ORPHA:254925
Combined oxidative phosphorylation defect type 4
Also known as: COXPD4
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
24
37.1th percentile
Trials
0
Interventional, condition-specific
Researchers
187
Distinct authors in sample
Gene link
TUFM
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Combined oxidative phosphorylation defect type 4 is a rare disorder due to a defect in protein synthesis characterized by a onset of severe and respiratory distress, persistent lactic with episodes of crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy.
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:0012534
- MeSH:C565690
- OMIM:610678
- UMLS:C1857682
Additional Mondo synonyms (4)
TUFM combined oxidative phosphorylation deficiency · combined oxidative phosphorylation defect type 4 · combined oxidative phosphorylation deficiency caused by mutation in TUFM · combined oxidative phosphorylation deficiency type 4
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 — TUFM
- LiteraturePresent
24 matched papers (20 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 (TUFM).
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?
24
24 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.
24 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).
20 in the last 10 years · high confidence · 37.1th percentile (publications denominator)
Phrase hits: 24 · MeSH hits: 0
Who's working on it?
187
Distinct author names in 24 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.
- 01Dong L2 papers · 2026
Genome Engineering Core, National Eye Institute, National Institutes of Health, 6 Center Drive, Bethesda, MD, 20892, USA.
Papers in Europe PMC - 02Abdenur JE1 paper · 2017
Division of Metabolic Disorders, CHOC Children's, Orange, CA, USA; Department of Pediatrics, University of California Irvine, Irvine, CA, USA. Electronic address: jabdenur@choc.org.
Papers in Europe PMC - 03Adams HHH1 paper · 2022
Department of Radiology and Nuclear Medicine, Erasmus University Medical Center, Rotterdam, the Netherlands; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands.
Papers in Europe PMC - 04Advani J1 paper · 2022
Neurobiology, Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, MSC0610, 6 Center Drive, Bethesda, MD, 20892, USA.
Papers in Europe PMC - 05Alcántara-Ortigoza MA1 paper · 2023
Laboratorio de Biología Molecular, Subdirección de Investigación Médica, Instituto Nacional de Pediatría, Secretaría de Salud, Mexico City CP 04530, Mexico.
Papers in Europe PMC - 06Algara-Ramírez C1 paper · 2023
Facultad Mexicana de Medicina, Universidad la Salle, Mexico City CP 14070, Mexico.
Papers in Europe PMC - 07Alonso I1 paper · 2017
UnIGENe, Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, Porto, Portugal.
Papers in Europe PMC - 08Altun AN1 paper · 2024
Department of Pediatric Metabolic Disorders, Gazi University Faculty of Medicine, Ankara, Türkiye.
Papers in Europe PMC - 09Aravind L1 paper · 2022
National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, 20894, USA.
Papers in Europe PMC - 10Arcaro A1 paper · 2016
Dipartimento di Medicina e Scienze della Salute "V. Tiberio", Università del Molise, Campobasso 86100, Italy. alessia.arcaro@unimol.it.
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.
"Combined oxidative phosphorylation defect type 4" OR "COXPD4" OR "TUFM combined oxidative phosphorylation deficiency" OR "combined oxidative phosphorylation deficiency caused by mutation in TUFM" OR "combined oxidative phosphorylation deficiency type 4"
MeSH descriptor terms unioned into the query: Combined Oxidative Phosphorylation Deficiency 4
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Combined oxidative phosphorylation defect type 4" OR "COXPD4" OR "TUFM combined oxidative phosphorylation deficiency" OR "combined oxidative phosphorylation deficiency caused by mutation in TUFM" OR "combined oxidative phosphorylation deficiency type 4" OR "Combined Oxidative Phosphorylation Deficiency 4" OR "TUFM" OR "combined oxidative phosphorylation deficiency" OR "mitochondrial oxidative phosphorylation disorder"
Recall-expansion terms: TUFM, combined oxidative phosphorylation deficiency, mitochondrial oxidative phosphorylation disorder
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
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 2026-07-27T11:09:44.240Z