ORPHA:66634
Dilated cardiomyopathy with ataxia
Also known as: 3-methylglutaconic aciduria type 5 · DCMA syndrome · MGA5
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
158
68.5th percentile
Trials
0
Interventional, condition-specific
Researchers
976
Distinct authors in sample
Gene link
DNAJC19
Definitive
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0012435
- MeSH:C565706
- OMIM:610198
- UMLS:C1857776
- NCIT:C173146
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.”
2/6 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.
- Gene identifiedPresent
Definitive — DNAJC19
- LiteraturePresent
158 matched papers (113 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 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)
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?
158
158 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
158 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).
113 in the last 10 years · medium confidence · 68.5th percentile (publications denominator)
Phrase hits: 158 · MeSH hits: 0
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.
- 01Khan 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 - 02Greenway SC11 papers · 2025
Department of Cardiac Sciences, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada.
Papers in Europe PMC - 03Zhao 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 - 04Claypool SM5 papers · 2024
Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD 21205-2185, USA, sclaypo1@jhmi.edu.
Papers in Europe PMC - 05Dudek J5 papers · 2024
Department of Translational Research, Comprehensive Heart Failure Center, University Clinic Würzburg, Wurzburg, Germany.
Papers in Europe PMC - 06Machiraju P5 papers · 2022
Department of Cardiac Sciences, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
Papers in Europe PMC - 07Wortmann 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 - 08Greenberg 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 - 09Iqbal F4 papers · 2020
Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
Papers in Europe PMC - 10Maack 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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th 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.
- NCT01793168·RECRUITING·Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Conditions: Rare Disorders · Undiagnosed Disorders · Disorders of Unknown Prevalence · Cornelia De Lange Syndrome
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 2026-07-26Likely 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"
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" OR "DNAJC19"
Recall-expansion terms: DNAJC19
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; 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