MCID: ANT039
MIFTS: 55

Antisynthetase Syndrome

Categories: Bone diseases, Immune diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Antisynthetase Syndrome

MalaCards integrated aliases for Antisynthetase Syndrome:

Name: Antisynthetase Syndrome 12 73 20 58 6 15 17 70
Anti-Jo1 Syndrome 20 58
As Syndrome 20 58

Characteristics:

Orphanet epidemiological data:

58
antisynthetase syndrome
Inheritance: Not applicable; Prevalence: 1-9/100000 (Worldwide); Age of onset: Adult,Elderly; Age of death: adult,elderly,young Adult;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare respiratory diseases
Rare systemic and rhumatological diseases


Summaries for Antisynthetase Syndrome

GARD : 20 Antisynthetase syndrome is a chronic autoimmune condition that affects the muscles and various other parts of the body. The signs and symptoms can vary but may include muscle inflammation (myositis), polyarthritis (inflammation of many joints), interstitial lung disease, thickening and cracking of the hands, and Raynaud phenomenon. The exact underlying cause is unknown; however, the production of autoantibodies ( antibodies that attack normal cells ) that attack certain enzymes in the body called 'aminoacyl- tRNA synthetases' appears to be linked to the cause of the syndrome. These autoantibodies may arise after viral infections, or patients may have a genetic predisposition. Treatment is based on the signs and symptoms present in each person but may include corticosteroids, immunosuppressive medications, and/or physical therapy.

MalaCards based summary : Antisynthetase Syndrome, also known as anti-jo1 syndrome, is related to lung disease and polymyositis. An important gene associated with Antisynthetase Syndrome is HARS1 (Histidyl-TRNA Synthetase 1), and among its related pathways/superpathways are Gene Expression and tRNA Aminoacylation. The drugs Colchicine and Paclitaxel have been mentioned in the context of this disorder. Affiliated tissues include eye, ovary and bone, and related phenotypes are muscle weakness and respiratory insufficiency

Disease Ontology : 12 An autoimmune disease that is characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease, and serum autoantibodies to aminoacyl transfer RNA synthetases.

Wikipedia : 73 Anti-synthetase syndrome is an autoimmune disease associated with interstitial lung disease,... more...

Related Diseases for Antisynthetase Syndrome

Diseases related to Antisynthetase Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 150)
# Related Disease Score Top Affiliating Genes
1 lung disease 31.2 MUC5B IL1B IFIH1 EPRS1
2 polymyositis 31.0 TARS1 HARS1 EXOSC10
3 interstitial lung disease 30.9 TRIM21 MUC5B MORC3 IL1B IFIH1
4 nonspecific interstitial pneumonia 30.6 TRIM21 MUC5B IFIH1
5 myositis 30.5 TRIM33 TRIM21 TARS1 IL1B IFIH1 HARS1
6 exanthem 30.5 TRIM21 IL1B IFIH1
7 myopathy 10.8
8 raynaud phenomenon 10.7
9 dermatomyositis 10.6
10 abdominal obesity-metabolic syndrome quantitative trait locus 2 10.6
11 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 10.6
12 respiratory failure 10.4
13 autoimmune disease 10.4
14 connective tissue disease 10.4
15 pulmonary fibrosis 10.4
16 rheumatoid arthritis 10.3
17 pulmonary hypertension 10.3
18 calcinosis 10.3
19 adult respiratory distress syndrome 10.3
20 arthropathy 10.3
21 arthritis 10.3
22 scleroderma, familial progressive 10.2
23 systemic scleroderma 10.2
24 pulmonary hypertension, primary, 1 10.2
25 bronchiectasis 10.2
26 dysphagia 10.2
27 charcot-marie-tooth disease, axonal, type 2u 10.2 KARS1 EPRS1
28 deafness, autosomal recessive 89 10.2 KARS1 EPRS1
29 charcot-marie-tooth disease, axonal, type 2n 10.2 KARS1 EPRS1
30 charcot-marie-tooth disease, dominant intermediate c 10.2 KARS1 EPRS1
31 pulmonary fibrosis, idiopathic 10.1
32 hemopericardium 10.1
33 pericardial effusion 10.1
34 myocarditis 10.1
35 autosomal dominant distal hereditary motor neuronopathy 10.1 KARS1 EPRS1
36 charcot-marie-tooth disease, axonal, type 2d 10.1 KARS1 EPRS1
37 plica syndrome 10.1
38 keratosis 10.1
39 synovitis 10.1
40 pneumonia 10.1
41 orbital plasma cell granuloma 10.1 TRIM33 MORC3
42 chronic orbital inflammation 10.1 TRIM33 MORC3
43 pericardium disease 10.1 TRIM21 IL1B
44 diffuse scleroderma 10.1 TRIM21 EXOSC10
45 dyskinesia of esophagus 10.0 TRIM21 EXOSC10
46 raynaud disease 10.0 TRIM21 EXOSC10
47 combined oxidative phosphorylation deficiency 12 10.0 TARS2 EPRS1
48 fibrosis of extraocular muscles, congenital, 1 10.0
49 inclusion body myositis 10.0
50 sarcoidosis 1 10.0

