Pelvis:
arthritis (hip)

Skin Nails Hair Skin:
psoriasis

Cardiovascular Heart:
aortic insufficiency
aortitis
cardiac conduction abnormalities

Skeletal Spine:
accentuated kyphosis
back stiffness
nocturnal back pain
ankylosing spondylitis
sacroiliitis
more
Skeletal Limbs:
peripheral arthritis (oligoarticular or polyarticular)
peripheral enthesitis

Laboratory Abnormalities:
hla-b27 haplotype association (95% patients)
rheumatoid factor negative

Clinical features from OMIM®:

106300 (Updated 05-Apr-2021)

Symptoms:

12
  • pain
  • stiffness in the spine
  • stiffness in the neck
  • stiffness in the hips
  • stiffness in the jaw
  • stiffness in the rib cage

UMLS symptoms related to Spondyloarthropathy 1:


back pain; sciatica; muscle cramp

MGI Mouse Phenotypes related to Spondyloarthropathy 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10 ANKH BGLAP CCR6 CD40LG IL17A IL1RN
2 immune system MP:0005387 9.83 ANKH BGLAP CCR6 CD40LG CRP IL17A
3 skeleton MP:0005390 9.36 ANKH BGLAP CD40LG IL17A IL1RN MMP3

Drugs & Therapeutics for Spondyloarthropathy 1

Drugs for Spondyloarthropathy 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 209)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Loxoprofen Approved Phase 4 68767-14-6, 80382-23-6 3965
2
Pamidronate Approved Phase 4 40391-99-9 4674
3
Brodalumab Approved, Investigational Phase 4 1174395-19-7
4
Aceclofenac Approved, Investigational Phase 4 89796-99-6 71771
5
Thalidomide Approved, Investigational, Withdrawn Phase 4 50-35-1 5426
6
Abatacept Approved Phase 4 332348-12-6 10237
7
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
8
Hydroxychloroquine Approved Phase 4 118-42-3 3652
9
Etanercept Approved, Investigational Phase 4 185243-69-0
10
Meloxicam Approved, Vet_approved Phase 4 71125-38-7 5281106 54677470
11
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
12
Celecoxib Approved, Investigational Phase 4 169590-42-5 2662
13
Omeprazole Approved, Investigational, Vet_approved Phase 4 73590-58-6 4594
14
Indomethacin Approved, Investigational Phase 4 53-86-1 3715
15
Acetaminophen Approved Phase 4 103-90-2 1983
16
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
17 Natriuretic Peptide, Brain Phase 4
18 Antibodies Phase 4
19 Immunoglobulins Phase 4
20 Vaccines Phase 4
21 Cholestyramine Resin Phase 4
22 Tripterygium Phase 4
23 Mitogens Phase 4
24 Endothelial Growth Factors Phase 4
25 Heptavalent Pneumococcal Conjugate Vaccine Phase 4
26 Angiogenesis Inhibitors Phase 4
27 Triamcinolone diacetate Phase 4
28 Triamcinolone hexacetonide Phase 4
29 triamcinolone acetonide Phase 4
30 Adrenocorticotropic Hormone Phase 4
31 Melanocyte-Stimulating Hormones Phase 4
32 beta-Endorphin Phase 4
33 Antimalarials Phase 4
34 Antiparasitic Agents Phase 4
35 Antiprotozoal Agents Phase 4
36 Rosuvastatin Calcium Phase 4 147098-20-2
37 Calcium, Dietary Phase 4
38 Cyclooxygenase 2 Inhibitors Phase 4
39 Cyclooxygenase Inhibitors Phase 4
40 Tocolytic Agents Phase 4
41 Analgesics, Opioid Phase 4
42 Antipyretics Phase 4
43
Calcium Nutraceutical Phase 4 7440-70-2 271
44
Etoricoxib Approved, Investigational Phase 3 202409-33-4 123619
45
Lactitol Approved, Investigational Phase 3 585-86-4 157355
46
Doxycycline Approved, Investigational, Vet_approved Phase 3 564-25-0 54671203
47
Naproxen Approved, Vet_approved Phase 3 22204-53-1 1302 156391
48
Rebamipide Approved, Investigational Phase 3 90098-04-7
49
Misoprostol Approved Phase 3 59122-46-2 5282381
50
Rifampicin Approved Phase 3 13292-46-1 5381226 5458213

