LQT9
MCID: LNG053
MIFTS: 40

Long Qt Syndrome 9 (LQT9)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Long Qt Syndrome 9

MalaCards integrated aliases for Long Qt Syndrome 9:

Name: Long Qt Syndrome 9 58 12 54 76 30 6 15 74
Lqt9 58 12 54 76
Long Qt Syndrome 2/9, Digenic, Included; Lqt2/9, Digenic, Included 58
Long Qt Syndrome 9, Acquired, Susceptibility to, Included 58
Long Qt Syndrome 2/9, Digenic, Included 58
Long Qt Syndrome 9, Acquired Included 58
Lqt2/9, Digenic, Included 58
Qt Syndrome, Long, Type 9 41
Long Qt Syndrome-9 13

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
sudden unexplained infant death (sids) reported in some patients


HPO:

33
long qt syndrome 9:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110650
OMIM 58 611818
MeSH 45 D008133
ICD10 34 I45.8
MedGen 43 C2678485
UMLS 74 C2678485

Summaries for Long Qt Syndrome 9

OMIM : 58 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)

MalaCards based summary : Long Qt Syndrome 9, also known as lqt9, is related to long qt syndrome 2 and long qt syndrome. An important gene associated with Long Qt Syndrome 9 is CAV3 (Caveolin 3), and among its related pathways/superpathways are Circadian entrainment and Transmission across Chemical Synapses. Affiliated tissues include heart, and related phenotypes are cardiac arrest and sinus bradycardia

Disease Ontology : 12 A long QT syndrome that has material basis in mutation of the CAV3 gene on chromosome 3p25.3.

UniProtKB/Swiss-Prot : 76 Long QT syndrome 9: 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.

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

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

(show all 27)
# Related Disease Score Top Affiliating Genes
1 long qt syndrome 2 31.5 CAV3 KCNJ2 SCN5A SNTA1 SSUH2
2 long qt syndrome 29.2 CAV3 HCN4 KCNJ2 SCN5A SNTA1
3 rippling muscle disease 2 10.3 CAV3 SSUH2
4 long qt syndrome 12 10.1 SCN5A SNTA1
5 familial sick sinus syndrome 10.1 HCN4 SCN5A
6 third-degree atrioventricular block 10.1 HCN4 SCN5A
7 atrioventricular block 10.1 HCN4 SCN5A
8 syncope 10.1 KCNJ2 SCN5A
9 sinoatrial node disease 10.1 HCN4 SCN5A
10 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 10.0 KCNJ2 SCN5A
11 jervell and lange-nielsen syndrome 1 10.0 CAV3 SCN5A
12 right bundle branch block 10.0 HCN4 SCN5A
13 long qt syndrome 5 10.0 KCNJ2 SCN5A
14 long qt syndrome 6 10.0 KCNJ2 SCN5A
15 muscular disease 10.0 CAV3 HCN4 SNTA1
16 cardiac arrhythmia 9.9 KCNJ2 SCN5A
17 heart conduction disease 9.9 HCN4 KCNJ2 SCN5A
18 sudden infant death syndrome 9.9 CAV3 SCN5A SNTA1
19 sick sinus syndrome 9.9 HCN4 SCN5A SNTA1
20 atrial fibrillation 9.9 HCN4 KCNJ2 SCN5A
21 left ventricular noncompaction 9.9 HCN4 SCN5A SNTA1
22 arrhythmogenic right ventricular cardiomyopathy 9.8 HCN4 SCN5A SLC8A1
23 intrinsic cardiomyopathy 9.8 KCNJ2 SCN5A
24 brugada syndrome 9.7 CAV3 HCN4 SCN5A SNTA1
25 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 9.6 KCNJ12 KCNJ4
26 long qt syndrome 1 9.5 CAV3 HCN4 KCNJ2 SCN5A SNTA1
27 andersen cardiodysrhythmic periodic paralysis 9.4 KCNJ12 KCNJ2 KCNJ4 SCN5A

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:

33
# Description HPO Frequency HPO Source Accession
1 cardiac arrest 33 occasional (7.5%) HP:0001695
2 sinus bradycardia 33 occasional (7.5%) HP:0001688
3 prolonged qt interval 33 HP:0001657
4 ventricular arrhythmia 33 HP:0004308

Symptoms via clinical synopsis from OMIM:

58
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

MGI Mouse Phenotypes related to Long Qt Syndrome 9:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.5 CAV3 HCN4 KCNJ12 KCNJ2 NOS1 SCN5A
2 muscle MP:0005369 9.17 CAV3 HCN4 KCNJ2 NOS1 SCN5A SLC8A1

