GCA
MCID: TMP003
MIFTS: 68

Temporal Arteritis (GCA)

Categories: Bone diseases, Cardiovascular diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Temporal Arteritis

MalaCards integrated aliases for Temporal Arteritis:

Name: Temporal Arteritis 56 12 52 53 58 15 17 71
Polymyalgia Rheumatica 56 12 74 58 36 54 42 43 15 17 71 32
Giant Cell Arteritis 56 12 74 52 53 58 36 42 43 15 71
Cranial Arteritis 56 52 53 71
Rhizomelic Pseudopolyarthritis 58 71
Horton's Disease 12 52
Horton Disease 74 58
Gca 56 52
Horton's Giant Cell Arteritis 52
Horton's Temporal Arteritis 52
Giant Cell Arteritis; Gca 56
Arteritis Temporalis 52
Arteritis Cranialis 52
Horton's Arteritis 52
Horton's Syndrome 52

Characteristics:

Orphanet epidemiological data:

58
giant cell arteritis
Inheritance: Multigenic/multifactorial; Prevalence: 1-9/100000 (Germany),1-5/10000 (United Kingdom),1-5/10000 (Europe); Age of onset: Adult; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
temporal arteritis:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare circulatory system diseases
Rare renal diseases
Rare systemic and rhumatological diseases


Summaries for Temporal Arteritis

KEGG : 36 Giant cell arteritis (GCA), also known as temporal arteritis, is a chronic and polygenic immune-mediated disease of unknown etiology. It is the most common form of vasculitis in individuals over the age of 50 in Western countries. It is characterized by inflammatory damage of the aorta and/or aortic branches, particularly the temporal artery, which can lead to severe complications such as blindness or cerebrovascular disorders. GCA is twice as common in women. It is frequently associated with polymyalgia rheumatica. Laboratory tests usually reveal high erythrocyte sedimentation rate (ESR), elevated levels of C-reactive protein (CRP) and other acute phase proteins, anemia of chronic disease, and thrombocytosis. Genetic association studies have described several genes that are associated with predisposition to GCA, including genes of immune-inflammatory pathways and genes of the HLA class I and II regions. The HLA-DRB1*04 alleles seem to be the most consistently associated genetic risk factors for GCA. Outside the HLA region, the most significant loci included PTPN22. Glucocorticoids are currently the mainstay of treatment for GCA but are associated with frequent adverse events. Tocilizumab, a humanised antihuman IL-6 receptor antibody, has been used successfully in several reports as a treatment of GCA.

MalaCards based summary : Temporal Arteritis, also known as polymyalgia rheumatica, is related to myocarditis and retinal vasculitis, and has symptoms including muscle weakness, edema and pruritus. An important gene associated with Temporal Arteritis is PTPN22 (Protein Tyrosine Phosphatase Non-Receptor Type 22), and among its related pathways/superpathways are ERK Signaling and Innate Immune System. The drugs Ibandronic Acid and Omega 3 Fatty Acid have been mentioned in the context of this disorder. Affiliated tissues include testes, tongue and skin, and related phenotypes are joint stiffness and fatigue

NIH Rare Diseases : 52 Giant cell arteritis (GCA) is a form of vasculitis , a group of disorders that cause inflammation of blood vessels. GCA most commonly affects the arteries of the head (especially the temporal arteries, located on each side of the head), but arteries in other areas of the body can also become inflamed. The inflammation causes the arteries to narrow, resulting in poor blood flow. Signs and symptoms when arteries in the head are involved may include a throbbing headache on one side or the back of the head, tenderness of the scalp, flu-like symptoms, and/or problems with eyesight. Symptoms when other arteries are involved depend on the location of those arteries. The cause of GCA is still being studied, but it is thought to involve the immune system mistakenly attacking the artery walls. Several genetic and environmental factors may increase a person's risk to develop GCA. Complications of GCA may include permanent vision loss or a stroke, so treating the condition is important. Treatment may include corticosteroids and/or other medications that suppress the immune system. GCA may develop with or after another inflammatory disorder known as polymyalgia rheumatica , which occurs in about 40% to 50% of people with GCA.

MedlinePlus : 42 Giant cell arteritis is a disorder that causes inflammation of your arteries, usually in the scalp, neck, and arms. It narrows the arteries, which keeps blood from flowing well. Giant cell arteritis often occurs with another disorder called polymyalgia rheumatica. Both are more common in women than in men. They almost always affect people over the age of 50. Early symptoms of giant cell arteritis resemble the flu: fatigue, loss of appetite, and fever. Other symptoms include Headaches Pain and tenderness over the temples Double vision or visual loss, dizziness Problems with coordination and balance Pain in your jaw and tongue Your doctor will make the diagnosis based on your medical history, symptoms, and a physical exam. There is no specific test for giant cell arteritis, but you may have tests that measure inflammation. Treatment is usually with corticosteroids. Early treatment is important; otherwise there is a risk of permanent vision loss or stroke. However, when properly treated, giant cell arteritis rarely comes back. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases

NINDS : 53 Vasculitis is inflammation of blood vessels, which includes the veins, arteries, and capillaries. It occurs when the immune system mistakenly attacks a blood vessel. Vasculitis can also be caused by other immune system disease, an allergic reaction to medicines or toxins, and by certain blood cancers that trigger an immune system reaction. The resulting reduced blood flow can permanently damage the brain, spinal cord, peripheral nervous system, and other organs and tissue. Some forms of vasculitis affect a particular organ, whie others may affect many organs at the same time. Symptoms include headaches (especially a headache that doesn’t go away), fever, weight loss, confusion or forgetfulness leading to dementia, swelling of the brain, pain, vision problems, trouble speaking or understanding, muscle weakness and paralysis, and seizures. Some of the better understood vasculitis syndromes are temporal arteritis (also called giant cell arteritis or cranial arteritis--a chronic inflammatory disorder of large blood vessels) and Takayasu’s disease, which affects larger aortas and may cause stoke.

