ORPHA:589905
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
Also known as: Chung-Jansen syndrome · DIDOD
Publications
69
59.2th percentile
Trials
0
Interventional, condition-specific
Researchers
741
Distinct authors in sample
Gene link
PHIP
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic multiple anomalies/ syndrome characterized by variable and , overweight or obesity, behavioral abnormalities (including hyperactivity, aggressive behavior, anxiety, mood disorder, or autistic features), and facial dysmorphism (such as high forehead, full eyebrows and/or synophrys, upturned nose, and fleshy ears, among others). Additional reported manifestations are , ocular anomalies, anomalies of the fingers and toes, joint hypermobility, or abnormal pigmentation. Brain imaging may show mild nonspecific abnormalities.
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:0035133
- OMIM:617991
- UMLS:C4693860
Additional Mondo synonyms (1)
developmental delay, intellectual disability, obesity, and dysmorphic features
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 — PHIP
- LiteraturePresent
69 matched papers (67 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 (PHIP).
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?
69
69 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.
69 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).
67 in the last 10 years · high confidence · 59.2th percentile (publications denominator)
Phrase hits: 69 · MeSH hits: 0
Who's working on it?
741
Distinct author names in 69 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.
- 01Chung WK5 papers · 2024
Department of Pediatrics, Columbia University, New York, New York 10032, USA.
Papers in Europe PMC - 02de Vries BBA4 papers · 2025
Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands. bert.devries@radboudumc.nl.
Papers in Europe PMC - 03Baralle D3 papers · 2026
Faculty of Medicine, University of Southampton, Southampton, UK.
Papers in Europe PMC - 04Lee J3 papers · 2022
Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, 03080, Republic of Korea.
Papers in Europe PMC - 05Pfundt R3 papers · 2025
Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
Papers in Europe PMC - 06Sadikovic B3 papers · 2025
Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada. Electronic address: bekim.sadikovic@lhsc.on.ca.
Papers in Europe PMC - 07Vissers LELM3 papers · 2024
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 - 08Alders M2 papers · 2025
Amsterdam UMC, Department of Human Genetics, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development Research Institute, Amsterdam, the Netherlands.
Papers in Europe PMC - 09Alkuraya FS2 papers · 2023
Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Papers in Europe PMC - 10Athanasopoulou L2 papers · 2026
2nd Pulmonary Medicine Department, Medical School, General University Hospital “Attikon”, National and Kapodistrian University of Athens, Rimini 1 Str., 12462 Haidari, Greece; (L.A.); (E.K.); (V.P.); (S.L.)
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.
high 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.
"PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome" OR "Chung-Jansen syndrome" OR "DIDOD" OR "developmental delay, intellectual disability, obesity, and dysmorphic features"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome" OR "Chung-Jansen syndrome" OR "DIDOD" OR "developmental delay, intellectual disability, obesity, and dysmorphic features" OR "PHIP"
Recall-expansion terms: PHIP
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
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T18:48:29.551Z