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ORPHA:819

Smith-Magenis syndrome

medium confidenceDisorder

Also known as: 17p11.2 microdeletion syndrome

Publications

2,020

93.1th percentile

Trials

7

Interventional, condition-specific

Researchers

1,127

Distinct authors in sample

Gene link

RAI1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic, neurodevelopmental disorder characterized by cognitive impairment of variable severity, behavioral abnormalities, and sleep disturbance. Patients present with distinctive physical features and a wide range of malformations (e.g. cardiac, renal).

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (6)

SMITH-Magenis syndrome · SMS · Smith Magenis Syndrome · Smith-Magenis syndrome, Isolated cases · chromosome 17P11.2 deletion syndrome · chromosome 17p11.2 deletion 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.”

3/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — RAI1

  2. LiteraturePresent

    2,020 matched papers (1,009 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    7 matched on ClinicalTrials.gov (1 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 (RAI1).

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?

2,020

2,020 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

2,020 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).

1,009 in the last 10 years · medium confidence · 93.1th percentile (publications denominator)

Phrase hits: 2,020 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,127

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
    Elsea SH9 papers · 2026

    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

    Papers in Europe PMC
  2. 02
    Onesimo R9 papers · 2025

    Rare Diseases Unit, Fondazione Policlinico Universitario Agostino Gemelli-IRCCS, Rome, Italy.

    Papers in Europe PMC
  3. 03
    Zampino G9 papers · 2025

    Rare Diseases Unit, Fondazione Policlinico Universitario Agostino Gemelli-IRCCS, Rome, Italy.

    Papers in Europe PMC
  4. 04
    Oliver C8 papers · 2024

    Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham.

    Papers in Europe PMC
  5. 05
    Richards C8 papers · 2024

    Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham.

    Papers in Europe PMC
  6. 06
    Huang WH7 papers · 2026

    Department of Neurology and Neurosurgery, Centre for Research in Neuroscience, McGill University, QC, H3G 1A3, Canada.

    Papers in Europe PMC
  7. 07
    Lee YJ7 papers · 2026

    Department of Neurology and Neurosurgery, Centre for Research in Neuroscience, McGill University, QC, H3G 1A3, Canada.

    Papers in Europe PMC
  8. 08
    Agar G6 papers · 2024

    School of Psychology, University of Birmingham, Birmingham, B15 2TT, UK. g.e.agar@bham.ac.uk.

    Papers in Europe PMC
  9. 09
    Haque M6 papers · 2026

    Department of Neurology and Neurosurgery, Centre for Research in Neuroscience, McGill University, QC, H3G 1A3, Canada.

    Papers in Europe PMC
  10. 10
    Smith ACM6 papers · 2026

    Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

7

interventional trials for this specific condition

7 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 27 July 2026

7 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 89.9th percentile).

medium confidence · 89.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

6 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.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

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.

"Smith-Magenis syndrome" OR "17p11.2 microdeletion syndrome" OR "Smith Magenis Syndrome" OR "Smith-Magenis syndrome, Isolated cases" OR "chromosome 17P11.2 deletion syndrome"

Run this search on Europe PMC

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

"Smith-Magenis syndrome" OR "17p11.2 microdeletion syndrome" OR "Smith Magenis Syndrome" OR "Smith-Magenis syndrome, Isolated cases" OR "chromosome 17P11.2 deletion syndrome" OR "RAI1"

Recall-expansion terms: RAI1

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: 7 interventional · 6 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: SMS

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 2026-07-26T15:31:58.286Z