Wikipedia : 74 Giant cell arteritis (GCA), also called temporal arteritis, is an inflammatory disease of large blood... more...

More information from OMIM: 187360

Related Diseases for Temporal Arteritis

Diseases in the Temporal Arteritis family:

Juvenile Temporal Arteritis

Diseases related to Temporal Arteritis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1240)
# Related Disease Score Top Affiliating Genes
1 myocarditis 33.0 TNF IL6 IFNG CD40LG CCL2
2 retinal vasculitis 32.3 TNFRSF1B TNF CD40LG CD4 CCR6 CCL2
3 muscle tissue disease 32.1 TNF SERPINA3 IL6 CRP CCR6
4 cold agglutinin disease 30.9 IL6 CRP
5 intermittent claudication 30.8 IL6 CRP CD40LG APOH
6 pulmonary embolism 30.8 MPO CRP CD40LG APOH
7 central retinal artery occlusion 30.8 PRTN3 CRP CD40LG
8 multiple cranial nerve palsy 30.7 PRTN3 MPO CRP
9 septic arthritis 30.7 TNF IL6 IFNG CRP
10 retinal artery occlusion 30.7 IL6 CRP CCL2 APOH
11 arteriosclerosis 30.7 IL6 IFNG CRP CCL5 CCL2
12 lyme disease 30.7 TNF IL6 HLA-DRB1 CRP CD40LG
13 glomerulonephritis 30.7 PRTN3 MPO CD40LG CCL2
14 carpal tunnel syndrome 30.6 IL6 IL1RN CCL2
15 neuroretinitis 30.6 CRP CD40LG CD4
16 antiphospholipid syndrome 30.6 TNF CRP CD40LG APOH
17 radiculopathy 30.6 IL6 CCL5 CCL2
18 relapsing polychondritis 30.6 IL6 IFNG CRP CCL2
19 parotitis 30.6 CRP CD40LG CD4
20 end stage renal disease 30.6 TNF IL6 IL1RN CRP
21 myasthenia gravis 30.6 TNF PTPN22 IFNG CD40LG
22 infective endocarditis 30.6 TNF IL6 CRP APOH
23 microscopic polyangiitis 30.6 TNF MPO HLA-DRB1
24 polyarteritis nodosa 30.5 PRTN3 MPO IL6 HLA-DRB1 CRP APOH
25 granulomatous myositis 30.5 PRTN3 CD8A
26 optic neuritis 30.5 TNF IL6 HLA-DRB1
27 vascular dementia 30.5 TNF SERPINA3 IL6 CRP
28 posterior scleritis 30.5 TNFRSF10A TNF PRTN3 CRP
29 chlamydia 30.5 TNF IL6 IFNG CRP CD40LG CCL2
30 spotted fever 30.5 TNF IFNG CD40LG CCL5
31 igg4-related disease 30.5 PRTN3 CRP CD4 CCR6
32 retinal detachment 30.5 TNF IL6 IFNG CCL2
33 intestinal perforation 30.5 TNF IL6 CRP CD4
34 cytomegalovirus infection 30.5 TNF IL6 CCL5 CCL2
35 systemic onset juvenile idiopathic arthritis 30.5 TNF IL1RN
36 sleep disorder 30.5 TNF IL6 CRP
37 pleural empyema 30.5 CRP CD40LG CD4
38 castleman disease 30.5 IL6 IFNG CRP
39 severe combined immunodeficiency 30.4 IL6 IL1RN IFNG CD4 CCR6
40 tolosa-hunt syndrome 30.4 PRTN3 CRP
41 aortic aneurysm, familial abdominal, 1 30.4 SERPINA3 IL6 CRP CCL2
42 churg-strauss syndrome 30.4 TNF PRTN3 MPO HLA-DRB1 CD40LG
43 peripheral artery disease 30.4 TNF IL6 CRP CCL2
44 neuritis 30.4 TNF IL6 IFNG CCL5 CCL2
45 lymphopenia 30.4 PTPN22 IL6 IFNG CCR6
46 migraine with or without aura 1 30.4 TNF IL6 CRP CD40LG APOH
47 plasma cell neoplasm 30.4 SERPINA3 IL6 CD40LG
48 polyradiculoneuropathy 30.4 IFNG HLA-DRB1 CCL5
49 systemic autoimmune disease 30.4 IL6 CRP
50 polyneuropathy 30.4 TNF IL6 CRP CD40LG

Comorbidity relations with Temporal Arteritis via Phenotypic Disease Network (PDN): (show all 22)


Active Peptic Ulcer Disease Acute Cystitis
Aortic Valve Disease 1 Bronchitis
Cerebral Arteritis Conn's Syndrome
Deficiency Anemia Esophagitis
Familial Atrial Fibrillation Heart Disease
Hypertension, Essential Hypothyroidism
Intermediate Coronary Syndrome Iron Deficiency Anemia
Mitral Valve Disease Nonarteritic Anterior Ischemic Optic Neuropathy
Optic Neuritis Osteoporosis
Polymyositis Premature Ovarian Failure 7
Rheumatoid Arthritis Transient Cerebral Ischemia

Graphical network of the top 20 diseases related to Temporal Arteritis:



Diseases related to Temporal Arteritis

Symptoms & Phenotypes for Temporal Arteritis

Human phenotypes related to Temporal Arteritis:

58 31 (show top 50) (show all 60)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
2 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
3 fever 58 31 hallmark (90%) Very frequent (99-80%) HP:0001945
4 weight loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0001824
5 anorexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002039
6 cerebral ischemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002637
7 vasculitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002633
8 headache 58 31 hallmark (90%) Very frequent (99-80%) HP:0002315
9 impaired mastication 58 31 hallmark (90%) Very frequent (99-80%) HP:0005216
10 arthritis 58 31 frequent (33%) Frequent (79-30%) HP:0001369
11 depressivity 58 31 frequent (33%) Frequent (79-30%) HP:0000716
12 alopecia 58 31 frequent (33%) Frequent (79-30%) HP:0001596
13 ophthalmoparesis 58 31 frequent (33%) Frequent (79-30%) HP:0000597
14 elevated erythrocyte sedimentation rate 58 31 frequent (33%) Frequent (79-30%) HP:0003565
15 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
16 muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001324
17 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000083
18 hyperhidrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000975
19 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
20 arthralgia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002829
21 skin ulcer 58 31 occasional (7.5%) Occasional (29-5%) HP:0200042
22 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
23 hematuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0000790
24 pericarditis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001701
25 abdominal pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0002027
26 myalgia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003326
27 cough 58 31 occasional (7.5%) Occasional (29-5%) HP:0012735
28 gangrene 58 31 occasional (7.5%) Occasional (29-5%) HP:0100758
29 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
30 aortic dissection 58 31 occasional (7.5%) Occasional (29-5%) HP:0002647
31 sudden cardiac death 58 31 occasional (7.5%) Occasional (29-5%) HP:0001645
32 diabetes insipidus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000873
33 vertigo 58 31 occasional (7.5%) Occasional (29-5%) HP:0002321
34 conductive hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000405
35 paresthesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003401
36 epistaxis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000421
37 recurrent pharyngitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100776
38 meningitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001287
39 hepatic failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001399
40 mediastinal lymphadenopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0100721
41 arterial thrombosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004420
42 gastrointestinal infarctions 58 31 occasional (7.5%) Occasional (29-5%) HP:0005244
43 glossitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000206
44 diplopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000651
45 visual loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0000572
46 visual field defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001123
47 amaurosis fugax 58 31 occasional (7.5%) Occasional (29-5%) HP:0100576
48 double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0011658
49 abdominal aortic aneurysm 31 occasional (7.5%) HP:0005112
50 abnormal thrombocyte morphology 31 occasional (7.5%) HP:0001872

Symptoms via clinical synopsis from OMIM:

56
Eyes:
blindness
retinal arteritis

Lab:
elevated sedimentation rate

Vascular:
temporal arteritis
giant cell arteritis
polymyalgia rheumatica (pmr)

Misc:
response to adrenal glucocorticoids

Clinical features from OMIM:

187360

UMLS symptoms related to Temporal Arteritis:


muscle weakness, edema, pruritus, myalgia, chest pain, back pain, angina pectoris, sciatica, exanthema, muscle cramp, muscle rigidity, muscle spasticity

MGI Mouse Phenotypes related to Temporal Arteritis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.1 CCL5 CCR6 CD4 CD40LG CD8A IFNG
2 cardiovascular system MP:0005385 10.02 CCR6 CD40LG CRP IFNG IL1RN IL6
3 homeostasis/metabolism MP:0005376 10 APOH CCR6 CD4 CD40LG CRP IFNG
4 immune system MP:0005387 9.86 CCL2 CCL5 CCR6 CD4 CD40LG CD8A
5 integument MP:0010771 9.28 CD4 CD40LG CD8A IFNG IL1RN IL6

Drugs & Therapeutics for Temporal Arteritis

Drugs for Temporal Arteritis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 101)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Ibandronic Acid Phase 4
2 Omega 3 Fatty Acid Phase 4
3
Infliximab Approved Phase 3 170277-31-3
4
Adalimumab Approved Phase 3 331731-18-1 16219006
5
Hydroxychloroquine Approved Phase 3 118-42-3 3652
6
Etanercept Approved, Investigational Phase 3 185243-69-0
7
Alendronate Approved Phase 3 66376-36-1, 121268-17-5 2088
8
Metformin Approved Phase 2, Phase 3 657-24-9 14219 4091
9
Upadacitinib Approved, Investigational Phase 3 1310726-60-3 58557659
10
leucovorin Approved Phase 3 58-05-9 6006 143
11
Leflunomide Approved, Investigational Phase 3 75706-12-6 3899
12
Epinephrine Approved, Vet_approved Phase 3 51-43-4 5816
13
Racepinephrine Approved Phase 3 329-65-7 838
14
Bosentan Approved, Investigational Phase 3 147536-97-8 104865
15
Methotrexate Approved Phase 3 59-05-2, 1959-05-2 126941
16
Alfacalcidol Approved, Nutraceutical Phase 3 41294-56-8 5282181
17
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3 1406-16-2
18
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
19 Gastrointestinal Agents Phase 3
20 Antiprotozoal Agents Phase 3
21 Antiparasitic Agents Phase 3
22 Antimalarials Phase 3
23 Anti-Inflammatory Agents, Non-Steroidal Phase 3
24 Trace Elements Phase 3
25 Vitamins Phase 3
26 Hydroxycholecalciferols Phase 3
27 Nutrients Phase 3
28 Micronutrients Phase 3
29 Calciferol Phase 3
30 Hypoglycemic Agents Phase 2, Phase 3
31 Protein Kinase Inhibitors Phase 3
32 Janus Kinase Inhibitors Phase 3
33 Vitamin B Complex Phase 3
34 Folic Acid Antagonists Phase 3
35 Folate Phase 3
36 Vitamin B9 Phase 3
37 Antimetabolites Phase 3
38 Interleukin 1 Receptor Antagonist Protein Phase 3
39 Epinephryl borate Phase 3
40 Pharmaceutical Solutions Phase 3
41
Naltrexone Approved, Investigational, Vet_approved Phase 2 16590-41-3 5360515
42
Ethanol Approved Phase 2 64-17-5 702
43
Aldesleukin Approved Phase 2 85898-30-2, 110942-02-4
44
Aspirin Approved, Vet_approved Phase 2 50-78-2 2244
45
Ustekinumab Approved, Investigational Phase 1, Phase 2 815610-63-0
46
tannic acid Approved Phase 2 1401-55-4
47
Benzocaine Approved, Investigational Phase 2 94-09-7, 1994-09-7 2337
48
Mavrilimumab Investigational Phase 2 1085337-57-0
49 Narcotics Phase 2
50 Narcotic Antagonists Phase 2

