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ORPHA:66634

Dilated cardiomyopathy with ataxia

medium confidenceDisorder

Also known as: 3-methylglutaconic aciduria type 5 · DCMA syndrome · MGA5

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

621

82.3th percentile

Trials

0

Interventional, condition-specific

Researchers

976

Distinct authors in sample

Gene link

DNAJC19

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Dilated with (DCMA) is characterized by severe early onset (before the age of three years) dilated (DCM) with conduction defects (long QT syndrome), non- cerebellar , testicular dysgenesis, and 3-methylglutaconic aciduria.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (6)

3-methylglutaconic aciduria caused by mutation in DNAJC19 · 3-methylglutaconic aciduria type V · DCMA · DNAJC19 3-methylglutaconic aciduria · MGCA5 · dilated cardiomyopathy with ataxia

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

No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Definitive — DNAJC19

  2. LiteraturePresent

    621 matched papers (454 in last 10 years) Source

  3. Phenotype characterisedPresent

    63 HPO annotations (e.g. Intrauterine growth retardation; Prolonged QT interval; Normochromic microcytic anemia) 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 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?

Yes — we know a specific gene responsible (DNAJC19).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

63

Associated phenotypes · MONDO:0012435

  • Intrauterine growth retardation
  • Prolonged QT interval
  • Normochromic microcytic anemia
  • Neurodevelopmental delay
  • Seizure

Showing 5 of 63 — 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

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?

621

621 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.

621 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).

454 in the last 10 years · medium confidence · 82.3th percentile (publications denominator)

Phrase hits: 158 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

976

Distinct author names in 158 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
    Khan A12 papers · 2025

    Department of Medical Genetics and Pediatrics, Cumming School of Medicine, University of Calgary, Alberta Children's Hospital, 2888 Shaganappi Trail NW, Calgary, AB, Canada, T3B 6A8. khaa@ucalgary.ca.

    Papers in Europe PMC
  2. 02
    Greenway SC11 papers · 2025

    Department of Cardiac Sciences, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada.

    Papers in Europe PMC
  3. 03
    Zhao T6 papers · 2022

    Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada.

    Papers in Europe PMC
  4. 04
    Claypool SM5 papers · 2024

    Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD 21205-2185, USA, sclaypo1@jhmi.edu.

    Papers in Europe PMC
  5. 05
    Dudek J5 papers · 2024

    Department of Translational Research, Comprehensive Heart Failure Center, University Clinic Würzburg, Wurzburg, Germany.

    Papers in Europe PMC
  6. 06
    Machiraju P5 papers · 2022

    Department of Cardiac Sciences, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.

    Papers in Europe PMC
  7. 07
    Wortmann SB5 papers · 2017

    Nijmegen Centre for Mitochondrial Disorders at the Department of Pediatrics, Institute of Genetic and Metabolic Disease, Nijmegen, The Netherlands, s.wortmann@cukz.umcn.nl.

    Papers in Europe PMC
  8. 08
    Greenberg ML4 papers · 2016

    Department of Biological Sciences, Wayne State University, Detroit, 5047 Gullen Mall, Michigan, 48202, MI, USA. mgreenberg@wayne.edu.

    Papers in Europe PMC
  9. 09
    Iqbal F4 papers · 2020

    Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.

    Papers in Europe PMC
  10. 10
    Maack C4 papers · 2025

    Department of Translational Research, Comprehensive Heart Failure Center, University Clinic Würzburg, Wurzburg, Germany.

    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).

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.

medium 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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

General rare disease registries you may be eligible for

These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.

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 2026-07-30

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).

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 Dilated cardiomyopathy with ataxia — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

Likely covered — the policy lists Organic acidemia as a category (Group 1), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.

Group 1 — one-time curative treatment

Up to ₹50 lakh per patient

Financial support for treatment at notified Centres of Excellence (figures evolved from the original ₹20 lakh Group-1 ceiling).

Policy figures change. Verify current MoHFW / CoE guidance before relying on any amount. Verify

Centres of Excellence (15)
  • All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
  • Maulana Azad Medical College — New Delhi, Delhi
  • Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
  • Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
  • Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
  • King Edward Memorial Hospital — Mumbai, Maharashtra
  • Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
  • Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
  • Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
  • All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
  • Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
  • All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
  • Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
  • All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
  • Assam Medical College & Hospital — Dibrugarh, Assam

Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/

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.

("Dilated cardiomyopathy with ataxia" OR "3-methylglutaconic aciduria type 5" OR "DCMA syndrome" OR "3-methylglutaconic aciduria caused by mutation in DNAJC19" OR "3-methylglutaconic aciduria type V" OR "DNAJC19 3-methylglutaconic aciduria" OR "MGCA5") OR (MESH:"3-Methylglutaconic Aciduria, Type V") OR ("DNAJC19" OR "DNAJC19 syndrome" OR "DNAJC19-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: 3-Methylglutaconic Aciduria, Type V

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

"Dilated cardiomyopathy with ataxia" OR "3-methylglutaconic aciduria type 5" OR "DCMA syndrome" OR "3-methylglutaconic aciduria caused by mutation in DNAJC19" OR "3-methylglutaconic aciduria type V" OR "DNAJC19 3-methylglutaconic aciduria" OR "MGCA5" OR "3-Methylglutaconic Aciduria, Type V"

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

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: MGA5; DCMA

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T01:22:22.786Z