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ORPHA:521406

Dystonia-parkinsonism-hypermanganesemia syndrome

low confidenceDisorder

Publications

1,664

Trials

0

Interventional, condition-specific

Researchers

317

Distinct authors in sample

Gene link

SLC39A14

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare disorder of manganese transport characterized by movement disorder and elevated blood manganese levels. Patients present in infancy or early childhood with loss of motor milestones, rapidly dystonia, spasticity, bulbar dysfunction, and parkinsonism, resulting in loss of independent ambulation. Cognition may be impaired but is generally better preserved than motor function. Additional manifestations include abnormal head growth and skull deformities. Brain MRI shows abnormalities of the basal ganglia, variably also of other brain regions.

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 (6)

HMNDYT2 · SLC39A14 hypermanganesemia with dystonia · hypermanganesemia with dystonia 2 · hypermanganesemia with dystonia 2; HMNDYT2 · hypermanganesemia with dystonia caused by mutation in SLC39A14 · hypermanganesemia with dystonia type 2

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

    Strong — SLC39A14

  2. LiteraturePresent

    1,664 matched papers (1,377 in last 10 years) Source

  3. Phenotype characterisedPresent

    68 HPO annotations (e.g. Spasticity; Global developmental delay; Parkinsonism) 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 (SLC39A14).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

68

Associated phenotypes · MONDO:0014864

  • Spasticity
  • Global developmental delay
  • Parkinsonism
  • Dystonia
  • Babinski sign

Showing 5 of 68 — 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?

1,664

1,664 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.

1,664 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).

1,377 in the last 10 years · low confidence

Phrase hits: 48 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

317

Distinct author names in 48 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
    Tuschl K8 papers · 2025

    Department of Cell and Developmental Biology, University College London, London, United Kingdom.

    Papers in Europe PMC
  2. 02
    Garg D4 papers · 2025

    Department of Neurology Lady Hardinge Medical College and Associated Hospitals New Delhi India.

    Papers in Europe PMC
  3. 03
    Sharma S4 papers · 2025

    Department of Pediatrics (Neurology division) Lady Hardinge Medical College and Associated Hospitals New Delhi India.

    Papers in Europe PMC
  4. 04
    Aschner M2 papers · 2022

    Department of Molecular Pharmacology, Albert Einstein College of Medicine, Bronx, NY 10461, USA.

    Papers in Europe PMC
  5. 05
    Bianco IH2 papers · 2022

    Department of Neuroscience, Physiology & Pharmacology, University College London, Gower Street, London WC1E 6BT, UK.

    Papers in Europe PMC
  6. 06
    Bonifati V2 papers · 2025

    Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam The Netherlands.

    Papers in Europe PMC
  7. 07
    Busch-Nentwich EM2 papers · 2022

    School of Biological and Behavioural Sciences, Faculty of Science and Engineering, Queen Mary University of London, London E1 4NS, UK.

    Papers in Europe PMC
  8. 08
    Clayton PT2 papers · 2025

    Department of Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, UK.

    Papers in Europe PMC
  9. 09
    Dadswell C2 papers · 2025

    School of Life Sciences, University of Sussex, Brighton, UK.

    Papers in Europe PMC
  10. 10
    Dale RC2 papers · 2025

    Kids Neuroscience Centre, The Children's Hospital at Westmead, Westmead, NSW 2145, Australia.

    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 Dystonia-parkinsonism-hypermanganesemia syndrome — 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.

("Dystonia-parkinsonism-hypermanganesemia syndrome" OR "HMNDYT2" OR "SLC39A14 hypermanganesemia with dystonia" OR "hypermanganesemia with dystonia 2" OR "hypermanganesemia with dystonia 2; HMNDYT2" OR "hypermanganesemia with dystonia caused by mutation in SLC39A14" OR "hypermanganesemia with dystonia type 2") OR ("SLC39A14" OR "SLC39A14 syndrome" OR "SLC39A14-related")

Run this search on Europe PMC

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

"Dystonia-parkinsonism-hypermanganesemia syndrome" OR "HMNDYT2" OR "SLC39A14 hypermanganesemia with dystonia" OR "hypermanganesemia with dystonia 2" OR "hypermanganesemia with dystonia 2; HMNDYT2" OR "hypermanganesemia with dystonia caused by mutation in SLC39A14" OR "hypermanganesemia with dystonia type 2"

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

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 (1664) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T18:02:46.768Z