Interventional clinical trials:

(show top 50) (show all 124)
# Name Status NCT ID Phase Drugs
1 Tocilizumab Dose-tapering and Interruption in Patients With Giant Cell Arteritis Achieving the Clinical Remission: a Prospective, Pilot Study. Unknown status NCT03244709 Phase 4 Tocilizumab
2 Study the Link Between Steroids Pharmacokinetics and the Response to Prednisone Therapy in Giant Cell Arteritis Unknown status NCT01400464 Phase 4 Prednisone therapy and pharmacokinetic
3 Short Term Study on the Effect of a Fixed Dose of 12.5 mg of Prednisone as Starting Dose in Polymyalgia Rheumatica Completed NCT01169597 Phase 4 prednisone
4 Efficacy of Monthly Ibandronate in Women With Rheumatoid Arthritis and Reduced Bone Mineral Density Receiving Long-term Glucocorticoids Completed NCT01287533 Phase 4 Ibandronate;Placebo
5 Tocilizumab Plus a Short Prednisone Taper for Giant Cell Arteritis (GCA) Recruiting NCT03726749 Phase 4 Tocilizumab;Prednisone
6 Protocol for a Randomized, Placebo-Controlled, Double-Blinded Trial to Study the Effects of Supplementary Omega-3 Fatty Acids on Serum C-Reactive Protein Levels Terminated NCT00578578 Phase 4
7 Infliximab Therapy in Patients With Refractory Polymyalgia Rheumatica: a Double Blind Placebo Controlled Trial Unknown status NCT01423591 Phase 3 infliximab;inactive powder
8 Threecenter Placebo Controlled Three Arm Trial in Patients With Active Ankylosing Spondylitis With Prednisolone Unknown status NCT00244166 Phase 2, Phase 3 prednisolone
9 HECTHOR: A Pilot Multicenter Double-blind Randomised Study of 3 Months Treatment With Humira Added to Steroids in Giant Cell Arteritis Completed NCT00305539 Phase 3 adalimumab;placebo
10 Multicentric Double Blind Versus Placebo Randomised Study Evaluating the Corticosteroid Sparing Effect of Hydrocyschloroquine in Non Complicated Giant Cell Arteritis. Completed NCT00430807 Phase 3 hydroxychloroquine/placebo
11 The Effect of Etanercept on the Early Clinical Course of Polymyalgia Rheumatica (Pilot Study) Completed NCT00524381 Phase 3 Etanercept (Enbrel);Sodium chloride (placebo)
12 An Extension Study to Evaluate Long Term Safety of Subcutaneous Tocilizumab in Patients With Giant Cell Arteritis Who Have Completed WA28119 Core Study in France, and Subsequently Having Flare or Persisting Disease Activity. Completed NCT03202368 Phase 3 Tocilizumab
13 A Phase III, Multicenter, Randomized, Double-Blind Placebo-Controlled Study to Assess the Efficacy and Safety of Tocilizumab in Subjects With Giant Cell Arteritis Completed NCT01791153 Phase 3 Tocilizumab;Prednisone;Tocilizumab Placebo;Prednisone Placebo;Corticosteroids;Methotrexate
14 Prevention of Glucocorticoid-Induced Osteoporosis in Patients With Rheumatic Diseases. The STOP-Study: a Randomized Placebo Controlled Trial With Alendronate Versus Alfacalcidol. Completed NCT00138983 Phase 3 Alendronate versus alfacalcidol (1-alpha OH vitamin D)
15 Circadian Variation in Cytokines and the Effect of Timed Release Tablet Prednisone in Polymyalgia Rheumatica Completed NCT00836810 Phase 2, Phase 3 Timed Release Tablet Prednisone;Prednisolone
16 Prevention of Metabolic Complications of Glucocorticoid Excess - a Randomised, Doubleblind,Placebo Controlled Study Completed NCT01319994 Phase 2, Phase 3 Metformin;Placebo
17 A Multicenter, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety and Efficacy of Upadacitinib in Subjects With Giant Cell Arteritis: SELECT-GCA Recruiting NCT03725202 Phase 3 Upadacitinib;Corticosteroid (CS)
18 MEthotrexate Versus TOcilizumab for Treatment of GIant Cell Arteritis: a Multicenter, Randomized, Controlled Trial Recruiting NCT03892785 Phase 3 Prednisone treatment;Tocilizumab treatment;Methotrexate treatment
19 To Demonstrate the Ability of Abatacept in Comparison to Placebo to Obtain a Low Disease Activity [PMR-AS (CRP) Lower or Equal to 10] Without GCs (Prednisone or Prednisolone) at Week 12 in Early Onset PMR Patients. Recruiting NCT03632187 Phase 3 Abatacept;Placebos
20 Randomized, Controlled, Double-blind Study of Anakinra Against Placebo in Addition to Steroids in Giant Cell Arteritis Recruiting NCT02902731 Phase 3 PLACEBO;ANAKINRA
21 A Randomized, Double-Blind, Placebo-Controlled, Parallel Group Study to Evaluate the Efficacy of Tocilizumab as a Remission-Induction and Glucocorticoid-Sparing Regimen in Subjects With New-Onset Polymyalgia Rheumatica (PMR- SPARE) Recruiting NCT03263715 Phase 3 Tocilizumab Prefilled Syringe [Actemra];Placebos;Glucocorticoids
22 A Multicenter Randomized Placebo Controlled Treatment Study of Leflunomide in Polymyalgia Rheumatica Recruiting NCT03576794 Phase 3 Leflunomide 20 mg;Prednisolone
23 Safety and Efficacy of tocilizuMAb Versus Placebo in Polymyalgia rHeumatica With glucocORticoid dEpendence SEMAPHORE Active, not recruiting NCT02908217 Phase 3 Tocilizumab;Placebo
24 A Randomized, Controled, Open Label Trial: Comparison Between Two Standardised Corticosteroids Tapering, Respectively Short (North American) and Long (European), in Giant Cell Arteritis Not yet recruiting NCT04012905 Phase 3 Corticosteroids for Systemic Use
25 Study of the Benefit of Early Treatment With an Endothelin Inhibitor (Bosentan) in Patients With Sudden Blindness Due to Giant Cell Arteritis: CECIBO Not yet recruiting NCT03841734 Phase 3 treatment
