MCID: ANT039
MIFTS: 42

Antisynthetase Syndrome

Categories: Rare diseases, Neuronal diseases, Bone diseases

Aliases & Classifications for Antisynthetase Syndrome

Summaries for Antisynthetase Syndrome

NIH Rare Diseases : 50 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. last updated: 3/10/2017

MalaCards based summary : Antisynthetase Syndrome, also known as anti-jo1 syndrome, is related to interstitial lung disease and lung disease, and has symptoms including xerostomia, edema and skin rash. An important gene associated with Antisynthetase Syndrome is HARS (Histidyl-TRNA Synthetase), and among its related pathways/superpathways is tRNA Aminoacylation. The drugs Abatacept and Antirheumatic Agents have been mentioned in the context of this disorder. Affiliated tissues include lung, skin and bone, and related phenotype is Decreased shRNA abundance (Z-score < -2).

Wikipedia : 72 Anti-synthetase syndrome is a 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 all 45)
id Related Disease Score Top Affiliating Genes
1 interstitial lung disease 10.3
2 lung disease 10.3
3 trichohepatoenteric syndrome 1 10.3
4 myositis 10.2
5 arthritis 10.1
6 albinism, oculocutaneous, type ib 10.1
7 pierre robin syndrome 10.1
8 rheumatoid arthritis 10.1
9 myopathy 10.0
10 dermatomyositis 9.9
11 calcinosis 9.9
12 acute respiratory distress syndrome 9.9
13 respiratory failure 9.9
14 pneumonia 9.9
15 childhood-onset cerebral x-linked adrenoleukodystrophy 9.8 HARS KARS
16 pulmonary hypertension 9.8
17 idiopathic interstitial pneumonia 9.8
18 myocarditis 9.8
19 amyloidosis 9.8
20 idiopathic inflammatory myopathy 9.8
21 polymyositis 9.8
22 polysyndactyly trigonocephaly agenesis of corpus callosum 9.7 HARS KARS
23 hepatitis 9.6
24 hepatitis b 9.6
25 myasthenia gravis 9.6
26 squamous cell carcinoma 9.6
27 ischemia 9.6
28 purpura 9.6
29 arthropathy 9.6
30 folliculitis 9.6
31 progressive multifocal leukoencephalopathy 9.6
32 connective tissue disease 9.6
33 spondylitis 9.6
34 influenza 9.6
35 vasculitis 9.6
36 undifferentiated connective tissue disease 9.6
37 adult intracranial malignant hemangiopericytoma 9.4 HARS TARS
38 histoplasmosis pericarditis 9.2 HARS KARS TARS
39 brachydactyly 9.1
40 cauda equina syndrome 9.1
41 biliary atresia 9.1
42 prostatitis 9.1
43 duodenitis 9.1
44 syndrome of inappropriate antidiuretic hormone 9.1
45 aortic arch anomaly - peculiar facies - intellectual disability 8.4 HARS KARS NCR3 TARS

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:

56 32 (show all 31)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 xerostomia 56 32 frequent (33%) Frequent (79-30%) HP:0000217
2 edema 56 32 frequent (33%) Frequent (79-30%) HP:0000969
3 skin rash 56 32 occasional (7.5%) Occasional (29-5%) HP:0000988
4 pruritus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000989
5 keratoconjunctivitis sicca 56 32 frequent (33%) Frequent (79-30%) HP:0001097
6 muscular hypotonia 56 32 frequent (33%) Frequent (79-30%) HP:0001252
7 muscle weakness 56 32 hallmark (90%) Very frequent (99-80%) HP:0001324
8 joint dislocation 56 32 occasional (7.5%) Occasional (29-5%) HP:0001373
9 abnormality of the voice 56 32 occasional (7.5%) Occasional (29-5%) HP:0001608
10 aortic regurgitation 56 32 occasional (7.5%) Occasional (29-5%) HP:0001659
11 fever 56 32 frequent (33%) Frequent (79-30%) HP:0001945
12 dysphagia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002015
13 respiratory insufficiency 56 32 hallmark (90%) Very frequent (99-80%) HP:0002093
14 recurrent respiratory infections 56 32 occasional (7.5%) Occasional (29-5%) HP:0002205
15 pulmonary fibrosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0002206
16 neoplasm 56 32 occasional (7.5%) Occasional (29-5%) HP:0002664
17 autoimmunity 56 32 hallmark (90%) Very frequent (99-80%) HP:0002960
18 elevated serum creatine phosphokinase 56 32 frequent (33%) Frequent (79-30%) HP:0003236
19 myalgia 56 32 hallmark (90%) Very frequent (99-80%) HP:0003326
20 emg abnormality 56 32 frequent (33%) Frequent (79-30%) HP:0003457
21 cough 56 32 hallmark (90%) Very frequent (99-80%) HP:0012735
22 myocarditis 56 32 occasional (7.5%) Occasional (29-5%) HP:0012819
23 myositis 56 32 hallmark (90%) Very frequent (99-80%) HP:0100614
24 lack of skin elasticity 56 32 frequent (33%) Frequent (79-30%) HP:0100679
25 chest pain 56 32 hallmark (90%) Very frequent (99-80%) HP:0100749
26 pulmonary hypertension 56 Occasional (29-5%)
27 interstitial pulmonary disease 56 Very frequent (99-80%)
28 teleangiectasia of the skin 56 Occasional (29-5%)
29 pulmonary arterial hypertension 32 occasional (7.5%) HP:0002092
30 interstitial pulmonary abnormality 32 hallmark (90%) HP:0006530
31 telangiectasia of the skin 32 occasional (7.5%) HP:0100585

