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ORPHA:686488

RNU4-2-related autosomal dominant neurodevelopmental disorder

medium confidenceDisorder

Also known as: ReNU syndrome

Publications

184

65.4th percentile

Trials

0

Interventional, condition-specific

Researchers

1,308

Distinct authors in sample

Gene link

RNU4-2

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic, syndromic neurodevelopmental disorder characterized by global development delay with absent/poor speech, mild to profound , and microcephaly. Other common clinical manifestations include brain abnormalities, behavioral disturbances, , ophthalmological and skeletal manifestations, feeding difficulties, weight gain problems and distinctive facial features.

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 (5)

NEDHAFA · RENU · RNU4-2-related ReNU syndrome · RNU4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndrome · RNU4-2-related neurodevelopmental syndrome

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

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Strong — RNU4-2

  2. LiteraturePresent

    184 matched papers (170 in last 10 years) Source

  3. Phenotype characterisedPresent

    209 HPO annotations (e.g. Encephalopathy; Cavum septum pellucidum; Periventricular heterotopia) 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 trialPartial

    None under the specific name; 40 for broader category neurodevelopmental disorder

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 (RNU4-2).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

209

Associated phenotypes · MONDO:0971172

  • Encephalopathy
  • Cavum septum pellucidum
  • Periventricular heterotopia
  • Tube feeding
  • Cerebral palsy

Showing 5 of 209 — 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)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

184

184 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

184 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).

170 in the last 10 years · medium confidence · 65.4th percentile (publications denominator)

Phrase hits: 51 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,308

Distinct author names in 51 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
    Baer S8 papers · 2026

    Service de Neuropédiatrie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.

    Papers in Europe PMC
  2. 02
    El Chehadeh S8 papers · 2026

    Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace (IGMA), CHU Strasbourg, Strasbourg, France.

    Papers in Europe PMC
  3. 03
    Gueguen P8 papers · 2026

    Laboratoire SeqOIA, Paris, France.

    Papers in Europe PMC
  4. 04
    Nava C8 papers · 2026

    Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, APHP, Hôpital Pitié-Salpêtrière, Paris, France. caroline.nava@aphp.fr.

    Papers in Europe PMC
  5. 05
    Rius R8 papers · 2026

    Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.

    Papers in Europe PMC
  6. 06
    Whiffin N8 papers · 2026

    Big Data Institute, University of Oxford, Oxford, UK.

    Papers in Europe PMC
  7. 07
    Austin-Tse C7 papers · 2026

    Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.

    Papers in Europe PMC
  8. 08
    Blanc P7 papers · 2026

    Laboratoire SeqOIA, Paris, France.

    Papers in Europe PMC
  9. 09
    Chen Y7 papers · 2026

    Big Data Institute, University of Oxford, Oxford, UK.

    Papers in Europe PMC
  10. 10
    Depienne C7 papers · 2026

    Laboratoire SeqOIA, Paris, France. christel.depienne@uk-essen.de.

    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). 40 trials are registered for neurodevelopmental disorder, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

medium 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.

40 interventional trials matched neurodevelopmental disorder, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: neurodevelopmental disorder

40

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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 RNU4-2-related autosomal dominant neurodevelopmental disorder — 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.

("RNU4-2-related autosomal dominant neurodevelopmental disorder" OR "ReNU syndrome" OR "NEDHAFA" OR "RNU4-2-related ReNU syndrome" OR "RNU4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndrome" OR "RNU4-2-related neurodevelopmental syndrome") OR ("RNU4-2" OR "RNU4-2 syndrome" OR "RNU4-2-related")

Run this search on Europe PMC

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

"RNU4-2-related autosomal dominant neurodevelopmental disorder" OR "ReNU syndrome" OR "NEDHAFA" OR "RNU4-2-related ReNU syndrome" OR "RNU4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndrome" OR "RNU4-2-related neurodevelopmental syndrome"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"neurodevelopmental disorder"

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: RENU

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

Ingested 2026-07-27T20:29:55.660Z