Graphical network of the top 20 diseases related to Antisynthetase Syndrome:



Diseases related to Antisynthetase Syndrome

Symptoms & Phenotypes for Antisynthetase Syndrome

Human phenotypes related to Antisynthetase Syndrome:

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001324
2 respiratory insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002093
3 autoimmunity 58 31 hallmark (90%) Very frequent (99-80%) HP:0002960
4 pulmonary fibrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002206
5 myalgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003326
6 cough 58 31 hallmark (90%) Very frequent (99-80%) HP:0012735
7 chest pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0100749
8 myositis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100614
9 fever 58 31 frequent (33%) Frequent (79-30%) HP:0001945
10 elevated serum creatine kinase 58 31 frequent (33%) Frequent (79-30%) HP:0003236
11 emg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0003457
12 keratoconjunctivitis sicca 58 31 frequent (33%) Frequent (79-30%) HP:0001097
13 lack of skin elasticity 58 31 frequent (33%) Frequent (79-30%) HP:0100679
14 edema 58 31 frequent (33%) Frequent (79-30%) HP:0000969
15 xerostomia 58 31 frequent (33%) Frequent (79-30%) HP:0000217
16 hypotonia 31 frequent (33%) HP:0001252
17 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
18 recurrent respiratory infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002205
19 telangiectasia of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0100585
20 neoplasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0002664
21 abnormality of the voice 58 31 occasional (7.5%) Occasional (29-5%) HP:0001608
22 joint dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001373
23 myocarditis 58 31 occasional (7.5%) Occasional (29-5%) HP:0012819
24 skin rash 58 31 occasional (7.5%) Occasional (29-5%) HP:0000988
25 pulmonary arterial hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0002092
26 pruritus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000989
27 aortic regurgitation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001659
28 muscular hypotonia 58 Frequent (79-30%)
29 interstitial pulmonary abnormality 58 Very frequent (99-80%)

