MCID: ANT039
MIFTS: 48

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 54 60 17 74
Anti-Jo1 Syndrome 54 60
As Syndrome 54 60

Characteristics:

Orphanet epidemiological data:

60
antisynthetase syndrome
Inheritance: Not applicable; Prevalence: 1-9/100000 (Worldwide); Age of onset: Adult,Elderly; Age of death: adult,elderly,young Adult;

Classifications:



Summaries for Antisynthetase Syndrome

NIH Rare Diseases : 54 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 myositis and interstitial lung disease. An important gene associated with Antisynthetase Syndrome is HARS (Histidyl-TRNA Synthetase), and among its related pathways/superpathways is tRNA Aminoacylation. The drugs Valganciclovir and Methylprednisolone hemisuccinate have been mentioned in the context of this disorder. Affiliated tissues include lung, skin and bone, and related phenotypes are muscle weakness and respiratory insufficiency

Wikipedia : 77 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 55)
# Related Disease Score Top Affiliating Genes
1 myositis 30.3 HARS TARS
2 interstitial lung disease 10.6
3 lung disease 10.6
4 trichohepatoenteric syndrome 1 10.5
5 arthritis 10.4
6 pierre robin syndrome 10.4
7 microphthalmia, syndromic 1 10.4
8 albinism, oculocutaneous, type ib 10.4
9 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 10.4
10 rheumatoid arthritis 10.3
11 myopathy 10.3
12 calcinosis 10.2
13 idiopathic inflammatory myopathy 10.2
14 dermatomyositis 10.2
15 respiratory failure 10.2
16 acute respiratory distress syndrome 10.2
17 polymyositis 10.1
18 pulmonary hypertension, primary, 1 10.0
19 pulmonary hypertension 10.0
20 muscle disorders 10.0
21 idiopathic interstitial pneumonia 10.0
22 pneumonia 10.0
23 myocarditis 10.0
24 influenza 10.0
25 amyloidosis 10.0
26 spondyloarthropathy 1 9.9
27 kaposi sarcoma 9.9
28 scleroderma, familial progressive 9.9
29 myasthenia gravis 9.9
30 hepatitis 9.9
31 hepatitis b 9.9
32 lymphomatoid granulomatosis 9.9
33 lymphoma 9.9
34 sarcoma 9.9
35 panniculitis 9.9
36 squamous cell carcinoma 9.9
37 ischemia 9.9
38 purpura 9.9
39 arthropathy 9.9
40 folliculitis 9.9
41 progressive multifocal leukoencephalopathy 9.9
42 connective tissue disease 9.9
43 spondylitis 9.9
44 vasculitis 9.9
45 amyloidosis aa 9.9
46 myasthenia gravis congenital 9.9
47 undifferentiated connective tissue disease 9.9
48 charcot-marie-tooth disease 9.5 HARS KARS
49 syndrome of inappropriate antidiuretic hormone 9.4
50 hypertension, essential 9.2

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:

60 33 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001324
2 respiratory insufficiency 60 33 hallmark (90%) Very frequent (99-80%) HP:0002093
3 pulmonary fibrosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002206
4 autoimmunity 60 33 hallmark (90%) Very frequent (99-80%) HP:0002960
5 myalgia 60 33 hallmark (90%) Very frequent (99-80%) HP:0003326
6 chest pain 60 33 hallmark (90%) Very frequent (99-80%) HP:0100749
7 cough 60 33 hallmark (90%) Very frequent (99-80%) HP:0012735
8 myositis 60 33 hallmark (90%) Very frequent (99-80%) HP:0100614
9 interstitial pulmonary abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0006530
10 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001252
11 fever 60 33 frequent (33%) Frequent (79-30%) HP:0001945
12 emg abnormality 60 33 frequent (33%) Frequent (79-30%) HP:0003457
13 edema 60 33 frequent (33%) Frequent (79-30%) HP:0000969
14 lack of skin elasticity 60 33 frequent (33%) Frequent (79-30%) HP:0100679
15 keratoconjunctivitis sicca 60 33 frequent (33%) Frequent (79-30%) HP:0001097
16 xerostomia 60 33 frequent (33%) Frequent (79-30%) HP:0000217
17 elevated serum creatine kinase 33 frequent (33%) HP:0003236
18 joint dislocation 60 33 occasional (7.5%) Occasional (29-5%) HP:0001373
19 dysphagia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002015
20 recurrent respiratory infections 60 33 occasional (7.5%) Occasional (29-5%) HP:0002205
21 pulmonary arterial hypertension 60 33 occasional (7.5%) Occasional (29-5%) HP:0002092
22 neoplasm 60 33 occasional (7.5%) Occasional (29-5%) HP:0002664
23 pruritus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000989
24 telangiectasia of the skin 60 33 occasional (7.5%) Occasional (29-5%) HP:0100585
25 abnormality of the voice 60 33 occasional (7.5%) Occasional (29-5%) HP:0001608
26 myocarditis 60 33 occasional (7.5%) Occasional (29-5%) HP:0012819
27 skin rash 60 33 occasional (7.5%) Occasional (29-5%) HP:0000988
28 aortic regurgitation 60 33 occasional (7.5%) Occasional (29-5%) HP:0001659
29 elevated serum creatine phosphokinase 60 Frequent (79-30%)

