ORPHA:324321
Sinoatrial node dysfunction and deafness
Also known as: Sinoatrial node dysfunction and hearing loss
Publications
3,250
Trials
0
Interventional, condition-specific
Researchers
455
Distinct authors in sample
Gene link
CACNA1D
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress.
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:0013960
- OMIM:614896
- UMLS:C3554018
Additional Mondo synonyms (1)
sinoatrial node dysfunction and deafness
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 matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — CACNA1D
- LiteraturePresent
3,250 matched papers (2,428 in last 10 years) Source
- Phenotype characterisedPresent
5 HPO annotations (e.g. Syncope; Hearing impairment; Bradycardia) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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 (CACNA1D).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
5
Associated phenotypes · MONDO:0013960
- Syncope
- Hearing impairment
- Bradycardia
- Increased heart rate variability
- Abnormal QRS complex
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
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?
3,250
3,250 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.
3,250 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).
2,428 in the last 10 years · low confidence
Phrase hits: 61 · MeSH hits: 0
Who's working on it?
455
Distinct author names in 61 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.
- 01Striessnig J13 papers · 2024
Department of Physiology and Pharmacology, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada (G.W.Z.); Department of Pharmacology and Toxicology, Institute of Pharmacy, Center for Molecular Biosciences, University of Innsbruck, Innsbruck, Austria (J.S., A.K.); and Department of Neuroscience, Physiology, and Pharmacology, Division of Biosciences, University College London, London, United Kingdom (A.C.D.).
Papers in Europe PMC - 02Koschak A5 papers · 2018
Department of Physiology and Pharmacology, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada (G.W.Z.); Department of Pharmacology and Toxicology, Institute of Pharmacy, Center for Molecular Biosciences, University of Innsbruck, Innsbruck, Austria (J.S., A.K.); and Department of Neuroscience, Physiology, and Pharmacology, Division of Biosciences, University College London, London, United Kingdom (A.C.D.).
Papers in Europe PMC - 03Ortner NJ4 papers · 2024
1Department of Pharmacology and Toxicology, Centre for Molecular Biosciences, University of Innsbruck, Innrain 80/82, 6020 Innsbruck, Austria.
Papers in Europe PMC - 04Lieb A3 papers · 2015
Department of Pharmacology and Toxicology, Institute of Pharmacy, Center for Molecular Biosciences, University of Innsbruck Innsbruck, Austria.
Papers in Europe PMC - 05Mangoni ME3 papers · 2021
Département de Physiologie, Institut de Genomique Fonctionnelle, Laboratory of Excellence in Ion Channel Science and Therapeutics, UMR-5203, CNRS, F-34094 Montpellier, France; INSERM U661, F-34094 Montpellier, France; Université de Montpellier, F-34094 Montpellier, France; pietro.mesirca@igf.cnrs.fr matteo.mangoni@igf.cnrs.fr.
Papers in Europe PMC - 06Sinnegger-Brauns MJ3 papers · 2015
Department of Pharmacology and Toxicology, Institute of Pharmacy, Center for Molecular Biosciences, University of Innsbruck Innsbruck, Austria.
Papers in Europe PMC - 07Tuluc P3 papers · 2023
1Department of Pharmacology and Toxicology, Centre for Molecular Biosciences, University of Innsbruck, Innrain 80/82, 6020 Innsbruck, Austria.
Papers in Europe PMC - 08Bai W2 papers · 2024
Department of Computing, Department of Brain Sciences and Data Science Institute, Imperial College London, London, UK.
Papers in Europe PMC - 09Carbone E2 papers · 2023
Laboratory of Cellular and Molecular Neuroscience, Department of Drug Science, Nanostructured Interfaces and Surfaces Center, University of Torino Torino, Italy.
Papers in Europe PMC - 10Chahine M2 papers · 2023
CERVO Brain Research Center and Department of Medicine, Faculty of Medicine, Université Laval, Quebec City, Quebec, Canada.
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 Sinoatrial node dysfunction and deafness — check Associations / patient organisations on that page.
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.
("Sinoatrial node dysfunction and deafness" OR "Sinoatrial node dysfunction and hearing loss") OR ("CACNA1D" OR "CACNA1D syndrome" OR "CACNA1D-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Sinoatrial node dysfunction and deafness" OR "Sinoatrial node dysfunction and hearing loss"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; 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
- Publication count (3250) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T13:35:24.137Z