ORPHA:85186
Endosteal sclerosis-cerebellar hypoplasia syndrome
Publications
9
23.5th percentile
Trials
0
Interventional, condition-specific
Researchers
39
Distinct authors in sample
Gene link
POLR3B
Definitive
Readiness
2/6
Stages with a signal
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0013722
- MeSH:C535353
- OMIM:213002
- OMIM:614381
- UMLS:C3280644
Additional Mondo synonyms (4)
HLD8 · POLR3B leukodystrophy · endosteal sclerosis-cerebellar hypoplasia syndrome · leukodystrophy caused by mutation in POLR3B
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
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — POLR3B
- LiteraturePresent
9 matched papers (7 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 trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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 (POLR3B).
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?
9
9 papers have ever been indexed 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.
9 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).
7 in the last 10 years · medium confidence · 23.5th percentile (publications denominator)
Phrase hits: 6 · MeSH hits: 3
Who's working on it?
39
Distinct author names in 9 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.
- 01Badonyi M2 papers · 2025
MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK. mihaly.badonyi@ed.ac.uk.
Papers in Europe PMC - 02Marsh JA2 papers · 2025
MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK. joseph.marsh@ed.ac.uk.
Papers in Europe PMC - 03Abeleira-Pazos MT1 paper · 2022
Medical-Surgical Dentistry Research Group (OMEQUI), Health Research Institute of Santiago de Compostela (IDIS), University of Santiago de Compostela (USC), 15782 Santiago de Compostela, Spain.
Papers in Europe PMC - 04Alasmar D1 paper · 2023
Pediatric Department, Damascus University Damascus, Syria.
Papers in Europe PMC - 05Arriagada-Vargas C1 paper · 2022
Medical-Surgical Dentistry Research Group (OMEQUI), Health Research Institute of Santiago de Compostela (IDIS), University of Santiago de Compostela (USC), 15782 Santiago de Compostela, Spain.
Papers in Europe PMC - 06Atiskova Y1 paper · 2024
Department of Ophthalmology, University Medical Center Hamburg-Eppendorf, 20251 Hamburg, Germany.
Papers in Europe PMC - 07Bettinger CM1 paper · 2024
Children's Hospital, University Medical Center Hamburg-Eppendorf, 20251 Hamburg, Germany.
Papers in Europe PMC - 08Bhat AM1 paper · 2016
From the Jules Stein Eye Institute, Geffen School of Medicine.
Papers in Europe PMC - 09Bhat SP1 paper · 2016
From the Jules Stein Eye Institute, Geffen School of Medicine, Brain Research Institute, UCLA, Los Angeles, California 90095 Molecular Biology Institute and bhat@jsei.ucla.edu.
Papers in Europe PMC - 10Bley AE1 paper · 2024
Children's Hospital, University Medical Center Hamburg-Eppendorf, 20251 Hamburg, 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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
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.
medium 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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.
"Endosteal sclerosis-cerebellar hypoplasia syndrome" OR "POLR3B leukodystrophy" OR "leukodystrophy caused by mutation in POLR3B"
MeSH descriptor terms unioned into the query: Cerebellar hypoplasia with endosteal sclerosis
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Endosteal sclerosis-cerebellar hypoplasia syndrome" OR "POLR3B leukodystrophy" OR "leukodystrophy caused by mutation in POLR3B" OR "Cerebellar hypoplasia with endosteal sclerosis" OR "POLR3B"
Recall-expansion terms: POLR3B
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: HLD8
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 2026-07-27T02:47:54.760Z