ORPHA:319509
Combined oxidative phosphorylation defect type 9
Also known as: COXPD9
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Clinical definition (Orphanet)
Combined oxidative phosphorylation defect type 9 is a rare disease due to a defect in protein synthesis characterized by initially normal growth and development followed by the -onset of , psychomotor delay, poor feeding, dyspnea, severe hypertrophic and . Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of respiratory chain complexes I, III, IV, and V.
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.
Is anyone studying this?
6
6 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=183) is 38.
6 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
5 in the last 10 years · high confidence · 22.4th percentile (publications denominator)
Is a treatment being tested?
0
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 26 July 2026
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
high confidence · 29.6th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (MRPL3).
GenCC classification: Strong.
Who's working on it?
29
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.
- 01Alsharhan H1 paper · 2021
Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Papers in Europe PMC - 02Ascano M1 paper · 2014Papers in Europe PMC
- 03Bursle C1 paper · 2017
Neuroscience Department, The Lady Cilento Children's Hospital, Brisbane, QLD, Australia.
Papers in Europe PMC - 04
- 05Chen S1 paper · 2022
Cord Blood Bank Centre, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangzhou 510180, China.
Papers in Europe PMC - 06Chiang Z1 paper · 2022
Department of Allied Health Science Faculty of Science, Tunku Abdul Rahman University, Ipoh 31900, Malaysia.
Papers in Europe PMC - 07Chuk R1 paper · 2017
Department of Paediatrics, The Wesley Hospital, 40 Chasley Street, Auchenflower, 4068, Brisbane, QLD, Australia.
Papers in Europe PMC - 08Coman D1 paper · 2017
Neuroscience Department, The Lady Cilento Children's Hospital, Brisbane, QLD, Australia. enquiries@drdavidcoman.com.au.
Papers in Europe PMC - 09Duan F1 paper · 2022
Cord Blood Bank Centre, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangzhou 510180, China.
Papers in Europe PMC - 10Ganetzky RD1 paper · 2021
Division of Human Genetics, Section of Biochemical Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment 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 above — 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 below but are not added to the query string.
"Combined oxidative phosphorylation defect type 9" OR "COXPD9" OR "MRPL3 combined oxidative phosphorylation deficiency" OR "combined oxidative phosphorylation deficiency caused by mutation in MRPL3" OR "combined oxidative phosphorylation deficiency type 9"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Combined oxidative phosphorylation defect type 9" OR "COXPD9" OR "MRPL3 combined oxidative phosphorylation deficiency" OR "combined oxidative phosphorylation deficiency caused by mutation in MRPL3" OR "combined oxidative phosphorylation deficiency type 9" OR "MRPL3" OR "combined oxidative phosphorylation deficiency" OR "mitochondrial oxidative phosphorylation disorder"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): OMIM:614582 UMLS:C4706315
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