ORPHA:90636
Autosomal recessive non-syndromic genetic deafness
Also known as: Autosomal recessive isolated neurosensory deafness · Autosomal recessive isolated neurosensory hearing loss · Autosomal recessive isolated sensorineural deafness · Autosomal recessive isolated sensorineural hearing loss · Autosomal recessive non-syndromic genetic hearing loss · Autosomal recessive non-syndromic neurosensory deafness · Autosomal recessive non-syndromic neurosensory hearing loss · Autosomal recessive non-syndromic sensorineural deafness · Autosomal recessive non-syndromic sensorineural hearing loss · Non-syndromic genetic DFNB
Publications
107
59.2th percentile
Trials
0
Interventional, condition-specific
Researchers
786
Distinct authors in sample
Gene link
ADCY1, LMX1A, PDZD7
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:0019588
- MeSH:C564609
- OMIM:607197
- UMLS:C1846647
Additional Mondo synonyms (1)
hearing loss, autosomal recessive
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 — ADCY1, LMX1A, PDZD7, PPIP5K2, PTPRQ…
- LiteraturePresent
107 matched papers (67 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 (ADCY1, LMX1A, PDZD7…).
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?
107
107 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.
107 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).
67 in the last 10 years · high confidence · 59.2th percentile (publications denominator)
Phrase hits: 82 · MeSH hits: 26
Who's working on it?
786
Distinct author names in 107 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 H4 papers · 2024
Gansu Provincial Maternity and Child-care Hospital, Lanzhou, China.
Papers in Europe PMC - 02Liu XZ4 papers · 2026
Department of Otolaryngology (D-48), University of Miami, 1666 NW 12th Avenue, Miami, FL 33136, USA. xliu@med.miami.edu
Papers in Europe PMC - 03Duman D3 papers · 2022
Department of Audiology, Ankara University Faculty of Health Sciences, Ankara, Turkey.
Papers in Europe PMC - 04Nishio SY3 papers · 2025
Department of Hearing Implant Sciences, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, 390-8621, Japan.
Papers in Europe PMC - 05Tekin M3 papers · 2022
John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Papers in Europe PMC - 06Yang J3 papers · 2021
Department of Ophthalmology and Visual Sciences, Moran Eye Center, University of Utah, Salt Lake City, UT 84132, USA.
Papers in Europe PMC - 07Arzhangi S2 papers · 2016
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Papers in Europe PMC - 08Avraham KB2 papers · 2003Papers in Europe PMC
- 09Azaiez H2 papers · 2021
Department of Otolaryngology, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.
Papers in Europe PMC - 10Bademci G2 papers · 2022
1 John P. Hussmann Institute for Human Genomics, Miller School of Medicine, University of Miami , Miami, Florida.
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 2026-07-26This 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 recessive non-syndromic genetic deafness" OR "Autosomal recessive isolated neurosensory deafness" OR "Autosomal recessive isolated neurosensory hearing loss" OR "Autosomal recessive isolated sensorineural deafness" OR "Autosomal recessive isolated sensorineural hearing loss" OR "Autosomal recessive non-syndromic genetic hearing loss" OR "Autosomal recessive non-syndromic neurosensory deafness" OR "Autosomal recessive non-syndromic neurosensory hearing loss" OR "Autosomal recessive non-syndromic sensorineural deafness" OR "Autosomal recessive non-syndromic sensorineural hearing loss" OR "Non-syndromic genetic DFNB" OR "hearing loss, autosomal recessive"
MeSH descriptor terms unioned into the query: Deafness, Autosomal Recessive
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal recessive non-syndromic genetic deafness" OR "Autosomal recessive isolated neurosensory deafness" OR "Autosomal recessive isolated neurosensory hearing loss" OR "Autosomal recessive isolated sensorineural deafness" OR "Autosomal recessive isolated sensorineural hearing loss" OR "Autosomal recessive non-syndromic genetic hearing loss" OR "Autosomal recessive non-syndromic neurosensory deafness" OR "Autosomal recessive non-syndromic neurosensory hearing loss" OR "Autosomal recessive non-syndromic sensorineural deafness" OR "Autosomal recessive non-syndromic sensorineural hearing loss" OR "Non-syndromic genetic DFNB" OR "hearing loss, autosomal recessive" OR "Deafness, Autosomal Recessive" OR "ADCY1" OR "LMX1A" OR "PDZD7" OR "PPIP5K2" OR "PTPRQ" OR "SLC22A4" OR "TMEM132E" OR "TRIOBP" OR "WBP2" OR "nonsyndromic genetic hearing loss" OR "autosomal genetic disease"
Recall-expansion terms: ADCY1, LMX1A, PDZD7, PPIP5K2, PTPRQ, SLC22A4, TMEM132E, TRIOBP, WBP2, nonsyndromic genetic hearing loss, autosomal genetic disease
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 2026-07-27T03:52:21.210Z