RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:217622

Sensorineural deafness with dilated cardiomyopathy

high confidenceDisorder

Also known as: Neurosensory deafness with dilated cardiomyopathy · Neurosensory hearing loss with dilated cardiomyopathy · Sensorineural hearing loss with dilated cardiomyopathy

Query health: suspect — Only one of 3 strategies returned hits (phrase).

Publications

19

23.5th percentile

Trials

0

Interventional, condition-specific

Researchers

129

Distinct authors in sample

Gene link

EYA4

Moderate

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Sensorineural deafness with dilated is an extremely rare syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated that generally progresses to heart failure.

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (10)

CMD1J · EYA4 familial dilated cardiomyopathy · cardiomyopathy, dilated, type 1J · dilated cardiomyopathy 1J · dilated cardiomyopathy type 1J · familial dilated cardiomyopathy caused by mutation in EYA4 · neurosensory deafness with dilated cardiomyopathy · neurosensory hearing loss with dilated cardiomyopathy · sensorineural deafness with dilated cardiomyopathy · sensorineural hearing loss with dilated cardiomyopathy

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.”

3/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Moderate — EYA4

  2. LiteraturePresent

    19 matched papers (7 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPartial

    None under the specific name; 135 for broader category dilated cardiomyopathy

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?

Probably — there is moderate evidence for EYA4.

GenCC classification: Moderate.

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?

19

19 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.

19 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).

7 in the last 10 years · high confidence · 23.5th percentile (publications denominator)

Phrase hits: 19 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

129

Distinct author names in 19 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
    Arbustini Eloisa AE2 papers · 2005

    Molecular Diagnostic Laboratory, IRCCS Policlinico San Matteo, Via Forlanini 16, 27100 Pavia, Italy. e.arbustini@smatteo.pv.it

    Papers in Europe PMC
  2. 02
    Diegoli M2 papers · 2005
    Papers in Europe PMC
  3. 03
    Grasso M2 papers · 2005
    Papers in Europe PMC
  4. 04
    Pasotti M2 papers · 2005
    Papers in Europe PMC
  5. 05
    Ankleshwaria C1 paper · 2022

    Department of Internal Medicine, Civil Hospital Ahmedabad, Gujarat, India.

    Papers in Europe PMC
  6. 06
    Aurino S1 paper · 2010
    Papers in Europe PMC
  7. 07
    Barati S1 paper · 2019
    Papers in Europe PMC
  8. 08
    Beckmann JS1 paper · 2001
    Papers in Europe PMC
  9. 09
    Bénaïche A1 paper · 2001
    Papers in Europe PMC
  10. 10
    Benson KF1 paper · 2002

    Department of Biochemistry, Robert Wood Johnson Medical School, University of Medicine and Dentistry of New Jersey, Piscataway, New Jersey 08854, USA. kfbenson@u.washington.edu

    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). 135 trials are registered for dilated cardiomyopathy, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

135 interventional trials matched dilated cardiomyopathy, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: dilated cardiomyopathy

135

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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 2026-07-26

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.

"Sensorineural deafness with dilated cardiomyopathy" OR "Neurosensory deafness with dilated cardiomyopathy" OR "Neurosensory hearing loss with dilated cardiomyopathy" OR "Sensorineural hearing loss with dilated cardiomyopathy" OR "CMD1J" OR "EYA4 familial dilated cardiomyopathy" OR "cardiomyopathy, dilated, type 1J" OR "dilated cardiomyopathy 1J" OR "dilated cardiomyopathy type 1J" OR "familial dilated cardiomyopathy caused by mutation in EYA4"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Cardiomyopathy, Dilated, 1J

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Sensorineural deafness with dilated cardiomyopathy" OR "Neurosensory deafness with dilated cardiomyopathy" OR "Neurosensory hearing loss with dilated cardiomyopathy" OR "Sensorineural hearing loss with dilated cardiomyopathy" OR "CMD1J" OR "EYA4 familial dilated cardiomyopathy" OR "cardiomyopathy, dilated, type 1J" OR "dilated cardiomyopathy 1J" OR "dilated cardiomyopathy type 1J" OR "familial dilated cardiomyopathy caused by mutation in EYA4" OR "Cardiomyopathy, Dilated, 1J" OR "EYA4"

Recall-expansion terms: EYA4

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"dilated cardiomyopathy"

Query health: suspect — strategies attempted: phrase, mesh, 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 2026-07-27T09:52:02.024Z