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Disease Profile

Antisynthetase syndrome

Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

1-9 / 100 000

US Estimated

Europe Estimated

Age of onset






Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.


Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.


dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.


recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.


Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.


Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.


Not applicable


Other names (AKA)

Anti-Jo1 syndrome; AS syndrome


Nervous System Diseases


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 diseasethickening 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 'aminoacyltRNA 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.[1][2][3][4]


The signs and symptoms of antisynthetase syndrome vary but may include:[5][1][2]

  • Fever
  • Loss of appetite
  • Weight loss
  • Muscle inflammation (myositis)
  • Inflammation of multiple joints (polyarthritis)
  • Interstitial lung disease (ILD) causing shortness of breath, coughing, and/or dysphagia
  • Mechanic's hands (thickened skin of tips and margins of the fingers)
  • Raynaud phenomenon

Some studies suggest that affected people may be at an increased risk for various types of cancer, as well.[1] Some symptoms of the disease seem to vary according to the autoantibody involved in the disease. Myopathy occurs more often in patients with anti-Jo-1 or anti-PL-7; anti-Jo-1 is related to severe arthritis and "mechanic's hand", while anti-PL-12 with higher rates of Raynaud phenomenon; and anti-PL-7, anti-PL-12, anti-KS, and anti-OJ with cases of ILD.[6] 

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
80%-99% of people have these symptoms
Autoimmune disease
Autoimmune disorder

[ more ]

Chest pain
Muscle weakness
Muscular weakness
Muscle ache
Muscle pain

[ more ]

Muscle inflammation
Pulmonary fibrosis
Respiratory insufficiency
Respiratory impairment
30%-79% of people have these symptoms
Fluid retention
Water retention

[ more ]

Elevated serum creatine kinase
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine phosphokinase
High serum creatine kinase
Increased CPK
Increased creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase

[ more ]

EMG abnormality
Keratoconjunctivitis sicca
Dry eyes
Lack of skin elasticity
Muscular hypotonia
Low or weak muscle tone
Dry mouth
Dry mouth syndrome
Reduced salivation

[ more ]

5%-29% of people have these symptoms
Abnormality of the voice
Voice abnormality
Aortic regurgitation
Poor swallowing
Swallowing difficulties
Swallowing difficulty

[ more ]

Joint dislocation
Joint dislocations
Recurrent joint dislocations

[ more ]

Inflammation of heart muscle
Itchy skin
Skin itching

[ more ]

Pulmonary arterial hypertension
Increased blood pressure in blood vessels of lungs
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections

[ more ]

Skin rash
Telangiectasia of the skin


The underlying cause of antisynthetase syndrome is currently unknown. However, it is considered an autoimmune disease. Autoimmune disorders occur when the body's immune system attacks and destroys healthy body tissue by mistake. In antisynthetase syndrome, specifically, the production of autoantibodies (antibodies that attack normal cells instead of disease-causing agents) that recognize and attack certain enzymes in the body called 'aminoacyltRNA synthetases' appears to be linked to the cause of the syndrome. Aminoacyl-tRNA synthetases are involved in protein production within the body. These autoantibodies seem to appear after certain viral infections, drug exposure or in some people who already have a genetic predisposition. The exact role of autoantibodies in causing antisynthetase syndrome is not yet understood.[1][2]

Aminoacyl-tRNA synthase (ARS) autoantibodies associated with ASS include anti-Jo1 (anti-histidyl), anti-EJ (anti-glycyl), anti-OJ (anti-isoleucyl), anti-PL7 (anti-threonyl), anti-PL12 (anti-alanyl), anti-SC (anti-lysil), anti-KS (anti-asparaginyl), anti-JS (anti-glutaminyl), anti-Ha or anti-YRS (anti-threonyl), anti-tryptophanyl, and anti-Zo (anti-phenylalanyl) autoantibodies, with anti-Jo1 being the most common.[7]


A diagnosis of antisynthetase syndrome is often suspected based on the presence of characteristic signs and symptoms once other conditions that cause similar features have been ruled out. Additional testing can then be ordered to confirm the diagnosis, determine the severity of the condition, and assist with determining treatment. This testing varies based on the signs and symptoms present in each person, but may include:[1][3]

Not all patients with antisynthetase antibodies or even those classified as having the antisynthetase syndrome have all manifestations of this syndrome. Diagnosis is considered in patients with an antisynthetase antibody plus two major criteria or one major criterion and two minor criteria:[2][6]

Major criteria:

1. Interstitial lung disease (not explained by environmental, occupational, medication exposure, and not related to any other base disease)

2. Polymyositis or dermatomyositis

Minor criteria:

1. Arthritis

2. Raynaud phenomenon

3. Mechanic's hand


Corticosteroids are typically the first-line of treatment and may be required for several months or years. These medications are often given orally; however, in severe cases, intravenous methylprednisolone may be prescribe initially. Immunosuppressive medications may also be recommended, especially in people with severe muscle weakness or symptomatic interstitial lung disease.[1][3] According to recent studies, Rituximab is the medication option when patients with lung disease do not respond well to other treatments.[8] Physical therapy is often necessary to improve weakness, reduce further muscle wasting from disuse, and prevent muscle contractures.[1][3]


Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Organizations Providing General Support

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

      • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
      • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

        In-Depth Information

        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Antisynthetase syndrome. Click on the link to view a sample search on this topic.


          1. Antisynthetase syndrome. DermNet NZ. December 2014; https://dermnetnz.org/immune/antisynthetase.html.
          2. Antisynthetase syndrome. Orphanet. May 2014; https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=8611.
          3. Chatterjee S, Prayson R, Farver C.. Antisynthetase syndrome: not just an inflammatory myopathy. Cleve Clin J Med. October 2013; 80(10):655-666. https://www.ncbi.nlm.nih.gov/pubmed/24085811.
          4. Mirrakhimov AE. Antisynthetase syndrome: a review of etiopathogenesis, diagnosis and management. Curr Med Chem. 2015; 22(16):1963-75.
          5. Miller ML & Vleugels RA. Clinical manifestations of dermatomyositis and polymyositis in adults. UpToDate. 2016;
          6. Esposito ACC, Gige TC & Miot HA. Syndrome in question: antisynthetase syndrome (anti-PL-7). An Bras Dermatol. 2016; 91(5):683-685. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5087238/.
          7. Rojas-Serrano J, Herrera-Bringas D, Mejía M, Rivero H, Mateos-Toledo H & Figueroa JE. Prognostic factors in a cohort of antisynthetase syndrome (ASS): serologic profile is associated with mortality in patients with interstitial lung disease (ILD).. Clin Rheumatol. September, 2015; 34(9):1563-9. https://www.ncbi.nlm.nih.gov/pubmed/26219488.
          8. Sharp C, McCabe M, Dodds N, Edey A, Mayers L, Adamali H, Millar AB & Gunawardena H. Rituximab in autoimmune connective tissue disease-associated interstitial lung disease. Rheumatology (Oxford). April 8, 2016; pii: kew195. https://www.ncbi.nlm.nih.gov/pubmed/27060110.
          9. Trallero-Araguás E& cols. Clinical manifestations and long-term outcome of anti-Jo1 antisynthetase patients in a large cohort of Spanish patients from the GEAS-IIM group. Semin Arthritis Rheum. March 30, 2016; 16:30001-4.. https://www.ncbi.nlm.nih.gov/pubmed/27139168.

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