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sinoatrial node dysfunction and deafness (SANDD) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

sinoatrial node dysfunction and deafness

MONDO:0013960

Also known as:SANDD

Overview

Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital 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.

GeneticsAutosomal recessive · CACNA1D (chr 3)

OnsetCONGENITAL

ResearchLimited published research (3 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Hearing loss (hearing impairment), Bradycardia, and Increased heart rate variability; and common findings: Syncope. 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	2	Bradycardia, Increased heart rate variability

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

CACNA1D encodes calcium voltage-gated channel subunit alpha1 D (2,161 aa). Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. Highest expression in Pituitary (11.1 TPM) and Lung (8.7 TPM).

Sinoatrial node dysfunction and deafness has been associated with mutations in the CACNA1D gene on chromosome 3.

The CACNA1D protein participates in CACNA1D:CACNA2D2:CACNB2 (Cav1.3 channel) transports Ca2+ into the cytosol of an inner hair cell pathway.

CACNA1D is classified as a druggable target (Clinically Actionable, Druggable Genome, and Ion Channel categories) with score 1.2.

Diagnosis

Genetic testing for CACNA1D is available. Testing is considered supportive for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 1 common feature.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for sinoatrial node dysfunction and deafness.

3 publications have been identified in PubMed for sinoatrial node dysfunction and deafness. Research spans Basic Science / Preclinical (100%).

Recent Publications

Torre E (2026). [PMID: 41342134](https://pubmed.ncbi.nlm.nih.gov/41342134/). *Circulation research*. [Basic Science / Preclinical]
Munyao W (2025). [PMID: 40581120](https://pubmed.ncbi.nlm.nih.gov/40581120/). *The Journal of biological chemistry*. [Basic Science / Preclinical]
Reisqs JB (2025). [PMID: 40564095](https://pubmed.ncbi.nlm.nih.gov/40564095/). *Biomedicines*. [Basic Science / Preclinical]

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 1:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614896

Orphanet

European rare disease database

Orphanet:324321

GARD

Genetic and Rare Diseases Info Center

GARD:17484

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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sinoatrial node dysfunction and deafness

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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