LQT9
MCID: LNG053
MIFTS: 44

Long Qt Syndrome 9 (LQT9)

Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Muscle diseases, Rare diseases
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Aliases & Classifications for Long Qt Syndrome 9

MalaCards integrated aliases for Long Qt Syndrome 9:

Name: Long Qt Syndrome 9 57 11 19 73 28 5 43 14 71
Lqt9 57 11 19 73
Qt Syndrome, Long, Type 9 38
Long Qt Syndrome-9 12

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
sudden unexplained infant death (sids) reported in some patients


Classifications:



External Ids:

Disease Ontology 11 DOID:0110650
OMIM® 57 611818
OMIM Phenotypic Series 57 PS192500
ICD10 31 I45.8
MedGen 40 C2678485
UMLS 71 C2678485

Summaries for Long Qt Syndrome 9

OMIM®: 57 Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death (Jongbloed et al., 1999). For a discussion of genetic heterogeneity of long QT syndrome, see LQT1 (192500). (611818) (Updated 08-Dec-2022)

MalaCards based summary: Long Qt Syndrome 9, also known as lqt9, is related to hypokalemia and long qt syndrome 2. An important gene associated with Long Qt Syndrome 9 is CAV3 (Caveolin 3), and among its related pathways/superpathways are Transmission across Chemical Synapses and Cardiac conduction. Affiliated tissues include heart and heart-ventricle, and related phenotypes are prolonged qt interval and chest pain

UniProtKB/Swiss-Prot: 73 A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy.

Disease Ontology: 11 A long QT syndrome that has material basis in mutation of the CAV3 gene on chromosome 3p25.3.

Related Diseases for Long Qt Syndrome 9

Diseases in the Long Qt Syndrome family:

Long Qt Syndrome 1 Long Qt Syndrome 3
Long Qt Syndrome 9 Long Qt Syndrome 10
Long Qt Syndrome 11 Long Qt Syndrome 12
Long Qt Syndrome 13 Long Qt Syndrome 2
Long Qt Syndrome 6 Long Qt Syndrome 5
Long Qt Syndrome 14 Long Qt Syndrome 15
Long Qt Syndrome 8 Long Qt Syndrome 16
Familial Long Qt Syndrome

