ORPHA:1460
Isolated complex III deficiency
Also known as: Isolated CoQ-cytochrome C reductase deficiency · Isolated coenzyme Q-cytochrome C reductase deficiency · Isolated mitochondrial respiratory chain complex III deficiency · Isolated ubiquinone-cytochrome C reductase deficiency
Publications
57
37.1th percentile
Trials
0
Interventional, condition-specific
Researchers
473
Distinct authors in sample
Gene link
—
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Isolated complex III deficiency is a rare, genetic, oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated or transient hepatopathy to severe multisystem disorder (that may include , , psychomotor delay, , , renal tubulopathy, hearing impairment, lactic , and other signs and symptoms).
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:0015448
- UMLS:C1852372
Additional Mondo synonyms (5)
isolated CoQ-cytochrome C reductase deficiency · isolated coenzyme Q-cytochrome C reductase deficiency · isolated mitochondrial respiratory chain complex III deficiency · isolated ubiquinone-cytochrome C reductase deficiency · mitochondrial respiratory chain complex III 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
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
57 matched papers (22 in last 10 years) Source
- Phenotype characterisedPresent
284 HPO annotations (e.g. Decreased activity of mitochondrial complex III; Diarrhea; Decreased liver function) Source
- Animal modelPresent
1 genotype model (Mus musculus) Source
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
284
Associated phenotypes · MONDO:0015448
- Decreased activity of mitochondrial complex III
- Diarrhea
- Decreased liver function
- Elevated circulating alkaline phosphatase concentration
Showing 4 of 284 — open Monarch for the full list.
Animal models (Monarch / Alliance)
1
Model associations linked to this Mondo ID
- Bcs1ltm1.1Levp/Bcs1ltm1.1Levp [background:] B6.129-Bcs1ltm1.1Levp·MGI:6387277·Mus musculus
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?
57
57 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=3967) is 59.
57 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).
22 in the last 10 years · high confidence · 37.1th percentile (publications denominator)
Phrase hits: 57 · MeSH hits: 0
Who's working on it?
473
Distinct author names in 57 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.
- 01Taylor RW5 papers · 2017
Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UK.
Papers in Europe PMC - 02Hirano M3 papers · 2024
H. Houston Merritt Neuromuscular Research Center, Department of Neurology, Columbia University Irving Medical Center, New York, NY 10033, USA.
Papers in Europe PMC - 03Hock DH3 papers · 2024
Department of Biochemistry and Molecular Biology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, Victoria, Australia.
Papers in Europe PMC - 04Ma YY3 papers · 2015
Department of Pediatrics, Chinese Liberation Army General Hospital, Beijing, China.
Papers in Europe PMC - 05Murayama K3 papers · 2024
Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, Chiba 260-0842, Japan.
Papers in Europe PMC - 06Prokisch H3 papers · 2024
School of Medicine, Institute of Human Genetics, Technical University of Munich, Munich, 80333 Germany.
Papers in Europe PMC - 07Stroud DA3 papers · 2024
Department of Biochemistry and Molecular Biology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, Victoria, Australia. Electronic address: david.stroud@unimelb.edu.au.
Papers in Europe PMC - 08Thorburn DR3 papers · 2020
Brain and Mitochondrial Research, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia; Mitochondrial Laboratory, Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Victoria, Australia.
Papers in Europe PMC - 09Turnbull DM3 papers · 2017
Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UK.
Papers in Europe PMC - 10Compton AG2 papers · 2020
Brain and Mitochondrial Research, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
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 3 · after dedupe 3 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 3 · 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).
Uncertain / not reviewed (3)
- isrctn·ISRCTN56596656·Not yet recruiting·Combination antifungal therapy for candida bloodstream infections
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN92114384·Recruiting·PROthrombin complex concentrate versus fresh frozen Plasma for bleeding in adults undergoing HEart SurgerY (PROPHESY-2 trial)
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN99754654·No longer recruiting·Analysis of geNe Expression and bioMarkers fOr poiNt-of-care dEcision support in Sepsis
skipped — LLM skipped (--skip-llm)
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 Isolated complex III deficiency — check Associations / patient organisations on that page.
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.
"Isolated complex III deficiency" OR "Isolated CoQ-cytochrome C reductase deficiency" OR "Isolated coenzyme Q-cytochrome C reductase deficiency" OR "Isolated mitochondrial respiratory chain complex III deficiency" OR "Isolated ubiquinone-cytochrome C reductase deficiency" OR "mitochondrial respiratory chain complex III deficiency"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Isolated complex III deficiency" OR "Isolated CoQ-cytochrome C reductase deficiency" OR "Isolated coenzyme Q-cytochrome C reductase deficiency" OR "Isolated mitochondrial respiratory chain complex III deficiency" OR "Isolated ubiquinone-cytochrome C reductase deficiency" OR "mitochondrial respiratory chain complex III deficiency"
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 2026-07-26T17:27:24.757Z