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ORPHA:100973

FRAXE intellectual disability

high confidenceDisorder

Also known as: Intellectual disability associated with fragile site FRAXE

Publications

1,564

87th percentile

Trials

0

Interventional, condition-specific

Researchers

119

Distinct authors in sample

Gene link

AFF2

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare X-linked syndromic characterized by a variable clinical picture including , mild to moderate , learning difficulties, communication deficits, and behavioral problems (such as aggression, attention deficit, hyperactivity, and autistic features). Personality disorder and psychotic behavior have also been reported.

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 (2)

intellectual developmental disorder, X-linked 109, X-linked recessive · intellectual disability associated with fragile site FRAXE

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

No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Definitive — AFF2

  2. LiteraturePresent

    1,564 matched papers (920 in last 10 years) Source

  3. Phenotype characterisedPresent

    40 HPO annotations (e.g. Prominent nasal bridge; Clumsiness; Short stature) 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 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?

Yes — we know a specific gene responsible (AFF2).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

40

Associated phenotypes · MONDO:0010659

  • Prominent nasal bridge
  • Clumsiness
  • Short stature
  • Prominent ear helix
  • Recurrent hand flapping

Showing 5 of 40 — 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

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?

1,564

1,564 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.

1,564 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).

920 in the last 10 years · high confidence · 87th percentile (publications denominator)

Phrase hits: 9 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

119

Distinct author names in 9 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
    Amor DJ1 paper · 2021

    Murdoch Children's Research Institute, Flemington Road, Parkville, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Flemington Road, Parkville, VIC 3052, Australia.

    Papers in Europe PMC
  2. 02
    Bardoni B1 paper · 2011
    Papers in Europe PMC
  3. 03
    Bebin EM1 paper · 2021

    Department of Neurology, University of Alabama at Birmingham, Birmingham, AL 35294, USA.

    Papers in Europe PMC
  4. 04
    Bensaid M1 paper · 2011
    Papers in Europe PMC
  5. 05
    Bertherat J1 paper · 2015

    1] Inserm, U1016, Institut Cochin, Paris, France [2] Cnrs, UMR8104, Paris, France [3] Université Paris Descartes, Sorbonne Paris Cité, France [4] Department of Endocrinology, Referral Center for Rare Adrenal Diseases, Assistance Publique Hôpitaux de Paris, Hôpital Cochin, Paris, France.

    Papers in Europe PMC
  6. 06
    Beuschlein F1 paper · 2015

    Endocrine Research Unit, Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, Munich, Germany.

    Papers in Europe PMC
  7. 07
    Blatterer J1 paper · 2021

    Institute of Human Genetics, Diagnostic and Research Center for Molecular Biomedicine, Medical University of Graz, 8010 Graz, Austria.

    Papers in Europe PMC
  8. 08
    Blugeon C1 paper · 2015

    1] Ecole Normale Supérieure, Institut de Biologie de l'ENS, IBENS, Plateforme Génomique, Paris, France [2] Inserm, U1024, Paris, France [3] CNRS, UMR 8197, Paris, France.

    Papers in Europe PMC
  9. 09
    Bose P1 paper · 2012
    Papers in Europe PMC
  10. 10
    Brown NJ1 paper · 2021

    Victorian Clinical Genetics Services, Flemington Road, Parkville, VIC 3052, Australia; Murdoch Children's Research Institute, Flemington Road, Parkville, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Flemington Road, Parkville, VIC 3052, Australia.

    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 FRAXE intellectual disability — 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.

("FRAXE intellectual disability" OR "Intellectual disability associated with fragile site FRAXE" OR "intellectual developmental disorder, X-linked 109, X-linked recessive") OR ("AFF2" OR "AFF2 syndrome" OR "AFF2-related" OR "FRAXE" OR "FRAXE syndrome" OR "FRAXE-related")

Run this search on Europe PMC

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

"FRAXE intellectual disability" OR "Intellectual disability associated with fragile site FRAXE" OR "intellectual developmental disorder, X-linked 109, X-linked recessive"

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 2026-07-27T07:07:24.667Z