Heart Conduction Disease disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: HRT008 MIFTS: 32	Heart Conduction Disease Categories: Cardiovascular diseases
Genes Tissues Related diseases Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Heart Conduction Disease

MalaCards integrated aliases for Heart Conduction Disease:

Name: Heart Conduction Disease ¹² ¹⁵

Conduction Disorder of the Heart ²⁹ ⁶ ⁴⁰ ⁷³

Heart Rhythm Disease ¹²

Classifications:

MalaCards categories:
Anatomical: Cardiovascular diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:10273

ICD9CM ³⁵ 426.6

UMLS ⁷³ C0029630 C0264886

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Summaries for Heart Conduction Disease

Disease Ontology : ¹² A cardiovascular system disease that involves the heart's electrical conduction system.

MalaCards based summary : Heart Conduction Disease, also known as conduction disorder of the heart, is related to progressive familial heart block, type ia and cardiac conduction defect, and has symptoms including chest pain An important gene associated with Heart Conduction Disease is AKAP10 (A-Kinase Anchoring Protein 10), and among its related pathways/superpathways are Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways and Potassium Channels. Affiliated tissues include heart, and related phenotypes are cardiovascular system and homeostasis/metabolism

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Related Diseases for Heart Conduction Disease

Diseases related to Heart Conduction Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 75)

#	Related Disease	Score	Top Affiliating Genes
1	progressive familial heart block, type ia	32.4	SCN5A GJA5
2	cardiac conduction defect	32.1	SCN5A RYR2 KCNQ1 KCNH2 AKAP10
3	sinoatrial node disease	31.7	SHOX2 SCN5A HCN4 GJA5
4	catecholaminergic polymorphic ventricular tachycardia	31.6	SCN5A RYR2 KCNH2 CASQ2
5	brugada syndrome	31.5	SCN5A KCNQ1 KCNH2 KCNA5 HCN4
6	atrioventricular block	31.4	SCN5A NPPB KCNQ1 KCNH2 HCN4
7	atrial fibrillation	30.4	VKORC1 SHOX2 SCN5A RYR2 NPPB KCNQ1
8	short qt syndrome	10.9
9	progressive familial heart block	10.9
10	postural orthostatic tachycardia syndrome	10.9
11	atrial standstill	10.3	SCN5A GJA5
12	familial sick sinus syndrome	10.3	SCN5A HCN4
13	first-degree atrioventricular block	10.2	SCN5A GJA5
14	subacute cutaneous lupus erythematosus	10.2	TRIM21 ACE
15	brugada syndrome 1	10.2	SCN5A KCNH2 KCNA5
16	hepatoportal sclerosis	10.2	F2 ACE
17	long qt syndrome 13	10.2	SCN5A KCNQ1 KCNH2
18	long qt syndrome 12	10.2	SCN5A KCNQ1 KCNH2
19	malignant otitis externa	10.2	F2 CRP
20	long qt syndrome 3	10.2	SCN5A KCNQ1 KCNH2
21	jervell and lange-nielsen syndrome 1	10.2	SCN5A KCNQ1 KCNH2
22	generalized atherosclerosis	10.2	CRP ACE
23	familial short qt syndrome	10.2	KCNQ1 KCNH2
24	extrinsic cardiomyopathy	10.2	TNNI3K CRP ACE
25	left bundle branch hemiblock	10.2	SCN5A NPPB ACE
26	ventricular fibrillation, paroxysmal familial, 1	10.2	SCN5A RYR2 KCNQ1 KCNH2
27	andersen cardiodysrhythmic periodic paralysis	10.2	SCN5A RYR2 KCNQ1 KCNH2
28	cardiac arrhythmia	10.2	SCN5A RYR2 KCNQ1 KCNH2
29	long qt syndrome 2	10.2	SCN5A RYR2 KCNQ1 KCNH2
30	anterolateral myocardial infarction	10.2	NPPB ACE
31	arteritic anterior ischemic optic neuropathy	10.2	F2 CRP ACE
32	acquired metabolic disease	10.2	TNNI3K CRP ACE
33	abdominal tuberculosis	10.2	F2 CRP
34	ischemic heart disease	10.2	NPPB CRP ACE
35	intermittent claudication	10.2	F2 CRP ACE
36	systolic heart failure	10.2	NPPB CRP ACE
37	orbital disease	10.1	TNNI3K CRP
38	angina pectoris	10.1	NPPB CRP ACE
39	immune system disease	10.1	TRIM21 CRP ACE
40	heart valve disease	10.1	NPPB CRP ACE
41	sick sinus syndrome	10.1	SHOX2 SCN5A HCN4 F2
42	coronary stenosis	10.1	NPPB CRP ACE
43	systemic scleroderma	10.1	TRIM21 CRP ACE
44	arrhythmogenic right ventricular cardiomyopathy	10.1	SCN5A RYR2 KCNH2 HCN4
45	blue toe syndrome	10.1	F2 CRP
46	left ventricular noncompaction	10.1	SCN5A RYR2 KCNQ1 HCN4
47	sudden infant death syndrome	10.1	SCN5A RYR2 KCNQ1 KCNH2
48	peripheral vascular disease	10.1	F2 CRP ACE
49	aortic valve disease 2	10.1	NPPB CRP ACE
50	chronic thromboembolic pulmonary hypertension	10.1	NPPB F2 CRP

