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ORPHA:255229

Navajo neurohepatopathy

low confidenceDisorder

Also known as: Navajo neuropathy

Publications

1,204

Trials

0

Interventional, condition-specific

Researchers

622

Distinct authors in sample

Gene link

MPV17

Definitive

Readiness

3/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

3/6 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.

  1. Gene identifiedPresent

    Definitive — MPV17

  2. LiteraturePresent

    1,204 matched papers (807 in last 10 years) Source

  3. Phenotype characterisedPresent

    182 HPO annotations (e.g. Mitochondrial depletion; Distal sensory impairment; Diffuse leukoencephalopathy) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

182

Associated phenotypes · MONDO:0009747

  • Mitochondrial depletion
  • Distal sensory impairment
  • Diffuse leukoencephalopathy
  • Increased susceptibility to fractures
  • Constipation

Showing 5 of 182 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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?

1,204

1,204 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.

1,204 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).

807 in the last 10 years · low confidence

Phrase hits: 103 · MeSH hits: 3

Open Europe PMC search

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.

  1. 01
    Sokol RJ8 papers · 2023

    University of Colorado School of Medicine, Children's Hospital Colorado, Aurora, Colorado, USA.

    Papers in Europe PMC
  2. 02
    Zeviani 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
  3. 03
    Hirano M7 papers · 2013
    Papers in Europe PMC
  4. 04
    Dimauro 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
  5. 05
    Viscomi 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
  6. 06
    El-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
  7. 07
    Murayama K4 papers · 2022

    Department of Metabolism, Chiba Children's Hospital, Chiba, Japan.

    Papers in Europe PMC
  8. 08
    Almannai M3 papers · 2022

    Genetics and Precision Medicine Department, King Abdullah Specialized Children Hospital, Riyadh P.O. Box 22490, Saudi Arabia.

    Papers in Europe PMC
  9. 09
    Baruffini 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
  10. 10
    Copeland 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 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.

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 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 Navajo neurohepatopathy — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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)") OR (MESH:"Navajo neurohepatopathy") OR ("MPV17" OR "MPV17 syndrome" OR "MPV17-related")

Run this search on Europe PMC

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)"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh; 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
  • Publication count (1204) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T11:11:11.510Z