Drugs & Therapeutics for Antisynthetase Syndrome

Drugs for Antisynthetase Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 1355)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Colchicine Approved Phase 4 64-86-8 6167 2833
2
Paclitaxel Approved, Vet_approved Phase 4 33069-62-4 36314
3
Ganirelix Approved Phase 4 124904-93-4, 123246-29-7 25081094
4
Terlipressin Approved, Investigational Phase 4 14636-12-5 72081
5
Phenytoin Approved, Vet_approved Phase 4 57-41-0 1775
6
Vigabatrin Approved Phase 4 60643-86-9, 68506-86-5 5665
7
Zonisamide Approved, Investigational Phase 4 68291-97-4 5734
8
Nitrazepam Approved Phase 4 146-22-5 4506
9
Carbamazepine Approved, Investigational Phase 4 298-46-4 2554
10
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
11
Cangrelor Approved Phase 4 163706-06-7 9854012
12
Losartan Approved Phase 4 114798-26-4 3961
13
Olmesartan Approved, Investigational Phase 4 144689-24-7, 144689-63-4 158781 130881
14
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
15 Apricot Approved Phase 4
16
Fenoldopam Approved Phase 4 67227-56-9, 67227-57-0 3341
17
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
18
Simvastatin Approved Phase 4 79902-63-9 54454
19
Tirofiban Approved Phase 4 144494-65-5 60947
20
Trazodone Approved, Investigational Phase 4 19794-93-5 5533
21
Sertraline Approved Phase 4 79617-96-2 68617
22
Polyestradiol phosphate Approved Phase 4 28014-46-2
23
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
24
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
25
Beractant Approved Phase 4 108778-82-1
26
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
27
Ondansetron Approved Phase 4 99614-02-5 4595
28
Nitroglycerin Approved, Investigational Phase 4 55-63-0 4510
29
Histamine Approved, Investigational Phase 4 51-45-6, 75614-87-8 774
30
Pravastatin Approved Phase 4 81093-37-0 54687
31
Atorvastatin Approved Phase 4 134523-00-5 60823
32
Phenprocoumon Approved, Investigational Phase 4 435-97-2 9908 54680692
33
Fesoterodine Approved Phase 4 286930-03-8, 286930-02-7 6918558
34
Celecoxib Approved, Investigational Phase 4 169590-42-5 2662
35
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
36
Budesonide Approved Phase 4 51333-22-3 63006 5281004
37
Streptokinase Approved, Investigational Phase 4 9002-01-1
38
Modafinil Approved, Investigational Phase 4 68693-11-8 4236
39
Doxazosin Approved Phase 4 74191-85-8 3157
40
Drospirenone Approved Phase 4 67392-87-4 68873
41
Desogestrel Approved Phase 4 54024-22-5 40973
42
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
43
Eptifibatide Approved, Investigational Phase 4 188627-80-7 123610
44
Tetracycline Approved, Vet_approved Phase 4 60-54-8 5353990
45
Bosentan Approved, Investigational Phase 4 147536-97-8 104865
46
Ofloxacin Approved Phase 4 82419-36-1 4583
47
Levofloxacin Approved, Investigational Phase 4 100986-85-4 149096
48
Atenolol Approved Phase 4 29122-68-7 2249
49
Riluzole Approved, Investigational Phase 4 1744-22-5 5070
50
Ezetimibe Approved Phase 4 163222-33-1 150311

Interventional clinical trials:

(show top 50) (show all 10000)
# Name Status NCT ID Phase Drugs
1 The Study on the Effects of Traditional Chinese Medicine Through a Series of N-of-1 Trials Based on the Mathematical Model of "Carryover Effect" Unknown status NCT03147443 Phase 4 Individualized Decoction;placebo;Tested drug minus heat-clearing herbs
2 Intracoronary Cocktail Injection Improves Outcomes of Fractional Flow Reserve Guided Percutaneous Coronary Intervention in Patients With Acute Coronary Syndrom (ACS) Unknown status NCT02592720 Phase 4 cocktail
3 Effect of Clostridium Butyricum in Treating Irritable Bowel Syndrome: A Randomized, Double-blinded,Placebo- Controlled Multicenter Study Unknown status NCT02614963 Phase 4 Clostridium Butyricum;placebo
4 The Therapy of Tacrolimus Combined With Entecavir on HBV Associated Glomerulonephritis : A Multicenter, Prospective, Randomized, Controlled, Single-blind Trial. Unknown status NCT03062813 Phase 4 Tacrolimus &entecavir;placebo & entecavir
5 Endometrial Thickness And Subendometrial Vascularity In Anovulatory Polycystic Ovarian Syndrome Patients Treated by Metformin Unknown status NCT03486626 Phase 4 Metformin
6 Adjusted Steroid Therapy in Children With Idiopathic Nephrotic Syndrome Unknown status NCT02649413 Phase 4 Prednisone
7 Early Administration of Surfactant in Spontaneous Breathing (TAKE CARE) Versus InSurE (Intubation, Surfactant, Extubation) : A Pilot Study Unknown status NCT01329432 Phase 4
8 Study of Safety, Immunogenicity and Immunological Memory of 7-valent Pneumococcal Conjugate Vaccine in Children With Idiopathic Nephrotic Syndrome Unknown status NCT01346007 Phase 4
9 A Randomised Controlled Trial of the Ketogenic Diet in the Treatment of Epilepsy in Children Under the Age of Two Years Unknown status NCT02205931 Phase 4 Antiepileptic drug therapy
10 Prospective Assessment of Valproate on Ethanol Withdrawal Unknown status NCT03235531 Phase 4 Valproate;Lorazepam
11 Preventive Application of GnRH Antagonist on Early Ovarian Hyperstimulation Syndrome in High-risk Women: A Prospective Randomized Trial Unknown status NCT03188471 Phase 4 GnRH antagonist;aspirin
12 Functional Improvement and Ultrasound Tissue Characterisation of the Achilles Tendon Following Sodium Hyaluronate Injection for Plantaris Friction Syndrome Unknown status NCT03077009 Phase 4 Hyaluronic Acid
13 Clopidogrel Reloading in Patients With Non-ST Elevation Acute Coronary Syndrome Undergoing PCI on Chronic Clopidogrel Therapy. Results of the ARMYDA RELOAD ACS (Antiplatelet Therapy for Reduction of MYocardial Damage During Angioplasty in Acute Coronary Syndrome) Randomized Trial. Unknown status NCT01572129 Phase 4 Clopidogrel;Placebo
14 Effects of the Continuous Positive Airway Pressure Ventilation on the Prevalence of the Metabolic Syndrome and Cardiac Morpho-Functional Characteristics in Sleep Apnea Syndrome Unknown status NCT00517777 Phase 4
15 Telmisartan vs Ramipril for Reduction of Inflammation and Recruitment of Endothelial Progenitor Cells After Acute Coronary Syndrome Unknown status NCT00702936 Phase 4 TELMISARTAN;RAMIPRIL
16 Role Of Saccharomyces Boulardii In Diarrhea Dominant Irritable Bowel Syndrome Unknown status NCT00543478 Phase 4 Saccharomyces boulardii;Methyl cellulose powder (low viscosity)
