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ORPHA:231169

Usher syndrome type 1

medium confidenceSubtype of disorder

Also known as: USH1

Publications

10,153

96.2th percentile

Trials

0

Interventional, condition-specific

Researchers

1,288

Distinct authors in sample

Gene link

CDH23, CIB2, MYO7A

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare ciliopathy characterized by profound deafness, retinitis pigmentosa and vestibular dysfunction. Retinitis pigmentosa results in visual loss and generally manifests as night blindness, progressively constricted visual fields, and impaired visual acuity. Vestibular dysfunction a defining feature of this form, manifests as delayed motor development with affected infants taking longer to sit independently and to walk. Later on, vestibular dysfunction results in difficulty with activities requiring balance.

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 (2)

Usher syndrome, type 1 · retinitis pigmentosa and congenital deafness

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.”

5/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — CDH23, CIB2, MYO7A, PCDH15, USH1C…

  2. LiteraturePresent

    10,153 matched papers (7,289 in last 10 years) Source

  3. Phenotype characterisedPresent

    46 HPO annotations (e.g. Rod-cone dystrophy; Abnormal electroretinogram; Scotoma) Source

  4. Animal modelPresent

    40 genotype models (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 trialPartial

    None under the specific name; 16 for broader category Usher syndrome

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 (CDH23, CIB2, MYO7A…).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

46

Associated phenotypes · MONDO:0010168

  • Rod-cone dystrophy
  • Abnormal electroretinogram
  • Scotoma
  • Motor delay
  • Anxiety

Showing 5 of 46 — open Monarch for the full list.

Animal models (Monarch / Alliance)

40

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?

10,153

10,153 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=3967) is 59.

10,153 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).

7,289 in the last 10 years · medium confidence · 96.2th percentile (publications denominator)

Phrase hits: 371 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,288

Distinct author names in 200 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
    Petit C14 papers · 2025

    Unité de Génétique et Physiologie de l'Audition, Institut Pasteur, Paris, France.

    Papers in Europe PMC
  2. 02
    Stingl K7 papers · 2026

    University Eye Hospital, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany tobias.haack@med.uni-tuebingen.de Katarina.Stingl@med.uni-tuebingen.de.

    Papers in Europe PMC
  3. 03
    Bonnet C6 papers · 2025

    INSERM UMRS 1120, Institut de la Vision, Paris, France.

    Papers in Europe PMC
  4. 04
    Ahmed ZM5 papers · 2026

    Department of Molecular Biology, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad 44000, Pakistan.

    Papers in Europe PMC
  5. 05
    Kohl S5 papers · 2026

    Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.

    Papers in Europe PMC
  6. 06
    Li S5 papers · 2022

    Department of Neuroscience, University of Virginia, Charlottesville, VA, USA.

    Papers in Europe PMC
  7. 07
    Nishio SY5 papers · 2026

    Department of Hearing Implant Sciences, Shinshu University School of Medicine, 390-8621, Matsumoto, Japan.

    Papers in Europe PMC
  8. 08
    Riazuddin S5 papers · 2026

    Department of Molecular Biology, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad 44000, Pakistan.

    Papers in Europe PMC
  9. 09
    Bolz HJ4 papers · 2024

    Bioscientia Human Genetics, Institute for Medical Diagnostics GmbH, 55218 Ingelheim, Germany.

    Papers in Europe PMC
  10. 10
    El-Amraoui A4 papers · 2018

    Unité de Génétique et Physiologie de l'Audition, Institut Pasteur, Paris, France.

    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). 16 trials are registered for Usher syndrome, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

medium 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.

16 interventional trials matched Usher syndrome, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: Usher syndrome

16

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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 62 · after dedupe 61 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 61 · 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).

Uncertain / not reviewed (61)

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 Usher syndrome type 1 — 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.

("Usher syndrome type 1" OR "Usher syndrome, type 1" OR "retinitis pigmentosa and congenital deafness") OR ("CDH23" OR "CDH23 syndrome" OR "CDH23-related" OR "CIB2" OR "CIB2 syndrome" OR "CIB2-related" OR "MYO7A" OR "MYO7A syndrome" OR "MYO7A-related")

Run this search on Europe PMC

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

"Usher syndrome type 1" OR "Usher syndrome, type 1" OR "retinitis pigmentosa and congenital deafness"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"Usher syndrome"

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: USH1

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 2026-07-27T10:14:45.921Z