ORPHA:727203
SCN5A-related isolated congenital long QT syndrome
Also known as: LQTS type 3 · SCN5A-related isolated congenital LQTS
Publications
195
Trials
0
Interventional, condition-specific
Researchers
1,119
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
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
195 matched papers (141 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?
195
195 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.
195 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).
141 in the last 10 years · low confidence
Phrase hits: 195 · MeSH hits: 0
Who's working on it?
1,119
Distinct author names in 195 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.
- 01Wilde AAM10 papers · 2026
Heart Centre, Department of Cardiology, Amsterdam Universitair Medische Centra, Amsterdam, The Netherlands a.a.wilde@amsterdamumc.nl.
Papers in Europe PMC - 02Ackerman MJ8 papers · 2023
Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota; Division of Heart Rhythm Services, Department of Cardiovascular Diseases, Mayo Clinic, Rochester, Minnesota; Department of Molecular Pharmacology and Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic College of Biomedical Sciences, Mayo Clinic, Rochester, Minnesota. Electronic address: ackerman.michael@mayo.edu.
Papers in Europe PMC - 03Priori SG6 papers · 2023
Novel Arrhythmogenic Mechanism Program, Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain.
Papers in Europe PMC - 04Huang X5 papers · 2026
Department of Physics, South China University of Technology, Guangzhou, China.
Papers in Europe PMC - 05Postema PG5 papers · 2023
Heart Centre, Department of Cardiology, Amsterdam Universitair Medische Centra, Amsterdam, The Netherlands.
Papers in Europe PMC - 06Schwartz PJ5 papers · 2023
Istituto Auxologico Italiano, IRCCS, Laboratory of Cardiovascular Genetics Milan, Italy.
Papers in Europe PMC - 07Wilders R5 papers · 2023
Department of Anatomy, Embryology and Physiology, Heart Failure Research Center, Academic Medical Center, University of Amsterdam, P.O. Box 22700, 1100 DE Amsterdam, The Netherlands.
Papers in Europe PMC - 08
- 09Blom NA4 papers · 2025
Department of Paediatric Cardiology, Emma Children's Hospital, Academic Medical Centre, Amsterdam, The Netherlands.
Papers in Europe PMC - 10
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.
low 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.
"SCN5A-related isolated congenital long QT syndrome" OR "LQTS type 3" OR "SCN5A-related isolated congenital LQTS"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"SCN5A-related isolated congenital long QT syndrome" OR "LQTS type 3" OR "SCN5A-related isolated congenital LQTS"
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
- No Orphanet definition and no Mondo IDs — likely taxonomy scaffolding; confidence capped at low
Ingested 2026-07-27T21:27:28.373Z