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.
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
X-linked 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.
X-linked 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.
Other Names (AKA)
Anti-Jo1 syndrome; AS syndrome
Nervous System Diseases
- Loss of appetite
- Weight loss
- Muscle inflammation (myositis)
- Inflammation of multiple joints (polyarthritis)
- Interstitial lung disease (ILD) causing shortness of breath, coughing, and/or
- 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
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||
|80%-99% of people have these symptoms|
[ more ]
[ more ]
|30%-79% of people have these symptoms|
[ 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 creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase
[ more ]
|Lack of skin elasticity||0100679|
Low or weak muscle tone
Dry mouth syndrome
[ more ]
|5%-29% of people have these symptoms|
|Abnormality of the voice||
[ more ]
Recurrent joint dislocations
[ more ]
Inflammation of heart muscle
[ more ]
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 ]
|Telangiectasia of the skin||0100585|
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.
- Blood tests to evaluate levels of muscle
enzymessuch as creatine kinase and aldolase
- Laboratory tests to look for the presence of autoantibodies associated with antisynthetase syndrome
- High resolution computed tomography (HRCT) of the lungs
- Electromyography (EMG)
- Pulmonary function testing
- Magnetic resonance imaging (MRI) of affected muscles
- Evaluation of swallowing difficulties and aspiration risk
- Lung biopsy
Not all patients with antisynthetase
1. Interstitial lung disease (not explained by environmental, occupational, medication exposure, and not related to any other base disease)
2. Polymyositis or dermatomyositis
2. Raynaud phenomenon
3. Mechanic's hand
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include other inflammatory myopathies and idiopathic isolated ILD such as usual interstitial pneumonia. Joint involvement may also mimic or even overlap with rheumatoid arthritis (see this term).
Visit the Orphanet disease page for more information.
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.
American Autoimmune Related Diseases Association (AARDA)
19176 Hall Road, Suite 130
Clinton Township, MI 48038
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.
- 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.
- 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.
- Antisynthetase syndrome. DermNet NZ. December 2014; https://dermnetnz.org/immune/antisynthetase.html.
- Antisynthetase syndrome. Orphanet. May 2014; https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=8611.
- 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.
- Mirrakhimov AE. Antisynthetase syndrome: a review of etiopathogenesis, diagnosis and management. Curr Med Chem. 2015; 22(16):1963-75.
- Miller ML & Vleugels RA. Clinical manifestations of dermatomyositis and polymyositis in adults. UpToDate. 2016;
- 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/.
- 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.
- 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.
- 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.