ORPHA:477774
Combined oxidative phosphorylation defect type 27
Also known as: COXPD27
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
18
35.6th percentile
Trials
0
Interventional, condition-specific
Researchers
130
Distinct authors in sample
Gene link
CARS2
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare oxidative phosphorylation disorder characterized by a variable clinical including onset of epileptic , , global , , complex movement disorder, and liver involvement, as well as childhood onset of severe myoclonus , cognitive decline, hearing and visual impairment, and tetraparesis. Serum lactate may be increased, and brain imaging shows variable atrophy and white matter abnormalities.
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:0014728
- OMIM:616672
- UMLS:C5567608
Additional Mondo synonyms (4)
CARS2 combined oxidative phosphorylation deficiency · combined oxidative phosphorylation deficiency 27 · combined oxidative phosphorylation deficiency caused by mutation in CARS2 · combined oxidative phosphorylation deficiency type 27
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 — CARS2
- LiteraturePresent
18 matched papers (18 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 (CARS2).
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?
18
18 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.
18 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).
18 in the last 10 years · high confidence · 35.6th percentile (publications denominator)
Phrase hits: 18 · MeSH hits: 0
Who's working on it?
130
Distinct author names in 18 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.
- 01Abdelhak S1 paper · 2021
Biomedical Genomics and Oncogenetics Laboratory (LR16IPT05), Institut Pasteur de Tunis, Tunis, Tunisia.
Papers in Europe PMC - 02Abdulkareem AA1 paper · 2023
Department of Biochemistry, Faculty of Science, King Abdulaziz University, Jeddah, Saudi Arabia.
Papers in Europe PMC - 03Abou Jamra R1 paper · 2022
Institute of Human Genetics, University of Leipzig Medical Center, Philipp-Rosenthal-Straße 55, 04103 Leipzig, Germany.
Papers in Europe PMC - 04Aguilar K1 paper · 2021
Department of Pediatrics, Hospital Materno Infantil ISSEMyM, Toluca, Mexico.
Papers in Europe PMC - 05Ahmad M1 paper · 2023
Department of Zoology, Government Postgraduate College Dargai, Malakand, Khyber Pakhtunkhwa, Pakistan.
Papers in Europe PMC - 06Almubarak A1 paper · 2022
Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada.
Papers in Europe PMC - 07Anand A1 paper · 2021
Neurology Division, Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, India.
Papers in Europe PMC - 08Antonellis A1 paper · 2017
Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, United States; Cellular and Molecular Biology Program, University of Michigan Medical School, Ann Arbor, MI, United States. Electronic address: antonell@umich.edu.
Papers in Europe PMC - 09Babaya N1 paper · 2018
Department of Endocrinology, Metabolism and Diabetes, Kindai University Faculty of Medicine, Osaka-sayama, Osaka, Japan.
Papers in Europe PMC - 10Baruffini E1 paper · 2021
Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parco Area delle Scienze 11/A, 43124 Parma, 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.
"Combined oxidative phosphorylation defect type 27" OR "COXPD27" OR "CARS2 combined oxidative phosphorylation deficiency" OR "combined oxidative phosphorylation deficiency 27" OR "combined oxidative phosphorylation deficiency caused by mutation in CARS2" OR "combined oxidative phosphorylation deficiency type 27"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Combined oxidative phosphorylation defect type 27" OR "COXPD27" OR "CARS2 combined oxidative phosphorylation deficiency" OR "combined oxidative phosphorylation deficiency 27" OR "combined oxidative phosphorylation deficiency caused by mutation in CARS2" OR "combined oxidative phosphorylation deficiency type 27" OR "CARS2" OR "combined oxidative phosphorylation deficiency" OR "mitochondrial oxidative phosphorylation disorder"
Recall-expansion terms: CARS2, 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, 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 2026-07-27T17:08:48.379Z