Graphical network of the top 20 diseases related to Heart Conduction Disease:

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Symptoms & Phenotypes for Heart Conduction Disease

UMLS symptoms related to Heart Conduction Disease:

chest pain

MGI Mouse Phenotypes related to Heart Conduction Disease:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	10.13	ACE AKAP10 CASQ2 CRP F2 GJA5
2	homeostasis/metabolism	MP:0005376	10	ACE CA5B CASQ2 CRP F2 GJA5
3	mortality/aging	MP:0010768	9.8	ACE AKAP10 CA5B CASQ2 F2 GJA5
4	muscle	MP:0005369	9.28	CASQ2 GJA5 HCN4 KCNA5 KCNH2 KCNQ1

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Drugs & Therapeutics for Heart Conduction Disease

Search Clinical Trials , NIH Clinical Center for Heart Conduction Disease

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Genetic Tests for Heart Conduction Disease

Genetic tests related to Heart Conduction Disease:

#	Genetic test	Affiliating Genes
1	Conduction Disorder of the Heart ²⁹	AKAP10

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Anatomical Context for Heart Conduction Disease

MalaCards organs/tissues related to Heart Conduction Disease:

⁴¹

Heart

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Publications for Heart Conduction Disease

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Genes for Heart Conduction Disease

Genes related to Heart Conduction Disease (1 elite genes):

(show all 26)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	AKAP10	A-Kinase Anchoring Protein 10	Protein Coding	100	Genetic Tests ²⁹
2	SHOX2	Short Stature Homeobox 2	Protein Coding	20.02	DISEASES inferred ¹⁵ ¹⁵
3	SCN5A	Sodium Voltage-Gated Channel Alpha Subunit 5	Protein Coding	19.57	DISEASES inferred ¹⁵
4	SOGA3	SOGA Family Member 3	Protein Coding	19.15	DISEASES inferred ¹⁵ ¹⁵
5	RYR2	Ryanodine Receptor 2	Protein Coding	18.88	DISEASES inferred ¹⁵
6	TNNI3K	TNNI3 Interacting Kinase	Protein Coding	18.41	DISEASES inferred ¹⁵ ¹⁵
7	GJA5	Gap Junction Protein Alpha 5	Protein Coding	18.26	DISEASES inferred ¹⁵
8	KCNA5	Potassium Voltage-Gated Channel Subfamily A Member 5	Protein Coding	18.05	DISEASES inferred ¹⁵
9	CASQ2	Calsequestrin 2	Protein Coding	17.99	DISEASES inferred ¹⁵
10	ACE	Angiotensin I Converting Enzyme	Protein Coding	17.92	DISEASES inferred ¹⁵
11	TRIM21	Tripartite Motif Containing 21	Protein Coding	17.79	DISEASES inferred ¹⁵
12	KCNH2	Potassium Voltage-Gated Channel Subfamily H Member 2	Protein Coding	17.67	DISEASES inferred ¹⁵
13	KCNQ1	Potassium Voltage-Gated Channel Subfamily Q Member 1	Protein Coding	17.63	DISEASES inferred ¹⁵
14	HCN4	Hyperpolarization Activated Cyclic Nucleotide Gated Potassium Channel 4	Protein Coding	17.55	DISEASES inferred ¹⁵
15	CRP	C-Reactive Protein	Protein Coding	17.42	DISEASES inferred ¹⁵
16	SPATA5	Spermatogenesis Associated 5	Protein Coding	17.42	DISEASES inferred ¹⁵
17	F2	Coagulation Factor II, Thrombin	Protein Coding	17.4	DISEASES inferred ¹⁵
18	NPPB	Natriuretic Peptide B	Protein Coding	17.37	DISEASES inferred ¹⁵
19	VKORC1	Vitamin K Epoxide Reductase Complex Subunit 1	Protein Coding	17.31	DISEASES inferred ¹⁵
20	CA5B	Carbonic Anhydrase 5B	Protein Coding	8.62	DISEASES inferred ¹⁵
21	PCLAF	PCNA Clamp Associated Factor	Protein Coding	8.55	DISEASES inferred ¹⁵
22	TTR	Transthyretin	Protein Coding	7.22	DISEASES inferred ¹⁵
23	KCND3	Potassium Voltage-Gated Channel Subfamily D Member 3	Protein Coding	7.2	DISEASES inferred ¹⁵
24	GJA1	Gap Junction Protein Alpha 1	Protein Coding	7.17	DISEASES inferred ¹⁵
25	KCNE1	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 1	Protein Coding	7.15	DISEASES inferred ¹⁵
26	KCNJ2	Potassium Voltage-Gated Channel Subfamily J Member 2	Protein Coding	7.15	DISEASES inferred ¹⁵

