ORPHA:255229
Navajo neurohepatopathy
Also known as: Navajo neuropathy
Publications
103
54.3th percentile
Trials
0
Interventional, condition-specific
Researchers
622
Distinct authors in sample
Gene link
MPV17
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, life-threatening, DNA depletion syndrome disease characterized by severe, sensorimotor associated with corneal ulceration, scarring or anesthesia, acral mutilation, and immunologic derangement, and hepatopathy (which can manifest with fulminant hepatic failure, a Reye-like syndrome or indolent progression to liver cirrhosis, depending on clinical form involved), present in the Navajo Native American population. Clinical presentation includes , distal limb weakness with reduced sensation, limb contractures with loss of function, areflexia, recurrent with intercurrent illness, immunologic anomalies manifesting with severe systemic infections, and sexual infantilism.
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:0009747
- MeSH:C538344
- OMIM:256810
- UMLS:C1850406
Additional Mondo synonyms (1)
mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
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 — MPV17
- LiteraturePresent
103 matched papers (53 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 (MPV17).
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?
103
103 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=5449) is 41.
103 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).
53 in the last 10 years · high confidence · 54.3th percentile (publications denominator)
Phrase hits: 103 · MeSH hits: 3
Who's working on it?
622
Distinct author names in 103 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.
- 01Sokol RJ8 papers · 2023
University of Colorado School of Medicine, Children's Hospital Colorado, Aurora, Colorado, USA.
Papers in Europe PMC - 02Zeviani M8 papers · 2023
MRC-Mitochondrial Biology Unit, MRC MBU, Wellcome Trust/MRC Building, Hills Road, Cambridge, CB2 0XY, UK. mdz21@mrc-mbu.cam.ac.uk.
Papers in Europe PMC - 03Hirano M7 papers · 2013Papers in Europe PMC
- 04Dimauro S6 papers · 2019
Department of Neurology, Columbia University Medical Center, 3-313 Russ Berrie Medical Science Pavilion, New York, NY 10032, USA. sd12@columbia.edu
Papers in Europe PMC - 05Viscomi C6 papers · 2023
Unit of Molecular Neurogenetics - Pierfranco and Luisa Mariani Center for the Study of Mitochondrial Disorders in Children, IRCCS Foundation Neurological Institute C. Besta, Milan, Italy.
Papers in Europe PMC - 06El-Hattab AW5 papers · 2022
Department of Clinical Sciences, College of Medicine, University of Sharjah, Sharjah P.O. Box 27272, United Arab Emirates.
Papers in Europe PMC - 07Murayama K4 papers · 2022
Department of Metabolism, Chiba Children's Hospital, Chiba, Japan.
Papers in Europe PMC - 08Almannai M3 papers · 2022
Genetics and Precision Medicine Department, King Abdullah Specialized Children Hospital, Riyadh P.O. Box 22490, Saudi Arabia.
Papers in Europe PMC - 09Baruffini E3 papers · 2023
Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parco Area delle Scienze 11/A, 43124 Parma, Italy.
Papers in Europe PMC - 10Copeland WC3 papers · 2025
Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, Research Triangle Park, North Carolina 27709, USA. copelan1@niehs.nih.gov
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.
"Navajo neurohepatopathy" OR "Navajo neuropathy" OR "mitochondrial DNA depletion syndrome 6 (hepatocerebral type)"
MeSH descriptor terms unioned into the query: Navajo neurohepatopathy
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Navajo neurohepatopathy" OR "Navajo neuropathy" OR "mitochondrial DNA depletion syndrome 6 (hepatocerebral type)" OR "MPV17"
Recall-expansion terms: MPV17
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
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 2026-07-27T11:11:11.510Z