MCID: ANT039
MIFTS: 46

Antisynthetase Syndrome

Categories: Rare diseases, Neuronal diseases, Bone 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 Ganciclovir and Valganciclovir have been mentioned in the context of this disorder. Affiliated tissues include lung, skin and bone, and related phenotypes are xerostomia and edema

Wikipedia : 76 Anti-synthetase syndrome is an autoimmune disease associated with interstitial lung disease,... more...

Related Diseases for Antisynthetase Syndrome

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

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

26 (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 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ganciclovir Approved, Investigational Phase 2, Phase 3 82410-32-0 3454
2
Valganciclovir Approved, Investigational Phase 2, Phase 3 175865-60-8 64147
3 Ganciclovir triphosphate Phase 2, Phase 3
4 Pharmaceutical Solutions Phase 2, Phase 3
5 Anti-Infective Agents Phase 2, Phase 3
6 Antiviral 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 Anti-Bacterial Agents
11 Rho(D) Immune Globulin
12 gamma-Globulins
13 Antibodies
14 Immunoglobulins
15 Immunoglobulins, Intravenous

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 Abatacept for the Treatment of Myositis-associated Interstitial Lung Disease Recruiting NCT03215927 Phase 2 Abatacept
3 Stevens-Johnson Syndrome Antimicrobial Completed NCT00844038
4 Environmental Risk Factors for the Anti-synthetase Syndrome Recruiting NCT01276470
5 MYOPROSP - a Prospective Cohort Study in Myositis Recruiting NCT02468895
6 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
Lung, Skin, Bone, Nk Cells, Skeletal Muscle, Testes

Publications for Antisynthetase Syndrome

Articles related to Antisynthetase Syndrome:

(show top 50) (show all 161)
# 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
Acute Respiratory Failure as the First Manifestation of Antisynthetase Syndrome. ( 28638428 )
2017
16
Plantar Kaposi Sarcoma Revealed by Antisynthetase Syndrome. ( 29239932 )
2017
17
Mechanic's hands lesions in antisynthetase syndrome. ( 28158871 )
2017
18
Subcutaneous immunoglobulins for the treatment of a patient with antisynthetase syndrome and secondary chronic immunodeficiency after anti-CD20 treatment: a case report. ( 28257650 )
2017
19
Antisynthetase syndrome: Analysis of 11 cases. ( 28073522 )
2017
20
A Rare Case of Necrotizing Myopathy and Fibrinous and Organizing Pneumonia with Anti-EJ Antisynthetase Syndrome and SSA Antibodies. ( 28439062 )
2017
21
Cutaneous leucocytoclastic vasculitis with anti-EJ autoantibodies: mere coincidence or a manifestation of antisynthetase syndrome? ( 28239883 )
2017
22
Eruptive melanocytic nevi during azathioprine therapy for antisynthetase syndrome. ( 28492593 )
2017
23
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
24
Acute digital ischemia: A rare presentation of antisynthetase syndrome. ( 28293456 )
2017
25
Antisynthetase syndrome or what else? Different perspectives indicate the need for new classification criteria. ( 28970214 )
2017
26
Antisynthetase syndrome. ( 29196375 )
2017
27
Response to: 'Antisynthetase syndrome or what else? Different perspectives indicate the need for new classification criteria' by Cavagna<i>et al</i>. ( 29259048 )
2017
28
Antisynthetase syndrome and influenza B, characteristic pulmonary involvement. ( 28063779 )
2017
29
Unsuspected lymphomatoid granulomatosis in a patient with antisynthetase syndrome. ( 29136066 )
2017
30
Squamous cell carcinoma of the lung associated with anti-Jo1 antisynthetase syndrome: a case report and review of the literature. ( 28447208 )
2017
31
Skeletal Muscle Involvement in Antisynthetase Syndrome. ( 28586844 )
2017
32
Antisynthetase syndrome. Multidisciplinary evaluation and comittment. ( 28073518 )
2017
33
Mechanic's hands and hiker's feet in antisynthetase syndrome. ( 29109211 )
2017
34
Syndrome in question: antisynthetase syndrome (anti-PL-7). ( 27828653 )
2016
35
Clinical features and outcomes of interstitial lung disease in anti-Jo-1 positive antisynthetase syndrome. ( 27578469 )
2016
36
Acute Respiratory Distress Syndrome as the Initial Clinical Manifestation of an Antisynthetase Syndrome. ( 27433180 )
2016
37
Inflammatory myopathies: NK cell function linked to antisynthetase syndrome. ( 27558658 )
2016
38
Rituximab in the Treatment of Jo1 Antibody-associated Antisynthetase Syndrome: Anti-Ro52 Positivity as a Marker for Severity and Treatment Response. ( 27252419 )
2016
39
Characteristics of antisynthetase syndrome patients with hyperferritinaemia. ( 27308737 )
2016
40
Antisynthetase syndrome after acute massive inhalation of wood and paint dust. ( 26948811 )
2016
41
Antisynthetase syndrome: a case report. ( 27190773 )
2016
42
Rheumatoid arthritis and antisynthetase syndrome. A three cases report. ( 26968110 )
2016
43
A Curious Case of Acute Respiratory Failure: Is It Antisynthetase Syndrome? ( 27433359 )
2016
44
Antisynthetase syndrome (ASS) presenting as acute respiratory distress syndrome (ARDS) in a patient without myositis features. ( 27941112 )
2016
45
A Negative Antinuclear Antibody Does Not Indicate Autoantibody Negativity in Myositis: Role of Anticytoplasmic Antibody as a Screening Test for Antisynthetase Syndrome. ( 27909085 )
2016
46
Pulmonary Involvement in the Antisynthetase Syndrome: A Comparative Cross-sectional Study. ( 27036381 )
2016
47
Antisynthetase Syndrome: A Rare Cause for ILD. ( 27134916 )
2016
48
Regression of microangiopathy in antisynthetase syndrome. ( 27940598 )
2016
49
New Insights into Antisynthetase Syndrome. ( 28461832 )
2016
50
The Diagnosis and Treatment of Antisynthetase Syndrome. ( 27594777 )
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 9.54 HARS KARS TARS
2 identical protein binding GO:0042802 9.5 HARS KARS NCR3
3 protein homodimerization activity GO:0042803 9.43 KARS NCR3 TARS
4 nucleotide binding GO:0000166 9.4 KARS TARS
5 tRNA binding GO:0000049 9.16 KARS TARS
6 ligase activity GO:0016874 9.13 HARS KARS TARS
7 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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