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ORPHA:1194

TMEM70-related mitochondrial encephalo-cardio-myopathy

high confidenceDisorder

Also known as: Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency · Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency · Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency

Publications

529

80.4th percentile

Trials

0

Interventional, condition-specific

Researchers

66

Distinct authors in sample

Gene link

TMEM70

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

encephalo-cardio- due to TMEM70 mutation is characterized by early onset of , hypertrophic and apneic spells within hours after birth accompanied by lactic , 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 (5)

MC5DN2 · mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 · mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency · mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency · mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency

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 — TMEM70

  2. LiteraturePresent

    529 matched papers (387 in last 10 years) Source

  3. Phenotype characterisedPresent

    68 HPO annotations (e.g. Cryptorchidism; Hypospadias; Abnormality of the kidney) 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 (TMEM70).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

68

Associated phenotypes · MONDO:0013546

  • Cryptorchidism
  • Hypospadias
  • Abnormality of the kidney
  • Wide mouth
  • Hypotonia

Showing 5 of 68 — 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?

529

529 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.

529 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).

387 in the last 10 years · high confidence · 80.4th percentile (publications denominator)

Phrase hits: 8 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

66

Distinct author names in 8 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
    Alston CL1 paper · 2023

    NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.

    Papers in Europe PMC
  2. 02
    Azevedo L1 paper · 2024

    UMIB-Unit for Multidisciplinary Research in Biomedicine, School of Medicine and Biomedical Sciences (ICBAS), University of Porto, 4050-346 Porto, Portugal.

    Papers in Europe PMC
  3. 03
    Baines JP1 paper · 2023

    NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.

    Papers in Europe PMC
  4. 04
    Baldo MS1 paper · 2024

    Research and Development Unit, Human Genetics Department, National Institute of Health Doutor Ricardo Jorge, 4000-053 Porto, Portugal.

    Papers in Europe PMC
  5. 05
    Barretta F1 paper · 2020

    Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy.

    Papers in Europe PMC
  6. 06
    Batrakou DG1 paper · 2013

    Wellcome Trust Centre for Cell Biology and Institute of Cell Biology; University of Edinburgh; Edinburgh, UK.

    Papers in Europe PMC
  7. 07
    Blakely EL1 paper · 2023

    NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.

    Papers in Europe PMC
  8. 08
    Caiazza M1 paper · 2020

    Department of Translational Medical Sciences, University of Campania 'Luigi Vanvitelli', Monaldi Hospital, 80131 Naples, Italy.

    Papers in Europe PMC
  9. 09
    Coelho MP1 paper · 2024

    School of Medicine and Biomedical Sciences (ICBAS), University of Porto, 4050-313 Porto, Portugal.

    Papers in Europe PMC
  10. 10
    D'Imperio S1 paper · 2021

    Arrhythmology Department, IRCCS Policlinico San Donato, San Donato Milanese, Milan, 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.

high 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 TMEM70-related mitochondrial encephalo-cardio-myopathy — 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.

("TMEM70-related mitochondrial encephalo-cardio-myopathy" OR "Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency" OR "Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency" OR "Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency" OR "MC5DN2" OR "mitochondrial complex V (ATP synthase) deficiency, nuclear type 2") OR ("TMEM70" OR "TMEM70 syndrome" OR "TMEM70-related")

Run this search on Europe PMC

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

"TMEM70-related mitochondrial encephalo-cardio-myopathy" OR "Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency" OR "Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency" OR "Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency" OR "MC5DN2" OR "mitochondrial complex V (ATP synthase) deficiency, nuclear type 2"

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 2026-07-26T16:39:15.667Z