17 Sex Steroids in Sjögren's Syndrome: Effect of Substitution Treatment on Fatigue Unknown status NCT00543166 Phase 4 dehydroepiandrosterone
18 Multi-centre Clinical Trial on Hormone Replacement Treatment in China Unknown status NCT01698164 Phase 4 estradiol plus MPA;Ximingting Tablet;estradiol plus progesterone
19 Effects of Zolpidem CR in Sleep and Clinical Outcomes of Patients in Cardiac Intensive Care Unit Unknown status NCT01920334 Phase 4 Zolpidem CR 12.5mg;Placebo
20 Changes in Microbiota and Metabolomic Profile Between Rifaximin Responders and Non-responders In Diarrhoea-Predominant Irritable Bowel Syndrome Unknown status NCT03557788 Phase 4 Rifaximin Oral Tablet
21 Comparison of Platelet Reactivity in Patients With Acute Coronary Syndrome Given Patent Clopidogrel Versus Generic Clopidogrel: Randomized Controlled Trial Unknown status NCT02628587 Phase 4 Generic clopidogrel;Patent clopidogrel
22 Efficacy of Proklama on Patients' Symptoms With Irritable Bowel Syndrome: Clinical Trial, Double- Blind, Crossover, Controlled Study vs. Placebo Unknown status NCT02573844 Phase 4 Proklama
23 Is Microbiota Community Associated With Clinical Response to a Low FODMAP Diet in Patients With Irritable Bowel Syndrome Unknown status NCT02565550 Phase 4
24 A Randomized Prospective Multicenter Trial to Examine Vascular Healing at 1 and 6 Month(s) After Deployment of TItanium-nitride-oxide-coated OPTIMAX™ Bio-active-stent (BAS) Stent and SYNERGY™ Everolimus-Eluting Stent (EES) in Patients With Acute Coronary Syndromes by Means of Optical Coherence Tomography Unknown status NCT02464397 Phase 4
25 A comParison on Platelet Resistance With Ticagrelor or Standard-Dose Clopidogrel Study Among SeVerE Chronic Kidney Disease/ End-Stage-Renal-Disease Patients With Recent Acute Coronary Syndrome. Unknown status NCT02459288 Phase 4 Clopidogrel first;Ticagrelor first
26 Effect of Mosapride on Gut Transit in Patients With Chronic Constipation or Constipated Irritable Bowel Syndrome and Healthy Subjects Unknown status NCT02433847 Phase 4 Mosapride
27 Efficacy and Safety of the YUKON Drug Eluting Stent in Diffuse Coronary Artery Disease Unknown status NCT01418794 Phase 4
28 Intervention Study Measuring Inflammatory Cytokine Levels in the Serum of Patients Who Underwent an Acute MI, and the Influence of Vitamin D on These Levels Unknown status NCT01115842 Phase 4 Vitamin D
29 A Double Blind Placebo Controlled Randomised Trial to Study the Effects of Birch Pollen Specific Immunotherapy (BP-SIT) on the Symptoms of the Oral Allergy Syndrome in Adult Patients Unknown status NCT01431859 Phase 4
30 The Effect of Sodium Oxybate in Patients With Chronic Fatigue Syndrome. Unknown status NCT01584934 Phase 4 Sodium oxybate;Placebo
31 Effects of NMBA on the Alteration of Transpulmonary Pressures at the Early Phase of ARDS Unknown status NCT01573715 Phase 4 NIMBEX;NIMBEX
32 Effects of Selective and Nonselective Beta-blockade on Platelet Aggregation in Patients With Acute Coronary Syndrome Unknown status NCT02809820 Phase 4 Carvedilol;Metoprolol
33 Comparative Effectiveness and Safety Analysis of Low-dose and Standard-dose Ticagrelor in Chinese Patients With Acute Coronary Syndrome Undergoing Percutaneous Coronary Intervention Unknown status NCT03381755 Phase 4 half-dose ticagrelor;standard-dose ticagrelor
