ORPHA:468678
White-Sutton syndrome
Also known as: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
131
70.3th percentile
Trials
0
Interventional, condition-specific
Researchers
1,194
Distinct authors in sample
Gene link
POGZ
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, syndromic disorder characterized by craniofacial features, global , and variable neurobehavioral abnormalities (autism spectrum disorder, aggressiveness, and self-injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation).
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:0014606
- OMIM:616364
- UMLS:C4225351
Additional Mondo synonyms (6)
MRD37 · WHSUS · autosomal dominant intellectual disability 37 · intellectual disability, autosomal dominant type 37 · intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome · mental retardation, autosomal dominant type 37
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 — POGZ
- LiteraturePresent
131 matched papers (126 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 (POGZ).
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?
131
131 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.
131 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).
126 in the last 10 years · high confidence · 70.3th percentile (publications denominator)
Phrase hits: 131 · MeSH hits: 0
Who's working on it?
1,194
Distinct author names in 131 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.
- 01Lupski JR4 papers · 2022
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. jlupski@bcm.edu.
Papers in Europe PMC - 02Rosenfeld JA4 papers · 2022
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Papers in Europe PMC - 03Sutton VR4 papers · 2022
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Papers in Europe PMC - 04Chen X3 papers · 2025
Lady Davis Institute for Medical Research, Segal Cancer Centre, Jewish General Hospital, Montreal, QC, Canada.
Papers in Europe PMC - 05Jhangiani SN3 papers · 2021
The Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Papers in Europe PMC - 06Li F3 papers · 2026
Developmental and Behavioral Pediatric Department - Child Primary Care Department, Brain and Behavioral Research Unit of Shanghai Institute for Pediatric Research and MOE Shanghai Key Laboratory for Children's Environmental Health, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Papers in Europe PMC - 07Liu P3 papers · 2026
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Papers in Europe PMC - 08Nagata KI3 papers · 2024
Department of Molecular Neurobiology, Institute of Developmental Research, Aichi Developmental Disability Center, Kasugai, Aichi 480-0392, Japan.
Papers in Europe PMC - 09Posey JE3 papers · 2021
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. jennifer.posey@bcm.edu.
Papers in Europe PMC - 10Scott DA3 papers · 2022
Texas Children's Hospital, Houston, Texas, USA dscott@bcm.edu.
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
- NCT07380594·RECRUITING·Descriptive Study of Psychiatric Symptoms in White-Sutton Syndrome
Conditions: People With White Sutton Syndrome·Matched via name phrase
General rare disease registries you may be eligible for
These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.
- NCT01793168·RECRUITING·Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Conditions: Rare Disorders · Undiagnosed Disorders · Disorders of Unknown Prevalence · Cornelia De Lange Syndrome
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.
"White-Sutton syndrome" OR "Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome" OR "MRD37" OR "WHSUS" OR "autosomal dominant intellectual disability 37" OR "intellectual disability, autosomal dominant type 37" OR "mental retardation, autosomal dominant type 37"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"White-Sutton syndrome" OR "Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome" OR "MRD37" OR "WHSUS" OR "autosomal dominant intellectual disability 37" OR "intellectual disability, autosomal dominant type 37" OR "mental retardation, autosomal dominant type 37" OR "POGZ"
Recall-expansion terms: POGZ
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
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 2026-07-27T17:04:48.304Z