RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:154

Familial isolated dilated cardiomyopathy

high confidenceDisorder

Also known as: Familial or idiopathic dilated cardiomyopathy

Publications

1,717

88.9th percentile

Trials

0

Interventional, condition-specific

Researchers

1,177

Distinct authors in sample

Gene link

TMPO

Refuted

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare familial characterized by the dilation of left ventricle and progressively impairing of systolic ventricular function, in the absence of abnormal loading conditions or coronary artery disease sufficient to cause global systolic impairment. The disease may cause heart failure or arrhythmia. The disease is isolated when no additional atypical cardiac or extracardiac manifestations are present.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

familial isolated dilated cardiomyopathy · familial or idiopathic dilated cardiomyopathy

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

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPartial

    Refuted — TMPO

  2. LiteraturePresent

    1,717 matched papers (1,319 in last 10 years) Source

  3. Phenotype characterisedPresent

    332 HPO annotations (e.g. Atrial fibrillation; Abnormal left ventricular function; Lipodystrophy) Source

  4. Animal modelPresent

    48 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 trialPartial

    None under the specific name; 136 for broader category dilated cardiomyopathy

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?

Uncertain — earlier gene claims are disputed or refuted.

GenCC classification: Refuted.

Phenotypes (Monarch / HPO)

332

Associated phenotypes · MONDO:0015470

  • Atrial fibrillation
  • Abnormal left ventricular function
  • Lipodystrophy
  • Congestive heart failure
  • Muscular dystrophy

Showing 5 of 332 — open Monarch for the full list.

Animal models (Monarch / Alliance)

48

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?

1,717

1,717 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.

1,717 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).

1,319 in the last 10 years · high confidence · 88.9th percentile (publications denominator)

Phrase hits: 36 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,177

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.

  1. 01
    Nema R14 papers · 2026

    Department of Bioscience, Manipal University Jaipur, University Jaipur, Dehmi Kalan, Jaipur-Ajmer Expressway, Jaipur, Rajasthan, 303007, India.

    Papers in Europe PMC
  2. 02
    Vats P14 papers · 2026

    Department of Bioscience, Manipal University Jaipur, University Jaipur, Dehmi Kalan, Jaipur-Ajmer Expressway, Jaipur, Rajasthan, 303007, India.

    Papers in Europe PMC
  3. 03
    Wang J11 papers · 2026

    Department of Chemistry, School of Science, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-0033, Japan. ohkoshi@chem.s.u-tokyo.ac.jp.

    Papers in Europe PMC
  4. 04
    Baweja B9 papers · 2026

    Department of Biosciences, Manipal University Jaipur, Dehmi Kalan, Jaipur-Ajmer Expressway, Jaipur, Rajasthan, India.

    Papers in Europe PMC
  5. 05
    Saini C8 papers · 2026

    Department of Biosciences, Manipal University Jaipur, Dehmi Kalan, Jaipur-Ajmer Expressway, Jaipur, Rajasthan, 303007, India.

    Papers in Europe PMC
  6. 06
    Nirmal S7 papers · 2026

    Department of Biosciences Manipal University Jaipur, Dehmi Kalan, Jaipur-Ajmer Expressway, Jaipur, Rajasthan, India.

    Papers in Europe PMC
  7. 07
    Zhang Z7 papers · 2026

    Division of Cardiology, Department of Medicine, University of California San Diego, La Jolla, California, United States of America.

    Papers in Europe PMC
  8. 08
    Kumar A6 papers · 2025

    Animal Genetics Division, ICAR-Indian Veterinary Research Institute, Izatnangar, Bareilly, 243122, India.

    Papers in Europe PMC
  9. 09
    Wang X6 papers · 2026

    Department of Occupational Medicine and Environmental Toxicology, Nantong Key Laboratory of Environmental Toxicology, School of Public Health, Nantong University, Nantong, China.

    Papers in Europe PMC
  10. 10
    Zhang Y6 papers · 2026

    Department of Oncology, The Third Xiangya Hospital of Central South University, Changsha, China.

    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). 136 trials are registered for dilated cardiomyopathy, the broader category — shown separately because they may or may not enrol this specific subtype.

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

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

high confidence · 38.6th 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.

136 interventional trials matched dilated cardiomyopathy, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: dilated cardiomyopathy

136

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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

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 Familial isolated dilated cardiomyopathy — 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.

("Familial isolated dilated cardiomyopathy" OR "Familial or idiopathic dilated cardiomyopathy") OR ("TMPO" OR "TMPO syndrome" OR "TMPO-related")

Run this search on Europe PMC

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

"Familial isolated dilated cardiomyopathy" OR "Familial or idiopathic dilated cardiomyopathy"

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

Parent-category trials query:

"dilated cardiomyopathy"

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

Ingested 2026-07-26T12:40:26.814Z