GenomeRNAi Phenotypes related to Antisynthetase Syndrome according to GeneCards Suite gene sharing:

27 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-160 9.4 KARS
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.4 KARS
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-175 9.4 HARS
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.4 KARS
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.4 HARS
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.4 KARS
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.4 HARS
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.4 KARS
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.4 HARS KARS
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.4 HARS
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 9.4 HARS

Drugs & Therapeutics for Antisynthetase Syndrome

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

(show all 45)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Valganciclovir Approved, Investigational Phase 2, Phase 3 175865-60-8 64147
2
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
3
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
4
Cyclophosphamide Approved, Investigational Phase 3 6055-19-2, 50-18-0 2907
5
Azathioprine Approved Phase 3 446-86-6 2265
6
Tacrolimus Approved, Investigational Phase 3 104987-11-3 445643 439492 6473866
7
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
8
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
9
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
10
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
11 Antiviral Agents Phase 2, Phase 3
12 Anti-Infective Agents Phase 2, Phase 3
13 Pharmaceutical Solutions Phase 2, Phase 3
14 Antirheumatic Agents Phase 3,Phase 2
15 Immunologic Factors Phase 3,Phase 2
16 Immunosuppressive Agents Phase 3,Phase 2
17 Protective Agents Phase 3
18 Calcineurin Inhibitors Phase 3
19 glucocorticoids Phase 3
20 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
21 Gastrointestinal Agents Phase 3
22 Neuroprotective Agents Phase 3
23 Antimetabolites, Antineoplastic Phase 3
24 Hormone Antagonists Phase 3
25 Alkylating Agents Phase 3
26 Antiemetics Phase 3
27 Methylprednisolone Acetate Phase 3
28 Autonomic Agents Phase 3
29 Antimetabolites Phase 3
30 Hormones Phase 3
31 Anti-Inflammatory Agents Phase 3
32 Antineoplastic Agents, Alkylating Phase 3
33 Peripheral Nervous System Agents Phase 3
34 Prednisolone acetate Phase 3
35
Abatacept Approved Phase 2 332348-12-6 10237
36
Lidocaine Approved, Vet_approved 137-58-6 3676
37
Midazolam Approved, Illicit 59467-70-8 4192
38 Anti-Bacterial Agents
39 Immunoglobulins
40 Antibodies
41 Rho(D) Immune Globulin
42 gamma-Globulins
43 Immunoglobulins, Intravenous
44 Calamus
45 Anesthetics

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Study of Valcyte (Valganciclovir) Syrup Formulation in Pediatric Solid Organ Transplant Recipients Completed NCT00090766 Phase 2, Phase 3 valganciclovir [Valcyte]
2 Cyclophosphamide and Azathioprine vs Tacrolimus in Antisynthetase Syndrome-related Interstitial Lung Disease Not yet recruiting NCT03770663 Phase 3 Cyclophosphamide and azathioprine;Tacrolimus
3 Abatacept for the Treatment of Myositis-associated Interstitial Lung Disease Recruiting NCT03215927 Phase 2 Abatacept
4 Stevens-Johnson Syndrome Antimicrobial Completed NCT00844038
5 Environmental Risk Factors for the Anti-synthetase Syndrome Recruiting NCT01276470
6 MYOPROSP - a Prospective Cohort Study in Myositis Recruiting NCT02468895
7 Optimizing Treatment on Idiopathic Inflammatory Myopathies Recruiting NCT03092180 Intravenous Infusion
8 Clinical Characteristics of Interstitial Pneumonia With Autoimmune Features (IPAF) - a Multicenter Prospective Study Not yet recruiting NCT03870828

