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ORPHA:65283

Timothy syndrome

low confidenceDisorder

Also known as: LQT8 · Long QT syndrome type 8 · Long QT syndrome-syndactyly syndrome

Publications

8,094

Trials

1

Interventional, condition-specific

Researchers

1,135

Distinct authors in sample

Gene link

CACNA1C

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare multiple anomalies syndrome with cardiac involvement as a major feature characterized by QT prolongation, heart defects, syndactyly, facial dysmorphism and neurodevelopmental features. There are three clinical phenotypes recognized, the classical types that present with a prolonged QT interval and either with (TS1) or without (TS2) cutaneous syndactyly of fingers and toes. The atypical form (ATS) causes multi-system health concerns but not necessarily with prolonged QT.

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.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

TIMOTHY syndrome · TS · long QT syndrome-syndactyly 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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — CACNA1C

  2. LiteraturePresent

    8,094 matched papers (5,719 in last 10 years) Source

  3. Phenotype characterisedPresent

    32 HPO annotations (e.g. Hypotonia; Intellectual disability; Hypocalcemia) Source

  4. Animal modelPresent

    3 genotype models (Mus musculus) Source

  5. Orphan designationNot found

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

  6. Interventional trialPresent

    1 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 (CACNA1C).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

32

Associated phenotypes · MONDO:0010979

  • Hypotonia
  • Intellectual disability
  • Hypocalcemia
  • Cutaneous syndactyly
  • Ventricular tachycardia

Showing 5 of 32 — open Monarch for the full list.

Animal models (Monarch / Alliance)

3

Model associations linked to this Mondo ID

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?

8,094

8,094 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.

8,094 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).

5,719 in the last 10 years · low confidence

Phrase hits: 1,535 · MeSH hits: 51

Open Europe PMC search

Who's working on it?

1,135

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
    Dick IE9 papers · 2026

    Department of Physiology, University of Maryland School of Medicine, Baltimore, MD, USA. ied@som.umaryland.edu.

    Papers in Europe PMC
  2. 02
    Timothy KW9 papers · 2026

    Timothy Syndrome Foundation, Elliott City, Maryland.

    Papers in Europe PMC
  3. 03
    Golden A7 papers · 2026

    Laboratory of Biochemistry and Genetics, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, United States.

    Papers in Europe PMC
  4. 04
    Pitt GS6 papers · 2026

    Cardiovascular Research Institute, Weill Cornell Medicine, 413 E. 69th St., New York, NY, 10021, USA. geoffrey.pitt@med.cornell.edu.

    Papers in Europe PMC
  5. 05
    Priori SG6 papers · 2026

    Unit of Molecular Cardiology, Istituti Clinici Scientifici Maugeri, IRCCS, Pavia, Italy; Department of Molecular Medicine, University of Pavia, Pavia, Italy.

    Papers in Europe PMC
  6. 06
    Trancuccio A6 papers · 2026

    Unit of Molecular Cardiology, Istituti Clinici Scientifici Maugeri, IRCCS, Pavia, Italy; Department of Molecular Medicine, University of Pavia, Pavia, Italy.

    Papers in Europe PMC
  7. 07
    Bauer R5 papers · 2026

    Laboratory of Biochemistry and Genetics, National Institute of Diabetes, Digestive, and Kidney Diseases, National Institutes of Health, Bethesda, MD, United States.

    Papers in Europe PMC
  8. 08
    Hall J5 papers · 2026

    Neuroscience & Mental Health Innovation Institute, Cardiff University, Cardiff, Wales, UK.

    Papers in Europe PMC
  9. 09
    Horie M5 papers · 2022

    Department of Cardiovascular Medicine, Shiga University of Medical Science, Ohtsu, Shiga, Japan.

    Papers in Europe PMC
  10. 10
    Levy RJ5 papers · 2026

    Division of Child Neurology, Department of Neurology and Neurological Sciences, Stanford University, Stanford, CA, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; 1 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

1 observational study matches 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 48 · after dedupe 47 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 47 · dropped 0 · fetched 2026-07-30

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 (47)

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 Timothy 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.

("Timothy syndrome" OR "Long QT syndrome type 8" OR "Long QT syndrome-syndactyly syndrome") OR (MESH:"Timothy syndrome") OR ("CACNA1C" OR "CACNA1C syndrome" OR "CACNA1C-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Timothy syndrome

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

"Timothy syndrome" OR "Long QT syndrome type 8" OR "Long QT syndrome-syndactyly syndrome"

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

Study-type breakdown: 1 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: LQT8; TS

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
  • Publication count (8094) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T01:15:42.672Z