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

26
id 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 KARS HARS
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 10)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Abatacept Approved Phase 2 332348-12-6 10237
2 Antirheumatic Agents Phase 2
3 Immunosuppressive Agents Phase 2
4 Anti-Bacterial Agents
5 Anti-Infective Agents
6 Antibodies
7 Immunoglobulins
8 gamma-Globulins
9 Immunoglobulins, Intravenous
10 Rho(D) Immune Globulin

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Abatacept for the Treatment of Myositis-associated Interstitial Lung Disease Recruiting NCT03215927 Phase 2 Abatacept
2 Stevens-Johnson Syndrome Antimicrobial Completed NCT00844038
3 Environmental Risk Factors for the Anti-synthetase Syndrome Recruiting NCT01276470
4 MYOPROSP - a Prospective Cohort Study in Myositis Recruiting NCT02468895
5 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:

39
Lung, Skin, Bone, Nk Cells, Skeletal Muscle, Testes

Publications for Antisynthetase Syndrome

Articles related to Antisynthetase Syndrome:

(show top 50) (show all 140)
id Title Authors Year
1
Eruptive melanocytic nevi during azathioprine therapy for antisynthetase syndrome. ( 28492593 )
2017
2
Acute Respiratory Failure as the First Manifestation of Antisynthetase Syndrome. ( 28638428 )
2017
3
Squamous cell carcinoma of the lung associated with anti-Jo1 antisynthetase syndrome: a case report and review of the literature. ( 28447208 )
2017
4
Antisynthetase syndrome: Analysis of 11 cases. ( 28073522 )
2017
5
Antisynthetase syndrome. Multidisciplinary evaluation and comittment. ( 28073518 )
2017
6
Antisynthetase syndrome and influenza B, characteristic pulmonary involvement. ( 28063779 )
2017
7
Skeletal Muscle Involvement in Antisynthetase Syndrome. ( 28586844 )
2017
8
Subcutaneous immunoglobulins for the treatment of a patient with antisynthetase syndrome and secondary chronic immunodeficiency after anti-CD20 treatment: a case report. ( 28257650 )
2017
9
Acute digital ischemia: A rare presentation of antisynthetase syndrome. ( 28293456 )
2017
10
Mechanic's hands lesions in antisynthetase syndrome. ( 28158871 )
2017
11
A Rare Case of Necrotizing Myopathy and Fibrinous and Organizing Pneumonia with Anti-EJ Antisynthetase Syndrome and SSA Antibodies. ( 28439062 )
2017
12
Cutaneous leucocytoclastic vasculitis with anti-EJ autoantibodies: mere coincidence or a manifestation of antisynthetase syndrome? ( 28239883 )
2017
13
Rheumatoid arthritis and antisynthetase syndrome. A three cases report. ( 26968110 )
2016
14
Syndrome in question: antisynthetase syndrome (anti-PL-7). ( 27828653 )
2016
15
A Curious Case of Acute Respiratory Failure: Is It Antisynthetase Syndrome? ( 27433359 )
2016
16
Pulmonary Involvement in the Antisynthetase Syndrome: A Comparative Cross-sectional Study. ( 27036381 )
2016
17
The Diagnosis and Treatment of Antisynthetase Syndrome. ( 27594777 )
2016
18
Regression of microangiopathy in antisynthetase syndrome. ( 27940598 )
2016
19
Antisynthetase syndrome: Pulmonary computed tomography findings of adult patients with antibodies to aminoacyl-tRNA synthetases. ( 27423682 )
2016
20
Antisynthetase Syndrome: A Rare Cause for ILD. ( 27134916 )
2016
21
Clinical features and outcomes of interstitial lung disease in anti-Jo-1 positive antisynthetase syndrome. ( 27578469 )
2016
22
Pseudo-perifascicular atrophy in the healing phase of Jo-1 antisynthetase syndrome. ( 27321928 )
2016
23
New Insights into Antisynthetase Syndrome. ( 28461832 )
2016
24
Rituximab in the Treatment of Jo1 Antibody-associated Antisynthetase Syndrome: Anti-Ro52 Positivity as a Marker for Severity and Treatment Response. ( 27252419 )
2016
25
