RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:90020

Parkinson-dementia complex of Guam

low confidenceDisorder

Also known as: G-PDC · Guam disease · Guam parkinsonism-dementia complex · Lytico-Bodig disease

Publications

5,208

Trials

0

Interventional, condition-specific

Researchers

1,061

Distinct authors in sample

Gene link

TRPM7

Limited

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare neurodegenerative disease characterized by extrapyramidal symptoms (rigidity, tremor, bradykinesia) and dementia, typically beginning in the fifth or sixth decade of life and progressing to a vegetative state with pelvicrural flexion contractures within few years. Oculomotor signs, olfactory dysfunction, and autonomic disturbances may also be observed. Neuropathological hallmarks are frontotemporally accentuated cerebral atrophy, as well as neurofibrillary tangles and neuronal loss in a characteristic distribution in cortical and subcortical regions. The disease is endemic to the Pacific island of Guam.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

Lytigo-Bodig disease · amyotrophic lateral sclerosis-Parkinsonism/dementia Complex type 1

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

    Limited — TRPM7

  2. LiteraturePresent

    5,208 matched papers (3,594 in last 10 years) Source

  3. Phenotype characterisedPresent

    11 HPO annotations (e.g. Abnormal lower motor neuron morphology; Cerebral atrophy; 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?

Possibly — only limited evidence so far for TRPM7.

GenCC classification: Limited.

Phenotypes (Monarch / HPO)

11

Associated phenotypes · MONDO:0007104

  • Abnormal lower motor neuron morphology
  • Cerebral atrophy
  • Parkinsonism
  • Bulbar palsy
  • Dementia

Showing 5 of 11 — 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)

1 associated chemical · 6 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • beta-N-methylamino-L-alanine · marker/mechanism

Pathways: NOD-like receptor signaling pathway; Mineral absorption; Stimuli-sensing channels; TRP channels; Transmembrane transport of small molecules; Ion channel transport

MyDisease.info · MONDO:0007104

Literature

Is anyone studying this?

5,208

5,208 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

5,208 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).

3,594 in the last 10 years · low confidence

Phrase hits: 272 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,061

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
    Iqbal K10 papers · 2018

    From the Department of Neurochemistry, Inge Grundke-Iqbal Research Floor, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York 10314 khalid.iqbal.ibr@gmail.com.

    Papers in Europe PMC
  2. 02
    Grundke-Iqbal I8 papers · 2014

    From the Department of Neurochemistry, Inge Grundke-Iqbal Research Floor, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York 10314.

    Papers in Europe PMC
  3. 03
    McGeer PL7 papers · 2009

    Kinsmen Laboratory of Neurological Research, University of British Columbia, Vancouver, Canada. mcgeerpl@interchange.ubc.ca

    Papers in Europe PMC
  4. 04
    Trojanowski JQ7 papers · 2015
    Papers in Europe PMC
  5. 05
    Dickson DW6 papers · 2021

    Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA. dickson.dennis@mayo.edu

    Papers in Europe PMC
  6. 06
    Lee VM6 papers · 2011
    Papers in Europe PMC
  7. 07
    Perl DP6 papers · 2010
    Papers in Europe PMC
  8. 08
    Steele JC6 papers · 2025
    Papers in Europe PMC
  9. 09
    Chen X5 papers · 2026

    Department of Neurology, West China Hospital, Sichuan University, Chengdu, China.

    Papers in Europe PMC
  10. 10
    Liu F5 papers · 2018

    From the Department of Neurochemistry, Inge Grundke-Iqbal Research Floor, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York 10314.

    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 Parkinson-dementia complex of Guam — 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.

("Parkinson-dementia complex of Guam" OR "Parkinson-dementia complex of the Guam" OR "G-PDC" OR "Guam disease" OR "Guam parkinsonism-dementia complex" OR "Lytico-Bodig disease" OR "Lytigo-Bodig disease" OR "amyotrophic lateral sclerosis-Parkinsonism/dementia Complex type 1") OR ("TRPM7" OR "TRPM7 syndrome" OR "TRPM7-related")

Run this search on Europe PMC

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

"Parkinson-dementia complex of Guam" OR "Parkinson-dementia complex of the Guam" OR "G-PDC" OR "Guam disease" OR "Guam parkinsonism-dementia complex" OR "Lytico-Bodig disease" OR "Lytigo-Bodig disease" OR "amyotrophic lateral sclerosis-Parkinsonism/dementia Complex type 1"

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 (5208) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T03:29:20.422Z