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 53 59 73
Anti-Jo1 Syndrome 53 59
As Syndrome 53 59

Characteristics:

Orphanet epidemiological data:

59
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 : 53 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 Ganciclovir have been mentioned in the context of this disorder. Affiliated tissues include ovary, myeloid and lung, and related phenotypes are joint dislocation and muscular hypotonia

Wikipedia : 76 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 51)
# Related Disease Score Top Affiliating Genes
1 myositis 30.4 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 albinism, oculocutaneous, type ib 10.4
8 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 10.4
9 rheumatoid arthritis 10.3
10 myopathy 10.2
11 calcinosis 10.2
12 dermatomyositis 10.2
13 acute respiratory distress syndrome 10.2
14 idiopathic inflammatory myopathy 10.2
15 respiratory failure 10.1
16 pulmonary hypertension, primary, 1 10.0
17 pulmonary hypertension 10.0
18 muscle disorders 10.0
19 idiopathic interstitial pneumonia 10.0
20 pneumonia 10.0
21 myocarditis 10.0
22 amyloidosis 10.0
23 polymyositis 10.0
24 spondyloarthropathy 1 9.9
25 kaposi sarcoma 9.9
26 scleroderma, familial progressive 9.9
27 myasthenia gravis 9.9
28 hepatitis 9.9
29 hepatitis b 9.9
30 lymphomatoid granulomatosis 9.9
31 lymphoma 9.9
32 sarcoma 9.9
33 squamous cell carcinoma 9.9
34 ischemia 9.9
35 purpura 9.9
36 arthropathy 9.9
37 folliculitis 9.9
38 aortic valve insufficiency 9.9
39 progressive multifocal leukoencephalopathy 9.9
40 connective tissue disease 9.9
41 spondylitis 9.9
42 influenza 9.9
43 vasculitis 9.9
44 amyloidosis aa 9.9
45 myasthenia gravis congenital 9.9
46 undifferentiated connective tissue disease 9.9
47 charcot-marie-tooth disease 9.7 HARS KARS
48 syndrome of inappropriate antidiuretic hormone 9.4
49 brachydactyly 9.2
50 cauda equina syndrome 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:

59 32 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001373
2 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
3 muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001324
4 dysphagia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002015
5 respiratory insufficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0002093
6 recurrent respiratory infections 59 32 occasional (7.5%) Occasional (29-5%) HP:0002205
7 fever 59 32 frequent (33%) Frequent (79-30%) HP:0001945
8 pulmonary fibrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002206
9 elevated serum creatine phosphokinase 59 32 frequent (33%) Frequent (79-30%) HP:0003236
10 emg abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0003457
11 pulmonary arterial hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0002092
12 neoplasm 59 32 occasional (7.5%) Occasional (29-5%) HP:0002664
13 edema 59 32 frequent (33%) Frequent (79-30%) HP:0000969
14 pruritus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000989
15 lack of skin elasticity 59 32 frequent (33%) Frequent (79-30%) HP:0100679
16 autoimmunity 59 32 hallmark (90%) Very frequent (99-80%) HP:0002960
17 myalgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003326
18 keratoconjunctivitis sicca 59 32 frequent (33%) Frequent (79-30%) HP:0001097
19 telangiectasia of the skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0100585
20 xerostomia 59 32 frequent (33%) Frequent (79-30%) HP:0000217
21 abnormality of the voice 59 32 occasional (7.5%) Occasional (29-5%) HP:0001608
22 chest pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0100749
23 myocarditis 59 32 occasional (7.5%) Occasional (29-5%) HP:0012819
24 skin rash 59 32 occasional (7.5%) Occasional (29-5%) HP:0000988
25 cough 59 32 hallmark (90%) Very frequent (99-80%) HP:0012735
26 myositis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100614
27 aortic regurgitation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001659
28 interstitial pulmonary abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0006530

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

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.44 KARS
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-160 9.44 KARS
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.44 KARS
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-175 9.44 HARS
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.44 KARS
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.44 HARS
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.44 KARS
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.44 HARS
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.44 KARS
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.44 HARS KARS
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.44 HARS
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 9.44 HARS