Search NIH Clinical Center for Antisynthetase Syndrome

Genetic Tests for Antisynthetase Syndrome

Anatomical Context for Antisynthetase Syndrome

MalaCards organs/tissues related to Antisynthetase Syndrome:

42
Lung, Skin, Bone, Testes, Skeletal Muscle, Nk Cells

Publications for Antisynthetase Syndrome

Articles related to Antisynthetase Syndrome:

(show top 50) (show all 184)
# Title Authors Year
1
Mechanics hands in patients with antisynthetase syndrome: 25 cases. ( 30595338 )
2019
2
Polymyositis with antisynthetase syndrome presented with lobular panniculitis: A case report. ( 30656025 )
2019
3
Diagnostic approach and novel therapeutic option for cardiac inflammatory disorders. Comment on "Antisynthetase syndrome and cardiac involvement: a rare association" by Meudec et al. Joint Bone Spine 2018. doi: 10.1016/j.jbspin.2018.09.019. ( 30738848 )
2019
4
Successful treatment of refractory mechanic's hands with ustekinumab in a patient with the antisynthetase syndrome. ( 30793759 )
2019
5
Antisynthetase Syndrome Induced by Influenza Vaccine: A Unique Case of ASIA Syndrome. ( 30801329 )
2019
6
Bilateral Limbal Follicles in Antisynthetase Syndrome. ( 30803512 )
2019
7
Sonographic findings from inflammatory arthritis due to antisynthetase syndrome. ( 30810913 )
2019
8
Immune checkpoint inhibitor use in antisynthetase syndrome. ( 30815986 )
2019
9
Clinical characteristics and outcome in patients with antisynthetase syndrome associated interstitial lung disease: a retrospective cohort study. ( 30834073 )
2019
10
Acute hypoxic respiratory failure secondary to antisynthetase syndrome: A case report and review of literature. ( 30859061 )
2019
11
Idiopathic inflammatory myopathies and antisynthetase syndrome: contribution of antisynthetase antibodies to improve current classification criteria. ( 30910990 )
2019
12
The Voice of Autoimmunity: Antisynthetase Syndrome Manifesting as Vocal Fold Bamboo Nodes. ( 29241348 )
2018
13
Asymmetric Calcinosis in an Adult Patient With Antisynthetase Syndrome. ( 29319552 )
2018
14
EBV-positive PEL-like lymphoma that developed in the course of antisynthetase syndrome treated with tacrolimus. ( 29516290 )
2018
15
Scleroderma-like renal crisis in a patient with anti-threonyl-tRNA synthetase-associated antisynthetase syndrome. ( 29394404 )
2018
16
New Criteria Needed for Antisynthetase Syndrome. ( 29255888 )
2018
17
Sarcoidosis in Patients with Antisynthetase Syndrome: Presentation and Outcome. ( 29961694 )
2018
18
High prevalence of metabolic syndrome in antisynthetase syndrome. ( 29716676 )
2018
19
Successful treatment of antisynthetase syndrome presenting as rhabdomyolysis with rituximab. ( 29644434 )
2018
20
Pulmonary Capillaritis in a Patient With Antisynthetase Syndrome and Anti-PL-7 Antibodies. ( 29742539 )
2018
21
New Criteria Needed for Antisynthetase Syndrome-Reply. ( 29255891 )
2018
22
Consideration of Antisynthetase Syndrome Features in Classifying Patients as Having Idiopathic Inflammatory Myopathy: Comment on the Article by Lundberg et al. ( 29513937 )
2018
23
Anti-PL-7 Antisynthetase Syndrome with Eosinophilic Pleural Effusion. ( 29526945 )
2018
24
The Antinuclear Antibody Test in the Diagnosis of Antisynthetase Syndrome and Other Autoimmune Myopathies. ( 29496922 )
2018
25
Rituximab in the Treatment of Interstitial Lung Disease Associated with Antisynthetase Syndrome: A Multicenter Retrospective Case Review. ( 29606668 )
2018
26
Antisynthetase syndrome pathogenesis: knowledge and uncertainties. ( 30239350 )
2018
27
Antisynthetase syndrome and cardiac involvement: a rare association. ( 30291977 )
2018
28
