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ORPHA:81

Antisynthetase syndrome

low confidenceDisorder

Also known as: AS syndrome · ASS · ASyS · Anti-ARS syndrome · Anti-Jo1 syndrome · Anti-aminoacyl-tRNA synthetase syndrome

Publications

4,319,086

Trials

7

Interventional, condition-specific

Researchers

1,148

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare inflammatory (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.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (1)

anti-Jo1 syndrome

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    4,319,086 matched papers (2,340,337 in last 10 years) Source

  3. Phenotype characterisedPresent

    44 HPO annotations (e.g. Muscle weakness; Respiratory insufficiency; Abnormal pulmonary interstitial morphology) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    7 matched on ClinicalTrials.gov (4 recruiting in sample)

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

44

Associated phenotypes · MONDO:0019344

  • Muscle weakness
  • Respiratory insufficiency
  • Abnormal pulmonary interstitial morphology
  • Edema
  • Keratoconjunctivitis sicca

Showing 5 of 44 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

4,319,086

4,319,086 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

4,319,086 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

2,340,337 in the last 10 years · low confidence

Phrase hits: 4,318,888 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,148

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Cavagna L8 papers · 2026

    Division of Rheumatology, University and IRCCS Policlinico S. Matteo Foundation, Pavia, Italy.

    Papers in Europe PMC
  2. 02
    Shinjo SK7 papers · 2025

    Division of Rheumatology, Faculdade de Medicina FMUSP, Universidade de Sao Paulo, Sao Paulo, Brazil.

    Papers in Europe PMC
  3. 03
    Zhang Y6 papers · 2026

    Department of Pulmonary and Critical Care Medicine, Nanjing Drum Tower Hospital Clinical College of Nanjing Medical University, No. 321 Zhongshan Road, Nanjing, 210008, Jiangsu, China.

    Papers in Europe PMC
  4. 04
    Zanframundo G5 papers · 2026

    Department of Internal Medicine and Medical Therapeutics, University of Pavia, Pavia, Lombardia, Italy.

    Papers in Europe PMC
  5. 05
    Zhang X5 papers · 2026

    Department of Rheumatology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.

    Papers in Europe PMC
  6. 06
    Aggarwal R4 papers · 2026

    Division of Rheumatology and Clinical Immunology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.

    Papers in Europe PMC
  7. 07
    Castañeda S4 papers · 2025

    Rheumatology Department, Hospital de la Princesa, IIS-Princesa, Madrid, Spain.

    Papers in Europe PMC
  8. 08
    Fujimoto M4 papers · 2025

    Department of Dermatology, Osaka University, Graduate School of Medicine, Suita, Japan.

    Papers in Europe PMC
  9. 09
    Liu Y4 papers · 2026

    Department of Rheumatology, The Affiliated Yantai Yuhuangding Hospital of Qingdao University, Yantai, China.

    Papers in Europe PMC
  10. 10
    Lundberg IE4 papers · 2026

    Division of Rheumatology, Department of Medicine, Solna, Karolinska Institutet, Stockholm, Sweden.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

7

interventional trials for this specific condition

7 interventional trials matched this specific condition name; 4 currently recruiting in our sample.

Data as of 11 September 2026

7 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 90.9th percentile).

low confidence · 90.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

7 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

6 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 45 · after dedupe 44 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 44 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (44)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Antisynthetase syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

("Antisynthetase syndrome" OR "AS syndrome" OR "Anti-ARS syndrome" OR "Anti-Jo1 syndrome" OR "Anti-aminoacyl-tRNA synthetase syndrome")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Antisynthetase syndrome" OR "AS syndrome" OR "Anti-ARS syndrome" OR "Anti-Jo1 syndrome" OR "Anti-aminoacyl-tRNA synthetase syndrome"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 7 interventional · 6 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: ASS; ASyS

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T12:20:28.792Z