RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:98892

Periventricular nodular heterotopia

low confidenceSubtype of disorder

Also known as: PVNH

Publications

1,449

Trials

2

Interventional, condition-specific

Researchers

1,301

Distinct authors in sample

Gene link

ARF1, ERMARD, FLNA

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Periventricular nodular heterotopia (PNH) is a brain , due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with lethality in males.

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 (1)

periventricular 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.”

3/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — ARF1, ERMARD, FLNA, MAP1B

  2. LiteraturePresent

    1,449 matched papers (917 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    2 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 (ARF1, ERMARD, FLNA…).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

1,449

1,449 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=5449) is 41.

1,449 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

917 in the last 10 years · low confidence

Phrase hits: 1,449 · MeSH hits: 45

Open Europe PMC search

Who's working on it?

1,301

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

    Neurogenetics Research Group, Vrije Universiteit Brussel (VUB), Brussels, Belgium.

    Papers in Europe PMC
  2. 02
    Bartolomei F5 papers · 2025

    Aix Marseille Univ, INSERM, INS, Inst Neurosci Syst, Marseille, France.

    Papers in Europe PMC
  3. 03
    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
  4. 04
    Scheffer IE5 papers · 2026

    Murdoch Children's Research Institute, Parkville, VIC 3052, 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 Z4 papers · 2025

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

    Papers in Europe PMC
  7. 07
    Pati S4 papers · 2025

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

    Papers in Europe PMC
  8. 08
    Pizzo F4 papers · 2025

    Aix Marseille Univ, INSERM, INS, Inst Neurosci Syst, Marseille, France.

    Papers in Europe PMC
  9. 09
    Wang X4 papers · 2025

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

    Papers in Europe PMC
  10. 10
    Berkovic SF3 papers · 2026

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

    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; 1 currently recruiting in our sample.

Data as of 27 July 2026

2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).

low confidence · 82.4th 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.

Observational and natural-history studies

3 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

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.

"Periventricular nodular heterotopia"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Periventricular Nodular Heterotopia

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

"Periventricular nodular heterotopia" OR "ARF1" OR "ERMARD" OR "FLNA"

Recall-expansion terms: ARF1, ERMARD, FLNA

Interventional trials matched via: both, recall-expansion (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 · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh, recall-expansion

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: PVNH

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 (1449) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T05:40:31.130Z