A Negative Antinuclear Antibody Does Not Indicate Autoantibody Negativity in Myositis: Role of Anticytoplasmic Antibody as a Screening Test for Antisynthetase Syndrome. ( 27909085 )
2016
26
A Multidisciplinary Evaluation Helps Identify the Antisynthetase Syndrome in Patients Presenting as Idiopathic Interstitial Pneumonia. ( 26932342 )
2016
27
Acute Respiratory Distress Syndrome as the Initial Clinical Manifestation of an Antisynthetase Syndrome. ( 27433180 )
2016
28
A case of antisynthetase syndrome with elevated serum CA19-9 associated with interstitial lung disease. ( 27777184 )
2016
29
(18)F-FDG PET/CT in diagnosis and response evaluation in an unusual case of antisynthetase syndrome presenting as pyrexia of unknown origin. ( 26687469 )
2016
30
Involvement of NK Cells and NKp30 Pathway in Antisynthetase Syndrome. ( 27511738 )
2016
31
Antisynthetase syndrome: An under-recognized cause of interstitial lung disease. ( 26933302 )
2016
32
Global Myocardial Edema in Antisynthetase Syndrome Detected by Cardiovascular Magnetic Resonance Mapping Techniques. ( 26783280 )
2016
33
Inflammatory myopathies: NK cell function linked to antisynthetase syndrome. ( 27558658 )
2016
34
Antisynthetase syndrome (ASS) presenting as acute respiratory distress syndrome (ARDS) in a patient without myositis features. ( 27941112 )
2016
35
Serum Jo-1 Autoantibody and Isolated Arthritis in the Antisynthetase Syndrome: Review of the Literature and Report of the Experience of AENEAS Collaborative Group. ( 26782036 )
2016
36
Antisynthetase syndrome: a case report. ( 27190773 )
2016
37
Antisynthetase syndrome after acute massive inhalation of wood and paint dust. ( 26948811 )
2016
38
Characteristics of antisynthetase syndrome patients with hyperferritinaemia. ( 27308737 )
2016
39
Antisynthetase syndrome: a review of etiopathogenesis, diagnosis and management. ( 25973980 )
2015
40
A case of perforating folliculitis in association with antisynthetase syndrome. ( 26016976 )
2015
41
Antisynthetase syndrome treated with tocilizumab. ( 26471411 )
2015
42
In antisynthetase syndrome, ACPA are associated with severe and erosive arthritis: an overlapping rheumatoid arthritis and antisynthetase syndrome. ( 25997035 )
2015
43
Successful Treatment of Life-Threatening Interstitial Lung Disease Secondary to Antisynthetase Syndrome Using Rituximab: A Case Report and Review of the Literature. ( 25830868 )
2015
44
Mechanic's hands in a woman with undifferentiated connective tissue disease and interstitial lung disease - anti-PL7 positive antisynthetase syndrome: a case report. ( 25888844 )
2015
45
Myocarditis in Patients With Antisynthetase Syndrome: Prevalence, Presentation, and Outcomes. ( 26131832 )
2015
46
Calcinosis in hands and antisynthetase syndrome without muscle involvement. ( 26166693 )
2015
47
Clinical Spectrum Time Course in Anti Jo-1 Positive Antisynthetase Syndrome: Results From an International Retrospective Multicenter Study. ( 26266346 )
2015
48
Interstitial lung disease as first clinical manifestation within the antisynthetase syndrome--dermatomyositis. ( 26506673 )
2015
49
Atypical progressive multifocal leukoencephalopathy in a patient with antisynthetase syndrome. ( 25758081 )
2015
50
A 43-year-old man with antisynthetase syndrome presenting with acute worsening of dyspnea. ( 26033135 )
2015

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:

id 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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.5 HARS KARS TARS
2 protein homodimerization activity GO:0042803 9.26 NCR3 TARS
3 ligase activity GO:0016874 9.13 HARS KARS TARS
4 tRNA binding GO:0000049 8.85 KARS
5 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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