26 A Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy and Safety of Sarilumab in Patients With Giant Cell Arteritis Suspended NCT03600805 Phase 3 Sarilumab SAR153191;Sarilumab matching placebo;Prednisone;Prednisone matching placebo
27 A Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy and Safety of Sarilumab in Patients With Polymyalgia Rheumatica Suspended NCT03600818 Phase 3 Sarilumab SAR153191 (REGN88);Sarilumab-matching placebo;Prednisone;Prednisone-matching placebo;Prednisone
28 A Multicenter, Randomized, Double-Blind, Placebo-Controlled, Parallel Group Study to Evaluate the Efficacy and Safety of Sirukumab in the Treatment of Patients With Giant Cell Arteritis Terminated NCT02531633 Phase 3 Sirukumab;Placebo to match sirukumab;Prednisone;Placebo to match prednisone
29 A Randomised, Multi-centre, Double-blind, Active-controlled, Parallel Group Study to Assess the Efficacy and Safety of Modified Release Prednisone (Lodotra®) Compared to Immediate Release Prednisone (Prednisone IR) in Subjects Suffering From Polymyalgia Rheumatica (PMR). Terminated NCT01821040 Phase 3 Lodotra®;Prednisone IR (immediate release)
30 A Phase III Randomized, Placebo-Controlled, Double-Blind Clinical Trial to Evaluate the Efficacy and Safety of Subcutaneous Abatacept in Combination With Glucocorticoid Treatment Compared to Glucocorticoid Monotherapy in Adults With Giant Cell Arteritis Withdrawn NCT03192969 Phase 3 Abatacept;Glucocorticoid Treatment
31 A Multi-Center, Randomized, Double-Blind, Placebo-Controlled, Parallel Group Study to Evaluate the Efficacy and Safety of Sirukumab in Subjects With Polymyalgia Rheumatica Withdrawn NCT02899026 Phase 3 Sirukumab;Placebo to match sirukumab;Prednisone /Prednisone placebo
32 A Phase II, Randomized, Double-blind, Placebo Controlled Study of Tocilizumab in Patients With Giant Cell Arteritis Completed NCT01450137 Phase 2 Tocilizumab + Glucocorticoids (GCs);Placebo + Glucocorticoids (GCs)
33 Concurrent Pilot Studies in Giant Cell Arteritis and Takayasu's Arteritis to Examine the Safety, Efficacy, and Immunologic Effects of Abatacept (CTLA4-Ig) in Large Vessel Vasculitis Completed NCT00556439 Phase 2 Abatacept;Placebo
34 Evaluation of Tocilizumab as an add-on Therapy to Corticoids in Giant Cell Arteritis: Proof of Concept Study. Completed NCT01910038 Phase 2 corticoids+ tocilizumab 8mg/Kg/4 weeks
35 Phase II Randomized Study of Glucocorticoids With or Without Methotrexate for Treatment of Giant Cell Arteritis Completed NCT00004686 Phase 2 methotrexate;prednisone
36 Phase II Open 24 Weeks Study to Evaluate Effect and Safety of Tocilizumab as the First Line Therapy in Subjects With Polymyalgia Rheumatica (PMR) Completed NCT01713842 Phase 2 TCZ
37 Phase IIa of Tocilizumab In the Treatment of Polymyalgia Rheumatica Completed NCT01396317 Phase 2 Tocilizumab
38 Open-Label, Safety and Tolerability Study of Suprachoroidal Triamcinolone Acetonide Via Microneedle in Subjects With Non-Infectious Uveitis Completed NCT01789320 Phase 1, Phase 2 triamcinolone acetonide (Triesence®)
39 Evaluating the Use of Gallium-68 HA-DOTATATE Positron Emission Tomography/Computerized Tomography (PET/CT) in Patients With Giant Cell Arteritis (GCA.) Recruiting NCT03812302 Phase 2
40 Ustekinumab for the Treatment of Relapse of Refractory Giant Cell Arteritis Recruiting NCT03711448 Phase 2 prednisone treatment;prednisone and ustekinumab treatment
41 Giant Cell Arteritis Treatment With Ultra-short Glucocorticoids and Tocilizumab Recruiting NCT03745586 Phase 1, Phase 2 Tocilizumab;Glucocorticoids
42 CORON-ACT - a Multicenter, Double-blind, Randomized Controlled Phase II Trial on the Efficacy and Safety of Tocilizumab in the Treatment of Coronavirus Induced Disease (COVID-19) Recruiting NCT04335071 Phase 2 Tocilizumab (TCZ);Placebo
43 Low Dose Naltrexone to Improve Physical Health in Patients With Vasculitis Recruiting NCT03482479 Phase 2 Naltrexone Hydrochloride
44 Tocilizumab for the Treatment of Familial Mediterranean Fever - A Randomized, Doubleblind, Phase II Proof of Concept Study Recruiting NCT03446209 Phase 2 Tocilizumab Infusion RoAcemtra (EU);0.9% physiological saline
45 A Phase 2, Randomized, Double-blind Placebo-controlled Study to Test the Efficacy and Safety of KPL-301 in Giant Cell Arteritis Active, not recruiting NCT03827018 Phase 2
46 Baricitinib in Relapsing Giant Cell Arteritis (GCA): A Phase II, Single-institution, Open-label Pilot Study Active, not recruiting NCT03026504 Phase 2 Baricitinib
47 A Randomized, Parallel-group, Double-blind, Placebo-controlled, Multicenter Phase 2 Trial to Investigate the Safety and Efficacy of Secukinumab (AIN457) in Patients With Giant Cell Arteritis (TitAIN) Active, not recruiting NCT03765788 Phase 2 Prednisolone;Placebo to match Secukinumab, s.c.
48 Low-dose Interleukin-2 Treatment on Polymyalgia Rheumatica Not yet recruiting NCT04062006 Phase 2 Interleukin-2
49 BAriCitinib Healing Effect in earLy pOlymyalgia Rheumatica (BACHELOR Study) Not yet recruiting NCT04027101 Phase 2 Baricitinib;Placebos
50 Open Label Phase II Randomized Non-comparative Study of SC Tocilizumab Associated With IV Pulse Steroid Versus IV Pulse Steroid Alone for the Treatment of Acute Anterior Ischemic Optic Neuropathy Associated With Giant Cell Arteritis Not yet recruiting NCT04239196 Phase 2 tocilizumab and IV steroids combination