34 Prevention of Chronic Lung Disease (CLD) in Preterm Infants -A New Therapeutic Regimen Unknown status NCT00883532 Phase 4 budesonide;surfactant and air (placebo)
35 Research on the Antiretroviral Therapy and Immune Reconstitution on Chinese HIV/AIDS Patients Unknown status NCT00872417 Phase 4 first line ARV (3TC+NVP+D4T or 3TC+NVP+AZT);second line ARV therapy (3TC+TDF+LPV/RTV)
36 Topical Cyclosporine for the Treatment of Dry Eye in Patients Infected With the Human Immunodeficiency Virus Unknown status NCT00797030 Phase 4 cyclosporine and sodium carboximethycellulose;sodium carboximethycellulose
37 Single-center Randomized Controlled Study of Omeprazole and Pantoprazole Antiplatelet Effect of Clopidogrel Clinical Randomized Controlled Trials Unknown status NCT01735227 Phase 4 omeprazole;Pantoprazole
38 Norepinephrine Versus Ephedrin for Prevention of Post Spinal Anesthesia in Cesarean Section Unknown status NCT03719625 Phase 4 Ephedrine;Norepinephrine
39 0.3% Sodium Hyaluronate in the Treatment of Dry Eye of Diabetic Patients Unknown status NCT02595606 Phase 4 0.3% Sodium Hyaluronate
40 COmparison of the Pharmacodynamics and Pharmacokinetics of Ticagrelor Versus Clopidogrel in Patients With Chronic Kidney Disease and Non-ST-Elevation Acute Coronary Syndromes(OPT-CKD Trial) Unknown status NCT02578537 Phase 4 Ticagrelor;Clopidogrel
41 Intensive Lipid Lowering Treatment in Patients With Non-ST-elevation ACS Undergoing Percutaneous Coronary Intervention Unknown status NCT01040936 Phase 4 Atorvastatin;Atorvastatin
42 Clinical Efficacy of Changing the InterStim® Parameters in Patients With Interstitial Cystitis/Painful Bladder Syndrome Unknown status NCT01312259 Phase 4
43 Effect of Vitamin D on Metabolic Parameters in Patients With the Metabolic Syndrome Unknown status NCT01237769 Phase 4 Vitamin D3
44 Nanjing First Hospital, Nanjing Medical University Unknown status NCT01171911 Phase 4 Nicardipine , Esmolol
45 The Effect and Risk of Conjugated Estrogens Combined With Different Types of Progestin in the Treatment of Menopause Syndrome During Window Phase Unknown status NCT03436303 Phase 4 CEE 0.625 mg/MP 100mg;CEE 0.3 mg/MP 100mg;CEE 0.625mg/dydrogesterone
46 Morphine Versus Methadone for Opiate Exposed Infants With Neonatal Abstinence Syndrome Unknown status NCT02851303 Phase 4 Morphine;Methadone
47 A Prospective, Multi-center, Randomized, Controlled Study to Evaluate the Effect of DiPeptidyl-Peptidase 4 Inhibitor on Vascular Healing After Biodegradable Polymer Based Sirolimus Eluting Stent Implantation in Diabetic Patients: OCT Study (DIAMOND-OCT) Unknown status NCT02802644 Phase 4 Sitagliptin;Non DPP-4 Inhibitor
48 Ticagrelor Versus Clopidogrel in Myocardial Salvage in Patients With ST-elevation Myocardial Infarction (STEMI) Undergoing Primary Percutaneous Coronary Intervention: A Magnetic Resonance Imaging Study (TIGER Study) Unknown status NCT02792712 Phase 4 Ticagrelor;Clopidogrel
49 Effect of Treatment With Stress-Doses Glucocorticoid on Mortality in Patients With ARDS and Relative Adrenal Insufficiency Unknown status NCT00773058 Phase 4 hydrocortisone;placebo
50 Treatment of the Dumping Syndrome With Lanreotide Autogel® Unknown status NCT00543179 Phase 4 Somatuline (Lanreotide Autogel®)

