RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:597623

IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome

high confidenceDisorder

Publications

29

42.4th percentile

Trials

0

Interventional, condition-specific

Researchers

297

Distinct authors in sample

Gene link

IRF2BPL

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic neurological disorder characterized by childhood onset of severe global neurodevelopmental regression with eventual loss of independent walking and loss of language and fine and gross motor skills, and development of severe dysphagia requiring tube feeding, , cerebellar syndrome, dystonia, and other neurologic manifestations. Brain imaging shows cerebral and/or cerebellar atrophy in most cases. A less severe associated with missense mutations shows no regression or movement abnormalities, ambulation is preserved, and brain imaging is normal.

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 (1)

neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures

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

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

  1. Gene identifiedPresent

    Definitive — IRF2BPL

  2. LiteraturePresent

    29 matched papers (28 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 trialPartial

    None under the specific name; 39 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 (IRF2BPL).

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?

29

29 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=5449) is 41.

29 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).

28 in the last 10 years · high confidence · 42.4th percentile (publications denominator)

Phrase hits: 29 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

297

Distinct author names in 29 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
    Marcogliese PC4 papers · 2026

    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

    Papers in Europe PMC
  2. 02
    Bellen HJ3 papers · 2022

    Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, 77030, USA.

    Papers in Europe PMC
  3. 03
    Yamamoto S3 papers · 2022

    Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, 77030, USA.

    Papers in Europe PMC
  4. 04
    Li Y2 papers · 2025

    Department of Pediatrics, Linyi People's Hospital, 276003, Linyi, Shandong, China.

    Papers in Europe PMC
  5. 05
    Might M2 papers · 2022

    Precision Medicine Institute, University of Alabama, Birmingham, AL 35294, USA.

    Papers in Europe PMC
  6. 06
    Pascual DM2 papers · 2026

    Department of Biochemistry and Medical Genetics, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.

    Papers in Europe PMC
  7. 07
    Pena LDM2 papers · 2022

    Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.

    Papers in Europe PMC
  8. 08
    Wang Y2 papers · 2024

    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

    Papers in Europe PMC
  9. 09
    Wangler MF2 papers · 2021

    Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, 77030, USA. mw147467@bcm.edu.

    Papers in Europe PMC
  10. 10
    Zech M2 papers · 2025

    Institute of Human Genetics, Technical University of Munich, School of Medicine and Health, Munich, Germany.

    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. 2 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial. 39 trials are registered for neurodevelopmental disorder, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

high confidence · 36.5th 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.

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

Broader category: neurodevelopmental disorder

39

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

Observational and natural-history studies

2 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.

"IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome" OR "neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures" OR "neurodevelopmental disorder with regression, abnormal movements, loss of the speech, and seizures"

Run this search on Europe PMC

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

"IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome" OR "neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures" OR "neurodevelopmental disorder with regression, abnormal movements, loss of the speech, and seizures" OR "IRF2BPL" OR "Mendelian neurodevelopmental disorder"

Recall-expansion terms: IRF2BPL, Mendelian neurodevelopmental disorder

Study-type breakdown: 0 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"neurodevelopmental disorder"

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

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

Ingested 2026-07-27T18:54:40.643Z