ORPHA:912
Zellweger syndrome
Also known as: Cerebrohepatorenal syndrome · Severe PBD-ZSD · Severe peroxisome biogenesis disorder-Zellweger spectrum disorder · ZS
Publications
3,263
Trials
4
Interventional, condition-specific
Researchers
1,098
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare peroxisome biogenesis disorder (the most severe variant of Peroxisome biogenesis disorder spectrum) characterized by neuronal migration defects in the brain, craniofacial features, profound , , and liver dysfunction.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0019609
- MeSH:D015211
- UMLS:C0043459
- NCIT:C85239
Additional Mondo synonyms (3)
ZWS · Zellweger spectrum disorders · cerebrohepatorenal 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.”
2/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
3,263 matched papers (1,352 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
4 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
3,263
3,263 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.
3,263 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).
1,352 in the last 10 years · low confidence
Phrase hits: 3,263 · MeSH hits: 0
Who's working on it?
1,098
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.
- 01Wanders RJA9 papers · 2025
Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Papers in Europe PMC - 02Waterham HR8 papers · 2024
Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Papers in Europe PMC - 03Braverman NE7 papers · 2025
Department of Human Genetics and Pediatrics, McGill University Health Centre, Montreal, Canada.
Papers in Europe PMC - 04Wangler MF7 papers · 2025
Department of Molecular and Human Genetics, Baylor College of Medicine, Duncan Neurological Research Institute, DNRI-1050, Houston, TX 77030, USA. Electronic address: michael.wangler@bcm.edu.
Papers in Europe PMC - 05Braverman N6 papers · 2025
Child Health and Human Development Axis, Research Institute of the McGill University Health Centre, Montréal, Québec, Canada; Department of Human Genetics, McGill University, Montréal, Québec, Canada. Electronic address: nancy.braverman@mcgill.ca.
Papers in Europe PMC - 06Ferdinandusse S6 papers · 2023
Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Papers in Europe PMC - 07Klouwer FCC6 papers · 2024
Department of Paediatric Neurology/Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam, The Netherlands.
Papers in Europe PMC - 08Poll-The BT5 papers · 2019
Department of Pediatric Neurology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Papers in Europe PMC - 09Setchell KDR5 papers · 2025
Pathology and Laboratory Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
Papers in Europe PMC - 10Vaz FM5 papers · 2024
Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands. f.m.vaz@amc.uva.nl.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
4
interventional trials for this specific condition
4 interventional trials matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
4 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 86.7th percentile).
low confidence · 86.7th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
4 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.
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
- NCT03047369·RECRUITING·The Myelin Disorders Biorepository Project
Conditions: Leukodystrophy · White Matter Disease · Leukoencephalopathies · 4H Syndrome·Matched via name phrase
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 2026-07-26This 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.
"Zellweger syndrome" OR "Cerebrohepatorenal syndrome" OR "Severe PBD-ZSD" OR "Severe peroxisome biogenesis disorder-Zellweger spectrum disorder" OR "Zellweger spectrum disorders"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Zellweger syndrome" OR "Cerebrohepatorenal syndrome" OR "Severe PBD-ZSD" OR "Severe peroxisome biogenesis disorder-Zellweger spectrum disorder" OR "Zellweger spectrum disorders"
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: 4 interventional · 3 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: ZS; ZWS
Confidence reasoning
- Preferred label is short or not clearly distinctive
- 2 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T15:53:54.918Z