Diseases related to Long Qt Syndrome 9 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 79)
# Related Disease Score Top Affiliating Genes
1 hypokalemia 29.9 KCNQ1 KCNJ5 KCNH2
2 long qt syndrome 2 28.6 TRDN SNTA1 SCN5A SCN4B RYR2 KCNQ1
3 long qt syndrome 25.5 TRDN SNTA1 SCN5A SCN4B RYR2 OXTR
4 myopathy, distal, tateyama type 10.3 OXTR CAV3
5 progressive familial heart block, type ia 10.2 SCN5A ANK2
6 diamond-blackfan anemia 3 10.1 SCN5A KCNH2
7 generalized epilepsy with febrile seizures plus 10.1 SCN5A SCN4B ANK2
8 brugada syndrome 3 10.1 KCNE2 CACNA1C ANK2
9 trichothiodystrophy 7, nonphotosensitive 10.1 SCN5A KCNH2
10 familial sick sinus syndrome 10.1 SCN5A HCN4
11 deafness, autosomal recessive 98 10.1 KCNQ1 KCNE2 KCNE1
12 first-degree atrioventricular block 10.1 SCN5A KCNJ2 KCNH2
13 cardiomyopathy, familial hypertrophic, 4 10.1 ANK2 AKAP9
14 familial short qt syndrome 10.1 KCNQ1 KCNJ2 KCNH2
15 severe congenital neutropenia 5 10.0 SCN5A HCN4
16 developmental and epileptic encephalopathy 14 10.0 SCN5A KCNQ1 KCNH2
17 hyperkalemic periodic paralysis 10.0 SCN5A KCNJ5 KCNJ2
18 anhidrosis, isolated, with normal sweat glands 10.0 RYR2 CACNA1C
19 left bundle branch hemiblock 10.0 SCN5A RYR2
20 cardiomyopathy, dilated, 3b 10.0 SNTA1 CAV3
21 progressive familial heart block 10.0 SCN5A KCNQ1 HCN4
22 congestive heart failure 10.0 SCN5A KCNQ1 KCNJ2 KCNE2
23 second-degree atrioventricular block 9.9 SCN5A KCNH2 HCN4
24 familial long qt syndrome 9.9 SCN5A KCNQ1 KCNH2 KCNE1
25 epilepsy, idiopathic generalized 9.9 SCN5A SCN4B HCN4
26 cardiomyopathy, dilated, with woolly hair and keratoderma 9.9 SCN5A RYR2
27 arrhythmogenic right ventricular dysplasia, familial, 2 9.8 TRDN RYR2
28 cardiac conduction defect 9.8 SCN5A RYR2 KCNQ1 CACNA1C
29 syncope 9.8 SCN5A RYR2 KCNQ1 KCNH2
30 noonan syndrome with multiple lentigines 9.8 SCN5A RYR2 KCNQ1 KCNH2
31 brugada syndrome 4 9.8 SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C
32 wolff-parkinson-white syndrome 9.8 SCN5A KCNQ1 KCNH2 HCN4
33 ventricular tachycardia, catecholaminergic polymorphic, 2 9.8 TRDN RYR2
34 brugada syndrome 1 9.8 SCN5A RYR2 KCNH2 GPD1L
35 ventricular tachycardia, catecholaminergic polymorphic, 3 9.7 TRDN RYR2 KCNJ2 ANK2
36 familial periodic paralysis 9.7 SCN5A KCNJ5 KCNJ2 KCNJ12 CACNA1C
37 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.7 TRDN RYR2 CACNA1C ANK2
38 vitreoretinal degeneration, snowflake type 9.7 KCNJ5 KCNJ4 KCNJ12
39 tetralogy of fallot 9.6 SCN5A RYR2 KCNH2 HCN4
40 rasopathy 9.6 SCN5A RYR2 KCNQ1 KCNH2 CACNA1C
41 long qt syndrome 15 9.6 TRDN SNTA1 SCN4B KCNJ2 KCNH2 AKAP9
42 sick sinus syndrome 9.6 SCN5A RYR2 KCNE1 HCN4 CACNA1C
43 isolated elevated serum creatine phosphokinase levels 9.6 SCN5A OXTR KCNJ12 HCN4 CAV3 CACNA1C
44 malignant hyperthermia 9.6 TRDN SCN5A RYR2 CAV3 CACNA1C
45 arrhythmogenic right ventricular cardiomyopathy 9.5 SCN5A RYR2 KCNQ1 KCNH2 CACNA1C ANK2
46 cardiac arrest 9.5 TRDN SCN5A RYR2 KCNQ1 KCNH2
47 long qt syndrome 14 9.5 TRDN SNTA1 SCN5A SCN4B KCNQ1 KCNJ2
48 right bundle branch block 9.3 SCN5A RYR2 KCNH2 HCN4 GPD1L CACNA1C
49 long qt syndrome 10 9.3 SNTA1 SCN5A SCN4B KCNJ5 KCNJ2 KCNE2
50 sudden infant death syndrome 9.3 SNTA1 SCN5A SCN4B RYR2 KCNQ1 KCNH2

Graphical network of the top 20 diseases related to Long Qt Syndrome 9:



Diseases related to Long Qt Syndrome 9

Symptoms & Phenotypes for Long Qt Syndrome 9

Human phenotypes related to Long Qt Syndrome 9:

30 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 prolonged qt interval 30 Very rare (1%) HP:0001657
2 chest pain 30 Very rare (1%) HP:0100749
3 syncope 30 Very rare (1%) HP:0001279
4 cardiac arrest 30 Very rare (1%) HP:0001695
5 sinus bradycardia 30 Very rare (1%) HP:0001688
6 abnormal u wave 30 Very rare (1%) HP:0025070
7 ventricular arrhythmia 30 HP:0004308

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Cardiovascular Heart:
prolongation of corrected qt interval
nonexertional syncope (in some patients)
sinus bradycardia (in some patients)
cardiac arrest (in some patients)

Laboratory Abnormalities:
marked increase in late sodium current on voltage-clamp studies

Clinical features from OMIM®:

611818 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Long Qt Syndrome 9 according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.14 AKAP9 ANK2 CACNA1C CAV3 GPD1L HCN4
2 no effect GR00402-S-2 10.14 AKAP9 ANK2 CACNA1C CAV3 GPD1L HCN4