Search NIH Clinical Center for Temporal Arteritis

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


tocilizumab

Cochrane evidence based reviews: giant cell arteritis

Genetic Tests for Temporal Arteritis

Anatomical Context for Temporal Arteritis

MalaCards organs/tissues related to Temporal Arteritis:

40
Testes, Tongue, Skin, Eye, Bone, Brain, Liver

Publications for Temporal Arteritis

Articles related to Temporal Arteritis:

(show top 50) (show all 4304)
# Title Authors PMID Year
1
Polymyalgia rheumatica and giant-cell arteritis. 56 61
12140303 2002
2
Familial occurrence of temporal arteritis. 56 61
9058678 1997
3
Familial association of giant cell arteritis. A case report and brief review. 56 61
7447573 1981
4
Familial polymyalgia rheumatica. 56 61
7268390 1981
5
Familial aggregation of polymyalgia rheumatica and giant cell arteritis. 61 56
4810661 1974
6
Tocilizumab monotherapy for polymyalgia rheumatica: A prospective, single-center, open-label study. 61 42
31625288 2019
7
Treat to Target: A Valid Concept for Management of Polymyalgia Rheumatica and Giant Cell Arteritis? 61 42
31564296 2019
8
Early large vessel systemic vasculitis in adults. 61 42
31810548 2019
9
New insights into the pathogenesis of giant cell arteritis and hopes for the clinic. 61 52
26367100 2016
10
Giant cell arteritis in Asians: a comparative study. 56
20584707 2011
11
Giant cell arteritis among Hispanic Americans. 56
17188057 2007
12
Visual deterioration in giant cell arteritis patients while on high doses of corticosteroid therapy. 56
12799248 2003
13
The role of unilateral temporal artery biopsy. 56
12623818 2003
14
Thrombocytosis in patients with biopsy-proven giant cell arteritis. 56
12093648 2002
15
Increased endothelin-1 plasma levels in giant cell arteritis: a report on four patients. 56
11755863 2002
16
The epidemiology of giant cell arteritis : a 12-year retrospective study. 56
11382644 2001
17
The HLA-DRB1 locus as a genetic component in giant cell arteritis. Mapping of a disease-linked sequence motif to the antigen binding site of the HLA-DR molecule. 56
1469092 1992
18
Novel ultrasonographic Halo Score for giant cell arteritis: assessment of diagnostic accuracy and association with ocular ischaemia. 42
31900304 2020
19
18F-FDG PET in Giant Cell Arteritis. 42
31876832 2020
20
Interleukin-1RN gene polymorphisms in elderly patients with rheumatic inflammatory chronic conditions: Association of IL-1RN*2/2 genotype with polymyalgia rheumatica. 61 54
19026700 2009
21
HLA-DRB1 allele distribution in polymyalgia rheumatica and giant cell arteritis: influence on clinical subgroups and prognosis. 61 54
15305244 2004
22
Correlation between 18-fluorodeoxyglucose accumulation in large vessels and serological markers of inflammation in polymyalgia rheumatica: a quantitative PET study. 61 54
15194587 2004
23
[Serum amyloid A as a useful index of disease activity in polymyalgia rheumatica]. 61 54
12910963 2003
24
RANTES gene polymorphism in polymyalgia rheumatica, giant cell arteritis and rheumatoid arthritis. 61 54
10895380 2000
25
Favorable role of interleukin 10 in patients with polymyalgia rheumatica. 61 54
10381050 1999
26
HLA-DRB1 alleles associated with polymyalgia rheumatica in northern Italy: correlation with disease severity. 54 61
10225816 1999
27
Circulating levels of IL-1beta, IL-6 and soluble IL-2 receptor in polymyalgia rheumatica and giant cell arteritis and rheumatoid arthritis. 61 54
9714363 1998
28
Cytokines and adhesion molecules in patients with polymyalgia rheumatica. 54 61
9714354 1998
29
Distribution of HLA-DRB1 alleles of patients with polymyalgia rheumatica and giant cell arteritis in a Mediterranean population. 61 54
9458210 1998
30
Role of peripheral CD8 lymphocytes and soluble IL-2 receptor in predicting the duration of corticosteroid treatment in polymyalgia rheumatica and giant cell arteritis. 54 61
7677440 1995
31
The CRP initial response to treatment as prognostic factor in patients with polymyalgia rheumatica. 61 54
7641508 1995
32
[HLA DRB1 polymorphism in rhizomelic pseudo-polyarthritis and Horton disease]. 61 54
8525160 1995
33
HLA-DRB1 alleles in polymyalgia rheumatica, giant cell arteritis, and rheumatoid arthritis. 61 54
8147928 1994
34
[Complement activation by C-reactive protein in various inflammatory diseases (in vitro)]. 54 61
1563753 1992
35
[Glycoforms of serum alpha 1-antichymotrypsin studied by immunoaffino-electrophoresis. From the fundamental aspect to clinical applications]. 54 61
1759731 1991
36
Microheterogeneity of acute phase proteins in the differentiation of polymyalgia rheumatica from polymyositis. 61 54
1705291 1990
37
Association of osteoarthritis with homozygosity for a 5.8 kb Taq I fragment of the alpha 1-antichymotrypsin gene. 61 54
1974162 1990
38
Microheterogeneity of alpha 1-antichymotrypsin in the management of giant-cell arteritis and polymyalgia rheumatica. 54 61
2165887 1990
39
Autoimmune pulmonary alveolar proteinosis prior to myelodysplastic syndrome. 61
32377347 2020
40
Shoulder ultrasound and serum lactate dehydrogenase predict inadequate response to glucocorticoid treatment in patients with polymyalgia rheumatica. 61
32062696 2020
41
Tocilizumab failure in malignancy-related polymyalgia rheumatica. 61
31838039 2020
42
A new era for giant cell arteritis. 61
31582795 2020
43
Impact of Temporal Artery Biopsy on Clinical Management of Suspected Giant Cell Arteritis. 61
32554192 2020
44
Bilateral juvenile temporal arteritis mimicking clinical features of classic giant cell arteritis. 61
32530073 2020
45
Prognostic scoring systems and comorbidities in chronic myelomonocytic leukaemia: a nationwide population-based study. 61
32501529 2020
46
The prevalence and impact of depression in primary systemic vasculitis: a systematic review and meta-analysis. 61
32494889 2020
47
Rheumatologic Disorders and the Nervous System. 61
32487898 2020
48
Immune checkpoint inhibitor-induced myositis, the earliest and most lethal complication among rheumatic and musculoskeletal toxicities. 61
32535094 2020
49
Rheumatic immune-related adverse events associated with cancer immunotherapy: A nationwide multi-center cohort. 61
32535092 2020
50
Polymyalgia Rheumatica: a Common Disease in Seniors. 61
32562020 2020

