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ORPHA:217340

17q21.31 microduplication syndrome

high confidenceDisorder

Also known as: Dup(17)(q21.31) · Trisomy 17q21.31

Publications

11

25.8th percentile

Trials

0

Interventional, condition-specific

Researchers

117

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

chromosome 17q21.31 duplication syndrome · dup(17)(q21.31) · trisomy 17q21.31

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

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    11 matched papers (8 in last 10 years) Source

  3. Phenotype characterisedPresent

    25 HPO annotations (e.g. Thick eyebrow; Synophrys; Autism) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationNot found

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

  6. Interventional trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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)

25

Associated phenotypes · MONDO:0013298

  • Thick eyebrow
  • Synophrys
  • Autism
  • Intellectual disability
  • Hypotonia

Showing 5 of 25 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

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)

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

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

11

11 papers have ever been indexed 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=3967) is 59.

11 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).

8 in the last 10 years · high confidence · 25.8th percentile (publications denominator)

Phrase hits: 11 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

117

Distinct author names in 11 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.

  1. 01
    Afinowi NO1 paper · 2017

    Synome Ltd, Moneta Building, Babraham Research Campus, Cambridge, United Kingdom.

    Papers in Europe PMC
  2. 02
    Alfei E1 paper · 2016

    UO Neurologia dello Sviluppo, Dipartimento di Neuroscienze Pediatriche, IRCCS Fondazione Istituto Neurologico "Carlo Besta", Via Celoria 11, Milan, Italy. Electronic address: enrico.alfei@istituto-besta.it.

    Papers in Europe PMC
  3. 03
    Alkhzouz C1 paper · 2021

    Emergency Clinical Hospital for Children, Cluj-Napoca, Romania.

    Papers in Europe PMC
  4. 04
    Arbogast T1 paper · 2017

    Institut de Génétique et de Biologie Moléculaire et Cellulaire, Université de Strasbourg, Illkirch, France.

    Papers in Europe PMC
  5. 05
    Bernardini N1 paper · 2023

    Department of Medico-Surgical Sciences and Biotechnologies, Dermatology Unit "D. Innocenzi", Sapienza University of Rome, Polo Pontino, Via Firenze, 1, 04019 Terracina, Italy.

    Papers in Europe PMC
  6. 06
    Birling MC1 paper · 2017

    CELPHEDIA, PHENOMIN, Institut Clinique de la Souris (ICS), CNRS, INSERM, University of Strasbourg, Illkirch-Graffenstaden, France.

    Papers in Europe PMC
  7. 07
    Bizzoco D1 paper · 2014

    Artemisia Fetal Maternal Medical Centre, Department of Genetics, Rome, Italy.

    Papers in Europe PMC
  8. 08
    Brizzi C1 paper · 2014

    Artemisia Fetal Maternal Medical Centre, Department of Prenatal Diagnosis, Rome, Italy.

    Papers in Europe PMC
  9. 09
    Bucerzan S1 paper · 2021

    Emergency Clinical Hospital for Children, Cluj-Napoca, Romania.

    Papers in Europe PMC
  10. 10
    Burada F1 paper · 2025

    Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania.

    Papers in Europe PMC

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).

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

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

high confidence · 38.6th 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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 17q21.31 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.

"17q21.31 microduplication syndrome" OR "Dup(17)(q21.31)" OR "Trisomy 17q21.31" OR "chromosome 17q21.31 duplication syndrome"

Run this search on Europe PMC

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

"17q21.31 microduplication syndrome" OR "Dup(17)(q21.31)" OR "Trisomy 17q21.31" OR "chromosome 17q21.31 duplication syndrome"

Study-type breakdown: 0 interventional · 0 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

Ingested 2026-07-27T09:49:19.975Z