Sinoatrial node dysfunction and deafness

General Information (adopted from Orphanet):

Synonyms, Signs: SANDD
SANDD syndrome
Number of Symptoms 5
OrphanetNr: 324321
OMIM Id: 614896
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 0.1 of 100 000
Inheritance: Autosomal recessive
21131953 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic cardiac rhythm disease
 -Rare cardiac disease
 -Rare genetic disease
Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Comment:

Sinoatrial node dysfunction and deafness is a channelopathy caused by biallelic CACNA1D deficiency characterized by congenital deafness and severely impaired sinoatrial node dysfunction (PMID:21131953).

Symptom Information: Sort by abundance 

1
 (HPO:0000365) Hearing impairment Very frequent [IBIS] 21131953 IBIS 539 / 7739
2
 (HPO:0001279) Syncope 21131953 IBIS 94 / 7739
3
 (HPO:0001662) Bradycardia Very frequent [IBIS] 21131953 IBIS 41 / 7739
4
 (HPO:0011702) Abnormal electrophysiology of sinoatrial node origin Very frequent [IBIS] 21131953 IBIS 4 / 7739
5
 (HPO:0005150) Abnormal atrioventricular conduction 21131953 IBIS 16 / 7739

Associated genes:

CACNA1D;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
CACNA1D rs398122827 pathogenic RCV000032914.27

Additional Information:

Description: (OMIM) Patients with sinoatrial node dysfunction and deafness have congenital severe to profound deafness without vestibular dysfunction, associated with episodic syncope due to intermittent pronounced bradycardia (Baig et al., 2011).

See Jervell and Lange-Nielsen syndrome (220400) for ...
Clinical Description OMIM Baig et al. (2011) studied 2 consanguineous Pakistani families in which affected individuals had congenital deafness that was severe (71- to 95-dB loss) to profound (greater than 95-dB loss), without vestibular dysfunction. Three brothers and a sister were ...
Molecular genetics OMIM In a consanguineous Pakistani family in which 4 sibs had congenital deafness and bradycardia mapping to chromosome 3p21, Baig et al. (2011) sequenced the candidate gene CACNA1D (114206) and identified homozygosity for a 3-bp insertion (114206.0001) that segregated ...