ORPHA:662169
Phelan-McDermid syndrome due to 22q13.3 deletion
Also known as: 22q13.3 deletion · Chromosome 22q13.3 deletion syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
352
80.2th percentile
Trials
0
Interventional, condition-specific
Researchers
1,382
Distinct authors in sample
Gene link
—
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.
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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
352 matched papers (221 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 trialPartial
None under the specific name; 16 for broader category Phelan-McDermid syndrome
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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
352
352 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.
352 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).
221 in the last 10 years · high confidence · 80.2th percentile (publications denominator)
Phrase hits: 352 · MeSH hits: 0
Who's working on it?
1,382
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.
- 01Phelan K13 papers · 2026
Genetics Laboratory, Florida Cancer Specialists and Research Institute, Fort Myers, Florida, USA.
Papers in Europe PMC - 02Boccuto L12 papers · 2026
School of Nursing, Healthcare Genetics Doctoral Program, Clemson University, Clemson, South Carolina, USA.
Papers in Europe PMC - 03Sarasua SM9 papers · 2025
School of Nursing, Healthcare Genetics Doctoral Program, Clemson University, Clemson, South Carolina, USA.
Papers in Europe PMC - 04Wang Y9 papers · 2022
Department of Child Health Care, Children's Hospital of Fudan University, Shanghai, China.
Papers in Europe PMC - 05Jiang YH8 papers · 2025
Departments of Pediatrics and Neurobiology, Duke University School of Medicine, Durham, NC 27710, USA. yong-hui.jiang@duke.edu
Papers in Europe PMC - 06
- 07Zhang Y8 papers · 2025
Department of Child Health Care, Children's Hospital of Fudan University, Shanghai, China.
Papers in Europe PMC - 08Kolevzon A7 papers · 2025
Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Papers in Europe PMC - 09Buxbaum JD6 papers · 2025
Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA joseph.buxbaum@mssm.edu.
Papers in Europe PMC - 10
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). 16 trials are registered for Phelan-McDermid syndrome, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
16 interventional trials matched Phelan-McDermid syndrome, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: Phelan-McDermid syndrome
16
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT03836300·ENROLLING BY INVITATION·Parent and Infant Inter(X)Action Intervention (PIXI)
Conditions: Fragile X Syndrome · Angelman Syndrome · Prader-Willi Syndrome · Dup15Q Syndrome·Matched via name phrase
- NCT07593391·RECRUITING·An Open-label Study of NNZ-2591 in Pediatric Participants With Phelan-McDermid Syndrome
Conditions: Phelan-McDermid Syndrome·Matched via name phrase
- NCT07119606·NOT YET RECRUITING·Multicenter Study of Patients With SHANK3 Mutations: Identification of Genes Modificators in Phelan-McDermid Syndrome (EUQ13)
Conditions: Genetic Disease·Matched via name phrase
- NCT06662188·RECRUITING·JAG201 Gene Therapy Study in Children & Adults With SHANK3 Haploinsufficiency
Conditions: SHANK3 Haploinsufficiency · Phelan-McDermid Syndrome·Matched via name phrase
- NCT07690527·ENROLLING BY INVITATION·Long-Term Follow-Up Study for RB001 Gene Therapy Study in Children With SHANK3-related Phelan McDermid Syndrome (PMS)
Conditions: SHANK3 Haploinsufficiency · Phelan-McDermid Syndrome·Matched via name phrase
- NCT07281079·RECRUITING·A Study of NNZ-2591 in Pediatric Participants With Phelan-McDermid Syndrome
Conditions: Phelan-McDermid Syndrome·Matched via name phrase
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.
"Phelan-McDermid syndrome due to 22q13.3 deletion" OR "22q13.3 deletion" OR "Chromosome 22q13.3 deletion syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Phelan-McDermid syndrome due to 22q13.3 deletion" OR "22q13.3 deletion" OR "Chromosome 22q13.3 deletion syndrome" OR "chromosome 22q deletion" OR "syndrome caused by partial chromosomal deletion"
Recall-expansion terms: chromosome 22q deletion, syndrome caused by partial chromosomal deletion
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"Phelan-McDermid syndrome"
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 2026-07-27T20:09:29.321Z