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ORPHA:647

Nijmegen breakage syndrome

low confidenceDisorder

Also known as: AT V1 · Ataxia-telangiectasia, variant 1 · Berlin breakage syndrome · Immunodeficiency-microcephaly-chromosomal instability syndrome · Microcephaly-immunodeficiency-lymphoid malignancy syndrome · NBS · Seemanova syndrome type 2

Publications

815,401

Trials

3

Interventional, condition-specific

Researchers

1,253

Distinct authors in sample

Gene link

NBN

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic chromosomal instability syndrome presenting at birth with microcephaly, facial features which become more noticeable with age, growth delay, recurring sinopulmonary infections and extremely high frequency of malignancies.

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 (4)

NBs · Seemanova syndrome · ataxia-telangiectasia, variant 1 · immunodeficiency-microcephaly-chromosomal instability 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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — NBN

  2. LiteraturePresent

    815,401 matched papers (747,273 in last 10 years) Source

  3. Phenotype characterisedPresent

    125 HPO annotations (e.g. Macrotia; Hemolytic anemia; Deep philtrum) Source

  4. Animal modelPresent

    7 genotype models (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

    3 matched on ClinicalTrials.gov (2 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 (NBN).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

125

Associated phenotypes · MONDO:0009623

  • Macrotia
  • Hemolytic anemia
  • Deep philtrum
  • Anal stenosis
  • Abnormality of the musculature

Showing 5 of 125 — open Monarch for the full list.

Animal models (Monarch / Alliance)

7

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

1

Drugs / clinical candidates · MONDO_0009623

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

815,401

815,401 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.

815,401 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).

747,273 in the last 10 years · low confidence

Phrase hits: 815,396 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,253

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
    Li Z6 papers · 2026

    Beijing Institute of Basic Medical Sciences, Beijing, China.

    Papers in Europe PMC
  2. 02
    Wang X5 papers · 2026

    School of Psychological and Cognitive Sciences, Peking University, Beijing, China.

    Papers in Europe PMC
  3. 03
    Zhang Y5 papers · 2026

    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangzhou, Guangdong, China.

    Papers in Europe PMC
  4. 04
    Chen X4 papers · 2026

    Northeastern University, Boston, Massachusetts, United States.

    Papers in Europe PMC
  5. 05
    Liu L4 papers · 2026

    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangzhou, Guangdong, China.

    Papers in Europe PMC
  6. 06
    Pastorczak A4 papers · 2025

    Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, Lodz, Poland. agata.pastorczak@umed.lodz.pl.

    Papers in Europe PMC
  7. 07
    Zhao L4 papers · 2026

    Research Centre Jülich, Institute of Neuroscience and Medicine (INM-1), 52425, Jülich, Germany.

    Papers in Europe PMC
  8. 08
    Bartolomeo P3 papers · 2026

    Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital de la Pitié-Salpêtrière, Paris, France. Electronic address: paolo.bartolomeo@icm-institute.org.

    Papers in Europe PMC
  9. 09
    Cattaneo S3 papers · 2026

    Unit of Neuroscience, Department of Medicine and Surgery, University of Parma, Parma, Italy.

    Papers in Europe PMC
  10. 10
    Chen Y3 papers · 2026

    Center for Perceptual Systems, The University of Texas at Austin, Austin, TX, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

3

interventional trials for this specific condition

3 interventional trials matched this specific condition name; 2 currently recruiting in our sample.

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

3 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 86.7th percentile).

low confidence · 86.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

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 56 · after dedupe 56 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 56 · 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).

Uncertain / not reviewed (56)

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 Nijmegen breakage syndrome — 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.

("Nijmegen breakage syndrome" OR "AT V1" OR "Ataxia-telangiectasia, variant 1" OR "Berlin breakage syndrome" OR "Immunodeficiency-microcephaly-chromosomal instability syndrome" OR "Microcephaly-immunodeficiency-lymphoid malignancy syndrome" OR "Seemanova syndrome type 2" OR "Seemanova syndrome") OR ("NBN syndrome" OR "NBN-related")

Run this search on Europe PMC

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

"Nijmegen breakage syndrome" OR "AT V1" OR "Ataxia-telangiectasia, variant 1" OR "Berlin breakage syndrome" OR "Immunodeficiency-microcephaly-chromosomal instability syndrome" OR "Microcephaly-immunodeficiency-lymphoid malignancy syndrome" OR "Seemanova syndrome type 2" OR "Seemanova syndrome"

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: 3 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

Synonyms dropped by stoplist: NBS

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 (815401) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T14:43:48.440Z