Drugs & Therapeutics for Antisynthetase Syndrome

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

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Valganciclovir Approved, Investigational Phase 2, Phase 3 175865-60-8 64147
2
Ganciclovir Approved, Investigational Phase 2, Phase 3 82410-32-0 3454
3 Pharmaceutical Solutions Phase 2, Phase 3
4 Ganciclovir triphosphate Phase 2, Phase 3
5 Antiviral Agents Phase 2, Phase 3
6 Anti-Infective Agents Phase 2, Phase 3
7
Abatacept Approved Phase 2 332348-12-6 10237
8 Immunosuppressive Agents Phase 2
9 Antirheumatic Agents Phase 2
10 Immunologic Factors Phase 2
11 Anti-Bacterial Agents
12 Antibodies
13 Immunoglobulins
14 Immunoglobulins, Intravenous
15 gamma-Globulins
16 Rho(D) Immune Globulin

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

Search NIH Clinical Center for Antisynthetase Syndrome

Genetic Tests for Antisynthetase Syndrome

Anatomical Context for Antisynthetase Syndrome

MalaCards organs/tissues related to Antisynthetase Syndrome:

41
Ovary, Myeloid, Lung, Eye, Heart, Testes, Brain

Publications for Antisynthetase Syndrome

Articles related to Antisynthetase Syndrome:

(show top 50) (show all 172)
# Title Authors Year
1
The Voice of Autoimmunity: Antisynthetase Syndrome Manifesting as Vocal Fold Bamboo Nodes. ( 29241348 )
2018
2
Asymmetric Calcinosis in an Adult Patient With Antisynthetase Syndrome. ( 29319552 )
2018
3
EBV-positive PEL-like lymphoma that developed in the course of antisynthetase syndrome treated with tacrolimus. ( 29516290 )
2018
4
Scleroderma-like renal crisis in a patient with anti-threonyl-tRNA synthetase-associated antisynthetase syndrome. ( 29394404 )
2018
5
New Criteria Needed for Antisynthetase Syndrome. ( 29255888 )
2018
6
Sarcoidosis in Patients with Antisynthetase Syndrome: Presentation and Outcome. ( 29961694 )
2018
7
High prevalence of metabolic syndrome in antisynthetase syndrome. ( 29716676 )
2018
8
Successful treatment of antisynthetase syndrome presenting as rhabdomyolysis with rituximab. ( 29644434 )
2018
9
Pulmonary Capillaritis in a Patient With Antisynthetase Syndrome and Anti-PL-7 Antibodies. ( 29742539 )
2018
10
New Criteria Needed for Antisynthetase Syndrome-Reply. ( 29255891 )
2018
11
Consideration of Antisynthetase Syndrome Features in Classifying Patients as Having Idiopathic Inflammatory Myopathy: Comment on the Article by Lundberg et al. ( 29513937 )
2018
12
Anti-PL-7 Antisynthetase Syndrome with Eosinophilic Pleural Effusion. ( 29526945 )
2018
13
The Antinuclear Antibody Test in the Diagnosis of Antisynthetase Syndrome and Other Autoimmune Myopathies. ( 29496922 )
2018
14
Rituximab in the Treatment of Interstitial Lung Disease Associated with Antisynthetase Syndrome: A Multicenter Retrospective Case Review. ( 29606668 )
2018
15
Antisynthetase Syndrome Complicating the Course of Established Case with Rheumatoid Arthritis: A Rare and Under-recognized Overlapping Disease. ( 30120021 )
2018
16
Anti-PL-12 antibody-positive antisynthetase syndrome with recurrent digital ulcers. ( 30230582 )
2018
17
Antisynthetase syndrome pathogenesis: knowledge and uncertainties. ( 30239350 )
2018
18
Antisynthetase syndrome and cardiac involvement: a rare association. ( 30291977 )
2018
19
Interstitial lung disease and inflammatory myopathy in antisynthetase syndrome with PL-12 antibody. ( 30323103 )
2018
20
Pulmonary manifestations in antisynthetase syndrome. ( 30324974 )
2018
21
Idiopathic Inflammatory Myopathy and Antisynthetase Syndrome: Early Diagnosis by 99mTc-HDP Bone Scintigraphy. ( 30325823 )
2018
22
Antisynthetase syndrome: Initial and follow-up imaging features. ( 30381565 )
2018
23
Nailfold Capillaroscopy Characteristics of Antisynthetase Syndrome and Possible Clinical Associations: Results of a Multicenter International Study. ( 30442823 )
2018
24
Effect of Genetic and Laboratory Findings on Clinical Course of Antisynthetase Syndrome in a Hungarian Cohort. ( 30498759 )
2018
25
Acute Respiratory Failure as the First Manifestation of Antisynthetase Syndrome. ( 28638428 )
2017
26
Plantar Kaposi Sarcoma Revealed by Antisynthetase Syndrome. ( 29239932 )
2017
27
Mechanic's hands lesions in antisynthetase syndrome. ( 28158871 )
2017
28
Subcutaneous immunoglobulins for the treatment of a patient with antisynthetase syndrome and secondary chronic immunodeficiency after anti-CD20 treatment: a case report. ( 28257650 )
2017
29
Antisynthetase syndrome: Analysis of 11 cases. ( 28073522 )
2017
30
A Rare Case of Necrotizing Myopathy and Fibrinous and Organizing Pneumonia with Anti-EJ Antisynthetase Syndrome and SSA Antibodies. ( 28439062 )
2017
31
Cutaneous leucocytoclastic vasculitis with anti-EJ autoantibodies: mere coincidence or a manifestation of antisynthetase syndrome? ( 28239883 )
2017
32
Eruptive melanocytic nevi during azathioprine therapy for antisynthetase syndrome. ( 28492593 )
2017
33
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
34
Acute digital ischemia: A rare presentation of antisynthetase syndrome. ( 28293456 )
2017
35
Antisynthetase syndrome or what else? Different perspectives indicate the need for new classification criteria. ( 28970214 )
2017
36
Antisynthetase syndrome. ( 29196375 )
2017
37
Response to: 'Antisynthetase syndrome or what else? Different perspectives indicate the need for new classification criteria' by Cavagna<i>et al</i>. ( 29259048 )
2017
38
Antisynthetase syndrome and influenza B, characteristic pulmonary involvement. ( 28063779 )
2017
39
Unsuspected lymphomatoid granulomatosis in a patient with antisynthetase syndrome. ( 29136066 )
2017
40
Squamous cell carcinoma of the lung associated with anti-Jo1 antisynthetase syndrome: a case report and review of the literature. ( 28447208 )
2017
41
Skeletal Muscle Involvement in Antisynthetase Syndrome. ( 28586844 )
2017
42
Antisynthetase syndrome. Multidisciplinary evaluation and comittment. ( 28073518 )
2017
43
Mechanic's hands and hiker's feet in antisynthetase syndrome. ( 29109211 )
2017
44
Syndrome in question: antisynthetase syndrome (anti-PL-7). ( 27828653 )
2016
45
Clinical features and outcomes of interstitial lung disease in anti-Jo-1 positive antisynthetase syndrome. ( 27578469 )
2016
46
Acute Respiratory Distress Syndrome as the Initial Clinical Manifestation of an Antisynthetase Syndrome. ( 27433180 )
2016
47
Inflammatory myopathies: NK cell function linked to antisynthetase syndrome. ( 27558658 )
2016
48
Rituximab in the Treatment of Jo1 Antibody-associated Antisynthetase Syndrome: Anti-Ro52 Positivity as a Marker for Severity and Treatment Response. ( 27252419 )
2016
49
Characteristics of antisynthetase syndrome patients with hyperferritinaemia. ( 27308737 )
2016
50
Antisynthetase syndrome after acute massive inhalation of wood and paint dust. ( 26948811 )
2016

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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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