ORPHA:94064
Deafness-infertility syndrome
Also known as: DIS · Hearing loss-infertility syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
110
63.9th percentile
Trials
0
Interventional, condition-specific
Researchers
706
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0012621
- MeSH:C567010
- OMIM:611102
- UMLS:C1970187
Additional Mondo synonyms (3)
deafness and male infertility · deafness-infertility syndrome · dis
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
110 matched papers (86 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?
110
110 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.
110 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).
86 in the last 10 years · medium confidence · 63.9th percentile (publications denominator)
Phrase hits: 110 · MeSH hits: 0
Who's working on it?
706
Distinct author names in 110 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.
- 01Smith RJ10 papers · 2021
Department of Otolaryngology-Head & Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, IA, USA. richard-smith@uiowa.edu.
Papers in Europe PMC - 02Azaiez H7 papers · 2024
Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, 200 Hawkins Drive, Iowa City, IA, 52242, USA.
Papers in Europe PMC - 03Smith RJH7 papers · 2023
Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, 200 Hawkins Drive, Iowa City, IA, 52242, USA. richard-smith@uiowa.edu.
Papers in Europe PMC - 04Tüttelmann F7 papers · 2025
Institute of Reproductive Genetics, University of Münster, Münster, Germany.
Papers in Europe PMC - 05Shearer AE6 papers · 2019
Department of Otolaryngology, Head and Neck Surgery, University of Iowa, Iowa City, IA 52242, USA.
Papers in Europe PMC - 06Kahrizi K5 papers · 2018
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Papers in Europe PMC - 07Najmabadi H5 papers · 2018
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Papers in Europe PMC - 08Brenker C4 papers · 2024
Centre of Reproductive Medicine and Andrology, University Hospital Münster, University of Münster, Münster, Germany. Electronic address: christoph.brenker@ukmuenster.de.
Papers in Europe PMC - 09Kolbe DL4 papers · 2022
Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, 200 Hawkins Drive, Iowa City, IA, 52242, USA.
Papers in Europe PMC - 10Röpke A4 papers · 2024
Institute of Human Genetics, University of Münster, Münster, Germany.
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.
medium 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.
"Deafness-infertility syndrome" OR "Hearing loss-infertility syndrome" OR "deafness and male infertility"
MeSH descriptor terms unioned into the query: Deafness, Sensorineural, And Male Infertility
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Deafness-infertility syndrome" OR "Hearing loss-infertility syndrome" OR "deafness and male infertility" OR "Deafness, Sensorineural, And Male Infertility"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: DIS
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T04:36:38.670Z