Interventional clinical trials:

(show top 50) (show all 697)
# Name Status NCT ID Phase Drugs
1 A Multicenter,Double-Blind and Randomized Controlled Trial of Fengshigutong Capsule in the Treatment of Ankylosing Spondylitis Unknown status NCT03932006 Phase 4 Fengshigutong Capsule plus Imrecoxib;Fengshigutong Capsule;Imrecoxib
2 Effects of Biological Treatment on Blood Pressure and Endothelial Function in Patients With Rheumatoid Arthritis, Psoriatic Arthritis and Ankylosing Spondylitis Unknown status NCT02132234 Phase 4 Etanercept;Adalimumab;Certolizumab;Infliximab
3 The Efficacy of Adalimumab and Conventional Antirheumatic Drugs in Alleviating Axial and Aortic Inflammation Detected in PET/CT in Patients With Axial Spondyloarthritis Unknown status NCT02634541 Phase 4 Adalimumab
4 Etanercept Versus Adalimumab in the Treatment of Patients With Ankylosing Spondylitis. A Switch Study Unknown status NCT02489760 Phase 4
5 Combined Treatment With TNF (Tumor Necrosis Factor) Inhibitor and Pamidronate in AS Patients: Effect on the Radiographic Progression Unknown status NCT02313727 Phase 4 Pamidronate
6 Efficacy and Safety of Etanercept Dose Reduction in Patients With Ankylosing Spondylitis Unknown status NCT02638896 Phase 4 etanercept (Half-Dose);etanercept (Full-Dose);Sulfasalazine;Celecoxib
7 Prospective Evaluation of Heart Function by Echocardiographic Study, Pro-brain Natriuretic Peptide Type B and Troponin T in Patients With Rheumatoid Arthritis and Ankylosing Spondylitis Pre and Post-TNF Blocker Unknown status NCT01072058 Phase 4 TNF blockers (infliximab, adalimumab, etanercept)
8 TReat-to-tArget (T2T) With seCukinumab in Axial Spondyloarthritis. IdEntification of MRI and Biochemical Biomarkers for Disease Activity, Treatment Response and Structural Damage Progression (the TRACE Study) Unknown status NCT03639740 Phase 4 Secukinumab 150 milligram [Cosentyx]
9 Title of Study: 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 Psoriatic Arthritis (PsA) Unknown status NCT01939132 Phase 4 Open label H.P. Acthar Gel
10 Sensitivity and Specificity of QuantiFeron -TB Gold Test (QFT-G)in Comparison With Tuberculin Skin Test in Patients With Psoriasis and Psoriatic Arthritis Unknown status NCT01223976 Phase 4
11 Efficacy and Safety of Loxoprofen Hydrogel Patch Versus Loxoprofen Tablet in Patients With Ankylosing Spondylitis: a 4-week Randomized, Open-label Study Completed NCT03800797 Phase 4 Loxoprofen sodium hydrogel patch;Loxoprofen sodium tablet
12 Effect of the Combination of Methotrexate and Adalimumab on Reduction of Immunization in Ankylosing Spondylitis (COMARIS) Completed NCT01895764 Phase 4 Adalimumab;Methotrexate
13 Effects of NSAIDs on RAdiographic Damage in Ankylosing Spondylitis (ENRADAS) - a Prospective Randomised Controlled Trial Completed NCT00715091 Phase 4 diclophenac;diclophenac
14 A Clinical Trial About the Efficacy and Safety of Kunxian Capsule in Treatment Patients With Early Ankylosing Spondylitis: a 12-week, Multi-center, Randomized, Double-blind, Active Drug and Placebo Compared Clinical Trial Completed NCT00953979 Phase 4 kunxian capsule
15 Golimumab Versus Pamidronate for the Treatment of Axial Spondyloarthropathy: a 48-week Randomized Controlled Trial Completed NCT01718951 Phase 4 golimumab;Pamidronate
16 Pilot Study of the Safety and Efficacy of Quadrivalent Human Papillomavirus Vaccine (Gardasil®) in Female Subjects With Juvenile Idiopathic Arthritis (JIA)/ Seronegative Arthritis Completed NCT00573651 Phase 4
