ORPHA:1349
Mitochondrial DNA-related cardiomyopathy and hearing loss
Also known as: Maternally-inherited cardiomyopathy and deafness · mtDNA-related cardiomyopathy and deafness · mtDNA-related cardiomyopathy and hearing loss · tRNA-LYS-related cardiomyopathy-hearing loss syndrome
Publications
6
17.7th percentile
Trials
0
Interventional, condition-specific
Researchers
48
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare disease that has a heterogeneous clinical presentation characterized by the association of sensorineural hearing loss with hypertrophic and, in the majority of cases, encephalomyopathy symptoms such as , slurred speech, external ophthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0015283
- UMLS:C4510409
Additional Mondo synonyms (1)
maternally-inherited cardiomyopathy and deafness
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
6 matched papers (4 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
6
6 papers have ever been indexed 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.
6 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).
4 in the last 10 years · high confidence · 17.7th percentile (publications denominator)
Phrase hits: 6 · MeSH hits: 0
Who's working on it?
48
Distinct author names in 6 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.
- 01Ahmad KE1 paper · 2022
From the Department of Neurogenetics (R.L.D., K.R.K., C.L., K.E.A., F.E.-H., J.-S.P., C.M.S.), Kolling Institute, Faculty of Medicine and Health, University of Sydney and Royal North Shore Hospital, Northern Sydney Local Health District, St. Leonards; Kinghorn Centre for Clinical Genomics (R.L.D., K.R.K., C.P., A.E.M., V.G., A.C.M., M.E.D., M.J.C., C.M.S.), Garvan Institute of Medical Research, Darlinghurst; Department of Neurology (K.R.K., C.L., K.E.A., F.E.-H., C.M.S.), Royal North Shore Hospital, Northern Sydney Local Health District, St. Leonards; Dr. Kumar is now with Molecular Medicine Laboratory, Concord Hospital, Concord, New South Wales, Australia; Dr. Park is now with Cenyx Biotech, Jongno-gu, Seoul, South Korea; Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, Melbourne; Department of Paediatrics (J.C.), University of Melbourne, Victoria; Prof. Schofield is now with GenIMPACT: Centre for Economic Impacts of Genomic Medicine, Macquarie University, Macquarie Park; Prof. Dinger is now with School of Biotechnology and Biomolecular Sciences, University of New South Wales, Randwick; and Prof. Cowley is now with Computational Biology Group, Children's Cancer Institute, University of New South Wales, Randwick, Australia.
Papers in Europe PMC - 02Bakis H1 paper · 2023
CHU de Bordeaux, Service de Néphrologie, Transplantation, Dialyse et Aphérèses, Bordeaux, France.
Papers in Europe PMC - 03Belaroussi Y1 paper · 2023
Université de Bordeaux, INSERM, Bordeaux Population Health Center, ISPED, Bordeaux, France.
Papers in Europe PMC - 04
- 05Bhuiyan ZA1 paper · 2023
Division of Genetic Medicine, Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland.
Papers in Europe PMC - 06Bonora E1 paper · 2023
Department of Medical and Surgical Sciences, University of Bologna, 40138 Bologna, Italy.
Papers in Europe PMC - 07Cataldi-Stagetti E1 paper · 2023
Department of Medical and Surgical Sciences, University of Bologna, 40138 Bologna, Italy.
Papers in Europe PMC - 08Christodoulou J1 paper · 2022
From the Department of Neurogenetics (R.L.D., K.R.K., C.L., K.E.A., F.E.-H., J.-S.P., C.M.S.), Kolling Institute, Faculty of Medicine and Health, University of Sydney and Royal North Shore Hospital, Northern Sydney Local Health District, St. Leonards; Kinghorn Centre for Clinical Genomics (R.L.D., K.R.K., C.P., A.E.M., V.G., A.C.M., M.E.D., M.J.C., C.M.S.), Garvan Institute of Medical Research, Darlinghurst; Department of Neurology (K.R.K., C.L., K.E.A., F.E.-H., C.M.S.), Royal North Shore Hospital, Northern Sydney Local Health District, St. Leonards; Dr. Kumar is now with Molecular Medicine Laboratory, Concord Hospital, Concord, New South Wales, Australia; Dr. Park is now with Cenyx Biotech, Jongno-gu, Seoul, South Korea; Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, Melbourne; Department of Paediatrics (J.C.), University of Melbourne, Victoria; Prof. Schofield is now with GenIMPACT: Centre for Economic Impacts of Genomic Medicine, Macquarie University, Macquarie Park; Prof. Dinger is now with School of Biotechnology and Biomolecular Sciences, University of New South Wales, Randwick; and Prof. Cowley is now with Computational Biology Group, Children's Cancer Institute, University of New South Wales, Randwick, Australia.
Papers in Europe PMC - 09Combe C1 paper · 2023
CHU de Bordeaux, Service de Néphrologie, Transplantation, Dialyse et Aphérèses, Bordeaux, France.
Papers in Europe PMC - 10Coviello DA1 paper · 2023
Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
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.
high 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.
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 2026-07-26This 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.
"Mitochondrial DNA-related cardiomyopathy and hearing loss" OR "Maternally-inherited cardiomyopathy and deafness" OR "mtDNA-related cardiomyopathy and deafness" OR "mtDNA-related cardiomyopathy and hearing loss" OR "tRNA-LYS-related cardiomyopathy-hearing loss syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Mitochondrial DNA-related cardiomyopathy and hearing loss" OR "Maternally-inherited cardiomyopathy and deafness" OR "mtDNA-related cardiomyopathy and deafness" OR "mtDNA-related cardiomyopathy and hearing loss" OR "tRNA-LYS-related cardiomyopathy-hearing loss syndrome"
Study-type breakdown: 0 interventional · 0 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
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 2026-07-26T17:08:17.423Z