MCID: SNT005
MIFTS: 33

Sinoatrial Node Disease

Categories: Cardiovascular diseases, Muscle diseases

Aliases & Classifications for Sinoatrial Node Disease

MalaCards integrated aliases for Sinoatrial Node Disease:

Name: Sinoatrial Node Disease 12 15
Sinus Node Dysfunction 73
Sinuatrial Node 12
Sa Node 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0050824
UMLS 73 C0428908

Summaries for Sinoatrial Node Disease

Disease Ontology : 12 A heart conduction disease that is characterized by dysfunction of the impulse-generating (pacemaker) tissue located in the right atrium of the heart which generates normal sinus rhythm.

MalaCards based summary : Sinoatrial Node Disease, also known as sinus node dysfunction, is related to sick sinus syndrome and long qt syndrome 9. An important gene associated with Sinoatrial Node Disease is SHOX2 (Short Stature Homeobox 2), and among its related pathways/superpathways are G-Beta Gamma Signaling and Myometrial Relaxation and Contraction Pathways. Affiliated tissues include heart, and related phenotypes are cardiovascular system and growth/size/body region

Wikipedia : 76 The sinoatrial node (SA node), also known as sinus node, is a group of cells located in the wall of the... more...

Related Diseases for Sinoatrial Node Disease

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

(show all 21)
# Related Disease Score Top Affiliating Genes
1 sick sinus syndrome 31.8 HCN4 MYH6 SCN5A SHOX2
2 long qt syndrome 9 10.5 HCN4 SCN5A
3 progressive familial heart block, type ia 10.4 GJA5 SCN5A
4 right bundle branch block 10.4 HCN4 SCN5A
5 atrial standstill 10.4 GJA5 SCN5A
6 progressive familial heart block 10.4 GJA5 SCN5A
7 familial sick sinus syndrome 10.1 HCN4 MYH6 SCN5A
8 first-degree atrioventricular block 10.1 GJA5 GJC1 SCN5A
9 ulnar-mammary syndrome 10.1 TBX18 TBX3
10 holt-oram syndrome 10.1 MYH6 SHOX2 TBX3
11 left ventricular noncompaction 10.0 HCN4 MYH6 SCN5A
12 atrial standstill 1 10.0 GJA5 MYH6 SCN5A
13 lymphoma 9.9
14 syncope 9.9
15 heart conduction disease 9.9 GJA5 HCN4 SCN5A SHOX2
16 oculodentodigital dysplasia 9.9 GJA1 GJA5 GJC1
17 cardiomyopathy, dilated, 1e 9.8 GJA1 SCN5A
18 familial isolated dilated cardiomyopathy 9.7 MYH6 SCN5A
19 atrial fibrillation 9.5 GJA1 GJA5 HCN4 SCN5A
20 heart disease 9.1 GJA1 GJA5 MYH6 SCN5A
21 dilated cardiomyopathy 9.0 GJA1 GJA5 MYH6 SCN5A

Comorbidity relations with Sinoatrial Node Disease via Phenotypic Disease Network (PDN): (show all 50)


Acute Cystitis Acute Kidney Failure
Anxiety Aortic Valve Disease 1
Atrioventricular Block Basilar Artery Insufficiency
Benign Essential Hypertension Bronchitis
Cardiac Arrest Cardiac Arrhythmia
Cerebral Atherosclerosis Cerebrovascular Disease
Chronic Kidney Failure Chronic Myocardial Ischemia
Deficiency Anemia Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation
Esophagitis Familial Atrial Fibrillation
First-Degree Atrioventricular Block Generalized Atherosclerosis
Gout Heart Disease
Hypertension, Essential Hypertrophic Cardiomyopathy
Hypoglycemia Hypothyroidism
Idiopathic Peripheral Autonomic Neuropathy Intermediate Coronary Syndrome
Intracranial Embolism Ischemic Heart Disease
Kidney Disease Left Bundle Branch Hemiblock
Malignant Essential Hypertension Mitral Valve Disease
Mitral Valve Stenosis Mobitz Type Ii Atrioventricular Block
Monocular Esotropia Nutmeg Liver
Peripheral Vascular Disease Progressive Familial Heart Block, Type Ia
Pulmonary Hypertension, Primary, 1 Pulmonary Valve Disease
Rheumatic Heart Disease Right Bundle Branch Block
Schizophreniform Disorder Third-Degree Atrioventricular Block
Transient Cerebral Ischemia Tricuspid Valve Disease
Ventricular Fibrillation, Paroxysmal Familial, 1 Vertebral Artery Insufficiency

