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ORPHA:90636

Autosomal recessive non-syndromic genetic deafness

low confidenceSubtype of disorder

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

4,644

Trials

0

Interventional, condition-specific

Researchers

786

Distinct authors in sample

Gene link

ADCY1, LMX1A, PDZD7

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 (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.”

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 — ADCY1, LMX1A, PDZD7, PPIP5K2, PTPRQ…

  2. LiteraturePresent

    4,644 matched papers (3,192 in last 10 years) Source

  3. Phenotype characterisedPresent

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

  4. Animal modelPresent

    63 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 (ADCY1, LMX1A, PDZD7…).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

207

Associated phenotypes · MONDO:0019588

  • Male infertility
  • Sensorineural hearing impairment
  • Profound sensorineural hearing impairment
  • Abnormal vestibular function
  • Absence of acoustic reflex

Showing 5 of 207 — open Monarch for the full list.

Animal models (Monarch / Alliance)

63

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?

4,644

4,644 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

4,644 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).

3,192 in the last 10 years · low confidence

Phrase hits: 82 · MeSH hits: 26

Open Europe PMC search

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.

  1. 01
    Liu H4 papers · 2024

    Gansu Provincial Maternity and Child-care Hospital, Lanzhou, China.

    Papers in Europe PMC
  2. 02
    Liu 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
  3. 03
    Duman D3 papers · 2022

    Department of Audiology, Ankara University Faculty of Health Sciences, Ankara, Turkey.

    Papers in Europe PMC
  4. 04
    Nishio 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
  5. 05
    Tekin M3 papers · 2022

    John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.

    Papers in Europe PMC
  6. 06
    Yang 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
  7. 07
    Arzhangi S2 papers · 2016

    Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

    Papers in Europe PMC
  8. 08
    Avraham KB2 papers · 2003
    Papers in Europe PMC
  9. 09
    Azaiez H2 papers · 2021

    Department of Otolaryngology, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.

    Papers in Europe PMC
  10. 10
    Bademci 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 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 recessive 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 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 (MESH:"Deafness, Autosomal Recessive") OR ("ADCY1" OR "ADCY1 syndrome" OR "ADCY1-related" OR "LMX1A" OR "LMX1A syndrome" OR "LMX1A-related" OR "PDZD7" OR "PDZD7 syndrome" OR "PDZD7-related")

Run this search on Europe PMC

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"

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 (4644) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T03:52:21.210Z