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ORPHA:231183

Usher syndrome type 3

medium confidenceSubtype of disorder

Also known as: USH3

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

180

65.8th percentile

Trials

2

Interventional, condition-specific

Researchers

1,147

Distinct authors in sample

Gene link

CLRN1, HARS1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare ciliopathy characterized by hearing and visual loss in the first decades of life and, in some cases, vestibular dysfunction. Patients have normal hearing at birth. Onset of hearing loss is usually in late childhood or adolescence after development of speech. Profound deafness is mostly reported by middle age. Retinitis pigmentosa related visual loss also develops in late childhood or adolescence. Developmental motor milestones are generally normal but vestibular dysfunction may occur in adulthood.

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.

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 — CLRN1, HARS1

  2. LiteraturePresent

    180 matched papers (97 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 (1 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?

Yes — we know a specific gene responsible (CLRN1, HARS1).

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?

180

180 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.

180 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).

97 in the last 10 years · medium confidence · 65.8th percentile (publications denominator)

Phrase hits: 180 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,147

Distinct author names in 180 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
    Sankila EM13 papers · 2013
    Papers in Europe PMC
  2. 02
    Alagramam KN10 papers · 2026

    Otolaryngology Head and Neck Surgery, University Hospitals Case Medical Center, Case Western Reserve University, Cleveland, Ohio, USA.

    Papers in Europe PMC
  3. 03
    Millán JM8 papers · 2021

    Grupo de Investigación en Enfermedades Neurosensoriales. Instituto de Investigación Sanitaria IIS-La Fe, Semisótano Escuela de Enfermería, Hospital Universitario La Fe, Avda. Campanar, 21, 46009, Valencia, Spain. millan_jos@gva.es.

    Papers in Europe PMC
  4. 04
    Aller E7 papers · 2021

    Grupo de Investigación en Enfermedades Neurosensoriales. Instituto de Investigación Sanitaria IIS-La Fe, Semisótano Escuela de Enfermería, Hospital Universitario La Fe, Avda. Campanar, 21, 46009, Valencia, Spain. elenaller@yahoo.es.

    Papers in Europe PMC
  5. 05
    Dinculescu A7 papers · 2025

    Department of Ophthalmology, University of Florida, Gainesville, FL, 32610, USA.

    Papers in Europe PMC
  6. 06
    Jaijo T7 papers · 2021

    Grupo de Investigación en Enfermedades Neurosensoriales. Instituto de Investigación Sanitaria IIS-La Fe, Semisótano Escuela de Enfermería, Hospital Universitario La Fe, Avda. Campanar, 21, 46009, Valencia, Spain. tjaijo@gmail.com.

    Papers in Europe PMC
  7. 07
    El-Amraoui A6 papers · 2026

    Déficits Sensoriels Progressifs, Institut Pasteur, INSERM UMR-S 1120, Sorbonne Universités, Paris, France.

    Papers in Europe PMC
  8. 08
    Joensuu T6 papers · 2007

    Department of Medical Genetics, University of Helsinki, Finland. sankila@helsinki.fi

    Papers in Europe PMC
  9. 09
    Kimberling WJ6 papers · 2012
    Papers in Europe PMC
  10. 10
    Liu X6 papers · 2024

    Department of Ophthalmology, University of Pittsburgh, 3501 Fifth Avenue, Pittsburgh, PA, 15260, USA.

    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; 1 currently recruiting in our sample. 13 trials are registered for Usher syndrome, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

Broader category: Usher syndrome

13

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

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.

"Usher syndrome type 3"

Run this search on Europe PMC

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

"Usher syndrome type 3" OR "CLRN1" OR "HARS1"

Recall-expansion terms: CLRN1, HARS1

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: 2 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"Usher syndrome"

Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: USH3

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 2026-07-27T10:15:09.179Z