ORPHA:319514
Combined oxidative phosphorylation defect type 13
Also known as: COXPD13
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
10
24.9th percentile
Trials
0
Interventional, condition-specific
Researchers
82
Distinct authors in sample
Gene link
PNPT1
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Combined oxidative phosphorylation defect type 13 is a rare disease due to a defect in protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) , motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesias) and reduced tendon reflexes. The disease course is severe but nonprogressive.
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:0013977
- OMIM:614932
- UMLS:C4706283
Additional Mondo synonyms (3)
PNPT1 combined oxidative phosphorylation deficiency · combined oxidative phosphorylation deficiency caused by mutation in PNPT1 · combined oxidative phosphorylation deficiency type 13
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
Definitive — PNPT1
- LiteraturePresent
10 matched papers (8 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 (PNPT1).
GenCC classification: Definitive.
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?
10
10 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.
10 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).
8 in the last 10 years · high confidence · 24.9th percentile (publications denominator)
Phrase hits: 10 · MeSH hits: 0
Who's working on it?
82
Distinct author names in 10 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.
- 01Diogo L2 papers · 2023
Metabolic Unit, Pediatric Hospital, Coimbra Hospital and University Center, Coimbra, Portugal.
Papers in Europe PMC - 02Ascano M1 paper · 2014Papers in Europe PMC
- 03Azabou E1 paper · 2022
Clinical Neurophysiology and Neuromodulation Unit, Raymond Poincaré Hospital, Assistance Publique -Hôpitaux de Paris, Garches, France. eric.azabou@aphp.fr.
Papers in Europe PMC - 04Badia BML1 paper · 2024
Division of Neuromuscular Diseases, Neurometabolic Unit, Division of Neuromuscular Diseases, Federal University of São Paulo (UNIFESP), São Paulo 04039-060, SP, Brazil.
Papers in Europe PMC - 05Bakshi N1 paper · 2025
Biological and Chemical Research Centre (CNBCh), Faculty of Chemistry, University of Warsaw, Warsaw 02-089, Poland.
Papers in Europe PMC - 06Bandyra KJ1 paper · 2025
Biological and Chemical Research Centre (CNBCh), Faculty of Chemistry, University of Warsaw, Warsaw 02-089, Poland.
Papers in Europe PMC - 07Barbosa AR1 paper · 2024
Division of Neuromuscular Diseases, Neurometabolic Unit, Division of Neuromuscular Diseases, Federal University of São Paulo (UNIFESP), São Paulo 04039-060, SP, Brazil.
Papers in Europe PMC - 08Barbosa AS1 paper · 2024
Division of Neuromuscular Diseases, Neurometabolic Unit, Division of Neuromuscular Diseases, Federal University of São Paulo (UNIFESP), São Paulo 04039-060, SP, Brazil.
Papers in Europe PMC - 09Barbosa-Gouveia S1 paper · 2020
Diagnosis and Treatment of Congenital Metabolic Diseases Unit (UDyTEMC), Neonatology Division, Department of Pediatrics, Clinical University Hospital of Santiago de Compostela, IDIS-Health Research Institute of Santiago de Compostela, 15706 Santiago de Compostela, Spain.
Papers in Europe PMC - 10Ben Hadj Salem O1 paper · 2022
Medical Critical Care Unit, Cochin Hospital, Assistance Publique -Hôpitaux de Paris, Paris, France.
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 13" OR "COXPD13" OR "PNPT1 combined oxidative phosphorylation deficiency" OR "combined oxidative phosphorylation deficiency caused by mutation in PNPT1" OR "combined oxidative phosphorylation deficiency type 13"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Combined oxidative phosphorylation defect type 13" OR "COXPD13" OR "PNPT1 combined oxidative phosphorylation deficiency" OR "combined oxidative phosphorylation deficiency caused by mutation in PNPT1" OR "combined oxidative phosphorylation deficiency type 13" OR "PNPT1" OR "combined oxidative phosphorylation deficiency" OR "mitochondrial oxidative phosphorylation disorder"
Recall-expansion terms: PNPT1, 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 2026-07-27T13:28:32.105Z