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Variations for Heart Conduction Disease

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Expression for Heart Conduction Disease

Search GEO for disease gene expression data for Heart Conduction Disease.

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Pathways for Heart Conduction Disease

Pathways related to Heart Conduction Disease according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways ¹	11.67	KCNH2 KCNQ1 RYR2 SCN5A
2	Potassium Channels ⁶⁶ Show member pathways HCN channels ⁶⁶ Voltage gated Potassium channels ⁶⁶	11.43	HCN4 KCNA5 KCNH2 KCNQ1
3	Antiarrhythmic Pathway, Pharmacodynamics ⁶¹	10.97	CASQ2 GJA5 HCN4 KCNA5 KCNH2 KCNQ1
4	TarBasePathway ¹	10.6	HCN4 KCNQ1
5	Warfarin Pathway, Pharmacodynamics ⁶¹	10.43	F2 VKORC1

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GO Terms for Heart Conduction Disease

Cellular components related to Heart Conduction Disease according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	voltage-gated potassium channel complex	GO:0008076	9.43	KCNA5 KCNH2 KCNQ1
2	junctional sarcoplasmic reticulum membrane	GO:0014701	9.16	CASQ2 RYR2
3	intercalated disc	GO:0014704	9.13	GJA5 KCNA5 SCN5A
4	Z disc	GO:0030018	8.92	CASQ2 KCNA5 RYR2 SCN5A

Biological processes related to Heart Conduction Disease according to GeneCards Suite gene sharing:

(show all 42)

