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ORPHA:87884

Rare non-syndromic genetic deafness

high confidenceDisorder

Also known as: Rare isolated genetic deafness · Rare isolated genetic hearing loss · Rare non-syndromic genetic hearing loss

Publications

57

43.8th percentile

Trials

0

Interventional, condition-specific

Researchers

426

Distinct authors in sample

Gene link

ACTG1, ADAMTS1, ADCY1

Definitive

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic deafness characterized by sensorineural, conductive, or mixed hearing loss occurring as an isolated finding, without associated malformations or abnormalities of other organ systems. Hearing impairment may range from mild to profound; onset may be prelingual or postlingual, and hearing loss may be stable or . It displays marked genetic heterogeneity with (DFNB; ~75-80%), (DFNA; ~20%), X-linked (DFNX; ~2-5%), (<1%), and Y-linked (DFNY; <1%) inheritance. forms typically present with severe-to-profound hearing loss, while forms more commonly show postlingual onset.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

nonsyndromic genetic hearing loss

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.”

2/6 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 — ACTG1, ADAMTS1, ADCY1, ADGRV1, BDP1…

  2. LiteraturePresent

    57 matched papers (30 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 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 (ACTG1, ADAMTS1, ADCY1…).

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?

57

57 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.

57 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).

30 in the last 10 years · high confidence · 43.8th percentile (publications denominator)

Phrase hits: 18 · MeSH hits: 39

Open Europe PMC search

Who's working on it?

426

Distinct author names in 57 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
    Belyantseva IA5 papers · 2026

    National Institute on Deafness and Other Communication Disorders, Section on Human Genetics belyants@nidcd.nih.gov.

    Papers in Europe PMC
  2. 02
    Friedman TB5 papers · 2026

    National Institute on Deafness and Other Communication Disorders, Section on Human Genetics.

    Papers in Europe PMC
  3. 03
    Liu XZ4 papers · 2021

    Department of Otolaryngology.

    Papers in Europe PMC
  4. 04
    Yan D3 papers · 2021

    Department of Otolaryngology.

    Papers in Europe PMC
  5. 05
    Corey DP2 papers · 2015

    Department of Neurobiology and Howard Hughes Medical Institute, Harvard Medical School, Boston, Massachusetts 02115, dcorey@hms.harvard.edu zheng-yi_chen@meei.harvard.edu.

    Papers in Europe PMC
  6. 06
    Goodyear R2 papers · 2014

    School of Life Sciences, University of Sussex, Brighton, UK.

    Papers in Europe PMC
  7. 07
    Hoa M2 papers · 2020

    Office of the Clinical Director, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892.

    Papers in Europe PMC
  8. 08
    Moser T2 papers · 2025

    Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Göttingen, Germany. tmoser@gwdg.de.

    Papers in Europe PMC
  9. 09
    Ouyang X2 papers · 2012
    Papers in Europe PMC
  10. 10
    Petit C2 papers · 2014

    Unité de Génétique et Physiologie de l'Audition, Institut Pasteur, Paris, France UMRS 1120, Institut National de la Santé et de la Recherche Médicale (INSERM), Paris, France Université Pierre et Marie Curie (Paris VI), Paris, France Syndrome de Usher et autres Atteintes Rétino-Cochléaires, Institut de la vision, Paris, France Collège de France, Paris, France cpetit@pasteur.fr.

    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 27 July 2026

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

high confidence · 36.5th 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.

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.

"Rare non-syndromic genetic deafness" OR "Rare isolated genetic deafness" OR "Rare isolated genetic hearing loss" OR "Rare non-syndromic genetic hearing loss" OR "nonsyndromic genetic hearing loss"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Nonsyndromic Deafness

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

"Rare non-syndromic genetic deafness" OR "Rare isolated genetic deafness" OR "Rare isolated genetic hearing loss" OR "Rare non-syndromic genetic hearing loss" OR "nonsyndromic genetic hearing loss" OR "Nonsyndromic Deafness" OR "ACTG1" OR "ADAMTS1" OR "ADCY1"

Recall-expansion terms: ACTG1, ADAMTS1, ADCY1

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

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

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 2026-07-27T03:21:51.018Z