MCID: HRT008
MIFTS: 32

Heart Conduction Disease

Categories: Cardiovascular diseases

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:



External Ids:

Disease Ontology 12 DOID:10273
ICD9CM 35 426.6

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

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:



Diseases related to Heart Conduction Disease

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

Drugs & Therapeutics for Heart Conduction Disease

Search Clinical Trials , NIH Clinical Center for Heart Conduction Disease

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

Anatomical Context for Heart Conduction Disease

MalaCards organs/tissues related to Heart Conduction Disease:

41
Heart

Publications for Heart Conduction Disease

Variations for Heart Conduction Disease

Expression for Heart Conduction Disease

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

Pathways for Heart Conduction Disease

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

# Super pathways Score Top Affiliating Genes
1 11.67 KCNH2 KCNQ1 RYR2 SCN5A
2
Show member pathways
11.43 HCN4 KCNA5 KCNH2 KCNQ1
3 10.97 CASQ2 GJA5 HCN4 KCNA5 KCNH2 KCNQ1
4 10.6 HCN4 KCNQ1
5 10.43 F2 VKORC1

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

Sources for Heart Conduction 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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