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ORPHA:65285

Lhermitte-Duclos disease

low confidenceSubtype of disorder

Also known as: Dysplastic gangliocytoma of the cerebellum · LDD

Publications

933

Trials

1

Interventional, condition-specific

Researchers

1,119

Distinct authors in sample

Gene link

PTEN

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare developmental defect during embryogenesis characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure. The tumors can be characterized by the abnormal growth of ganglion cells that regulate activities in the cerebellum.

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 (3)

dysplastic cerebellar gangliocytoma · dysplastic gangliocytoma of cerebellum · dysplastic gangliocytoma of the cerebellum

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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — PTEN

  2. LiteraturePresent

    933 matched papers (403 in last 10 years) Source

  3. Phenotype characterisedPresent

    18 HPO annotations (e.g. Macroglossia; Macrocephaly; Hand polydactyly) 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 trialPresent

    1 matched on ClinicalTrials.gov (1 recruiting in sample)

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 (PTEN).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

18

Associated phenotypes · MONDO:0019002

  • Macroglossia
  • Macrocephaly
  • Hand polydactyly
  • Nausea and vomiting
  • Fibroadenoma of the breast

Showing 5 of 18 — 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 2026-07-27

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?

933

933 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.

933 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).

403 in the last 10 years · low confidence

Phrase hits: 933 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,119

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Baitamouni S3 papers · 2025

    Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, 44195, USA.

    Papers in Europe PMC
  2. 02
    Dhamija R3 papers · 2020

    Departments of Clinical Genomics (RD), Neurology (RD, ABP), and Radiology (Division of Neuroradiology) (LSH, JMH), Mayo Clinic, Phoenix, AZ; Department of Radiology (Division of Neuroradiology) (SMW), Mayo Clinic, Jacksonville, FL; and Department of Radiology (Division of Neuroradiology) (CPW), Mayo Clinic, Rochester, MN.

    Papers in Europe PMC
  3. 03
    Dhawan A3 papers · 2025

    Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, 44195, USA.

    Papers in Europe PMC
  4. 04
    Eng C3 papers · 2025

    Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, 44195, USA.

    Papers in Europe PMC
  5. 05
    Hoxworth JM3 papers · 2020

    Division of Neuroradiology, Department of Radiology, Mayo Clinic, Phoenix, AZ.

    Papers in Europe PMC
  6. 06
    Liu D3 papers · 2025

    Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, 44195, USA.

    Papers in Europe PMC
  7. 07
    Mueller S3 papers · 2025

    Department of Neurological Surgery, University of California, San Francisco, California, USA.

    Papers in Europe PMC
  8. 08
    Pfister SM3 papers · 2025

    Hopp Children's Cancer Center Heidelberg (KiTZ) and Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ), German Consortium for Translational Cancer Research (DKTK), Heidelberg, Germany.

    Papers in Europe PMC
  9. 09
    Rudà R3 papers · 2025

    Division of Neurology, Castelfranco Veneto and Treviso Hospitals, 31033 Treviso, Italy.

    Papers in Europe PMC
  10. 10
    Yang X3 papers · 2025

    Department of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, UT 84112, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; 1 currently recruiting in our sample.

Data as of 9 September 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

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 2026-07-27

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 Lhermitte-Duclos disease — 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.

"Lhermitte-Duclos disease" OR "Dysplastic gangliocytoma of the cerebellum" OR "dysplastic cerebellar gangliocytoma" OR "dysplastic gangliocytoma of cerebellum"

Run this search on Europe PMC

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

"Lhermitte-Duclos disease" OR "Dysplastic gangliocytoma of the cerebellum" OR "Dysplastic gangliocytoma of cerebellum" OR "dysplastic cerebellar gangliocytoma"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 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

Synonyms dropped by stoplist: LDD

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (933) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T02:29:06.514Z