MGI Mouse Phenotypes related to Long Qt Syndrome 9:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 10.07 ANK2 CACNA1C CAV3 HCN4 KCNE1 KCNH2
2 growth/size/body region MP:0005378 9.97 AKAP9 ANK2 CACNA1C CAV3 KCNE1 KCNE2
3 cardiovascular system MP:0005385 9.73 ANK2 CACNA1C CAV3 HCN4 KCNE1 KCNH2
4 behavior/neurological MP:0005386 9.4 ANK2 CACNA1C GPD1L KCNE1 KCNJ2 KCNQ1

Drugs & Therapeutics for Long Qt Syndrome 9

Search Clinical Trials, NIH Clinical Center for Long Qt Syndrome 9

Cochrane evidence based reviews: long qt syndrome 9

Genetic Tests for Long Qt Syndrome 9

Genetic tests related to Long Qt Syndrome 9:

# Genetic test Affiliating Genes
1 Long Qt Syndrome 9 28 CAV3

Anatomical Context for Long Qt Syndrome 9

Organs/tissues related to Long Qt Syndrome 9:

MalaCards : Heart
ODiseA: Heart-Ventricle, Heart

Publications for Long Qt Syndrome 9

Articles related to Long Qt Syndrome 9:

(show all 16)
# Title Authors PMID Year
1
Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3. 57 5
17275750 2007
2
Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. 57 5
17060380 2006
3
Molecular and muscle pathology in a series of caveolinopathy patients. 5
15580566 2005
4
Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. 57
10220144 1999
5
Caveolin-3 and Arrhythmias: Insights into the Molecular Mechanisms. 62
35329921 2022
6
Long QT syndrome caveolin-3 mutations differentially modulate Kv 4 and Cav 1.2 channels to contribute to action potential prolongation. 62
30588629 2019
7
Caveolin-3 Microdomain: Arrhythmia Implications for Potassium Inward Rectifier and Cardiac Sodium Channel. 62
30473666 2018
8
Inward Rectifier Potassium Channels (Kir2.x) and Caveolin-3 Domain-Specific Interaction: Implications for Purkinje Cell-Dependent Ventricular Arrhythmias. 62
29326130 2018
9
Patient Outcomes From a Specialized Inherited Arrhythmia Clinic. 62
26743238 2016
10
Left thoracoscopic sympathectomy for cardiac denervation in patients with life-threatening ventricular arrhythmias. 62
24268954 2014
11
Activity intensity during free-living activities in children and adolescents with inherited arrhythmia syndromes: assessment by combined accelerometer and heart rate monitor. 62
23994883 2013
12
Caveolin-3 suppresses late sodium current by inhibiting nNOS-dependent S-nitrosylation of SCN5A. 62
23541953 2013
13
The interaction of caveolin 3 protein with the potassium inward rectifier channel Kir2.1: physiology and pathology related to long qt syndrome 9 (LQT9). 62
23640888 2013
14
Caveolae, ion channels and cardiac arrhythmias. 62
19351512 2008
15
Implantable cardioverter defibrillator therapy for life-threatening arrhythmias in young patients. 62
12154326 2002
16
Supraventricular arrhythmias in children and young adults with implantable cardioverter defibrillators. 62
11699514 2001

Variations for Long Qt Syndrome 9

ClinVar genetic disease variations for Long Qt Syndrome 9:

5 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CAV3, OXTR NM_033337.3(CAV3):c.423C>G (p.Ser141Arg) SNV Pathogenic
8291 rs104893713 GRCh37: 3:8787520-8787520
GRCh38: 3:8745834-8745834
2 CAV3, OXTR NM_033337.3(CAV3):c.253G>A (p.Ala85Thr) SNV Pathogenic
8294 rs104893715 GRCh37: 3:8787350-8787350
GRCh38: 3:8745664-8745664
3 CAV3 NM_033337.3(CAV3):c.40G>C (p.Val14Leu) SNV Pathogenic
8295 rs121909281 GRCh37: 3:8775602-8775602
GRCh38: 3:8733916-8733916
4 CAV3, OXTR NM_033337.3(CAV3):c.236T>G (p.Leu79Arg) SNV Pathogenic
8296 rs121909282 GRCh37: 3:8787333-8787333
GRCh38: 3:8745647-8745647
5 CAV3, OXTR NM_033337.3(CAV3):c.299T>A (p.Ile100Asn) SNV Likely Pathogenic
973213 rs1708139265 GRCh37: 3:8787396-8787396
GRCh38: 3:8745710-8745710
6 CAV3, OXTR NM_033337.3(CAV3):c.233C>T (p.Thr78Met) SNV Uncertain Significance
8293 rs72546668 GRCh37: 3:8787330-8787330
GRCh38: 3:8745644-8745644
7 CAV3, OXTR NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) SNV Uncertain Significance
8279 rs116840776 GRCh37: 3:8787313-8787313
GRCh38: 3:8745627-8745627
8 CAV3 NM_033337.3(CAV3):c.89A>G (p.Lys30Arg) SNV Uncertain Significance
637987 rs753431407 GRCh37: 3:8775651-8775651
GRCh38: 3:8733965-8733965
9 CAV3, OXTR NM_033337.3(CAV3):c.446AGG[1] (p.Glu150del) MICROSAT Uncertain Significance
869437 rs1027684031 GRCh37: 3:8787543-8787545
GRCh38: 3:8745857-8745859
10 CAV3 NM_033337.3(CAV3):c.22G>A (p.Asp8Asn) SNV Uncertain Significance
1299390 GRCh37: 3:8775584-8775584
GRCh38: 3:8733898-8733898
11 CAV3, OXTR NM_033337.3(CAV3):c.400G>A (p.Ala134Thr) SNV Uncertain Significance
288112 rs773309037 GRCh37: 3:8787497-8787497
GRCh38: 3:8745811-8745811

UniProtKB/Swiss-Prot genetic disease variations for Long Qt Syndrome 9:

73
# Symbol AA change Variation ID SNP ID
1 CAV3 p.Thr78Met VAR_043695 rs72546668
2 CAV3 p.Leu79Arg VAR_043696 rs121909282
3 CAV3 p.Ala85Thr VAR_043697 rs104893715
4 CAV3 p.Phe97Cys VAR_043698 rs104893714
5 CAV3 p.Ser141Arg VAR_043699 rs104893713

Expression for Long Qt Syndrome 9

Search GEO for disease gene expression data for Long Qt Syndrome 9.

Pathways for Long Qt Syndrome 9

Pathways related to Long Qt Syndrome 9 according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.9 HCN4 KCNH2 KCNJ12 KCNJ2 KCNJ4 KCNJ5
2
Show member pathways
12.53 AKAP9 CACNA1C CAV3 KCNE1 KCNE2 KCNH2
3
Show member pathways
12.41 SCN5A SCN4B KCNJ5 CACNA1C
4
Show member pathways
12.3 RYR2 OXTR KCNJ5 CACNA1C
5 12.21 KCNQ1 KCNJ5 KCNJ4 KCNJ2 KCNJ12 KCNH2
6
Show member pathways
12.07 KCNQ1 KCNJ5 KCNJ4 KCNJ2 KCNJ12 KCNH2
7 12.06 CAV3 GPD1L KCNH2 KCNQ1 RYR2 SCN4B
8
Show member pathways
12.03 KCNJ5 KCNJ4 KCNJ2 KCNJ12
9
Show member pathways
11.9 KCNJ5 KCNJ4 KCNJ2 KCNJ12
10 11.18 ANK2 CACNA1C HCN4 KCNE1 KCNE2 KCNH2
11 11.16 SCN5A SCN4B CACNA1C
12 11.1 SCN5A SCN4B ANK2
13 10.78 KCNQ1 KCNJ2 KCNE1 HCN4

GO Terms for Long Qt Syndrome 9

Cellular components related to Long Qt Syndrome 9 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 11 ANK2 CACNA1C CAV3 GPD1L HCN4 KCNE1
2 membrane GO:0016021 11 CACNA1C HCN4 KCNE1 KCNE2 KCNH2 KCNJ12
3 plasma membrane GO:0005886 10.69 ANK2 CACNA1C CAV3 GPD1L HCN4 KCNE1
4 plasma membrane GO:0005887 10.69 CACNA1C CAV3 KCNH2 KCNJ2 OXTR
5 Z disc GO:0030018 10.1 SCN5A RYR2 KCNE1 CAV3 CACNA1C ANK2
6 postsynaptic membrane GO:0045211 10.03 ANK2 CACNA1C KCNJ2 KCNJ4 SNTA1
7 intercalated disc GO:0014704 9.96 ANK2 CAV3 KCNJ2 SCN4B SCN5A
8 lateral plasma membrane GO:0016328 9.91 SNTA1 SCN5A KCNQ1
9 sarcolemma GO:0042383 9.9 SNTA1 SCN5A RYR2 CAV3 CACNA1C ANK2
10 junctional sarcoplasmic reticulum membrane GO:0014701 9.78 TRDN RYR2
11 potassium channel complex GO:0034705 9.67 KCNQ1 AKAP9
12 T-tubule GO:0030315 9.61 ANK2 CACNA1C CAV3 KCNJ2 SCN5A
13 voltage-gated potassium channel complex GO:0008076 9.53 KCNQ1 KCNJ5 KCNJ4 KCNJ2 KCNH2 KCNE2
14 obsolete intrinsic component of membrane GO:0031224 9.46 KCNJ2 KCNJ12

