ORPHA:90625
X-linked non-syndromic genetic deafness
Also known as: X-linked non-syndromic sensorineural deafness · X-linked non-syndromic sensorineural hearing loss · Non-syndromic genetic DFNX · X-linked isolated neurosensory deafness · X-linked isolated neurosensory hearing loss · X-linked isolated sensorineural deafness · X-linked isolated sensorineural hearing loss · X-linked non-syndromic genetic hearing loss · X-linked non-syndromic neurosensory deafness · X-linked non-syndromic neurosensory hearing loss
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
16
27.5th percentile
Trials
0
Interventional, condition-specific
Researchers
141
Distinct authors in sample
Gene link
—
Readiness
1/6
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:0019586
- UMLS:C5680192
Additional Mondo synonyms (4)
X-linked isolated neurosensory hearing loss type DFN · X-linked isolated sensorineural hearing loss type DFN · X-linked non-syndromic neurosensory hearing loss type DFN · X-linked non-syndromic sensorineural hearing loss type DFN
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
16 matched papers (10 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
16
16 papers have ever been indexed 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.
16 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).
10 in the last 10 years · high confidence · 27.5th percentile (publications denominator)
Phrase hits: 16 · MeSH hits: 0
Who's working on it?
141
Distinct author names in 16 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.
- 01Heon E2 papers · 2026
Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
Papers in Europe PMC - 02van Kuilenburg AB2 papers · 2015
Labratory of Genetic Metabolic Diseases, Academic Medical Center, Amsterdam, The Netherlands.
Papers in Europe PMC - 03Varshney GK2 papers · 2020
Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, United States. Electronic address: Gaurav-Varshney@omrf.org.
Papers in Europe PMC - 04Acket B1 paper · 2019
CHU Toulouse, Explorations neurophysiologiques, Centre SLA, Centre de référence de pathologie neuromusculaire, Toulouse, France.
Papers in Europe PMC - 05Al-Maawali A1 paper · 2015
1] Department of Paediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada [2] Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Sultan Qaboos University, Muscat, Oman.
Papers in Europe PMC - 06Al-Murshedi F1 paper · 2015
Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Sultan Qaboos University, Muscat, Oman.
Papers in Europe PMC - 07Almoguera B1 paper · 2014
Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA. castillob@email.chop.edu.
Papers in Europe PMC - 08Alsalamah AK1 paper · 2026
Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, ON, Canada; Department of Ophthalmology, the Hospital for Sick Children, Toronto, ON, Canada; Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
Papers in Europe PMC - 09Arne-Bes MC1 paper · 2019
CHU Toulouse, Explorations neurophysiologiques, Centre SLA, Centre de référence de pathologie neuromusculaire, Toulouse, France.
Papers in Europe PMC - 10Ayuso C1 paper · 2014
Department of Genetics and Genomics, IIS-Fundación Jiménez Díaz University Hospital (IISFJD, UAM), 28040, Madrid, Spain. cayuso@fjd.es.
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.
"X-linked non-syndromic genetic deafness" OR "X-linked non-syndromic sensorineural deafness" OR "X-linked non-syndromic sensorineural hearing loss" OR "Non-syndromic genetic DFNX" OR "X-linked isolated neurosensory deafness" OR "X-linked isolated neurosensory hearing loss" OR "X-linked isolated sensorineural deafness" OR "X-linked isolated sensorineural hearing loss" OR "X-linked non-syndromic genetic hearing loss" OR "X-linked non-syndromic neurosensory deafness" OR "X-linked non-syndromic neurosensory hearing loss" OR "X-linked isolated neurosensory hearing loss type DFN" OR "X-linked isolated sensorineural hearing loss type DFN" OR "X-linked non-syndromic neurosensory hearing loss type DFN" OR "X-linked non-syndromic sensorineural hearing loss type DFN"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"X-linked non-syndromic genetic deafness" OR "X-linked non-syndromic sensorineural deafness" OR "X-linked non-syndromic sensorineural hearing loss" OR "Non-syndromic genetic DFNX" OR "X-linked isolated neurosensory deafness" OR "X-linked isolated neurosensory hearing loss" OR "X-linked isolated sensorineural deafness" OR "X-linked isolated sensorineural hearing loss" OR "X-linked non-syndromic genetic hearing loss" OR "X-linked non-syndromic neurosensory deafness" OR "X-linked non-syndromic neurosensory hearing loss" OR "X-linked isolated neurosensory hearing loss type DFN" OR "X-linked isolated sensorineural hearing loss type DFN" OR "X-linked non-syndromic neurosensory hearing loss type DFN" OR "X-linked non-syndromic sensorineural hearing loss type DFN" OR "nonsyndromic genetic hearing loss"
Recall-expansion terms: nonsyndromic genetic hearing loss
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; 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
Ingested 2026-07-27T03:51:54.207Z