Graphical network of the top 20 diseases related to Sinoatrial Node Disease:



Diseases related to Sinoatrial Node Disease

Symptoms & Phenotypes for Sinoatrial Node Disease

MGI Mouse Phenotypes related to Sinoatrial Node Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.1 CYP27B1 GJA1 GJA5 GJC1 HCN2 HCN4
2 growth/size/body region MP:0005378 9.76 CYP27B1 GJA1 GJC1 HCN2 SCN5A SHOX2
3 craniofacial MP:0005382 9.65 CYP27B1 GJA1 SHOX2 TBX18 TBX3
4 mortality/aging MP:0010768 9.65 GJA1 GJA5 GJC1 HCN2 HCN4 MYH6
5 muscle MP:0005369 9.28 TBX3 CYP27B1 GJA1 GJA5 GJC1 HCN4

Drugs & Therapeutics for Sinoatrial Node Disease

Search Clinical Trials , NIH Clinical Center for Sinoatrial Node Disease

Genetic Tests for Sinoatrial Node Disease

Anatomical Context for Sinoatrial Node Disease

MalaCards organs/tissues related to Sinoatrial Node Disease:

41
Heart

Publications for Sinoatrial Node Disease

Articles related to Sinoatrial Node Disease:

# Title Authors Year
1
Sinoatrial Node Disease in Adults with Down's Syndrome. ( 29588556 )
2018
2
Fibrosis, electrics and genetics. Perspectives in sinoatrial node disease. ( 24837708 )
2014
3
Atrioventricular conduction disturbances in patients with sinoatrial node disease and atrial pacing. ( 1279602 )
1992
4
Immunoblastic lymphoma presenting with syncope due to sinoatrial node disease. ( 2371193 )
1990
5
Pacemaker therapy in symptomatic sinoatrial node disease (sick sinus syndrome). ( 266032 )
1977

Variations for Sinoatrial Node Disease

Expression for Sinoatrial Node Disease

Search GEO for disease gene expression data for Sinoatrial Node Disease.

Pathways for Sinoatrial Node Disease

GO Terms for Sinoatrial Node Disease

Cellular components related to Sinoatrial Node Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gap junction GO:0005921 9.33 GJA1 GJA5 GJC1
2 T-tubule GO:0030315 9.32 KCNJ3 SCN5A
3 HCN channel complex GO:0098855 9.26 HCN2 HCN4
4 connexin complex GO:0005922 9.13 GJA1 GJA5 GJC1
5 intercalated disc GO:0014704 8.92 GJA1 GJA5 GJC1 SCN5A

Biological processes related to Sinoatrial Node Disease according to GeneCards Suite gene sharing:

(show all 46)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.93 GJA1 GJA5 GJC1 SHOX2
2 regulation of ion transmembrane transport GO:0034765 9.87 HCN2 HCN4 KCNJ3 SCN5A
3 in utero embryonic development GO:0001701 9.86 GJA1 MYH6 TBX3
4 potassium ion transport GO:0006813 9.85 GJA5 HCN2 HCN4 KCNJ3
5 skeletal system development GO:0001501 9.84 GJA5 SHOX2 TBX3
6 sodium ion transport GO:0006814 9.84 HCN2 HCN4 SCN5A
7 sodium ion transmembrane transport GO:0035725 9.82 HCN2 HCN4 SCN5A
8 muscle contraction GO:0006936 9.8 GJA1 GJC1 HCN4 MYH6
9 cell communication GO:0007154 9.78 GJA1 GJA5 GJC1
10 cardiac conduction GO:0061337 9.77 GJA1 GJA5 SCN5A
11 regulation of heart rate GO:0002027 9.73 HCN4 MYH6 SCN5A
12 cardiac muscle contraction GO:0060048 9.7 MYH6 SCN5A
13 regulation of heart contraction GO:0008016 9.69 GJA1 MYH6
14 positive regulation of vasoconstriction GO:0045907 9.69 GJA1 GJA5
15 ventricular septum morphogenesis GO:0060412 9.69 GJA5 TBX3
16 embryonic forelimb morphogenesis GO:0035115 9.68 SHOX2 TBX3
17 positive regulation of blood vessel diameter GO:0097755 9.68 GJA1 GJA5
18 decidualization GO:0046697 9.68 CYP27B1 GJA1
19 regulation of cardiac muscle contraction GO:0055117 9.67 GJA5 HCN4
20 regulation of bone mineralization GO:0030500 9.67 CYP27B1 GJA1
21 ventricular cardiac muscle cell action potential GO:0086005 9.66 GJA5 SCN5A
22 adult heart development GO:0007512 9.65 GJA1 MYH6
23 sodium ion import across plasma membrane GO:0098719 9.65 HCN2 HCN4
24 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.65 GJA1 GJA5
25 embryonic heart tube development GO:0035050 9.65 GJA1 GJA5 TBX3
26 endothelium development GO:0003158 9.63 GJA1 GJA5
27 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.63 GJA1 GJA5 SCN5A
28 cellular response to cGMP GO:0071321 9.62 HCN2 HCN4
29 cell communication by electrical coupling GO:0010644 9.62 GJA1 GJA5
30 membrane depolarization during SA node cell action potential GO:0086046 9.61 HCN4 SCN5A
31 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.61 HCN2 HCN4 SCN5A
32 AV node cell to bundle of His cell communication GO:0086067 9.59 GJA5 SCN5A
33 cell communication by chemical coupling GO:0010643 9.58 GJA1 GJA5
34 AV node cell to bundle of His cell communication by electrical coupling GO:0086053 9.58 GJA5 GJC1
35 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.58 GJA1 GJA5 SCN5A
36 atrial ventricular junction remodeling GO:0003294 9.54 GJA1 GJA5
37 atrial cardiac muscle cell action potential GO:0086014 9.54 GJA1 GJC1 SCN5A
38 positive regulation of cell communication by chemical coupling GO:0010652 9.52 GJA1 GJA5
39 SA node cell to atrial cardiac muscle cell communication by electrical coupling GO:0086021 9.51 GJA5 GJC1
40 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.5 GJA1 GJA5 SCN5A
41 potassium ion import across plasma membrane GO:1990573 9.43 HCN2 HCN4 KCNJ3
42 gap junction assembly GO:0016264 9.33 GJA1 GJA5 GJC1
43 SA node cell action potential GO:0086015 9.13 GJA5 HCN4 SCN5A
44 regulation of heart rate by cardiac conduction GO:0086091 8.92 GJA5 HCN4 KCNJ3 SCN5A
45 transmembrane transport GO:0055085 10.04 GJA1 GJA5 HCN2 HCN4 SCN5A
46 ion transport GO:0006811 10 HCN2 HCN4 KCNJ3 SCN5A

Molecular functions related to Sinoatrial Node Disease according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.67 GJC1 HCN2 HCN4 SCN5A
2 disordered domain specific binding GO:0097718 9.51 GJA1 GJA5
3 cAMP binding GO:0030552 9.49 HCN2 HCN4
4 intracellular cAMP activated cation channel activity GO:0005222 9.48 HCN2 HCN4
5 connexin binding GO:0071253 9.46 GJA1 GJA5
6 voltage-gated ion channel activity GO:0005244 9.46 HCN2 HCN4 KCNJ3 SCN5A
7 gap junction channel activity involved in cardiac conduction electrical coupling GO:0086075 9.43 GJA1 GJA5
8 sodium channel activity GO:0005272 9.43 HCN2 HCN4 SCN5A
9 gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling GO:0086077 9.4 GJA5 GJC1
10 gap junction channel activity involved in SA node cell-atrial cardiac muscle cell electrical coupling GO:0086020 9.32 GJA5 GJC1
11 voltage-gated sodium channel activity GO:0005248 9.13 HCN2 HCN4 SCN5A
12 gap junction channel activity GO:0005243 8.8 GJA1 GJA5 GJC1

Sources for Sinoatrial Node Disease

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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