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ORPHA:98892

Periventricular nodular heterotopia

low confidenceSubtype of disorder

Also known as: PVNH

Publications

15,860

Trials

1

Interventional, condition-specific

Researchers

1,301

Distinct authors in sample

Gene link

ARF1, ERMARD, FLNA

Definitive

Readiness

5/6

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.”

5/6 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

    15,860 matched papers (10,173 in last 10 years) Source

  3. Phenotype characterisedPresent

    153 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

    1 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?

Yes — we know a specific gene responsible (ARF1, ERMARD, FLNA…).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

153

Associated phenotypes · MONDO:0020341

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

Showing 5 of 153 — 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)

1 associated chemical · 40 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Iopanoic Acid · marker/mechanism

Pathways: MAPK signaling pathway; Ubiquitin mediated proteolysis; Endocytosis; Focal adhesion; Tight junction; Aldosterone-regulated sodium reabsorption; Salmonella infection; Proteoglycans in cancer

MyDisease.info · MONDO:0020341

Literature

Is anyone studying this?

15,860

15,860 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.

15,860 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).

10,173 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?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026 · last trial check 28 July 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.

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 2026-07-30

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 Periventricular nodular 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.

("Periventricular nodular heterotopia") OR (MESH:"Periventricular Nodular Heterotopia") OR ("ARF1" OR "ARF1 syndrome" OR "ARF1-related" OR "ERMARD" OR "ERMARD syndrome" OR "ERMARD-related" OR "FLNA" OR "FLNA syndrome" OR "FLNA-related")

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"

Interventional trials matched via: both (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, mesh; with hits: phrase, mesh

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 (15860) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

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