MCID: SNT004
MIFTS: 16

Sinoatrial Node Dysfunction and Deafness

Categories: Genetic diseases, Ear diseases, Rare diseases

Aliases & Classifications for Sinoatrial Node Dysfunction and Deafness

MalaCards integrated aliases for Sinoatrial Node Dysfunction and Deafness:

Name: Sinoatrial Node Dysfunction and Deafness 57 59 75 29 13 6 73
Sandd 57 75
Dysfunction, Node, Sinoatrial and Deafness 40
Arrhythmia, Sinus 44

Characteristics:

Orphanet epidemiological data:

59
sinoatrial node dysfunction and deafness
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
sinoatrial node dysfunction and deafness:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 614896
Orphanet 59 ORPHA324321
MeSH 44 D001146
UMLS 73 C3554018

Summaries for Sinoatrial Node Dysfunction and Deafness

OMIM : 57 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 discussion of another deafness syndrome with impaired cardiac conduction. (614896)

MalaCards based summary : Sinoatrial Node Dysfunction and Deafness, is also known as sandd, and has symptoms including syncopal episode An important gene associated with Sinoatrial Node Dysfunction and Deafness is CACNA1D (Calcium Voltage-Gated Channel Subunit Alpha1 D). Related phenotypes are hearing impairment and bradycardia

UniProtKB/Swiss-Prot : 75 Sinoatrial node dysfunction and deafness: A disease characterized by congenital severe to profound deafness without vestibular dysfunction, associated with episodic syncope due to intermittent pronounced bradycardia.

Related Diseases for Sinoatrial Node Dysfunction and Deafness

Symptoms & Phenotypes for Sinoatrial Node Dysfunction and Deafness

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
bradycardia
syncopal episodes
sinoatrial node dysfunction

Head And Neck Ears:
deafness, congenital sensorineural, severe to profound


Clinical features from OMIM:

614896

Human phenotypes related to Sinoatrial Node Dysfunction and Deafness:

32
# Description HPO Frequency HPO Source Accession
1 hearing impairment 32 HP:0000365
2 bradycardia 32 HP:0001662

UMLS symptoms related to Sinoatrial Node Dysfunction and Deafness:


syncopal episode

Drugs & Therapeutics for Sinoatrial Node Dysfunction and Deafness

Search Clinical Trials , NIH Clinical Center for Sinoatrial Node Dysfunction and Deafness

Cochrane evidence based reviews: arrhythmia, sinus

Genetic Tests for Sinoatrial Node Dysfunction and Deafness

Genetic tests related to Sinoatrial Node Dysfunction and Deafness:

# Genetic test Affiliating Genes
1 Sinoatrial Node Dysfunction and Deafness 29 CACNA1D

Anatomical Context for Sinoatrial Node Dysfunction and Deafness

Publications for Sinoatrial Node Dysfunction and Deafness

Variations for Sinoatrial Node Dysfunction and Deafness

ClinVar genetic disease variations for Sinoatrial Node Dysfunction and Deafness:

6
(show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 CACNA1D NM_000720.3(CACNA1D): c.1208_1209insGGG (p.Gly403_Val404insGly) insertion Pathogenic rs398122827 GRCh37 Chromosome 3, 53707831: 53707832
2 CACNA1D NM_000720.3(CACNA1D): c.1208_1209insGGG (p.Gly403_Val404insGly) insertion Pathogenic rs398122827 GRCh38 Chromosome 3, 53673804: 53673805
3 CACNA1D NM_000720.3(CACNA1D): c.1104T> C (p.Asp368=) single nucleotide variant Benign rs2250736 GRCh37 Chromosome 3, 53700550: 53700550
4 CACNA1D NM_000720.3(CACNA1D): c.1104T> C (p.Asp368=) single nucleotide variant Benign rs2250736 GRCh38 Chromosome 3, 53666523: 53666523
5 CACNA1D NM_000720.3(CACNA1D): c.2760C> T (p.Ser920=) single nucleotide variant Benign rs1045958 GRCh37 Chromosome 3, 53769479: 53769479
6 CACNA1D NM_000720.3(CACNA1D): c.2760C> T (p.Ser920=) single nucleotide variant Benign rs1045958 GRCh38 Chromosome 3, 53735452: 53735452
7 CACNA1D NM_000720.3(CACNA1D): c.1127C> T (p.Ala376Val) single nucleotide variant Pathogenic rs759274321 GRCh37 Chromosome 3, 53707750: 53707750
8 CACNA1D NM_000720.3(CACNA1D): c.1127C> T (p.Ala376Val) single nucleotide variant Pathogenic rs759274321 GRCh38 Chromosome 3, 53673723: 53673723
9 CACNA1D NM_000720.3(CACNA1D): c.2310C> A (p.Ile770=) single nucleotide variant Uncertain significance rs41276445 GRCh38 Chromosome 3, 53730470: 53730470
10 CACNA1D NM_000720.3(CACNA1D): c.2310C> A (p.Ile770=) single nucleotide variant Uncertain significance rs41276445 GRCh37 Chromosome 3, 53764497: 53764497
11 CACNA1D NM_000720.3(CACNA1D): c.2058G> A (p.Leu686=) single nucleotide variant Benign/Likely benign rs146747080 GRCh38 Chromosome 3, 53723897: 53723897
12 CACNA1D NM_000720.3(CACNA1D): c.2058G> A (p.Leu686=) single nucleotide variant Benign/Likely benign rs146747080 GRCh37 Chromosome 3, 53757924: 53757924
13 CACNA1D NM_000720.3(CACNA1D): c.2467-17T> C single nucleotide variant Benign rs2612033 GRCh37 Chromosome 3, 53766026: 53766026
14 CACNA1D NM_000720.3(CACNA1D): c.2467-17T> C single nucleotide variant Benign rs2612033 GRCh38 Chromosome 3, 53731999: 53731999

Expression for Sinoatrial Node Dysfunction and Deafness

Search GEO for disease gene expression data for Sinoatrial Node Dysfunction and Deafness.

Pathways for Sinoatrial Node Dysfunction and Deafness

GO Terms for Sinoatrial Node Dysfunction and Deafness

Sources for Sinoatrial Node Dysfunction and Deafness

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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