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ORPHA:90635

Autosomal dominant non-syndromic genetic deafness

low confidenceSubtype of disorder

Also known as: Autosomal dominant non-syndromic neurosensory hearing loss · Autosomal dominant non-syndromic sensorineural deafness · Autosomal dominant non-syndromic sensorineural hearing loss · Non-syndromic genetic DFNA · Autosomal dominant isolated neurosensory deafness · Autosomal dominant isolated neurosensory hearing loss · Autosomal dominant isolated sensorineural deafness · Autosomal dominant isolated sensorineural hearing loss · Autosomal dominant non-syndromic genetic hearing loss · Autosomal dominant non-syndromic neurosensory deafness

Publications

13,284

Trials

0

Interventional, condition-specific

Researchers

1,122

Distinct authors in sample

Gene link

ABCC1, ATP11A, ATP2B2

Definitive

Readiness

4/6

Stages with a signal

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 (6)

autosomal dominant isolated neurosensory hearing loss type DFNA · autosomal dominant isolated sensorineural hearing loss type DFNA · autosomal dominant non-syndromic neurosensory hearing loss type DFNA · autosomal dominant non-syndromic sensorineural hearing loss type DFNA · autosomal dominant nonsyndromic hearing impairment · autosomal dominant nonsyndromic 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 — ABCC1, ATP11A, ATP2B2, CD164, COL11A1…

  2. LiteraturePresent

    13,284 matched papers (8,733 in last 10 years) Source

  3. Phenotype characterisedPresent

    156 HPO annotations (e.g. Thrombocytopenia; Abnormal vestibular function; Progressive hearing impairment) Source

  4. Animal modelPresent

    23 genotype models (Mus musculus, Danio rerio) 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 (ABCC1, ATP11A, ATP2B2…).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

156

Associated phenotypes · MONDO:0019587

  • Thrombocytopenia
  • Abnormal vestibular function
  • Progressive hearing impairment
  • Sensorineural hearing impairment

Showing 4 of 156 — open Monarch for the full list.

Animal models (Monarch / Alliance)

23

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?

13,284

13,284 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.

13,284 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).

8,733 in the last 10 years · low confidence

Phrase hits: 284 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,122

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
    Liu Y11 papers · 2025

    Department of Otolaryngology (D-48), Miller School of Medicine, University of Miami, 1666 NW 12th Avenue, Miami, FL, 33136, USA.

    Papers in Europe PMC
  2. 02
    Smith RJ11 papers · 2022

    Department of Otolaryngology - Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, Iowa 52242, USA ; Iowa Institute of Human Genetics, University of Iowa College of Medicine, Iowa City, Iowa 52242, USA ; Interdepartmental PhD Program in Genetics, University of Iowa, Iowa City, Iowa 52242, USA.

    Papers in Europe PMC
  3. 03
    Lu Y10 papers · 2026

    Department of Biotechnology, School of Basic Medical Science, Nanjing Medical University, Nanjing, 210029, PR China. 13851543104@163.com.

    Papers in Europe PMC
  4. 04
    Azaiez H8 papers · 2026

    Department of Otolaryngology - Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, Iowa 52242, USA.

    Papers in Europe PMC
  5. 05
    Smith RJH8 papers · 2026

    Department of Otolaryngology-Head and Neck Surgery, University of Iowa, Iowa City, Iowa, USA. Richard-smith@uiowa.edu.

    Papers in Europe PMC
  6. 06
    Van Camp G8 papers · 2011

    Department of Medical Genetics, University of Antwerp, Campus Drie Eiken, Universiteitsplein 1, B-2610, Antwerp, Belgium.

    Papers in Europe PMC
  7. 07
    Wang H8 papers · 2025

    Institute of Otolaryngology, Chinese PLA General Hospital, Medical School of Chinese PLA, Beijing, China.

    Papers in Europe PMC
  8. 08
    Choi BY7 papers · 2024

    Department of Otorhinolaryngology, Seoul National University Bundang Hospital, Seongnam, 13620, South Korea.

    Papers in Europe PMC
  9. 09
    Gao X7 papers · 2026

    Department of Otolaryngology, Chinese PLA General Hospital, Beijing, 100853, People's Republic of China. mixueer0110@126.com.

    Papers in Europe PMC
  10. 10
    Li J7 papers · 2025

    Department of Otorhinolaryngology Head and Neck Surgery, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, China; Shandong Provincial Key Laboratory of Otology, Jinan, China.

    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 Autosomal dominant 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.

("Autosomal dominant non-syndromic genetic deafness" OR "Autosomal dominant non-syndromic neurosensory hearing loss" OR "Autosomal dominant non-syndromic sensorineural deafness" OR "Autosomal dominant non-syndromic sensorineural hearing loss" OR "Non-syndromic genetic DFNA" OR "Autosomal dominant isolated neurosensory deafness" OR "Autosomal dominant isolated neurosensory hearing loss" OR "Autosomal dominant isolated sensorineural deafness" OR "Autosomal dominant isolated sensorineural hearing loss" OR "Autosomal dominant non-syndromic genetic hearing loss" OR "Autosomal dominant non-syndromic neurosensory deafness" OR "autosomal dominant isolated neurosensory hearing loss type DFNA" OR "autosomal dominant isolated sensorineural hearing loss type DFNA" OR "autosomal dominant non-syndromic neurosensory hearing loss type DFNA" OR "autosomal dominant non-syndromic sensorineural hearing loss type DFNA" OR "autosomal dominant nonsyndromic hearing impairment" OR "autosomal dominant nonsyndromic hearing loss") OR ("ABCC1" OR "ABCC1 syndrome" OR "ABCC1-related" OR "ATP11A" OR "ATP11A syndrome" OR "ATP11A-related" OR "ATP2B2" OR "ATP2B2 syndrome" OR "ATP2B2-related")

Run this search on Europe PMC

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

"Autosomal dominant non-syndromic genetic deafness" OR "Autosomal dominant non-syndromic neurosensory hearing loss" OR "Autosomal dominant non-syndromic sensorineural deafness" OR "Autosomal dominant non-syndromic sensorineural hearing loss" OR "Non-syndromic genetic DFNA" OR "Autosomal dominant isolated neurosensory deafness" OR "Autosomal dominant isolated neurosensory hearing loss" OR "Autosomal dominant isolated sensorineural deafness" OR "Autosomal dominant isolated sensorineural hearing loss" OR "Autosomal dominant non-syndromic genetic hearing loss" OR "Autosomal dominant non-syndromic neurosensory deafness" OR "autosomal dominant isolated neurosensory hearing loss type DFNA" OR "autosomal dominant isolated sensorineural hearing loss type DFNA" OR "autosomal dominant non-syndromic neurosensory hearing loss type DFNA" OR "autosomal dominant non-syndromic sensorineural hearing loss type DFNA" OR "autosomal dominant nonsyndromic hearing impairment" OR "autosomal dominant nonsyndromic hearing loss"

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
  • Publication count (13284) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T03:52:07.855Z