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ORPHA:37553

Andersen-Tawil syndrome

medium confidenceDisorder

Also known as: Andersen syndrome · LQT7 · Long QT syndrome type 7

Publications

4,262

91.8th percentile

Trials

2

Interventional, condition-specific

Researchers

1,108

Distinct authors in sample

Gene link

KCNJ2

Definitive

Readiness

4/6

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.

Orphanet entry

Cross-references

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

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.”

4/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — KCNJ2

  2. LiteraturePresent

    4,262 matched papers (2,844 in last 10 years) Source

  3. Phenotype characterisedPresent

    107 HPO annotations (e.g. Specific learning disability; Toe syndactyly; Bidirectional ventricular ectopy) 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

    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)

107

Associated phenotypes · MONDO:0008222

  • Specific learning disability
  • Toe syndactyly
  • Bidirectional ventricular ectopy
  • Delayed skeletal maturation
  • Prolonged QTc interval

Showing 5 of 107 — 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

2

Drugs / clinical candidates · MONDO_0008222

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

4,262

4,262 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=3967) is 59.

4,262 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).

2,844 in the last 10 years · medium confidence · 91.8th percentile (publications denominator)

Phrase hits: 1,040 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Jalife 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
  2. 02
    Moreno-Manuel AI8 papers · 2026

    Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain.

    Papers in Europe PMC
  3. 03
    Gutiérrez LK7 papers · 2026

    Centro Nacional de Investigaciones Cardiovasculares (CNIC) Carlos III, 28029 Madrid, Spain.

    Papers in Europe PMC
  4. 04
    Hanna MG7 papers · 2023

    Centre for Neuromuscular Diseases, QS UCL Institute of Neurology, London, UK.

    Papers in Europe PMC
  5. 05
    Vivekanandam V7 papers · 2024

    Centre for Neuromuscular Diseases, QS UCL Institute of Neurology, London, UK.

    Papers in Europe PMC
  6. 06
    Cruz FM6 papers · 2026

    Centro Nacional de Investigaciones Cardiovasculares (CNIC) Carlos III, 28029 Madrid, Spain.

    Papers in Europe PMC
  7. 07
    Macías Á6 papers · 2026

    Centro Nacional de Investigaciones Cardiovasculares (CNIC) Carlos III, 28029 Madrid, Spain.

    Papers in Europe PMC
  8. 08
    Martínez-Carrascoso I6 papers · 2026

    Centro Nacional de Investigaciones Cardiovasculares (CNIC) Carlos III, 28029 Madrid, Spain.

    Papers in Europe PMC
  9. 09
    Totomoch-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
  10. 10
    Vera-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 11 September 2026 · last trial check 28 July 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

medium confidence · 84.5th 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.

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.

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 41 · after dedupe 40 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 40 · 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 (40)

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 Andersen-Tawil 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.

("Andersen-Tawil syndrome" OR "Andersen syndrome" OR "Long QT syndrome type 7" OR "Andersen cardiodysrhythmic periodic paralysis" OR "long QT syndrome 7") OR ("KCNJ2" OR "KCNJ2 syndrome" OR "KCNJ2-related")

Run this search on Europe PMC

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"

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: ok — strategies attempted: phrase; 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