17 TNFalfa Blocking Treatment of Spondylarthropathies - A Danish Multicenter Study of New Methods for Better Monitoring and Prognostifying Patients With Spondylarthropathies Completed NCT00133315 Phase 4 Infliximab;Etanercept;Adalimumab
18 Evaluation of Clinical Value of Standardized Protocol for Dose-reduction in Patients With Spondylarthropathies and Clinical Remission With Anti-TNF Therapy: Open-label, Controlled, Randomized, Multicenter Trial. Completed NCT01604629 Phase 4 Reduced doses of anti-TNF;Stable doses of anti-TNF
19 Treat-to-Target Strategy With Etanercept for Ankylosing Spondylitis: a Prospective, Randomized Multicentric Study on Disease Activity Guided Etanercept Tapering or Discontinuation Completed NCT03880968 Phase 4 tapering or discontinuation of etanercept
20 Whole Human Genome Oligo Microarray Analysis of the Peripheral Blood Mononuclear Cells of Patients With Ankylosing Spondylitis During Infliximab Treatment Compared to Healthy Controls Completed NCT00778869 Phase 4
21 Baseline Serum Vascular Endothelial Growth Factor (VEGF) Concentration as Predictive Factor of Response to Infliximab (Remicade) Therapy in Patients With Active Ankylosing Spondylitis Despite Conventional Treatment: a Multicenter Pilot Study Completed NCT00779935 Phase 4
22 Post-Registration Open-Label, Non-Comparative, Multicenter Study of Rate of Efficacy and Tolerance of the Use of Anti-TNF Chimeric Monoclonal Antibodies (Remicade) in Treatment of Patients With Active Ankylosing Spondylitis Completed NCT00779012 Phase 4
23 Relapse of Ankylosing Spondylitis Patients Withdrawal Etanercept After Clinical Remission: a Three Years' Following-up Study Completed NCT02915354 Phase 4 Etanercept
24 Multicentre, Open-Labeled Study Of Etanercept In The Treatment Of Patients With Ankylosing Spondylitis Completed NCT00458185 Phase 4 etanercept
25 An Open-Label Multicentre Long-Term Extension Study of Etanercept in Ankylosing Spondylitis Completed NCT00444340 Phase 4 Enbrel (Etanercept)
26 The Efficacy of Combination Methotrexate and Infliximab in Patients With Ankylosing Spondylitis:A Clinical and Magnetic Resonance Imaging Correlation Completed NCT00432432 Phase 4 Infliximab and MTX
27 An Open-label, Multicentre, Supplementary Extension Study of Etanercept in Subjects With Ankylosing Spondylitis Completed NCT00410046 Phase 4 Enbrel (etanercept)
28 A Twelve Week, Randomized, Double Blind Parallel Group Study Of Two Doses Of Celecoxib Compared To Diclofenac In Patients With Ankylosing Spondylitis Completed NCT02528201 Phase 4 Celecoxib 200 milligrams;Celecoxib 400 milligrams;diclofenac 50 milligrams
29 Biomarkers Identification of Anti-TNF α Agent's Efficacy in Ankylosing Spondylitis Patients Using a Transcriptome Analysis and Mass Spectrometry Completed NCT02492217 Phase 4 Adalimumab
30 A Multicentre, Double-Blind, Placebo-Controlled, Randomised Study of Etanercept in the Treatment of Adult Patients With Active, Severe, and Advanced Axial Ankylosing Spondylitis Completed NCT00420238 Phase 4 Etanercept (Enbrel)
31 Effect of Methotrexate on the Relation Dose-effect of Infliximab in Ankylosing Spondylitis Completed NCT00507403 Phase 4 infliximab
32 A Randomized, Double-blind, Placebo-controlled Multicenter Study of Secukinumab (AIN457) to Examine the Clinical Efficacy and the NSAID-sparing Effect of Secukinumab Over 16 Weeks in Patients With Ankylosing Spondylitis (ASTRUM) Completed NCT02763046 Phase 4 Secukinumab (AIN457) 150 mg s.c.;Secukinumab (AIN457) 150 mg s.c.;Placebo - Secukinumab (AIN457) 150 mg s.c.
33 A Randomized, Double-Blind Study Evaluating the Safety and Efficacy of Etanercept and Sulphasalazine in Subjects With Ankylosing Spondylitis Completed NCT00247962 Phase 4 etanercept;sulphasalazine (SSZ)
