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ORPHA:2149

Nodular neuronal heterotopia

low confidenceDisorder

Publications

1,859

Trials

2

Interventional, condition-specific

Researchers

1,363

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare non-syndromic cerebral due to abnormal neuronal migration characterized by clusters of disorganized neurons in abnormal locations such as periventricular and subcortical. The extent of the lesions ranges from isolated single to bilateral confluent nodules. Pediatric patients typically show variable degrees of , , and intractable , and concomitant cerebral and/or systemic malformations are frequent. Milder forms may present with onset of in adulthood.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

genetic nodular heterotopia · nodular heterotopia

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 identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    1,859 matched papers (1,121 in last 10 years) Source

  3. Phenotype characterisedPresent

    194 HPO annotations (e.g. Abnormal bleeding; Hernia; Patent ductus arteriosus) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationNot found

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

  6. Interventional trialPresent

    2 matched on ClinicalTrials.gov

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)

194

Associated phenotypes · MONDO:0016292

  • Abnormal bleeding
  • Hernia
  • Patent ductus arteriosus
  • Gastroesophageal reflux
  • Pyloric stenosis

Showing 5 of 194 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

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?

1,859

1,859 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.

1,859 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).

1,121 in the last 10 years · low confidence

Phrase hits: 1,859 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,363

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
    Jansen AC6 papers · 2026

    Pediatric Neurology Unit, Universitair Ziekenhuis Antwerpen, 2650 EdegemAntwerp, Belgium.

    Papers in Europe PMC
  2. 02
    Lhatoo SD5 papers · 2025

    Texas Institute for Restorative Neurotechnologies (TIRN), Department of Neurology, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA.

    Papers in Europe PMC
  3. 03
    Englot DJ4 papers · 2026

    Department of Biomedical Engineering at Vanderbilt University.

    Papers in Europe PMC
  4. 04
    Jackson GD4 papers · 2026

    Florey Institute of Neuroscience and Mental Health, Heidelberg, Victoria 3084, Australia.

    Papers in Europe PMC
  5. 05
    Lacuey N4 papers · 2025

    Texas Institute for Restorative Neurotechnologies (TIRN), Department of Neurology, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA.

    Papers in Europe PMC
  6. 06
    Li Y4 papers · 2026

    Department of Obstetric, Liuzhou Maternal and Child Care Service Centre, Liuzhou, People's Republic of China.

    Papers in Europe PMC
  7. 07
    Li Z4 papers · 2025

    Department of Neurology, China-Japan Union Hospital of Jilin University, Changchun, China.

    Papers in Europe PMC
  8. 08
    Pati S4 papers · 2025

    Department of Neurology, University of Minnesota Medical School, Minneapolis, USA.

    Papers in Europe PMC
  9. 09
    Scheffer IE4 papers · 2026

    Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia.

    Papers in Europe PMC
  10. 10
    Wang X4 papers · 2025

    Department of Neurosurgery, Sanbo Brain Hospital, Capital Medical University, Beijing 100093, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

2 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

low confidence · 84.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

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 2026-07-29

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 Nodular neuronal heterotopia — 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.

"Nodular neuronal heterotopia" OR "genetic nodular heterotopia" OR "nodular heterotopia"

Run this search on Europe PMC

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

"Nodular neuronal heterotopia" OR "genetic nodular heterotopia" OR "nodular heterotopia"

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: 2 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 (1859) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T19:17:34.109Z