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ORPHA:238446

15q11q13 microduplication syndrome

low confidenceDisorder

Also known as: 15q11q13 duplication syndrome · Dup(15)(q11q13) · Trisomy 15q11q13

Publications

529

Trials

5

Interventional, condition-specific

Researchers

1,353

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, , cognitive deficit, language delay and . Prevalence is unknown.

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.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (7)

15q11-q13 duplication syndrome · 15q11-q13 microduplication syndrome · Dup15q · autism susceptibility 4 · dup(15)(q11q13) · trisomy 15q11-q13 · trisomy 15q11q13

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 identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    529 matched papers (443 in last 10 years) Source

  3. Phenotype characterisedPresent

    39 HPO annotations (e.g. Unsteady gait; Inflexible adherence to routines; Reduced ability to form peer relationships) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    5 matched on ClinicalTrials.gov (2 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

39

Associated phenotypes · MONDO:0012081

  • Unsteady gait
  • Inflexible adherence to routines
  • Reduced ability to form peer relationships
  • Seizure
  • EEG abnormality

Showing 5 of 39 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

1

Drugs / clinical candidates · MONDO_0012081

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

529

529 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=3967) is 59.

529 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).

443 in the last 10 years · low confidence

Phrase hits: 529 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,353

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
    Reiter LT9 papers · 2025

    4Departments of Neurology, Pediatrics and Anatomy & Neurobiology, The University of Tennessee Health Science Center, 855 Monroe Ave., Link, Memphis, TN 415 USA.

    Papers in Europe PMC
  2. 02
    LaSalle JM8 papers · 2025

    Department of Medical Microbiology and Immunology, School of Medicine, University of California Davis, 1275 Med Science Dr, Davis, CA 95616, United States.

    Papers in Europe PMC
  3. 03
    Saravanapandian V8 papers · 2026

    2Center for Autism Research and Treatment, University of California Los Angeles, Semel Institute for Neuroscience, Los Angeles, CA 90024 USA.

    Papers in Europe PMC
  4. 04
    Godler DE7 papers · 2025

    Murdoch Children's Research Institute, Parkville, Victoria, Australia.

    Papers in Europe PMC
  5. 05
    Hipp JF7 papers · 2026

    Roche Pharma Research and Early Development, Neuroscience, Ophthalmology and Rare Diseases, Roche Innovation Center Basel, Basel, Switzerland.

    Papers in Europe PMC
  6. 06
    Jeste SS7 papers · 2026

    2Center for Autism Research and Treatment, University of California Los Angeles, Semel Institute for Neuroscience, Los Angeles, CA 90024 USA.

    Papers in Europe PMC
  7. 07
    Amor DJ6 papers · 2025

    Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, VIC, Australia; Neurodisability and Rehabilitation, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia.

    Papers in Europe PMC
  8. 08
    Chamberlain S6 papers · 2026

    6Genetics and Genome Sciences, UConn Health, 400 Farmington Avenue, Farmington, CT 06030-6403 USA.

    Papers in Europe PMC
  9. 09
    Chamberlain SJ6 papers · 2023

    Department of Genetics and Genome Sciences, University of Connecticut School of Medicine, Farmington, CT, USA.

    Papers in Europe PMC
  10. 10
    DiStefano C6 papers · 2026

    2Center for Autism Research and Treatment, University of California Los Angeles, Semel Institute for Neuroscience, Los Angeles, CA 90024 USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

5

interventional trials for this specific condition

5 interventional trials matched this specific condition name; 2 currently recruiting in our sample.

Data as of 11 September 2026

5 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 89.2th percentile).

low confidence · 89.2th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

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

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 2026-07-30

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 15q11q13 microduplication 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.

"15q11q13 microduplication syndrome" OR "15q11q13 duplication syndrome" OR "Dup(15)(q11q13)" OR "Trisomy 15q11q13" OR "15q11-q13 duplication syndrome" OR "15q11-q13 microduplication syndrome" OR "Dup15q" OR "autism susceptibility 4" OR "trisomy 15q11-q13"

Run this search on Europe PMC

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

"15q11q13 microduplication syndrome" OR "15q11q13 duplication syndrome" OR "Dup(15)(q11q13)" OR "Trisomy 15q11q13" OR "15q11-q13 duplication syndrome" OR "15q11-q13 microduplication syndrome" OR "Dup15q" OR "autism susceptibility 4" OR "trisomy 15q11-q13"

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: 5 interventional · 1 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 (529) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T10:21:44.234Z