Variations for Temporal Arteritis

Expression for Temporal Arteritis

Search GEO for disease gene expression data for Temporal Arteritis.

Pathways for Temporal Arteritis

Pathways related to Temporal Arteritis according to GeneCards Suite gene sharing:

(show top 50) (show all 61)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.85 TNFRSF1B TNFRSF10A TNF IL6 CD40LG CD4
2
Show member pathways
13.78 TNFRSF1B TNF SERPINA3 PTPN22 PRTN3 MPO
3
Show member pathways
13.66 TNFRSF1B TNFRSF10A TNF IL6 IL1RN IFNG
4
Show member pathways
13.57 TNFRSF1B TNFRSF10A TNF IL6 IFNG CD4
5
Show member pathways
13.42 TNFRSF1B TNFRSF10A TNF IL6 CD40LG CD4
6
Show member pathways
13.33 TNFRSF1B TNF PRTN3 IL6 IL1RN IFNG
7
Show member pathways
13.28 TNFRSF1B TNFRSF10A TNF PTPN22 IL6 CD40LG
8
Show member pathways
13.1 TNFRSF1B TNFRSF10A TNF IL6 CD4 CCL5
9
Show member pathways
12.96 TNFRSF1B TNF IL6 CD4 CCL5 CCL2
10
Show member pathways
12.85 TNF IL6 IFNG HLA-DRB1 CD8A CD40LG
11 12.81 TNF IL6 IFNG HLA-DRB1 CCL5 CCL2
12
Show member pathways
12.81 TNFRSF10A TNF IL6 IFNG HLA-DRB1 CCL5
13
Show member pathways
12.69 TNFRSF1B TNF IFNG CD40LG CD4
14
Show member pathways
12.66 TNFRSF1B TNF IFNG HLA-DRB1 CD40LG CD4
15
Show member pathways
12.62 TNF IL6 IFNG HLA-DRB1 CD4
16
Show member pathways
12.62 TNF IL6 IFNG CD8A CD40LG CD4
17
Show member pathways
12.61 TNF MPO IL6 IFNG CD4 CCL2
18 12.36 TNF IL6 HLA-DRB1 CD4
19
Show member pathways
12.35 TNF IL6 IFNG CCL2
20
Show member pathways
12.29 TNF IFNG HLA-DRB1 CD40LG
21 12.28 TNFRSF1B TNFRSF10A TNF CD40LG
22
Show member pathways
12.28 TNFRSF1B TNFRSF10A TNF IL6 CCR6 CCL5
23 12.27 TNF IL6 CCL5 CCL2
24 12.26 TNF IL6 IFNG HLA-DRB1
25 12.16 HLA-DRB1 CD8A CD40LG CD4
26
Show member pathways
12.09 TNF SERPINA3 MPO IL6 IFNG CRP
27 12.04 TNF IL6 IFNG CCL2
28 12.02 TNFRSF1B TNF IL6 CCL2
29
Show member pathways
12.01 IFNG HLA-DRB1 CD8A CD4
30 11.99 TNFRSF1B TNF IL6 CCL5 CCL2
31
Show member pathways
11.97 TNF IL6 IFNG CD4
32 11.97 TNF MPO IL6 IFNG CD8A CD4
33 11.93 TNF IL6 HLA-DRB1 CD8A CD4
34
Show member pathways
11.85 TNFRSF1B TNFRSF10A TNF CD40LG
35 11.84 TNFRSF1B TNF PTPN22 MPO IL1RN IFNG
36 11.83 TNF IFNG CD8A CD4 CCR6
37 11.81 TNF IL6 IFNG HLA-DRB1 CCL5 CCL2
38 11.8 PRTN3 MPO CD4
39
Show member pathways
11.78 TNF IFNG CD40LG
40
Show member pathways
11.76 TNFRSF1B TNF CD40LG
41 11.76 PTPN22 HLA-DRB1 CD8A CD4
42 11.76 TNF IL6 IFNG CD8A CD4
43
Show member pathways
11.69 TNF IL6 IFNG CD40LG
44
Show member pathways
11.68 TNF IFNG CD8A
45 11.68 TNF IL6 CCL5 CCL2
46 11.59 TNF IL6 IFNG
47
Show member pathways
11.59 TNFRSF1B TNF IFNG
48 11.56 TNF IFNG CCL2
49 11.56 TNF MPO IL6
50 11.55 TNF IL6 IFNG CD40LG CCL2