34 Effect of Anti-TNF(Alpha)Treatment on Circulating Endothelial Progenitor Cells (EPCs) and Vascular Stiffness in AS Completed NCT01212653 Phase 4 Simponi
35 COmparison of the Effect of Treatment With NSAIDs Added to Anti-TNF Therapy Versus Anti-TNF Therapy Alone on Progression of StrUctural Damage in the Spine Over Two Years in Patients With ankyLosing Spondylitis: a Randomized Controlled Multicentre Trial Completed NCT02758782 Phase 4 Celecoxib
36 A Multi-center, Open Label, Random Clinical Trial of Etanercept and Celecoxib Alone/Combined Treatment in Effectiveness and Safety of Active Ankylosing Spondylitis Completed NCT01934933 Phase 4 celebrex;Enbrel;Enbrel plus Celebrex
37 A 12-week Randomized, Double-blind, Multicenter Pilot Study to Evaluate the Effect of Etanercept 100 mg and 50 mg Weekly in Subjects With Ankylosing Spondylitis Completed NCT00873730 Phase 4 etanercept;etanercept/placebo
38 Chung Shan Medical University Hospital, Taiwan Completed NCT00647517 Phase 4 Ultracet
39 Total Glucosides Paeony Capsules in Maintaining Clinical Remission in Patients With Ankylosing Spondylitis Which Achieve Clinical Remission After Anti-TNF Therapy Completed NCT01517620 Phase 4 Total Glucosides Paeony Capsules
40 Open-Label, Phase 4 Study, Investigating the Incidence of Extra-Articular Manifestations in Subjects With Ankylosing Spondylitis Treated With Golimumab; Protocol No. MK-8259-012 Completed NCT01668004 Phase 4
41 Sequential Application of Yisaipu® and Disease Modifying Anti-Rheumatic Drugs (DMARDs) in Treating Mild-to-Moderate Ankylosing Spondylitis: the Mid-term Follow-up Result Completed NCT03411798 Phase 4 Yisaipu®
42 Intestinal Inflammation in Ankylosing Spondylitis Assessed by Fecal Calprotectin, Capsular Endoscopy and Colonoscopy and the Effects of Adalimumab on Mucosal Healing Completed NCT01174186 Phase 4 Adalimumab
43 An Open Trial to Evaluate the Efficacy and Safety of Infliximab(Remicade) in Treating Patients With Early Ankylosing Spondylitis Completed NCT00936143 Phase 4 infliximab
44 A MULTICENTER OPEN-LABEL STUDY OF ETANERCEPT WITHDRAWAL AND RETREATMENT IN SUBJECTS WITH NON-RADIOGRAPHIC AXIAL SPONDYLOARTHRITIS WHO ACHIEVED ADEQUATE 24 WEEK RESPONSE Completed NCT02509026 Phase 4
45 Rating Evaluations in Psoriatic Arthritis (PsA) With Enbrel® Completed NCT00127842 Phase 4 Etanercept
46 A Phase 4 Open-label Randomized Controlled Study COmparing the Effectiveness of Adalimumab iNTROduction and Methotrexate Dose escaLation in Subjects With Psoriatic Arthritis (CONTROL) Completed NCT02814175 Phase 4 methotrexate (MTX)
47 A Randomized, Double-blind, Placebo-controlled, Parallel-group, Multicenter Study to Evaluate the Safety and Efficacy of Secukinumab 300 mg and 150 mg in Adult Patients With Active Psoriatic Arthritis After 16 Weeks of Treatment Compared to Placebo and to Assess the Safety, Tolerability and Efficacy up to 52 Weeks Completed NCT02798211 Phase 4 Secukinumab 300 mg;Secukinumab 150 mg
48 TNF-α Blockade for Psoriatic Arthritis - A Clinical and MRI Study, and the Effects on Cytokine and Cardiovascular Risk Profile Completed NCT00432406 Phase 4 Infliximab;Etanercept
49 A Randomized, Double-Blind, Two-Period Study to Evaluate the Safety and Efficacy of Etanercept on Skin and Joint Disease in Psoriasis Subjects With Psoriatic Arthritis. Completed NCT00245960 Phase 4 etanercept
50 Can New Imaging- and Biomarkers Improve the Assessment of Disease Activity and Progression and Predict Therapeutic Outcome in Psoriatic Arthritis Patients Receiving Adalimumab? Completed NCT01465438 Phase 4 Adalimumab

