ORPHA:99063
Shone complex
Publications
403
85.3th percentile
Trials
0
Interventional, condition-specific
Researchers
1,208
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
Shone complex is a rare cardiac characterized by a complex of four obstructive lesions of the left heart: supravalvular mitral membrane, parachute mitral valve, muscular or membranous subvalvular aortic stenosis and coarctation of aorta. Clinical manifestations include heart murmur, shortness of breath and increased load intolerance, left ventricular hypertrophy and dilatation of the left atrium. Partial forms, involving only two or three out of the four specific anomalies, are also described and occasionally other cardiovascular anomalies (e.g. bicuspid aortic valve, patent ductus arteriosus, ventricular septal defect) may be associated.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0020404
- UMLS:C1868705
- NCIT:C99058
Additional Mondo synonyms (2)
shone syndrome · shone's syndrome (greater than 3 sites)
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
403 matched papers (311 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
403
403 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
403 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
311 in the last 10 years · medium confidence · 85.3th percentile (publications denominator)
Phrase hits: 403 · MeSH hits: 0
Who's working on it?
1,208
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Miranda WR6 papers · 2025
Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, 55905, USA.
Papers in Europe PMC - 02Egbe AC5 papers · 2025
Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, 55905, USA.
Papers in Europe PMC - 03Connolly HM4 papers · 2025
Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, 55905, USA.
Papers in Europe PMC - 04Dähnert I4 papers · 2026
Department of Pediatric Cardiology, Leipzig Heart Center, Leipzig, Germany.
Papers in Europe PMC - 05Ewert P4 papers · 2026
Congenital Heart Disease and Pediatric Cardiology, German Heart Center Munich, Technical University of Munich, Munich, Germany.
Papers in Europe PMC - 06Jain CC4 papers · 2025
Department of Cardiovascular Medicine, Mayo Clinic Rochester, Rochester, MN.
Papers in Europe PMC - 07Cleveland JD3 papers · 2025
Division of Cardiac Surgery, Department of Surgery, Heart Institute, Children's Hospital of Los Angeles, Los Angeles, Calif.
Papers in Europe PMC - 08Honjo O3 papers · 2025
Division of Cardiovascular Surgery, The Hospital for Sick Children, Temerty Faculty of Medicine, Toronto, Ontario, Canada
Papers in Europe PMC - 09Opotowsky AR3 papers · 2024
Department of Cardiology, Boston Children's Hospital, Boston, Massachusetts, USA; Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA.
Papers in Europe PMC - 10Sorrell VL3 papers · 2025
University of Kentucky Gill Heart & Vascular Institute, Lexington, Kentucky.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This 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.
"Shone complex" OR "shone syndrome" OR "shone's syndrome (greater than 3 sites)"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Shone complex" OR "shone syndrome" OR "shone's syndrome (greater than 3 sites)"
Study-type breakdown: 0 interventional · 0 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
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (403) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-27T05:57:25.141Z