ORPHA:37553
Andersen-Tawil syndrome
Also known as: Andersen syndrome · LQT7 · Long QT syndrome type 7
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
1,040
91.3th percentile
Trials
2
Interventional, condition-specific
Researchers
1,108
Distinct authors in sample
Gene link
KCNJ2
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.
How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008222
- MeSH:D050030
- OMIM:170390
- UMLS:C1563715
- NCIT:C84559
Additional Mondo synonyms (3)
Andersen cardiodysrhythmic periodic paralysis · long QT syndrome 7 · long QT syndrome type 7
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.
- Gene identifiedPresent
Definitive — KCNJ2
- LiteraturePresent
1,040 matched papers (594 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 trialPresent
2 matched on ClinicalTrials.gov (1 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?
Yes — we know a specific gene responsible (KCNJ2).
GenCC classification: Definitive.
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?
1,040
1,040 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
1,040 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).
594 in the last 10 years · medium confidence · 91.3th percentile (publications denominator)
Phrase hits: 1,040 · MeSH hits: 0
Who's working on it?
1,108
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.
- 01Jalife J9 papers · 2026
Department of Internal Medicine and Center for Arrhythmia Research, University of Michigan, Ann Arbor, Michigan, USA jrual@umich.edu jjalife@umich.edu.
Papers in Europe PMC - 02Moreno-Manuel AI8 papers · 2026
Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain.
Papers in Europe PMC - 03Gutiérrez LK7 papers · 2026
Centro Nacional de Investigaciones Cardiovasculares (CNIC) Carlos III, 28029 Madrid, Spain.
Papers in Europe PMC - 04Hanna MG7 papers · 2023
Centre for Neuromuscular Diseases, QS UCL Institute of Neurology, London, UK.
Papers in Europe PMC - 05Vivekanandam V7 papers · 2024
Centre for Neuromuscular Diseases, QS UCL Institute of Neurology, London, UK.
Papers in Europe PMC - 06Cruz FM6 papers · 2026
Centro Nacional de Investigaciones Cardiovasculares (CNIC) Carlos III, 28029 Madrid, Spain.
Papers in Europe PMC - 07Macías Á6 papers · 2026
Centro Nacional de Investigaciones Cardiovasculares (CNIC) Carlos III, 28029 Madrid, Spain.
Papers in Europe PMC - 08Martínez-Carrascoso I6 papers · 2026
Centro Nacional de Investigaciones Cardiovasculares (CNIC) Carlos III, 28029 Madrid, Spain.
Papers in Europe PMC - 09Totomoch-Serra A6 papers · 2025
Department of Genetics and Molecular Biology, Centro de Investigación y Estudios Avanzados del Instituto Politécnico Nacional, Mexico City; Doctoral Program in Medical Science, Universidad de la Frontera, Temuco, Chile.
Papers in Europe PMC - 10Vera-Pedrosa ML6 papers · 2026
Centro Nacional de Investigaciones Cardiovasculares (CNIC) Carlos III, 28029 Madrid, Spain.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
2
interventional trials for this specific condition
2 interventional trials matched this specific condition name; 1 currently recruiting in our sample.
Data as of 27 July 2026
2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).
medium confidence · 82.4th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
2 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT06205550·NOT YET RECRUITING·N-of-1 in ATS and MEPPC
Conditions: Andersen Tawil Syndrome · Multifocal Ectopic Purkinje-related Premature Contractions·Matched via name phrase
Observational and natural-history studies
2 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.
None of the matched observational studies is currently listed as recruiting.
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.
"Andersen-Tawil syndrome" OR "Andersen syndrome" OR "Long QT syndrome type 7" OR "Andersen cardiodysrhythmic periodic paralysis" OR "long QT syndrome 7"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Andersen-Tawil syndrome" OR "Andersen syndrome" OR "Long QT syndrome type 7" OR "Andersen cardiodysrhythmic periodic paralysis" OR "long QT syndrome 7" OR "KCNJ2"
Recall-expansion terms: KCNJ2
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: 2 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: LQT7
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T23:59:01.263Z