Search NIH Clinical Center for Spondyloarthropathy 1

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


Auranofin
Aurothioglucose
Diclofenac
Diclofenac Potassium
Diclofenac Sodium
Etanercept
Ibuprofen
Naproxen
Naproxen sodium
Piroxicam
solufenum

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Spondyloarthropathy 1 cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Spondyloarthropathy 1:
Umbilical cord-derived mesenchymal stem cells to treat ankylosing spondylitis
Embryonic/Adult Cultured Cells Related to Spondyloarthropathy 1:
Umbilical cord-derived mesenchymal stem cells (family)
Placenta-derived mesenchymal stem cells (family)

Cochrane evidence based reviews: spondylitis, ankylosing

Genetic Tests for Spondyloarthropathy 1

Genetic tests related to Spondyloarthropathy 1:

# Genetic test Affiliating Genes
1 Ankylosing Spondylitis 29

Anatomical Context for Spondyloarthropathy 1

MalaCards organs/tissues related to Spondyloarthropathy 1:

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

Cells/anatomical compartments in embryo or adult related to Spondyloarthropathy 1:
# Tissue Anatomical CompartmentCell Relevance
1 Placenta Chorionic Villus Chorionic Mesenchymal Stromal Cells Potential therapeutic candidate
2 Umbilical Cord Wharton's Jelly Mesenchymal Stem Cells Potential therapeutic candidate
3 Blood Cord Blood Mesenchymal Stem Cells Potential therapeutic candidate

Publications for Spondyloarthropathy 1

Articles related to Spondyloarthropathy 1:

