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ORPHA:48652

Phelan-McDermid syndrome

low confidenceDisorder

Publications

5,591

Trials

16

Interventional, condition-specific

Researchers

1,213

Distinct authors in sample

Gene link

SHANK3

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic neurodevelopmental disorder characterized by , global , normal to accelerated growth, absent to severely delayed speech, and minor features.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (2)

PHMDS · Phelan McDermid 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.”

6/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — SHANK3

  2. LiteraturePresent

    5,591 matched papers (4,275 in last 10 years) Source

  3. Phenotype characterisedPresent

    125 HPO annotations (e.g. Vesicoureteral reflux; Epicanthus; Pointed chin) Source

  4. Animal modelPresent

    6 genotype models (Rattus norvegicus, Mus musculus) Source

  5. Orphan designationPartial

    1 EMA designation (none yet with FDA orphan-indication approval) — e.g. Cyclo-L-glycyl-L-2-allylproline Source

  6. Interventional trialPresent

    16 matched on ClinicalTrials.gov (6 recruiting in sample)

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 (SHANK3).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

125

Associated phenotypes · MONDO:0011652

  • Vesicoureteral reflux
  • Epicanthus
  • Pointed chin
  • Hearing impairment
  • Macrotia

Showing 5 of 125 — open Monarch for the full list.

Animal models (Monarch / Alliance)

6

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

1

Designation · no FDA orphan-indication approval yet

  • EMA Cyclo-L-glycyl-L-2-allylprolineTreatment of Phelan-McDermid syndrome · 06/01/2021 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

6

Drugs / clinical candidates · MONDO_0011652

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

5,591

5,591 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

5,591 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

4,275 in the last 10 years · low confidence

Phrase hits: 1,568 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,213

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Kolevzon A23 papers · 2026

    Seaver Autism Center for Research and Treatment, New York, NY, USA. alexander.kolevzon@mssm.edu.

    Papers in Europe PMC
  2. 02
    Buxbaum JD17 papers · 2026

    Seaver Autism Center for Research and Treatment, New York, NY, USA.

    Papers in Europe PMC
  3. 03
    Phelan K17 papers · 2026

    Florida Cancer Specialists & Research Institute, Fort Myers, FL 33908, USA.

    Papers in Europe PMC
  4. 04
    Berry-Kravis E16 papers · 2026

    Department of Pediatrics, Rush University Medical Center, Chicago, Illinois, USA.

    Papers in Europe PMC
  5. 05
    Boccuto L16 papers · 2026

    Healthcare Genetics and Genomics, School of Nursing, Clemson University, Clemson, SC 29634, USA.

    Papers in Europe PMC
  6. 06
    Levy T15 papers · 2026

    Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

    Papers in Europe PMC
  7. 07
    Sahin M13 papers · 2025

    Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.

    Papers in Europe PMC
  8. 08
    Sarasua SM13 papers · 2026

    Healthcare Genetics and Genomics, School of Nursing, Clemson University, Clemson, SC 29634, USA.

    Papers in Europe PMC
  9. 09
    Thurm A13 papers · 2025

    Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland, USA.

    Papers in Europe PMC
  10. 10
    Bernstein JA12 papers · 2025

    Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

16

interventional trials for this specific condition

16 interventional trials matched this specific condition name; 6 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

16 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 94.2th percentile).

low confidence · 94.2th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

16 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

3 observational studies match 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.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Phelan-McDermid syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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" OR "PHMDS" OR "Phelan McDermid syndrome") OR ("SHANK3" OR "SHANK3 syndrome" OR "SHANK3-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Phelan-McDermid syndrome" OR "PHMDS" OR "Phelan McDermid syndrome"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 16 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; 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
  • Publication count (5591) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T00:15:03.600Z