Biological processes related to Long Qt Syndrome 9 according to GeneCards Suite gene sharing:

(show top 50) (show all 60)
# Name GO ID Score Top Affiliating Genes
1 potassium ion transmembrane transport GO:0071805 10.38 KCNQ1 KCNJ5 KCNJ4 KCNJ2 KCNH2 KCNE2
2 regulation of heart rate by cardiac conduction GO:0086091 10.34 SCN5A SCN4B KCNQ1 KCNJ5 KCNJ2 KCNH2
3 muscle contraction GO:0006936 10.31 TRDN SNTA1 OXTR KCNJ12 HCN4
4 potassium ion import across plasma membrane GO:1990573 10.31 HCN4 KCNE2 KCNH2 KCNJ12 KCNJ2 KCNJ4
5 establishment of localization in cell GO:0051649 10.29 TRDN SCN4B RYR2 CAV3
6 cardiac muscle contraction GO:0060048 10.27 SCN5A SCN4B RYR2 KCNQ1 KCNH2
7 cellular response to cAMP GO:0071320 10.26 AKAP9 HCN4 KCNE1 KCNQ1
8 potassium ion transport GO:0006813 10.25 KCNQ1 KCNJ5 KCNJ4 KCNJ2 KCNJ12 KCNH2
9 cardiac muscle cell action potential involved in contraction GO:0086002 10.23 CACNA1C KCNE1 KCNE2 KCNJ2 SCN4B SCN5A
10 membrane depolarization during cardiac muscle cell action potential GO:0086012 10.22 CACNA1C HCN4 KCNJ2 SCN4B SCN5A
11 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 10.21 KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
12 cellular response to xenobiotic stimulus GO:0071466 10.2 KCNQ1 KCNH2 KCNE2
13 regulation of heart rate GO:0002027 10.2 ANK2 CAV3 GPD1L HCN4 KCNQ1 RYR2
14 regulation of cardiac muscle contraction GO:0055117 10.19 RYR2 HCN4 CAV3 ANK2
15 potassium ion export across plasma membrane GO:0097623 10.19 KCNE1 KCNE2 KCNH2 KCNQ1
16 regulation of membrane repolarization GO:0060306 10.19 KCNQ1 KCNJ2 KCNH2 KCNE2 AKAP9
17 positive regulation of potassium ion transmembrane transport GO:1901381 10.18 KCNE1 KCNH2 KCNJ2 KCNQ1
18 membrane repolarization during action potential GO:0086011 10.18 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
19 monoatomic ion transport GO:0006811 10.18 SCN5A SCN4B RYR2 KCNQ1 KCNJ5 KCNJ4
20 regulation of heart contraction GO:0008016 10.16 KCNQ1 KCNJ12 CAV3
21 transmembrane transport GO:0055085 10.16 CACNA1C HCN4 KCNH2 KCNQ1 RYR2 SCN5A
22 sodium ion transport GO:0006814 10.16 SCN5A SCN4B KCNQ1 HCN4
23 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 10.15 RYR2 CACNA1C ANK2
24 membrane repolarization during cardiac muscle cell action potential GO:0086013 10.15 KCNE1 KCNH2 KCNJ2 KCNQ1
25 regulation of potassium ion transmembrane transport GO:1901379 10.14 KCNH2 KCNE2 KCNE1
26 regulation of sodium ion transmembrane transporter activity GO:2000649 10.14 SCN4B GPD1L CAV3
27 positive regulation of sodium ion transport GO:0010765 10.14 SCN5A SCN4B GPD1L
28 regulation of cardiac muscle cell contraction GO:0086004 10.13 SCN5A KCNJ2 ANK2
29 atrial cardiac muscle cell action potential GO:0086014 10.12 SCN5A KCNQ1 ANK2
30 regulation of cardiac muscle cell action potential involved in regulation of contraction GO:0098909 10.11 HCN4 CAV3 AKAP9
31 monoatomic ion transmembrane transport GO:0034220 10.11 CACNA1C KCNH2 KCNJ4 KCNJ5 KCNQ1 SCN5A
32 regulation of SA node cell action potential GO:0098907 10.1 RYR2 HCN4 ANK2
33 membrane repolarization GO:0086009 10.1 KCNQ1 KCNH2 KCNE2 KCNE1
34 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 10.09 SCN5A GPD1L CAV3
35 SA node cell action potential GO:0086015 10.08 ANK2 HCN4 SCN5A
36 membrane depolarization during SA node cell action potential GO:0086046 10.08 ANK2 HCN4 SCN5A
37 regulation of monoatomic ion transmembrane transport GO:0034765 10.06 SCN5A SCN4B KCNQ1 KCNJ5 KCNJ4 KCNJ2
38 negative regulation of delayed rectifier potassium channel activity GO:1902260 10.04 KCNQ1 KCNE2 KCNE1
39 regulation of ventricular cardiac muscle cell action potential GO:0098911 10.03 RYR2 CACNA1C
40 cellular response to epinephrine stimulus GO:0071872 10.03 RYR2 KCNQ1
41 cardiac muscle hypertrophy GO:0003300 10.02 RYR2 CAV3
42 negative regulation of potassium ion transmembrane transport GO:1901380 10.02 KCNH2 CAV3
43 regulation of sodium ion transmembrane transport GO:1902305 10.02 SCN5A SNTA1
44 T-tubule organization GO:0033292 10.01 CAV3 ANK2
45 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 10.01 TRDN RYR2
46 regulation of cardiac muscle contraction by calcium ion signaling GO:0010882 10.01 RYR2 ANK2
47 regulation of delayed rectifier potassium channel activity GO:1902259 10.01 KCNE2 KCNE1
48 positive regulation of potassium ion transmembrane transporter activity GO:1901018 10.01 ANK2 AKAP9
49 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 10 SCN5A KCNQ1
50 membrane depolarization during AV node cell action potential GO:0086045 10 CACNA1C SCN5A