(show top 50) (show all 14320)
# Title Authors PMID Year
1
Investigating the genetic basis for ankylosing spondylitis. Linkage studies with the major histocompatibility complex region. 57 6 61
8053961 1994
2
Polymorphisms of the CYP2D6 gene increase susceptibility to ankylosing spondylitis. 61 54 57
10861282 2000
3
Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility. 57 61
21743469 2011
4
Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci. 61 57
20062062 2010
5
Association of chromosome 2q36.1-36.3 and autosomal dominant transmission in ankylosing spondylitis: results of genetic studies across generations of Han Chinese families. 57 61
19416804 2009
6
Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. 57 61
17952073 2007
7
Ankylosing spondylitis. 57 61
17448825 2007
8
Ophthalmic findings and frequency of extraocular manifestations in patients with HLA-B27 uveitis: a study of 175 cases. 61 57
15051216 2004
9
Identification of major loci controlling clinical manifestations of ankylosing spondylitis. 61 57
12905477 2003
10
Chronic synovitis and HLA B27 in patients with severe haemophilia. 61 6
12648975 2003
11
Ankylosing spondylitis, HLA B27, and beyond. 61 57
9519942 1998
12
Susceptibility to ankylosing spondylitis in twins: the role of genes, HLA, and the environment. 61 57
9336417 1997
13
The sex ratios of probands and of secondary cases in conditions of multifactorial inheritance where liability varies with sex. 57 61
1999831 1991
14
Relative role of genetic and environmental factors in disease expression: sib pair analysis in ankylosing spondylitis. 57 61
2912465 1989
15
Complete sequence of HLA-B27 cDNA identified through the characterization of structural markers unique to the HLA-A, -B, and -C allelic series. 57 61
3485286 1986
16
Ankylosing spondylitis is part of a multifactorial syndrome: hereditary multifocal relapsing inflammation (HEMRI). 57 61
6332689 1984
17
Genetic differences between B27 positive patients with ankylosing spondylitis and B27 positive healthy controls. 57 61
6606431 1983
18
Family studies in Bechterew's syndrome (ankylosing spondylitis) III. Genetics. 57 61
6604602 1983
19
HLA B27 and the genetics of ankylosing spondylitis. 57 61
107868 1978
20
Histocompatibility typing and the counseling of families with ankylosing spondylitis. 61 57
657578 1978
21
HLA B27 in ankylosing spondylitis in India. 61 57
68310 1977
22
Striking prevalence of ankylosing spondylitis in "healthy" w27 positive males and females. 57 61
126380 1975
23
HL-A27 and ankylosing spondylitis in B.C. Indians. 57 61
1185744 1975
24
Ankylosing spondylitis and HL-A. A genetic disease plus? 61 57
1130424 1975
25
High association of an HL-A antigen, W27, with ankylosing spondylitis. 57 61
4688372 1973
26
Ankylosing spondylitis and HL-A 27. 61 57
4123836 1973
27
Human lymphocyte antigen association in ankylosing spondylitis. 57 61
4694299 1973
28
Genetics of ankylosing spondylitis. 57 61
6082899 1967
29
A family study of rheumatoid (ankylosing) spondylitis. 61 57
14454080 1962
30
Hereditary factors in rheumatoid arthritis and ankylosing spondylitis. 57 61
13869952 1961
31
Ankylosing spondylitis in two families showing involvement of female members only. With a search for linkage to genes determining blood group antigens. 61 57
14411096 1960
32
Heredity in ankylosing spondylitis. 57 61
13650428 1959
33
The inheritance of spondylitis rhizomelique (ankylosing spondylitis) in the K. family. 61 57
14783304 1950
34
TCM nonpharmacological interventions for ankylosing spondylitis: A protocol for systematic review and network meta-analysis. 61 42
33578524 2021
35
Efficacy and safety of warm acupuncture in the treatment of ankylosing spondylitis: A protocol for systematic review and meta-analysis. 42 61
33429781 2021
36
Effect of Music Therapy Intervention on Physical Functions and Mental Health of Patients with Ankylosing Spondylitis. 42 61
33370739 2020
37
HLA-B27 lacking associated beta2-microglobulin rearranges to auto-display or cross-display residues 169-181: a novel molecular mechanism for spondyloarthropathies. 57
15388324 2004
38
Significant linkage to spondyloarthropathy on 9q31-34. 57
15234954 2004
39
Phenotypic diversity is not determined by independent genetic factors in familial spondylarthropathy. 57
11762681 2001
40
The familial form of spondylarthropathy: a clinical study of 115 multiplex families. Groupe Français d'Etude Génétique des Spondylarthropathies. 57
10857795 2000
41
HLA-B27 and spondyloarthropathy: value for early diagnosis? 57
7562959 1995
42
HLA-B27 binding of peptide from its own sequence and similar peptides from bacteria: implications for spondyloarthropathies. 57
7791441 1995
43
Familial aggregation of undifferentiated spondyloarthropathy associated with HLA-B7. 57
7702399 1995
44
A hypothesis for the HLA-B27 immune dysregulation in spondyloarthropathy: contributions from enteric organisms, B27 structure, peptides bound by B27, and convergent evolution. 57
8415702 1993
45
Autosomal dominant spondyloarthropathy: no linkage to the type II collagen gene. 57
2300126 1990
46
Autosomal dominant spondyloarthropathy. 57
2927470 1989
47
Progressive ankylosis in mice. An animal model of spondylarthropathy. I. Clinical and radiographic findings. 57
3190783 1988
48
Progressive ankylosis, a new skeletal mutation in the mouse. 57
7276519 1981
49
Joseph J. Bunim Memorial Lecture. HLA-B27 and the inheritance of susceptibility to rheumatic disease. 57
782462 1976
50
Endothelial dysfunction in ankylosing spondylitis improves after tumor necrosis factor-alpha blockade. 61 54
20204669 2010

Variations for Spondyloarthropathy 1

ClinVar genetic disease variations for Spondyloarthropathy 1:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HLA-B HLA-B, HLA-B27 Variation risk factor 14908 GRCh37:
GRCh38:

Expression for Spondyloarthropathy 1

Search GEO for disease gene expression data for Spondyloarthropathy 1.

