Sinoatrial Node Disease disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: SNT005 MIFTS: 33	Sinoatrial Node Disease Categories: Cardiovascular diseases, Muscle diseases
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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:

MalaCards categories:
Anatomical: Cardiovascular diseases Muscle diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0050824

UMLS ⁷³ C0428908

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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...

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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:

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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

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Drugs & Therapeutics for Sinoatrial Node Disease

Search Clinical Trials , NIH Clinical Center for Sinoatrial Node Disease

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Genetic Tests for Sinoatrial Node Disease

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Anatomical Context for Sinoatrial Node Disease

MalaCards organs/tissues related to Sinoatrial Node Disease:

⁴¹

Heart

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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 )	Kennedy J....McGlinchey P.G.	2018
2	Fibrosis, electrics and genetics. Perspectives in sinoatrial node disease. ( 24837708 )	Morris G.M....Kalman J.M.	2014
3	Atrioventricular conduction disturbances in patients with sinoatrial node disease and atrial pacing. ( 1279602 )	Swiatecka G....Raczak G.	1992
4	Immunoblastic lymphoma presenting with syncope due to sinoatrial node disease. ( 2371193 )	Dolan G....Reilly J.T.	1990
5	Pacemaker therapy in symptomatic sinoatrial node disease (sick sinus syndrome). ( 266032 )	Chen J.J....Hsieh Y.Y.	1977

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Genes for Sinoatrial Node Disease

Genes related to Sinoatrial Node Disease (0 elite genes):

(show all 12)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	SHOX2	Short Stature Homeobox 2	Protein Coding	20.43	DISEASES inferred ¹⁵ ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
2	HCN4	Hyperpolarization Activated Cyclic Nucleotide Gated Potassium Channel 4	Protein Coding	18.43	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	SCN5A	Sodium Voltage-Gated Channel Alpha Subunit 5	Protein Coding	17.78	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	GJC1	Gap Junction Protein Gamma 1	Protein Coding	16.46	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	TBX3	T-Box 3	Protein Coding	16.4	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	GJA5	Gap Junction Protein Alpha 5	Protein Coding	16.08	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
7	MYH6	Myosin Heavy Chain 6	Protein Coding	15.97	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
8	TBX18	T-Box 18	Protein Coding	15.81	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
9	KCNJ3	Potassium Voltage-Gated Channel Subfamily J Member 3	Protein Coding	15.58	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
10	HCN2	Hyperpolarization Activated Cyclic Nucleotide Gated Potassium And Sodium Channel 2	Protein Coding	15.52	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
11	CYP27B1	Cytochrome P450 Family 27 Subfamily B Member 1	Protein Coding	15.17	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
12	GJA1	Gap Junction Protein Alpha 1	Protein Coding	15.05	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)

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Variations for Sinoatrial Node Disease

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Expression for Sinoatrial Node Disease

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

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Pathways for Sinoatrial Node Disease

Pathways related to Sinoatrial Node Disease according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	G-Beta Gamma Signaling ⁶⁴ Show member pathways CRHR Pathway ⁶⁴ GHRH Signaling ⁶⁴ Hedgehog Signaling in Mammals ⁶⁴ Relaxin Pathway ⁶⁴ Signaling in Gap Junctions ⁶⁴	12.59	GJA1 GJA5 GJC1 KCNJ3 SCN5A
2	Myometrial Relaxation and Contraction Pathways ¹ Show member pathways Calcium Regulation in the Cardiac Cell ¹	11.95	GJA1 GJA5 GJC1 KCNJ3
3	Potassium Channels ⁶⁶ Show member pathways HCN channels ⁶⁶ Voltage gated Potassium channels ⁶⁶	11.71	HCN2 HCN4 KCNJ3
4	Gap junction trafficking ⁶⁶ Show member pathways Entry of Influenza Virion into Host Cell via Endocytosis ⁶⁶ Formation of annular gap junctions ⁶⁶ Gap junction assembly ⁶⁶ Gap junction degradation ⁶⁶ Gap junction trafficking and regulation ⁶⁶	11.42	GJA1 GJA5 GJC1
5	Cell adhesion_Endothelial cell contacts by junctional mechanisms ²²	10.91	GJA1 GJA5
6	Antiarrhythmic Pathway, Pharmacodynamics ⁶¹	10.85	GJA1 GJA5 HCN2 HCN4 KCNJ3 SCN5A
7	TarBasePathway ¹	10.41	GJA1 HCN2 HCN4

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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

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Sources for Sinoatrial Node Disease

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