ORPHA:90635
Autosomal dominant non-syndromic genetic deafness
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
284
75.4th percentile
Trials
0
Interventional, condition-specific
Researchers
1,122
Distinct authors in sample
Gene link
ABCC1, ATP11A, ATP2B2
Definitive
Readiness
2/6
Stages with a signal
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0019587
- UMLS:C5779548
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.”
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.
- Gene identifiedPresent
Definitive — ABCC1, ATP11A, ATP2B2, CD164, COL11A1…
- LiteraturePresent
284 matched papers (163 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
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?
284
284 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.
284 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).
163 in the last 10 years · high confidence · 75.4th percentile (publications denominator)
Phrase hits: 284 · MeSH hits: 0
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.
- 01Liu 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 - 02Smith 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 - 03Lu 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 - 04Azaiez 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 - 05Smith 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 - 06Van Camp G8 papers · 2011
Department of Medical Genetics, University of Antwerp, Campus Drie Eiken, Universiteitsplein 1, B-2610, Antwerp, Belgium.
Papers in Europe PMC - 07Wang H8 papers · 2025
Institute of Otolaryngology, Chinese PLA General Hospital, Medical School of Chinese PLA, Beijing, China.
Papers in Europe PMC - 08Choi BY7 papers · 2024
Department of Otorhinolaryngology, Seoul National University Bundang Hospital, Seongnam, 13620, South Korea.
Papers in Europe PMC - 09Gao X7 papers · 2026
Department of Otolaryngology, Chinese PLA General Hospital, Beijing, 100853, People's Republic of China. mixueer0110@126.com.
Papers in Europe PMC - 10Li 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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
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 2026-07-26This 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"
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" OR "ABCC1" OR "ATP11A" OR "ATP2B2" OR "CD164" OR "COL11A1" OR "LMX1A" OR "MACF1" OR "MYO1C" OR "NCOA3" OR "PDE1C" OR "PLS1" OR "RIPOR2" OR "SLC17A8" OR "TJP2" OR "nonsyndromic genetic hearing loss" OR "autosomal genetic disease"
Recall-expansion terms: ABCC1, ATP11A, ATP2B2, CD164, COL11A1, LMX1A, MACF1, MYO1C, NCOA3, PDE1C, PLS1, RIPOR2, SLC17A8, TJP2, nonsyndromic genetic hearing loss, autosomal genetic disease
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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 2026-07-27T03:52:07.855Z