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ORPHA:72

Angelman syndrome

medium confidenceDisorder

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

7,667

97.1th percentile

Trials

26

Interventional, condition-specific

Researchers

1,070

Distinct authors in sample

Gene link

UBE3A

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic neurodevelopmental disorder characterized by moderate to severe , microcephaly, , ataxic gait and distinct abnormal facial shape.

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 (1)

Angelman’s 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 — UBE3A

  2. LiteraturePresent

    7,667 matched papers (4,061 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

    26 matched on ClinicalTrials.gov (7 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 (UBE3A).

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?

7,667

7,667 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=5449) is 41.

7,667 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).

4,061 in the last 10 years · medium confidence · 97.1th percentile (publications denominator)

Phrase hits: 7,667 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,070

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
    Sadhwani A11 papers · 2026

    Boston Children's Hospital, Boston, Massachusetts, USA.

    Papers in Europe PMC
  2. 02
    Bird LM8 papers · 2026

    UCSD, Rady Children's Hospital San Diego, San Diego, California, USA.

    Papers in Europe PMC
  3. 03
    Sidorov MS8 papers · 2026

    Center for Neuroscience Research Children's National Hospital, Washington, DC, USA. msidorov@childrensnational.org.

    Papers in Europe PMC
  4. 04
    Tan WH7 papers · 2026

    Boston Children's Hospital, Boston, Massachusetts, USA.

    Papers in Europe PMC
  5. 05
    Elgersma Y6 papers · 2026

    Department of Neuroscience, Center of Expertise for Neurodevelopment (ENCORE), Rotterdam, The Netherlands.

    Papers in Europe PMC
  6. 06
    Philpot BD6 papers · 2026

    Neuroscience Center, University of North Carolina, Chapel Hill, North Carolina 27599-7255 bphilpot@med.unc.edu.

    Papers in Europe PMC
  7. 07
    Potter SN6 papers · 2026

    GenOmics and Translational Research Center, RTI International, 3040 East Cornwallis Road, Research Triangle Park, Durham, NC, 27709-2194, USA.

    Papers in Europe PMC
  8. 08
    Wheeler AC6 papers · 2026

    GenOmics and Translational Research Center, RTI International, 3040 East Cornwallis Road, Research Triangle Park, Durham, NC, 27709-2194, USA.

    Papers in Europe PMC
  9. 09
    Dindot SV5 papers · 2026

    Department of Veterinary Pathobiology, College of Veterinary Medicine & Biomedical Sciences, Texas A&M University , ,

    Papers in Europe PMC
  10. 10
    Kelleher B5 papers · 2026

    Department of Psychological Sciences, Purdue University, Lafayette, IN.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

26

interventional trials for this specific condition

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

Data as of 27 July 2026

26 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 95.3th percentile).

medium confidence · 95.3th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

21 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.

"Angelman syndrome" OR "Angelman’s syndrome"

Run this search on Europe PMC

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

"Angelman syndrome" OR "Angelman’s syndrome" OR "UBE3A"

Recall-expansion terms: UBE3A

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: 26 interventional · 21 observational · 1 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 short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T12:18:49.511Z