Antisynthetase syndrome
Synonyms: AS syndrome · ASS · ASyS · Anti-ARS syndrome · Anti-Jo1 syndrome · Anti-aminoacyl-tRNA synthetase syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult, Elderly
- Status
- active
A rare idiopathic inflammatory myopathy (IIM) characterized principally by myositis, generally symmetrical arthritis and interstitial lung disease (ILD) in association with serum autoantibodies to aminoacyl-transfer RNA synthetases (anti-ARS). More variable features include arthralgia, Raynaud phenomenon, heliotrophic rash, distal esophageal dysmotility and mechanic's hands.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Antisynthetase syndrome | AS syndrome · ASS · ASyS · Anti-ARS syndrome · Anti-Jo1 syndrome · Anti-aminoacyl-tRNA synthetase syndrome |
| fr | Syndrome des antisynthétases | Syndrome anti-Jo1 |
| de | Anti-Synthetase-Syndrom | AS-Syndrom · ASS · ASyS · Anti-ARS-Syndrom · Anti-Aminoacyl-tRNA-Synthetase-Syndrom · Anti-Jo-1-Syndrom |
| es | Síndrome antisintetasa | Síndrome AS · Síndrome anti-ARS · Síndrome anti-Jo1 · Síndrome anti-aminoacil-ARNt sintetasa |
| it | Sindrome da antisintetasi | AAS · ASyS · Sindrome AS · Sindrome anti-ARS · Sindrome anti-Jo1 · Sindrome anti-aminoacil-tRNA sintetasi |
| nl | Antisynthetasesyndroom | Anti-ARS-syndroom · Anti-Jo1-syndroom · Anti-aminoacyl-tRNA-synthetasesyndroom · AS-syndroom · ASS · ASyS |
| pt | Síndrome anti-sintetase | |
| pl | Zespół antysyntetazowy | = en |
| cs | Antisyntetázový syndrom | AS syndrom · Anti-Jo1 syndrom |
| uk | Антисинтетазний синдром | Синдром анти-Jo1 · Синдром AS |
| zh | 抗合成酶综合征 | 抗Jo1综合症 |
| tr | Antisentaz sendromu | AS sendromu · Anti-Jo1 sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | M35.8 | NTBT | attributed | validated |
| ICD-11 | 4A43.Y | NTBT | index | validated |
| MONDO | 0019344 | E | validated | |
| MeSH | C537778 | E | validated | |
| UMLS | C2609059 | E | validated | |
| GARD | 735 | E | validated | |
| MedDRA | 10068801 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:98482Idiopathic inflammatory myopathy
rare neurological diseases; rare systemic and rheumatological diseases - ORPHA:264745Secondary interstitial lung disease specific to adulthood associated with a systemic disease
rare respiratory diseases; rare transplant-related disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 3.5 / 100 000 | Worldwide | Value and class | Validated | [EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
44 annotations · validated 2024-06-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006530 | Abnormal pulmonary interstitial morphology | |
| HP:0002960 | Autoimmunity | |
| HP:0100749 | Chest pain | |
| HP:0012735 | Cough | |
| HP:0001324 | Muscle weakness | |
| HP:0003326 | Myalgia | |
| HP:0100614 | Myositis | |
| HP:0002206 | Pulmonary fibrosis | |
| HP:0002093 | Respiratory insufficiency | |
| Frequent (79-30%) | ||
| HP:0034145 | Anti-alanyl-tRNA synthetase antibody positivity | |
| HP:0034147 | Anti-aminoacyl-tRNA synthetase antibody positivity | |
| HP:0034151 | Anti-asparaginyl-tRNA synthetase antibody positivity | |
| HP:0034153 | Anti-cytosolic-5-nucleotidase-1A antibody positivity | |
| HP:0034146 | Anti-glycyl tRNA-synthetase antibody positivity | |
| HP:0034152 | Anti-histidyl tRNA synthetase antibody positivity | |
| HP:0034148 | Anti-isoleucyl tRNA-synthetase antibody positivity | |
| HP:0034149 | Anti-phenylalanyl tRNA synthetase antibody positivity | |
| HP:0034143 | Anti-threonyl-tRNA synthetase antibody positivity | |
| HP:0034150 | Anti-tyrosyl-tRNA synthetase antibody positivity | |
| HP:0002829 | Arthralgia | |
| HP:0001369 | Arthritis | |
| HP:0002094 | Dyspnea | |
| HP:0003457 | EMG abnormality | |
| HP:0000969 | Edema | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0001945 | Fever | |
| HP:0001252 | Hypotonia | |
| HP:0001097 | Keratoconjunctivitis sicca | |
| HP:0100679 | Lack of skin elasticity | |
| HP:0030880 | Raynaud phenomenon | |
| HP:0000217 | Xerostomia | |
| Occasional (29-5%) | ||
| HP:0001608 | Abnormality of the voice | |
| HP:0001659 | Aortic regurgitation | |
| HP:0002015 | Dysphagia | |
| HP:6001014 | Hiker's feet | |
| HP:0001373 | Joint dislocation | |
| HP:6001013 | Mechanic's hands | |
| HP:0012819 | Myocarditis | |
| HP:0002664 | Neoplasm | |
| HP:0000989 | Pruritus | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0000988 | Skin rash | |
| HP:0100585 | Telangiectasia of the skin | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 32284267[PMID]_35382516[PMID]_36186825[PMID]_37516893[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/81
- This record as JSON: /data/d/81.json