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ORPHA:464306

DYRK1A-related intellectual disability syndrome

medium confidenceDisorder

Also known as: DYRK1A syndrome

Publications

73

60th percentile

Trials

2

Interventional, condition-specific

Researchers

498

Distinct authors in sample

Gene link

DYRK1A

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic syndromic characterized by microcephaly, global , mild to severe , impairment of speech, feeding problems, behavior problems (often autism spectrum disorder) and facial features (such as prominent ears, deep-set eyes, a short nose with a broad nasal tip, and retrognathia with a broad chin). Other, more variable manifestations include , short stature, ocular anomalies, cardiac anomalies, urogenital anomalies and musculoskeletal defects.

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 (4)

MRD7 · autosomal dominant intellectual disability 7 · intellectual disability, autosomal dominant type 7 · mental retardation, autosomal dominant type 7

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 — DYRK1A

  2. LiteraturePresent

    73 matched papers (70 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

    2 matched on ClinicalTrials.gov

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 (DYRK1A).

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?

73

73 papers have ever been published on this condition (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=5449) is 41.

73 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).

70 in the last 10 years · medium confidence · 60th percentile (publications denominator)

Phrase hits: 73 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

498

Distinct author names in 73 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
    Piton A8 papers · 2026

    Department of Translational Medicine and Neurogenetics, IGBMC, CNRS UMR 7104, INSERM U964, Strasbourg University, Strasbourg, France.

    Papers in Europe PMC
  2. 02
    Mandel JL6 papers · 2026

    Department of Translational Medicine and Neurogenetics, IGBMC, CNRS UMR 7104, INSERM U964, Strasbourg University, Strasbourg, France.

    Papers in Europe PMC
  3. 03
    Courraud J5 papers · 2026

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

    Papers in Europe PMC
  4. 04
    Eichler EE5 papers · 2025

    Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.

    Papers in Europe PMC
  5. 05
    Arbonés ML4 papers · 2022

    Instituto de Biología Molecular de Barcelona (IBMB), CSIC, 08028 Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain. Electronic address: marbmc@ibmb.csic.es.

    Papers in Europe PMC
  6. 06
    Balducci E4 papers · 2022

    Instituto de Biología Molecular de Barcelona (IBMB), CSIC, 08028 Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain.

    Papers in Europe PMC
  7. 07
    Barallobre MJ4 papers · 2022

    Instituto de Biología Molecular de Barcelona (IBMB), CSIC, 08028 Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain.

    Papers in Europe PMC
  8. 08
    Bernier RA4 papers · 2025

    Department of Psychiatry and Behavioral Sciences, University of Washington School of Medicine, Seattle, WA, USA.

    Papers in Europe PMC
  9. 09
    Durand B4 papers · 2024

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

    Papers in Europe PMC
  10. 10
    Isidor B4 papers · 2024

    Medical Genetics- Clinical Genetics Unit, CHU de Nantes, Nantes-Cedex, France.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

2 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 27 July 2026

2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).

medium confidence · 82.4th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

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

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.

"DYRK1A-related intellectual disability syndrome" OR "DYRK1A syndrome" OR "autosomal dominant intellectual disability 7" OR "intellectual disability, autosomal dominant type 7" OR "mental retardation, autosomal dominant type 7"

Run this search on Europe PMC

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

"DYRK1A-related intellectual disability syndrome" OR "DYRK1A syndrome" OR "autosomal dominant intellectual disability 7" OR "intellectual disability, autosomal dominant type 7" OR "mental retardation, autosomal dominant type 7" OR "DYRK1A"

Recall-expansion terms: DYRK1A

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

Study-type breakdown: 2 interventional · 1 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: MRD7

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 2026-07-27T16:54:22.724Z