Pathways for Spondyloarthropathy 1

Pathways related to Spondyloarthropathy 1 according to KEGG:

36
# Name Kegg Source Accession
1 Antigen processing and presentation hsa04612

Pathways related to Spondyloarthropathy 1 according to GeneCards Suite gene sharing:

(show all 30)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.81 TNFSF11 TNFRSF1B TNFRSF1A TNF TAPBP TAP2
2
Show member pathways
13.21 ZNF354A TNFSF11 TNFRSF1B TNFRSF1A TNF IL17A
3
Show member pathways
13.07 TNFSF11 TNFRSF1B TNFRSF1A TNF NOD2 MMP3
4
Show member pathways
12.88 TNFRSF1B TNFRSF1A TNF TAPBP TAP2 HLA-B
5
Show member pathways
12.79 TNF TAPBP TAP2 IL17A HLA-B CD40LG
6
Show member pathways
12.75 TNFRSF1A TNF TAPBP TAP2 HLA-B
7 12.72 ZNF354A TNFRSF1A TNF TAPBP TAP2 HLA-B
8
Show member pathways
12.53 TNFSF11 TNFRSF1B TNFRSF1A TNF CD40LG
9
Show member pathways
12.27 TNFRSF1B TNFRSF1A TNF CCR6
10 12.12 TNFSF11 TNFRSF1B TNFRSF1A TNF CD40LG
11 11.92 TNFRSF1B TNF MMP3 IL17A
12 11.84 TNFSF11 TNFRSF1A TNF CD40LG
13 11.77 TNFRSF1B TNFRSF1A TNF NOD2 MMP3
14 11.75 TNFSF11 TNF MMP3 IL17A
15 11.74 TNFSF11 TNFRSF1B TNFRSF1A TNF TAP2 IL1RN
16 11.72 TNF IL17A CCR6
17 11.65 TNFRSF1B TNFRSF1A TNF
18 11.62 TNF CD40LG CCR6
19 11.53 TNFRSF1B TNFRSF1A TNF
20
Show member pathways
11.53 TNFRSF1A TNF MMP3 CD40LG
21
Show member pathways
11.5 TNFRSF1B TNFRSF1A TNF
22
Show member pathways
11.47 TNFSF11 TNFRSF1B TNFRSF1A TNF CD40LG
23 11.44 TNFSF11 TNF BGLAP
24 11.4 TNFRSF1B TNFRSF1A TNF IL1RN
25
Show member pathways
11.32 TNFRSF1B TNFRSF1A TNF
26 11.28 TNFRSF1B TNFRSF1A CD40LG
27 11.26 TNFRSF1B TNFRSF1A TNF
28
Show member pathways
11.22 TNFSF11 TNFRSF1B TNFRSF1A TNF CD40LG
29 11.08 TAPBP TAP2 HLA-B
30 11.03 TNFRSF1A TNF NOD2

GO Terms for Spondyloarthropathy 1

Cellular components related to Spondyloarthropathy 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.81 TNFSF11 TNFRSF1A TNF MMP3 IL1RN IL17A
2 cell surface GO:0009986 9.73 TNFRSF1A TNF NOD2 HLA-B CD40LG CCR6
3 extracellular region GO:0005576 9.65 TNFSF11 TNFRSF1B TNFRSF1A TNF MMP3 IL1RN
4 phagocytic vesicle membrane GO:0030670 9.54 TAPBP TAP2 HLA-B
5 MHC class I peptide loading complex GO:0042824 9.32 TAPBP TAP2
6 tumor necrosis factor receptor superfamily complex GO:0002947 8.62 TNFRSF1B TNFRSF1A

Biological processes related to Spondyloarthropathy 1 according to GeneCards Suite gene sharing:

