ORPHA:96169
Koolen-De Vries syndrome
Also known as: KdVS
Publications
320
84.4th percentile
Trials
0
Interventional, condition-specific
Researchers
1,655
Distinct authors in sample
Gene link
KANSL1
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare multisystem disorder characterized by /childhood , mild to moderate or , , facial features, hypermetropia, heart anomalies, renal/urologic anomalies, musculoskeletal problems, and a friendly/amiable disposition.
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:0012496
- OMIM:610443
- UMLS:C1864871
Additional Mondo synonyms (5)
KANSL1-related intellectual disability syndrome · KDVS · Koolen de Vries syndrome · chromosome 17q21.31 deletion syndrome · microdeletion 17q21.31 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
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 — KANSL1
- LiteraturePresent
320 matched papers (293 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 (KANSL1).
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?
320
320 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.
320 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).
293 in the last 10 years · medium confidence · 84.4th percentile (publications denominator)
Phrase hits: 320 · MeSH hits: 0
Who's working on it?
1,655
Distinct author names in 200 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.
- 01Koolen DA23 papers · 2026
Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, the Netherlands.
Papers in Europe PMC - 02de Vries BBA15 papers · 2026
Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, the Netherlands.
Papers in Europe PMC - 03Li T9 papers · 2022
State Key Laboratory of Proteomics, Institute of Basic Medical Sciences, National Center of Biomedical Analysis, Beijing, China.
Papers in Europe PMC - 04Nadif Kasri N9 papers · 2026
Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, the Netherlands.
Papers in Europe PMC - 05Sadikovic B9 papers · 2026
Department of Pathology and Laboratory Medicine, Western University, London, ON N5A 3K7, Canada; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON N6A 5W9, Canada.
Papers in Europe PMC - 06Eichler EE8 papers · 2026
Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA. Electronic address: eee@gs.washington.edu.
Papers in Europe PMC - 07Myers KA8 papers · 2025
Department of Medicine, Epilepsy Research Centre, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.
Papers in Europe PMC - 08Linda K7 papers · 2026
Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, the Netherlands.
Papers in Europe PMC - 09Burger P6 papers · 2025
Institute of Genetics and Molecular and Cellular Biology (IGBMC), Dept. of Neurogenetics and Translational Medicine), Illkirch, Strasbourg, France.
Papers in Europe PMC - 10Mandel JL6 papers · 2025
Institute of Genetics and Molecular and Cellular Biology (IGBMC), Dept. of Neurogenetics and Translational Medicine), Illkirch, Strasbourg, France.
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
Observational and natural-history studies
1 observational study matches 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
- NCT01238250·RECRUITING·Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
Conditions: 16P11.2 Deletion Syndrome · 16p11.2 Duplications · 1Q21.1 Deletion · 1Q21.1 Microduplication Syndrome (Disorder)·Matched via recall expansion
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.
"Koolen-De Vries syndrome" OR "KANSL1-related intellectual disability syndrome" OR "Koolen de Vries syndrome" OR "chromosome 17q21.31 deletion syndrome" OR "microdeletion 17q21.31 syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Koolen-De Vries syndrome" OR "KANSL1-related intellectual disability syndrome" OR "Koolen de Vries syndrome" OR "chromosome 17q21.31 deletion syndrome" OR "microdeletion 17q21.31 syndrome" OR "KANSL1"
Recall-expansion terms: KANSL1
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: KdVS
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 2026-07-27T04:55:43.397Z