Molecular functions related to Long Qt Syndrome 9 according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 10.25 SNTA1 SCN5A RYR2 KCNQ1 CACNA1C
2 voltage-gated potassium channel activity GO:0005249 10.09 KCNQ1 KCNH2 KCNE2 KCNE1 HCN4
3 delayed rectifier potassium channel activity GO:0005251 10.08 KCNQ1 KCNH2 KCNE2 KCNE1
4 scaffold protein binding GO:0097110 10.06 SCN5A KCNQ1 KCNH2
5 sodium channel regulator activity GO:0017080 10.06 SNTA1 SCN4B GPD1L CAV3
6 potassium channel regulator activity GO:0015459 10.05 KCNE2 KCNE1 AKAP9
7 protein kinase A regulatory subunit binding GO:0034237 10.01 RYR2 KCNQ1 AKAP9
8 voltage-gated sodium channel activity GO:0005248 10 HCN4 SCN4B SCN5A
9 nitric-oxide synthase binding GO:0050998 9.97 SNTA1 SCN5A CAV3
10 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.96 KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
11 inward rectifier potassium channel activity GO:0005242 9.93 KCNE2 KCNH2 KCNJ12 KCNJ2 KCNJ4 KCNJ5
12 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.92 KCNQ1 KCNJ2 KCNH2 KCNE1
13 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.87 SCN5A SCN4B
14 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization GO:0086089 9.86 KCNQ1 KCNJ5
15 monoatomic ion channel activity GO:0005216 9.85 SCN5A RYR2 KCNQ1 KCNH2 HCN4 CACNA1C
16 potassium channel activity GO:0005267 9.8 HCN4 KCNE1 KCNE2 KCNH2 KCNQ1
17 voltage-gated monoatomic ion channel activity GO:0005244 9.8 CACNA1C HCN4 KCNE1 KCNE2 KCNH2 KCNJ12
18 sodium channel activity GO:0005272 9.69 SCN5A SCN4B HCN4
19 transmembrane transporter binding GO:0044325 9.68 AKAP9 ANK2 CAV3 GPD1L KCNE1 KCNE2

Sources for Long Qt Syndrome 9

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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