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ORPHA:1349

Mitochondrial DNA-related cardiomyopathy and hearing loss

low confidenceDisorder

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

3,129

Trials

0

Interventional, condition-specific

Researchers

48

Distinct authors in sample

Gene link

—

Readiness

2/6

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.

Orphanet entry

Cross-references

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

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.”

2/6 stages with a signal

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    3,129 matched papers (1,859 in last 10 years) Source

  3. Phenotype characterisedPresent

    30 HPO annotations (e.g. Muscle weakness; Slurred speech; Hypertrophic cardiomyopathy) 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

30

Associated phenotypes · MONDO:0015283

  • Muscle weakness
  • Slurred speech
  • Hypertrophic cardiomyopathy
  • Mild global developmental delay
  • Progressive external ophthalmoplegia

Showing 5 of 30 — 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?

3,129

3,129 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.

3,129 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).

1,859 in the last 10 years · low confidence

Phrase hits: 6 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Ahmad 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
  2. 02
    Bakis H1 paper · 2023

    CHU de Bordeaux, Service de Néphrologie, Transplantation, Dialyse et Aphérèses, Bordeaux, France.

    Papers in Europe PMC
  3. 03
    Belaroussi Y1 paper · 2023

    Université de Bordeaux, INSERM, Bordeaux Population Health Center, ISPED, Bordeaux, France.

    Papers in Europe PMC
  4. 04
    Beyrath J1 paper · 2016

    Khondrion BV, Nijmegen, The Netherlands.

    Papers in Europe PMC
  5. 05
    Bhuiyan ZA1 paper · 2023

    Division of Genetic Medicine, Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland.

    Papers in Europe PMC
  6. 06
    Bonora E1 paper · 2023

    Department of Medical and Surgical Sciences, University of Bologna, 40138 Bologna, Italy.

    Papers in Europe PMC
  7. 07
    Cataldi-Stagetti E1 paper · 2023

    Department of Medical and Surgical Sciences, University of Bologna, 40138 Bologna, Italy.

    Papers in Europe PMC
  8. 08
    Christodoulou 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
  9. 09
    Combe C1 paper · 2023

    CHU de Bordeaux, Service de Néphrologie, Transplantation, Dialyse et Aphérèses, Bordeaux, France.

    Papers in Europe PMC
  10. 10
    Coviello 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 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.

low 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.

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 Mitochondrial DNA-related cardiomyopathy and hearing loss — 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.

("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") OR ("DNA syndrome" OR "DNA-related")

Run this search on Europe PMC

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
  • Publication count (3129) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T17:08:17.423Z