ORPHA:653767
Jansen-de Vries syndrome
Also known as: Developmental delay-behavorial problems-small hands and feet-cyclic vomiting-dysmorphic features syndrome · JDVS
Publications
36
47.5th percentile
Trials
0
Interventional, condition-specific
Researchers
443
Distinct authors in sample
Gene link
PPM1D
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare multiple anomalies/ syndrome characterized by mild to severe and/or , speech delay, behavioral problems (attention deficit-hyperactivity disorder, autism and anxiety disorders, outgoing hyper-social personality), periods of fever and cyclic vomitting. Most patients manifest additional clinical features, including gastrointestinal symptoms (poor feeding and constipation), facial dysmorphism (broad forehead, low-set posteriorly rotated ears, upturned nose and broad mouth with thin upper lip), small hands and feet often with brachydactyly, short stature, high pain threshold and/or hypersensitivity to sound, and broad-based gait.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0044318
- OMIM:617450
- UMLS:C4479517
Additional Mondo synonyms (2)
Jansen de Vries syndrome · intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
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 — PPM1D
- LiteraturePresent
36 matched papers (36 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 (PPM1D).
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?
36
36 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.
36 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).
36 in the last 10 years · medium confidence · 47.5th percentile (publications denominator)
Phrase hits: 36 · MeSH hits: 0
Who's working on it?
443
Distinct author names in 36 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.
- 01Lachman HM7 papers · 2026
Department of Psychiatry and Behavioral Sciences, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY, 10461, USA. Herb.Lachman@einsteinmed.org.
Papers in Europe PMC - 02de Vries BBA6 papers · 2025
Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, Netherlands.
Papers in Europe PMC - 03Cunningham JL4 papers · 2026
Department of Neuroscience, Psychiatry, Uppsala University, Uppsala, Sweden.
Papers in Europe PMC - 04Jansen S4 papers · 2024
Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, Netherlands.
Papers in Europe PMC - 05van der Spek PJ4 papers · 2026
Department of Pathology and Clinical Bioinformatics, Erasmus MC, Rotterdam, The Netherlands.
Papers in Europe PMC - 06Dubin RA3 papers · 2026
Center for Epigenomics, Computational Genomics Core, Albert Einstein College of Medicine, Bronx, New York, USA.
Papers in Europe PMC - 07Frankovich J3 papers · 2026
Department of Pediatrics, Division of Pediatric Allergy, Immunology, Rheumatology and Immune Behavioral Health Program, Stanford Children's Health and Stanford University School of Medicine, Palo Alto, California, USA.
Papers in Europe PMC - 08
- 09Schornagel A3 papers · 2026
GGZ-Delfland, Kinderpraktijk Zoetermeer, Zoetermeer, The Netherlands.
Papers in Europe PMC - 10Vissers LELM3 papers · 2023
Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands. lisenka.vissers@radboudumc.nl.
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.
"Jansen-de Vries syndrome" OR "Developmental delay-behavorial problems-small hands and feet-cyclic vomiting-dysmorphic features syndrome" OR "Jansen de Vries syndrome" OR "intellectual developmental disorder with gastrointestinal difficulties and high pain threshold"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Jansen-de Vries syndrome" OR "Developmental delay-behavorial problems-small hands and feet-cyclic vomiting-dysmorphic features syndrome" OR "Jansen de Vries syndrome" OR "intellectual developmental disorder with gastrointestinal difficulties and high pain threshold" OR "PPM1D"
Recall-expansion terms: PPM1D
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: JDVS
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 2026-07-27T19:58:55.693Z