ORPHA:279934
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
Publications
1,110
Trials
0
Interventional, condition-specific
Researchers
264
Distinct authors in sample
Gene link
DGUOK
Definitive
Readiness
4/6
Stages with a signal
Clinical definition (Orphanet)
A rare immune disease characterized by severely reduced DNA content due to DGUOK deficiency typically manifesting with early-onset liver dysfunction, psychomotor delay, , rotary nystagmus that develops into opsoclonus, lactic and .
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.
Additional Mondo synonyms (5)
DGUOK mitochondrial DNA depletion syndrome · mitochondrial DNA depletion syndrome 3 · mitochondrial DNA depletion syndrome 3 (hepatocerebral type) · mitochondrial DNA depletion syndrome caused by mutation in DGUOK · mitochondrial DNA depletion syndrome type 3
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.”
4/6 stages with a signal
No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.
- Gene identifiedPresent
Definitive — DGUOK
- LiteraturePresent
1,110 matched papers (705 in last 10 years) Source
- Phenotype characterisedPresent
36 HPO annotations (e.g. Ascites; Vomiting; Decreased activity of mitochondrial complex III) 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?
Yes — we know a specific gene responsible (DGUOK).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
36
Associated phenotypes · MONDO:0009636
- Ascites
- Vomiting
- Decreased activity of mitochondrial complex III
- Abnormal conjugate eye movement
- Micronodular cirrhosis
Showing 5 of 36 — open Monarch for the full list.
Animal models (Monarch / Alliance)
1
Model associations linked to this Mondo ID
- Mpv17/Mpv17 [background:] CFW-Mpv17/J·MGI:3624035·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?
1,110
1,110 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
1,110 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).
705 in the last 10 years · low confidence
Phrase hits: 33 · MeSH hits: 0
Who's working on it?
264
Distinct author names in 33 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.
- 01Corbett JL3 papers · 2020
Department of Regenerative Medicine and Cell Biology, Medical University of South Carolina, Charleston, SC, United States.
Papers in Europe PMC - 02Duncan SA3 papers · 2020
Department of Regenerative Medicine and Cell Biology, Medical University of South Carolina, Charleston, SC, United States.
Papers in Europe PMC - 03Al-Thihli K2 papers · 2022
Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman.
Papers in Europe PMC - 04
- 05Saxena R2 papers · 2024
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
Papers in Europe PMC - 06Wei X2 papers · 2023
BGI-Wuhan Clinical Laboratory, BGI-Shenzhen, 430074, Wuhan, China. weixm@bgi.com.
Papers in Europe PMC - 07
- 08
- 09Agarwal S1 paper · 2026
Department of Solid Organ Transplantation and HPB Surgery, Amrita School of Medicine, Amrita Vishwa Vidyapeetham, Faridabad, India.
Papers in Europe PMC - 10Agrawal PB1 paper · 2020
Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA. pankaj.agrawal@childrens.harvard.edu.
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.
low 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.
Broader category mitochondrial DNA depletion syndrome, hepatocerebral form also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: mitochondrial DNA depletion syndrome, hepatocerebral form
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30
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).
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 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK 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.
("Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency" OR "DGUOK mitochondrial DNA depletion syndrome" OR "mitochondrial DNA depletion syndrome 3" OR "mitochondrial DNA depletion syndrome 3 (hepatocerebral type)" OR "mitochondrial DNA depletion syndrome caused by mutation in DGUOK" OR "mitochondrial DNA depletion syndrome type 3") OR ("DGUOK" OR "DGUOK syndrome" OR "DGUOK-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency" OR "DGUOK mitochondrial DNA depletion syndrome" OR "mitochondrial DNA depletion syndrome 3" OR "mitochondrial DNA depletion syndrome 3 (hepatocerebral type)" OR "mitochondrial DNA depletion syndrome caused by mutation in DGUOK" OR "mitochondrial DNA depletion syndrome type 3"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"mitochondrial DNA depletion syndrome, hepatocerebral form"
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
- Publication count (1110) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T11:48:32.844Z