Search NIH Clinical Center for Antisynthetase Syndrome

Genetic Tests for Antisynthetase Syndrome

Anatomical Context for Antisynthetase Syndrome

MalaCards organs/tissues related to Antisynthetase Syndrome:

40
Eye, Ovary, Bone, Endothelial, Spinal Cord, Bone Marrow, Liver

Publications for Antisynthetase Syndrome

Articles related to Antisynthetase Syndrome:

(show top 50) (show all 581)
# Title Authors PMID Year
1
Clinical manifestations and long-term outcome of anti-Jo1 antisynthetase patients in a large cohort of Spanish patients from the GEAS-IIM group. 20 61
27139168 2016
2
Rituximab in autoimmune connective tissue disease-associated interstitial lung disease. 61 20
27060110 2016
3
Prognostic factors in a cohort of antisynthetase syndrome (ASS): serologic profile is associated with mortality in patients with interstitial lung disease (ILD). 20 61
26219488 2015
4
Antisynthetase syndrome: not just an inflammatory myopathy. 61 20
24085811 2013
5
A 65-year-old Woman With Persistent Dyspnea, Arthritis, and Raynaud's Phenomenon. 61
33386120 2021
6
Subcortical Structure Disruption in Diffusion Tensor Tractography of the Patient With the Syndrome of Irreversible Lithium-Effectuated Neurotoxicity Combined With Neuroleptic Malignant Syndrome: A Case Report. 61
33560007 2021
7
Clinical utility of anti-cytosolic 5'-nucleotidase 1A antibody in idiopathic inflammatory myopathies. 61
33556224 2021
8
Clinical characteristics of Vietnamese patients with idiopathic inflammatory myopathies and autoantibodies to aminoacyl-transfer RNA synthetases. 61
33788398 2021
9
EGFR-mutant lung adenocarcinoma associated with antisynthetase syndrome successfully treated with osimertinib. 61
33682361 2021
10
Early predominant inflammatory myopathy in anti-glycyl-tRNA synthetase (EJ) antibody positive antisynthetase syndrome. 61
33768848 2021
11
Possible misclassification of cardiovascular risk by SCORE in antisynthetase syndrome: results of the pilot multicenter study RI.CAR.D.A. 61
32940712 2021
12
A case of antisynthetase syndrome with chilblains-like lesions and microangiopathy. 61
33768864 2021
13
An Unusual Case of Neurosyphilis Manifesting as Syndrome of Inappropriate Antidiuretic Hormone Secretion (SIADH). 61
33589580 2021
14
The relevance of anti-Jo-1 autoantibodies in patients with definite dermatomyositis. 61
33608062 2021
15
Single Nucleotide Polymorphism in the IL17A Gene Is Associated with Interstitial Lung Disease Positive to Anti-Jo1 Antisynthetase Autoantibodies. 61
33672430 2021
16
Undifferentiated recurrent fevers in pediatrics are clinically distinct from PFAPA syndrome but retain an IL-1 signature. 61
33636366 2021
17
Anti-PL-7 antisynthetase syndrome presenting as COVID-19. 61
33547779 2021
18
Anti-PL-7 antibody positive antisynthetase syndrome diagnosed after the onset of pulmonary hypertension and right-sided heart failure. 61
33576389 2021
19
Small cell carcinoma of the cervix complicated by syndrome of inappropriate antidiuretic hormone secretion: a case report. 61
33596689 2021
20
[Skin Manifestations in Dermatomyositis and Antisynthetase Syndrome]. 61
33561828 2021
21
Antisynthetase syndrome - much more than just a myopathy. 61
33360231 2021
22
Antisynthetase syndrome and pulmonary hypertension: report of two cases and review of the literature. 61
32697139 2021
23
A Clinical Case of Polymyositis Complicated by Antisynthetase Syndrome. 61
33614339 2021
24
Efficacy and safety of rituximab in the treatment of connective tissue disease-related interstitial lung disease. 61
33505478 2021
25
Clinicoserological features of antisynthetase syndrome (ASyS)-associated interstitial lung disease presenting to respiratory services: comparison with idiopathic pulmonary fibrosis and ASyS diagnosed in rheumatology services. 61
33419741 2021
26
Even if it looks like COVID-19, think again: the importance of differential diagnosis during a pandemic. 61
33449840 2021
27
Raynaud Phenomenon in Antisynthetase Syndrome Treated With Epoprostenol. 61
31743267 2021
28
Interstitial lung disease in patients with antisynthetase syndrome: a retrospective case series study. 61
32876818 2021
29
Branch Retinal Vein Occlusion as a Rare Presentation of Antisynthetase Syndrome. 61
33654606 2021
30
Successful treatment of severe interstitial pneumonia by removal of circulating autoantibodies: a case series. 61
33407317 2021
31
Psoriasis vulgaris in a patient with antisynthetase syndrome. 61
33099768 2021
32
Nailing the Diagnosis-Antisynthetase Syndrome as a Cause for Pyrexia of Unknown Origin. 61
32502483 2020
33
Tofacitinib in antisynthetase syndrome-related rapidly progressive interstitial lung disease. 61
32754733 2020
34
Genotype-phenotype association by echocardiography offers incremental value in patients with Noonan Syndrome with Multiple Lentigines. 61
33318624 2020
35
[Christmas with Charles Dickens - The Man of Letters as Syndrome-Spotter and Good Moralist]. 61
33327011 2020
36
Prognostic values of anti-Ro52 antibodies in anti-MDA5-positive clinically amyopathic dermatomyositis associated with interstitial lung disease. 61
33331866 2020
37
Up-to-date treatment and management of myositis. 61
32890030 2020
38
Interstitial Lung Disease and Myositis in a Patient With Antisynthetase Syndrome and PL12 and Ro52 Co-positivity in a Retired Medical Officer. 61
33200774 2020
39
[Myositis: From classification to diagnosis]. 61
33248855 2020
40
A case of antisynthetase syndrome with thrombotic thrombocytopenic purpura. 61
33221867 2020
41
Rituximab and Cyclophosphamide in Antisynthetase Syndrome-related Interstitial Lung Disease: An Observational Retrospective Study. 61
32173654 2020
42
Where are we moving in the classification of idiopathic inflammatory myopathies? 61
32852298 2020
43
Machine learning algorithms reveal unique gene expression profiles in muscle biopsies from patients with different types of myositis. 61
32546599 2020
44
Utilization of myositis antibody-specific panel for diagnosis, treatment, and evaluation of disease progression. 61
33235684 2020
45
Accumulation of autophagosome cargo protein p62 is common in idiopathic inflammatory myopathies. 61
32896253 2020
46
Prevalence of Novel Myositis Autoantibodies in a Large Cohort of Patients with Interstitial Lung Disease. 61
32933078 2020
47
Functional Progression in Patients with Interstitial Lung Disease Resulted Positive to Antisynthetase Antibodies: A Multicenter, Retrospective Analysis. 61
32967131 2020
48
A prospective cross-sectional study of serum IL-17A in antisynthetase syndrome. 61
32152919 2020
49
The prevalence of anophthalmic socket syndrome and its relation to patient quality of life. 61
32929179 2020
50
Antisynthetase syndrome complicating the course of established case with rheumatoid arthritis: A rare and under-recognized overlapping disease. 61
30120021 2020

