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ORPHA:87884

Rare non-syndromic genetic deafness

low confidenceDisorder

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

Publications

9,748

Trials

0

Interventional, condition-specific

Researchers

426

Distinct authors in sample

Gene link

ACTG1, ADAMTS1, ADCY1

Definitive

Readiness

4/6

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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — ACTG1, ADAMTS1, ADCY1, ADGRV1, BDP1…

  2. LiteraturePresent

    9,748 matched papers (6,797 in last 10 years) Source

  3. Phenotype characterisedPresent

    405 HPO annotations (e.g. Male infertility; Sensorineural hearing impairment; Profound sensorineural hearing impairment) Source

  4. Animal modelPresent

    102 genotype models (Danio rerio, 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 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)

405

Associated phenotypes · MONDO:0019497

  • Male infertility
  • Sensorineural hearing impairment
  • Profound sensorineural hearing impairment
  • Thrombocytopenia
  • Abnormal vestibular function

Showing 5 of 405 — open Monarch for the full list.

Animal models (Monarch / Alliance)

102

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?

9,748

9,748 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.

9,748 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).

6,797 in the last 10 years · low confidence

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 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.

low 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 Rare non-syndromic genetic deafness — 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.

("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 (MESH:"Nonsyndromic Deafness") OR ("ACTG1" OR "ACTG1 syndrome" OR "ACTG1-related" OR "ADAMTS1" OR "ADAMTS1 syndrome" OR "ADAMTS1-related" OR "ADCY1" OR "ADCY1 syndrome" OR "ADCY1-related")

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"

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

Query health: ok — strategies attempted: phrase, mesh; 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
  • Publication count (9748) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T03:21:51.018Z