Interstitial lung disease and inflammatory myopathy in antisynthetase syndrome with PL-12 antibody. ( 30323103 )
2018
29
Pulmonary manifestations in antisynthetase syndrome. ( 30324974 )
2018
30
Idiopathic Inflammatory Myopathy and Antisynthetase Syndrome: Early Diagnosis by 99mTc-HDP Bone Scintigraphy. ( 30325823 )
2018
31
Antisynthetase syndrome: Initial and follow-up imaging features. ( 30381565 )
2018
32
Nailfold Capillaroscopy Characteristics of Antisynthetase Syndrome and Possible Clinical Associations: Results of a Multicenter International Study. ( 30442823 )
2018
33
Effect of Genetic and Laboratory Findings on Clinical Course of Antisynthetase Syndrome in a Hungarian Cohort. ( 30498759 )
2018
34
Nailfold videocapillaroscopy in antisynthetase syndrome. ( 30570244 )
2018
35
Antisynthetase Syndrome Complicating the Course of Established Case with Rheumatoid Arthritis: A Rare and Under-recognized Overlapping Disease. ( 30120021 )
2018
36
Anti-PL-12 antibody-positive antisynthetase syndrome with recurrent digital ulcers. ( 30230582 )
2018
37
Acute Respiratory Failure as the First Manifestation of Antisynthetase Syndrome. ( 28638428 )
2017
38
Plantar Kaposi Sarcoma Revealed by Antisynthetase Syndrome. ( 29239932 )
2017
39
Mechanic's hands lesions in antisynthetase syndrome. ( 28158871 )
2017
40
Subcutaneous immunoglobulins for the treatment of a patient with antisynthetase syndrome and secondary chronic immunodeficiency after anti-CD20 treatment: a case report. ( 28257650 )
2017
41
Antisynthetase syndrome: Analysis of 11 cases. ( 28073522 )
2017
42
A Rare Case of Necrotizing Myopathy and Fibrinous and Organizing Pneumonia with Anti-EJ Antisynthetase Syndrome and SSA Antibodies. ( 28439062 )
2017
43
Cutaneous leucocytoclastic vasculitis with anti-EJ autoantibodies: mere coincidence or a manifestation of antisynthetase syndrome? ( 28239883 )
2017
44
Eruptive melanocytic nevi during azathioprine therapy for antisynthetase syndrome. ( 28492593 )
2017
45
A 64-year-old woman with interstitial lung disease and positive antibodies against aminoacyl-transfer RNA synthetases in the absence of myositis: presentation of an anti-PL-12 positive antisynthetase syndrome. ( 29173135 )
2017
46
Acute digital ischemia: A rare presentation of antisynthetase syndrome. ( 28293456 )
2017
47
Antisynthetase syndrome or what else? Different perspectives indicate the need for new classification criteria. ( 28970214 )
2017
48
Antisynthetase syndrome. ( 29196375 )
2017
49
Response to: 'Antisynthetase syndrome or what else? Different perspectives indicate the need for new classification criteria' by Cavagna<i>et al</i>. ( 29259048 )
2017
50
Antisynthetase syndrome and influenza B, characteristic pulmonary involvement. ( 28063779 )
2017

Variations for Antisynthetase Syndrome

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
11.04 HARS KARS TARS

GO Terms for Antisynthetase Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 translation GO:0006412 9.13 HARS KARS TARS
2 tRNA aminoacylation for protein translation GO:0006418 8.8 HARS KARS TARS

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

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.5 HARS KARS TARS
2 identical protein binding GO:0042802 9.43 HARS KARS NCR3
3 nucleotide binding GO:0000166 9.37 KARS TARS
4 tRNA binding GO:0000049 9.16 KARS TARS
5 ligase activity GO:0016874 9.13 HARS KARS TARS
6 aminoacyl-tRNA ligase activity GO:0004812 8.8 HARS KARS TARS

Sources for Antisynthetase Syndrome

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
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75 UMLS via Orphanet
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