(show all 35)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.9 TNFSF11 TNFRSF1A TNF NOD2
2 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.87 TNFSF11 TNF NOD2 CD40LG
3 defense response GO:0006952 9.85 TNFRSF1A TNF NOD2 HLA-B
4 positive regulation of interleukin-6 production GO:0032755 9.84 TNF NOD2 IL17A
5 positive regulation of JNK cascade GO:0046330 9.83 TNFSF11 TNF NOD2
6 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent GO:0002479 9.81 TAPBP TAP2 HLA-B
7 response to glucocorticoid GO:0051384 9.79 TNF IL1RN BGLAP
8 positive regulation of MAP kinase activity GO:0043406 9.78 TNFSF11 TNF NOD2
9 defense response to Gram-positive bacterium GO:0050830 9.76 TNF NOD2 IL17A CRP
10 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.73 TNFRSF1B TNFRSF1A TNF
11 inflammatory response GO:0006954 9.7 TNFRSF1B TNFRSF1A TNF IL1RN IL17A CRP
12 positive regulation of interleukin-12 production GO:0032735 9.69 NOD2 IL17A CD40LG
13 positive regulation of ceramide biosynthetic process GO:2000304 9.66 TNFRSF1A TNF
14 detection of bacterium GO:0016045 9.66 NOD2 HLA-B
15 regulation of neuroinflammatory response GO:0150077 9.65 TNFRSF1B MMP3
16 peptide transport GO:0015833 9.65 TAPBP TAP2
17 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.65 TAPBP TAP2 HLA-B
18 tumor necrosis factor-mediated signaling pathway GO:0033209 9.65 TNFSF11 TNFRSF1B TNFRSF1A TNF CD40LG
19 regulation of establishment of endothelial barrier GO:1903140 9.64 TNFRSF1A TNF
20 antigen processing and presentation of endogenous peptide antigen via MHC class I GO:0019885 9.64 TAPBP TAP2
21 negative regulation of lipid storage GO:0010888 9.63 TNF CRP
22 regulation of immunoglobulin production GO:0002637 9.62 TNF CD40LG
23 positive regulation of interleukin-1 beta production GO:0032731 9.62 USP50 TNF NOD2 IL17A
24 death-inducing signaling complex assembly GO:0071550 9.61 TNFRSF1A TNF
25 positive regulation of cytokine production involved in inflammatory response GO:1900017 9.61 TNF NOD2 IL17A
26 vesicle fusion with endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane GO:1990668 9.59 TAPBP TAP2
27 aortic valve development GO:0003176 9.58 TNFRSF1B TNFRSF1A
28 positive regulation of humoral immune response mediated by circulating immunoglobulin GO:0002925 9.58 TNF NOD2
29 positive regulation of osteoclast differentiation GO:0045672 9.58 TNFSF11 TNF IL17A
30 negative regulation of extracellular matrix constituent secretion GO:0003332 9.54 TNFRSF1B TNFRSF1A
31 regulation of osteoclast differentiation GO:0045670 9.54 TNFSF11 TNF BGLAP
32 pulmonary valve development GO:0003177 9.52 TNFRSF1B TNFRSF1A
33 cytokine-mediated signaling pathway GO:0019221 9.5 TNFSF11 TNFRSF1B TNFRSF1A TNF MMP3 IL1RN
34 positive regulation of apoptotic process involved in morphogenesis GO:1902339 9.49 TNFRSF1B TNFRSF1A
35 immune response GO:0006955 9.28 TNFSF11 TNFRSF1B TNF TAPBP IL1RN IL17A

Molecular functions related to Spondyloarthropathy 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 tumor necrosis factor-activated receptor activity GO:0005031 9.4 TNFRSF1B TNFRSF1A
2 TAP1 binding GO:0046978 9.37 TAPBP TAP2
3 peptide antigen binding GO:0042605 9.33 TAPBP TAP2 HLA-B
4 tumor necrosis factor binding GO:0043120 9.32 TNFRSF1B TNFRSF1A
5 peptide antigen-transporting ATPase activity GO:0015433 9.26 TAPBP TAP2
6 tumor necrosis factor receptor binding GO:0005164 9.13 TNFSF11 TNF CD40LG
7 cytokine activity GO:0005125 9.02 TNFSF11 TNF IL1RN IL17A CD40LG

Sources for Spondyloarthropathy 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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