GO Terms for Temporal Arteritis

Cellular components related to Temporal Arteritis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.8 TNFRSF1B TNF SERPINA3 PRTN3 MPO IL6
2 external side of plasma membrane GO:0009897 9.73 TNF HLA-DRB1 CD8A CD40LG CD4 CCR6
3 membrane raft GO:0045121 9.72 TNFRSF1B TNFRSF10A TNF PRTN3 CD4
4 cell surface GO:0009986 9.7 TNFRSF10A TNF HLA-DRB1 CD40LG CD4 CCR6
5 extracellular space GO:0005615 9.44 TNF SERPINA3 PRTN3 MPO IL6 IL1RN

Biological processes related to Temporal Arteritis according to GeneCards Suite gene sharing:

(show all 35)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.26 TNFRSF10A IL6 IL1RN HLA-DRB1 CD40LG CD4
2 positive regulation of gene expression GO:0010628 10.06 TNF PTPN22 IL6 IFNG CRP
3 cell surface receptor signaling pathway GO:0007166 9.93 TNFRSF1B TNFRSF10A IFNG CD8A CD4 CCL2
4 positive regulation of protein phosphorylation GO:0001934 9.92 TNF IFNG HLA-DRB1 CD4
5 cellular response to lipopolysaccharide GO:0071222 9.91 TNFRSF1B TNF IL6 CCL2
6 chemokine-mediated signaling pathway GO:0070098 9.83 CCR6 CCL5 CCL2
7 regulation of insulin secretion GO:0050796 9.83 TNF IFNG CCL5
8 cellular response to organic cyclic compound GO:0071407 9.82 TNF CCL5 CCL2
9 response to glucocorticoid GO:0051384 9.81 TNF IL6 IL1RN
10 positive regulation of smooth muscle cell proliferation GO:0048661 9.81 TNF IL6 CCL5
11 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.81 TNF IL6 IFNG CCL5
12 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.8 TNF PTPN22 HLA-DRB1 CD4 CCL5 CCL2
13 positive regulation of T cell proliferation GO:0042102 9.78 IL6 CD40LG CD4 CCL5
14 monocyte chemotaxis GO:0002548 9.77 IL6 CCL5 CCL2
15 protein kinase B signaling GO:0043491 9.76 TNF CCL5 CCL2
16 cytokine-mediated signaling pathway GO:0019221 9.76 TNFRSF1B TNF PRTN3 IL6 IL1RN CD4
17 acute-phase response GO:0006953 9.75 SERPINA3 IL6 CRP
18 positive regulation of JAK-STAT cascade GO:0046427 9.73 TNF IL6 CCL5
19 extrinsic apoptotic signaling pathway GO:0097191 9.71 TNFRSF1B TNFRSF10A TNF IFNG
20 macrophage differentiation GO:0030225 9.7 IFNG HLA-DRB1 CD4
21 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.67 TNFRSF1B TNF IFNG
22 lipopolysaccharide-mediated signaling pathway GO:0031663 9.67 TNF PTPN22 CCL5 CCL2
23 negative regulation of amyloid-beta clearance GO:1900222 9.66 TNF IFNG
24 positive regulation of viral entry into host cell GO:0046598 9.66 HLA-DRB1 CD4
25 positive regulation of interleukin-1 beta biosynthetic process GO:0050725 9.65 TNF IFNG
26 humoral immune response GO:0006959 9.65 TNF IL6 IFNG CCR6 CCL2
27 negative regulation of interleukin-1-mediated signaling pathway GO:2000660 9.63 IL6 IL1RN
28 positive regulation of NMDA glutamate receptor activity GO:1904783 9.62 IFNG CCL2
29 negative regulation of lipid storage GO:0010888 9.61 TNF IL6 CRP
30 inflammatory response GO:0006954 9.61 TNFRSF1B TNF SERPINA3 IL6 IL1RN CRP
31 regulation of immunoglobulin secretion GO:0051023 9.6 TNF CD40LG
32 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.57 TNF IFNG
33 positive regulation of vitamin D biosynthetic process GO:0060557 9.55 TNF IFNG
34 positive regulation of nitrogen compound metabolic process GO:0051173 9.54 TNF IFNG
35 immune response GO:0006955 9.4 TNFRSF1B TNF IL6 IL1RN IFNG HLA-DRB1

Molecular functions related to Temporal Arteritis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.93 TNFRSF1B TNFRSF10A TNF SERPINA3 PTPN22 PRTN3
2 cytokine activity GO:0005125 9.17 TNF IL6 IL1RN IFNG CD40LG CCL5

Sources for Temporal Arteritis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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