Variations for Antisynthetase Syndrome

ClinVar genetic disease variations for Antisynthetase Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IL1B NM_000576.3(IL1B):c.315C>T (p.Phe105=) SNV association 869137 GRCh37: 2:113590390-113590390
GRCh38: 2:112832813-112832813
2 IL1B NC_000002.12:g.112837290A>G SNV association 869138 GRCh37: 2:113594867-113594867
GRCh38: 2:112837290-112837290
3 IL1B NC_000002.12:g.112838252C>G SNV association 869139 GRCh37: 2:113595829-113595829
GRCh38: 2:112838252-112838252

Expression for Antisynthetase Syndrome

Search GEO for disease gene expression data for Antisynthetase Syndrome.

Pathways for Antisynthetase Syndrome

Pathways related to Antisynthetase Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.99 TRIM33 TARS2 TARS1 KARS1 HARS2 HARS1
2
Show member pathways
11.41 TARS3 TARS2 TARS1 KARS1 HARS2 HARS1

GO Terms for Antisynthetase Syndrome

Cellular components related to Antisynthetase Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.7 TRIM21 TARS3 TARS2 TARS1 KARS1 IL1B
2 aminoacyl-tRNA synthetase multienzyme complex GO:0017101 8.62 KARS1 EPRS1

Biological processes related to Antisynthetase Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 translation GO:0006412 9.7 TARS3 TARS2 TARS1 KARS1 HARS2 HARS1
2 threonyl-tRNA aminoacylation GO:0006435 9.43 TARS3 TARS2 TARS1
3 histidyl-tRNA aminoacylation GO:0006427 9.32 HARS2 HARS1
4 tRNA aminoacylation GO:0043039 9.26 TARS3 TARS2 TARS1 EPRS1
5 tRNA aminoacylation for protein translation GO:0006418 9.17 TARS3 TARS2 TARS1 KARS1 HARS2 HARS1

Molecular functions related to Antisynthetase Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 10.01 TRIM21 TARS1 NCR3 KARS1 IFIH1 HARS2
2 RNA binding GO:0003723 10 TRIM21 TARS1 MORC3 IFIH1 HARS2 EXOSC10
3 ATP binding GO:0005524 9.92 TARS3 TARS2 TARS1 KARS1 IFIH1 HARS2
4 zinc ion binding GO:0008270 9.91 TRIM33 TRIM21 TARS1 MORC3 IFIH1 EPRS1
5 nucleotide binding GO:0000166 9.91 TARS3 TARS2 TARS1 KARS1 IFIH1 HARS2
6 protein homodimerization activity GO:0042803 9.88 TRIM21 TARS2 KARS1 HARS1 EPRS1
7 ligase activity GO:0016874 9.5 TARS3 TARS2 TARS1 KARS1 HARS2 HARS1
8 histidine-tRNA ligase activity GO:0004821 9.37 HARS2 HARS1
9 threonine-tRNA ligase activity GO:0004829 9.33 TARS3 TARS2 TARS1
10 aminoacyl-tRNA ligase activity GO:0004812 9.17 TARS3 TARS2 TARS1 KARS1 HARS2 HARS1

Sources for Antisynthetase Syndrome

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