SANDD
MCID: SNT004
MIFTS: 26

Sinoatrial Node Dysfunction and Deafness (SANDD)

Categories: Ear diseases, Fetal diseases, Genetic 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 58 72 29 13 6 70
Sandd 57 72
Sinoatrial Node Dysfunction and Hearing Loss 58
Dysfunction, Node, Sinoatrial and Deafness 39
Arrhythmia, Sinus 44

Characteristics:

Orphanet epidemiological data:

58
sinoatrial node dysfunction and deafness
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
sinoatrial node dysfunction and deafness:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 614896
MeSH 44 D001146
Orphanet 58 ORPHA324321
UMLS 70 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) (Updated 05-Apr-2021)

MalaCards based summary : Sinoatrial Node Dysfunction and Deafness, also known as sandd, is related to branchiootic syndrome 1 and syncope, 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). The drug Digitalis has been mentioned in the context of this disorder. Related phenotypes are hearing impairment and bradycardia

UniProtKB/Swiss-Prot : 72 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

Diseases related to Sinoatrial Node Dysfunction and Deafness via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 branchiootic syndrome 1 10.2
2 syncope 10.2

Symptoms & Phenotypes for Sinoatrial Node Dysfunction and Deafness

Human phenotypes related to Sinoatrial Node Dysfunction and Deafness:

31
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 HP:0000365
2 bradycardia 31 HP:0001662

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Cardiovascular Heart:
bradycardia
syncopal episodes
sinoatrial node dysfunction

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

Clinical features from OMIM®:

614896 (Updated 05-Apr-2021)

UMLS symptoms related to Sinoatrial Node Dysfunction and Deafness:


syncopal episode

Drugs & Therapeutics for Sinoatrial Node Dysfunction and Deafness

Drugs for Sinoatrial Node Dysfunction and Deafness (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Digitalis Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Investigational New Drug Application/ Investigational Device Exemption Information Completed NCT00239226 Phase 4
2 EnPulse Trial on Search AV+ Influence Terminated NCT00157794 Phase 4
3 Digitalis Investigation Group (DIG) Completed NCT00000476 Phase 3 digitalis
4 Identification of Gene Polymorphism in Patients With Sick Sinus Syndrome in Chinese Population in Taiwan Unknown status NCT00314223
5 uPHI: Wireless Body Area Network Core Technology Unknown status NCT01200667
6 The Influence of Iatrogenic Chronotropic Incompetence on Exercise Tolerance in Pacemaker Patients With Chronic Heart Failure. Completed NCT02247245 Ivabradine;Placebo
7 Characterization of Sleep With Trauma Nightmares Using Ambulatory Sleep Measurement Recruiting NCT03974503
8 A Randomized Controlled Trial to Improve Biobehavioral Regulation Among High-Adversity Mothers and Young Children Not yet recruiting NCT04241913

Search 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

Articles related to Sinoatrial Node Dysfunction and Deafness:

# Title Authors PMID Year
1
Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness. 57 6 61
21131953 2011
2
Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance. 6 61
30498240 2019
3
Neurologic complications of genetic channelopathies. 61
33632437 2021
4
Rescuing cardiac automaticity in L-type Cav1.3 channelopathies and beyond. 61
27374078 2016
5
What can naturally occurring mutations tell us about Ca(v)1.x channel function? 61
23219801 2013

Variations for Sinoatrial Node Dysfunction and Deafness

ClinVar genetic disease variations for Sinoatrial Node Dysfunction and Deafness:

6 (show all 13)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CACNA1D NM_001128840.3(CACNA1D):c.1220+678_1220+679insGGG Insertion Pathogenic/Likely pathogenic 39709 rs398122827 GRCh37: 3:53707829-53707830
GRCh38: 3:53673802-53673803
2 CACNA1D NM_001128840.3(CACNA1D):c.1220+597C>T SNV Pathogenic/Likely pathogenic 402284 rs759274321 GRCh37: 3:53707750-53707750
GRCh38: 3:53673723-53673723
3 CACNA1D NM_001128840.3(CACNA1D):c.2248A>T (p.Ile750Phe) SNV Likely pathogenic 801978 rs1576484361 GRCh37: 3:53764495-53764495
GRCh38: 3:53730468-53730468
4 CACNA1D NM_001128840.3(CACNA1D):c.1478+331C>T SNV Uncertain significance 801976 rs1576451128 GRCh37: 3:53752746-53752746
GRCh38: 3:53718719-53718719
5 CACNA1D NM_001128840.3(CACNA1D):c.2250C>A (p.Ile750=) SNV Uncertain significance 417905 rs41276445 GRCh37: 3:53764497-53764497
GRCh38: 3:53730470-53730470
6 CACNA1D NM_001128840.3(CACNA1D):c.5498A>G (p.Tyr1833Cys) SNV Uncertain significance 634553 rs1559716901 GRCh37: 3:53837512-53837512
GRCh38: 3:53803485-53803485
7 CACNA1D NM_001128840.3(CACNA1D):c.5837G>A (p.Arg1946His) SNV Uncertain significance 634554 rs150366975 GRCh37: 3:53842763-53842763
GRCh38: 3:53808736-53808736
8 CACNA1D NM_001128840.3(CACNA1D):c.1013T>G (p.Val338Gly) SNV Likely benign 801975 rs201471889 GRCh37: 3:53700459-53700459
GRCh38: 3:53666432-53666432
9 CACNA1D NM_001128840.3(CACNA1D):c.1722G>A (p.Met574Ile) SNV Likely benign 801977 rs373740752 GRCh37: 3:53757516-53757516
GRCh38: 3:53723489-53723489
10 CACNA1D NM_001128840.3(CACNA1D):c.1998G>A (p.Leu666=) SNV Likely benign 504766 rs146747080 GRCh37: 3:53757924-53757924
GRCh38: 3:53723897-53723897
11 CACNA1D NM_001128840.3(CACNA1D):c.2407-17T>C SNV Benign 518347 rs2612033 GRCh37: 3:53766026-53766026
GRCh38: 3:53731999-53731999
12 CACNA1D NM_001128840.3(CACNA1D):c.2700C>T (p.Ser900=) SNV Benign 226470 rs1045958 GRCh37: 3:53769479-53769479
GRCh38: 3:53735452-53735452
13 CACNA1D NM_001128840.3(CACNA1D):c.1104T>C (p.Asp368=) SNV Benign 226467 rs2250736 GRCh37: 3:53700550-53700550
GRCh38: 3:53666523-53666523

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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