#	Name	GO ID	Score	Top Affiliating Genes
1	ion transmembrane transport	GO:0034220	9.98	CASQ2 KCNQ1 RYR2 SCN5A
2	regulation of ion transmembrane transport	GO:0034765	9.92	HCN4 KCNA5 KCNH2 KCNQ1 SCN5A
3	potassium ion transmembrane transport	GO:0071805	9.9	HCN4 KCNA5 KCNH2 KCNQ1
4	potassium ion transport	GO:0006813	9.88	GJA5 HCN4 KCNA5 KCNH2 KCNQ1
5	regulation of membrane potential	GO:0042391	9.86	HCN4 KCNA5 KCNH2
6	regulation of cardiac conduction	GO:1903779	9.78	CASQ2 RYR2 TNNI3K
7	potassium ion export across plasma membrane	GO:0097623	9.73	KCNA5 KCNH2 KCNQ1
8	regulation of blood vessel diameter	GO:0097746	9.72	ACE GJA5 NPPB
9	potassium ion export	GO:0071435	9.69	KCNA5 KCNH2 KCNQ1
10	membrane depolarization during action potential	GO:0086010	9.68	KCNH2 SCN5A
11	potassium ion homeostasis	GO:0055075	9.68	KCNA5 KCNH2
12	positive regulation of potassium ion transmembrane transport	GO:1901381	9.68	KCNH2 KCNQ1
13	cell communication by electrical coupling involved in cardiac conduction	GO:0086064	9.67	GJA5 RYR2
14	cellular response to epinephrine stimulus	GO:0071872	9.67	KCNQ1 RYR2
15	detection of calcium ion	GO:0005513	9.67	CASQ2 RYR2
16	regulation of membrane repolarization	GO:0060306	9.67	CASQ2 KCNH2 KCNQ1
17	regulation of ventricular cardiac muscle cell membrane repolarization	GO:0060307	9.67	GJA5 KCNH2 KCNQ1 SCN5A
18	regulation of blood coagulation	GO:0030193	9.66	F2 VKORC1
19	membrane depolarization during cardiac muscle cell action potential	GO:0086012	9.66	HCN4 SCN5A
20	membrane repolarization during ventricular cardiac muscle cell action potential	GO:0098915	9.65	KCNH2 KCNQ1
21	membrane repolarization	GO:0086009	9.65	KCNH2 KCNQ1
22	membrane repolarization during cardiac muscle cell action potential	GO:0086013	9.65	KCNH2 KCNQ1
23	cardiac muscle contraction	GO:0060048	9.65	CASQ2 KCNH2 KCNQ1 RYR2 SCN5A
24	regulation of atrial cardiac muscle cell membrane depolarization	GO:0060371	9.64	GJA5 SCN5A
25	cellular response to caffeine	GO:0071313	9.64	CASQ2 RYR2
26	membrane repolarization during action potential	GO:0086011	9.63	KCNH2 KCNQ1
27	regulation of ventricular cardiac muscle cell membrane depolarization	GO:0060373	9.63	GJA5 SCN5A
28	atrial cardiac muscle cell action potential	GO:0086014	9.63	KCNA5 KCNQ1 SCN5A
29	membrane depolarization during SA node cell action potential	GO:0086046	9.62	HCN4 SCN5A
30	regulation of cardiac muscle contraction	GO:0055117	9.62	GJA5 HCN4 RYR2 TNNI3K
31	membrane repolarization during atrial cardiac muscle cell action potential	GO:0098914	9.61	KCNA5 KCNQ1
32	regulation of atrial cardiac muscle cell membrane repolarization	GO:0060372	9.61	KCNA5 KCNQ1 SCN5A
33	AV node cell to bundle of His cell communication	GO:0086067	9.59	GJA5 SCN5A
34	regulation of atrial cardiac muscle cell action potential	GO:0098910	9.58	GJA5 RYR2
35	regulation of AV node cell action potential	GO:0098904	9.58	GJA5 RYR2
36	SA node cell action potential	GO:0086015	9.58	GJA5 HCN4 SCN5A
37	Purkinje myocyte to ventricular cardiac muscle cell signaling	GO:0086029	9.57	CASQ2 RYR2
38	regulation of heart rate	GO:0002027	9.55	CASQ2 HCN4 RYR2 SCN5A TNNI3K
39	ventricular cardiac muscle cell action potential	GO:0086005	9.35	GJA5 KCNH2 KCNQ1 RYR2 SCN5A
40	regulation of heart rate by cardiac conduction	GO:0086091	9.1	GJA5 HCN4 KCNA5 KCNH2 KCNQ1 SCN5A
41	ion transport	GO:0006811	10.1	HCN4 KCNA5 KCNH2 KCNQ1 RYR2 SCN5A
42	transmembrane transport	GO:0055085	10.08	GJA5 HCN4 KCNA5 KCNH2 KCNQ1 RYR2

Molecular functions related to Heart Conduction Disease according to GeneCards Suite gene sharing:

(show all 14)

#	Name	GO ID	Score	Top Affiliating Genes
1	ion channel binding	GO:0044325	9.71	KCNQ1 RYR2 SCN5A
2	potassium channel activity	GO:0005267	9.62	HCN4 KCNA5 KCNH2 KCNQ1
3	voltage-gated potassium channel activity	GO:0005249	9.56	HCN4 KCNA5 KCNH2 KCNQ1
4	delayed rectifier potassium channel activity	GO:0005251	9.54	KCNA5 KCNH2 KCNQ1
5	protein kinase A regulatory subunit binding	GO:0034237	9.52	KCNQ1 RYR2
6	voltage-gated sodium channel activity	GO:0005248	9.51	HCN4 SCN5A
7	outward rectifier potassium channel activity	GO:0015271	9.49	KCNA5 KCNQ1
8	protein kinase A catalytic subunit binding	GO:0034236	9.48	KCNQ1 RYR2
9	voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	GO:1902282	9.46	KCNH2 KCNQ1
10	scaffold protein binding	GO:0097110	9.46	KCNA5 KCNH2 KCNQ1 SCN5A
11	voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization	GO:0086008	9.43	KCNH2 KCNQ1
12	voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization	GO:0086089	9.4	KCNA5 KCNQ1
13	ion channel activity	GO:0005216	9.35	HCN4 KCNA5 KCNH2 RYR2 SCN5A
14	voltage-gated ion channel activity	GO:0005244	9.02	HCN4 KCNA5 KCNH2 KCNQ1 SCN5A

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