ORPHA:2597
Mitochondrial myopathy-lactic acidosis-deafness syndrome
Also known as: Mitochondrial myopathy-lactic acidosis-hearing loss syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
1,402
Trials
0
Interventional, condition-specific
Researchers
1,117
Distinct authors in sample
Gene link
PNPLA8
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by , elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973.
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:0016825
- MeSH:C537476
- OMIM:251950
- UMLS:C1855033
Additional Mondo synonyms (2)
mitochondrial myopathy with lactic acidosis · mitochondrial myopathy-lactic acidosis-hearing loss syndrome
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
Strong — PNPLA8
- LiteraturePresent
1,402 matched papers (581 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 (PNPLA8).
GenCC classification: Strong.
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?
1,402
1,402 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=5449) is 41.
1,402 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).
581 in the last 10 years · low confidence
Phrase hits: 1,402 · MeSH hits: 0
Who's working on it?
1,117
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.
- 01Wang Z6 papers · 2025
Department of Neurology, Peking University First Hospital, Beijing, China. Electronic address: drwangzx@163.com.
Papers in Europe PMC - 02Suzuki T5 papers · 2023
Department of Chemistry and Biotechnology, Graduate School of Engineering, University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8656, Japan.
Papers in Europe PMC - 03Liu Y4 papers · 2025
Key Laboratory of RNA Innovation, Science and Engineering, Shanghai Key Laboratory of Molecular Andrology, CAS Center for Excellence in Molecular Cell Science, Shanghai Institute of Biochemistry and Cell Biology, Chinese Academy of Sciences, Shanghai 200031, China.
Papers in Europe PMC - 04Murayama K4 papers · 2025
Department of Metabolism, Chiba Children's Hospital, Chiba, Japan.
Papers in Europe PMC - 05Rashedi R4 papers · 2023
Functional Neurosurgery Research Center, Shohada Tajrish Neurosurgical Center of Excellence Shahid Beheshti University of medical Sciences Tehran Iran.
Papers in Europe PMC - 06Zhao Y4 papers · 2025
Department of Neurology, Qilu Hospital of Shandong University, Jinan, China.
Papers in Europe PMC - 07Deng J3 papers · 2024
Department of Neurology, Peking University First Hospital, Beijing, China.
Papers in Europe PMC - 08Finsterer J3 papers · 2020
Krankenanstalt Rudolfstiftung, Messerli Institute, Vienna, Austria.
Papers in Europe PMC - 09Goto YI3 papers · 2023
Department of Mental Retardation and Birth Defect Research, National Center of Neurology and Psychiatry (NCNP).
Papers in Europe PMC - 10Lee YM3 papers · 2024
Department of Pediatrics, Gangnam Severance Hospital, Severance Children's Hospital, Yonsei University College of Medicine, Seoul, Korea.
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.
low 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 myopathy-lactic acidosis-deafness syndrome" OR "Mitochondrial myopathy-lactic acidosis-hearing loss syndrome" OR "mitochondrial myopathy with lactic acidosis"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Mitochondrial myopathy-lactic acidosis-deafness syndrome" OR "Mitochondrial myopathy-lactic acidosis-hearing loss syndrome" OR "mitochondrial myopathy with lactic acidosis" OR "PNPLA8" OR "inborn mitochondrial myopathy" OR "congenital structural myopathy" OR "inborn mitochondrial metabolism disorder"
Recall-expansion terms: PNPLA8, inborn mitochondrial myopathy, congenital structural myopathy, inborn mitochondrial metabolism disorder
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; 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 (1402) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T20:39:04.713Z