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ORPHA:306682

Manganese poisoning

low confidenceDisorder

Also known as: Manganese intoxication · Manganism

Publications

2,733

Trials

0

Interventional, condition-specific

Researchers

1,006

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare disorder due to toxic effects characterized by a , permanent affliction of the extrapyramidal system with the globus pallidus and striatum as primary targets of neurotoxic effects. Symptoms include headache, insomnia, memory loss, emotional instability, hyperreflexia, dystonia, tremor, speech disturbances, and gait abnormalities. Individual factors like age, gender, genetics, and pre-existing medical conditions appear to have a profound impact on manganese toxicity.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

manganese intoxication

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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    2,733 matched papers (897 in last 10 years) Source

  3. Phenotype characterisedPresent

    30 HPO annotations (e.g. Hypertonia; Postural instability; Postural tremor) Source

  4. Animal modelNot found

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

  5. Orphan designationPresent

    1 FDA designation (1 FDA orphan-indication approval) — e.g. trientine hydrochloride Source

  6. Interventional trialPartial

    None under the specific name; 123 for broader category poisoning

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)

30

Associated phenotypes · MONDO:0017638

  • Hypertonia
  • Postural instability
  • Postural tremor
  • Abnormal globus pallidus morphology
  • Visual impairment

Showing 5 of 30 — 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)

1

Designation · 1 with FDA orphan-indication approval

  • FDA trientine hydrochlorideManganism · 2010-11-02 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

17 associated chemicals · 138 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Antioxidants · therapeutic
  • Ascorbic Acid · therapeutic
  • Estradiol · therapeutic
  • Lactic Acid · therapeutic
  • Levodopa · therapeutic
  • Riluzole · therapeutic
  • Silymarin · therapeutic
  • Tamoxifen · therapeutic
  • Dopamine · marker/mechanism
  • gamma-Aminobutyric Acid · marker/mechanism
  • Iron · marker/mechanism
  • Manganese · marker/mechanism

Pathways: Arginine biosynthesis; Arginine and proline metabolism; Metabolism of xenobiotics by cytochrome P450; Drug metabolism - cytochrome P450; Metabolic pathways; Endocrine resistance; Antifolate resistance; Platinum drug resistance

MyDisease.info · MONDO:0017638

Literature

Is anyone studying this?

2,733

2,733 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.

2,733 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).

897 in the last 10 years · low confidence

Phrase hits: 2,733 · MeSH hits: 12

Open Europe PMC search

Who's working on it?

1,006

Distinct author names in 200 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
    Aschner M19 papers · 2025

    Department of Molecular Pharmacology, Albert Einstein College of Medicine, NY, USA.

    Papers in Europe PMC
  2. 02
    Digman A9 papers · 2025

    Department of Pharmaceutical Science, College of Pharmacy and Pharmaceutical Sciences, Florida A&M University, Tallahassee, FL 32307, USA.

    Papers in Europe PMC
  3. 03
    Lee E9 papers · 2025

    Department of Pharmaceutical Science, College of Pharmacy and Pharmaceutical Sciences, Florida A&M University, Tallahassee, FL 32307, USA. Electronic address: eunsook.lee@famu.edu.

    Papers in Europe PMC
  4. 04
    Pajarillo E9 papers · 2025

    Department of Pharmaceutical Science, College of Pharmacy and Pharmaceutical Sciences, Florida A&M University, Tallahassee, FL 32307, USA.

    Papers in Europe PMC
  5. 05
    Ajayi I8 papers · 2025

    Department of Pharmaceutical Science, College of Pharmacy and Pharmaceutical Sciences, Florida A&M University, Tallahassee, FL 32307, USA.

    Papers in Europe PMC
  6. 06
    Kim S8 papers · 2025

    Department of Pharmaceutical Science, College of Pharmacy and Pharmaceutical Sciences, Florida A&M University, Tallahassee, FL 32307, USA.

    Papers in Europe PMC
  7. 07
    Li J8 papers · 2025

    Department of Environmental Health, School of Public Health, China Medical University, Shenyang, Liaoning, People's Republic of China.

    Papers in Europe PMC
  8. 08
    Son DS8 papers · 2025

    Department of Biochemistry, Cancer Biology, Neuroscience and Pharmacology, Meharry Medical College, Nashville, TN 37208, USA.

    Papers in Europe PMC
  9. 09
    Li Y7 papers · 2025

    Department of Toxicology, School of Public Health, Guangxi Medical University, 22 Shuang-yong Rd., Nanning, 530021, Guangxi, China.

    Papers in Europe PMC
  10. 10
    Deng Y6 papers · 2025

    Department of Environmental Health, School of Public Health, China Medical University, People's Republic of China.

    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). 123 trials are registered for poisoning, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

123 interventional trials matched poisoning, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: poisoning

123

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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 Manganese poisoning — 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.

"Manganese poisoning" OR "Manganese intoxication" OR "Manganism"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Manganese Poisoning

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Manganese poisoning" OR "Manganese intoxication" OR "Manganism"

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

Parent-category trials query:

"poisoning"

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 (2733) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T12:49:45.906Z