Drugs & Therapeutics for Long Qt Syndrome 9

Search Clinical Trials , NIH Clinical Center for 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 30 CAV3

Anatomical Context for Long Qt Syndrome 9

MalaCards organs/tissues related to Long Qt Syndrome 9:

42
Heart

Publications for Long Qt Syndrome 9

Articles related to Long Qt Syndrome 9:

# Title Authors Year
1
The interaction of caveolin 3 protein with the potassium inward rectifier channel Kir2.1: physiology and pathology related to long qt syndrome 9 (LQT9). ( 23640888 )
2013

Variations for Long Qt Syndrome 9

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

76
# 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

ClinVar genetic disease variations for Long Qt Syndrome 9:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 CAV3 NM_033337.2(CAV3): c.216C> G (p.Cys72Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs116840776 GRCh37 Chromosome 3, 8787313: 8787313
2 CAV3 NM_033337.2(CAV3): c.216C> G (p.Cys72Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs116840776 GRCh38 Chromosome 3, 8745627: 8745627
3 CAV3 NM_033337.2(CAV3): c.423C> G (p.Ser141Arg) single nucleotide variant Pathogenic rs104893713 GRCh37 Chromosome 3, 8787520: 8787520
4 CAV3 NM_033337.2(CAV3): c.423C> G (p.Ser141Arg) single nucleotide variant Pathogenic rs104893713 GRCh38 Chromosome 3, 8745834: 8745834
5 CAV3 NM_033337.2(CAV3): c.233C> T (p.Thr78Met) single nucleotide variant Conflicting interpretations of pathogenicity rs72546668 GRCh37 Chromosome 3, 8787330: 8787330
6 CAV3 NM_033337.2(CAV3): c.233C> T (p.Thr78Met) single nucleotide variant Conflicting interpretations of pathogenicity rs72546668 GRCh38 Chromosome 3, 8745644: 8745644
7 CAV3 NM_033337.2(CAV3): c.253G> A (p.Ala85Thr) single nucleotide variant Pathogenic rs104893715 GRCh37 Chromosome 3, 8787350: 8787350
8 CAV3 NM_033337.2(CAV3): c.253G> A (p.Ala85Thr) single nucleotide variant Pathogenic rs104893715 GRCh38 Chromosome 3, 8745664: 8745664
9 CAV3 NM_033337.2(CAV3): c.40G> C (p.Val14Leu) single nucleotide variant Pathogenic rs121909281 GRCh37 Chromosome 3, 8775602: 8775602
10 CAV3 NM_033337.2(CAV3): c.40G> C (p.Val14Leu) single nucleotide variant Pathogenic rs121909281 GRCh38 Chromosome 3, 8733916: 8733916
11 CAV3 NM_033337.2(CAV3): c.236T> G (p.Leu79Arg) single nucleotide variant Pathogenic rs121909282 GRCh37 Chromosome 3, 8787333: 8787333
12 CAV3 NM_033337.2(CAV3): c.236T> G (p.Leu79Arg) single nucleotide variant Pathogenic rs121909282 GRCh38 Chromosome 3, 8745647: 8745647

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 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.68 KCNJ12 KCNJ2 KCNJ4 NOS1
2
Show member pathways
12.65 HCN4 KCNJ12 KCNJ2 KCNJ4
3
Show member pathways
12.32 KCNJ12 KCNJ2 KCNJ4 SLC8A1
4 11.91 KCNJ12 KCNJ2 KCNJ4 NOS1
5
Show member pathways
11.89 CAV3 KCNJ12 KCNJ2 KCNJ4 NOS1 SCN5A
6 11.87 CAV3 SCN5A SNTA1
7
Show member pathways
11.71 KCNJ12 KCNJ2 KCNJ4
8
Show member pathways
11.63 HCN4 KCNJ12 KCNJ2 KCNJ4
9
Show member pathways
11.56 KCNJ12 KCNJ2 KCNJ4
10 11 HCN4 KCNJ2 KCNJ4 SCN5A
11 10.74 NOS1 SNTA1
12 10.71 HCN4 KCNJ2

GO Terms for Long Qt Syndrome 9

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 dendritic spine GO:0043197 9.58 KCNJ2 NOS1 SLC8A1
2 Z disc GO:0030018 9.56 CAV3 NOS1 SCN5A SLC8A1
3 caveola GO:0005901 9.5 CAV3 NOS1 SCN5A
4 lateral plasma membrane GO:0016328 9.49 SCN5A SNTA1
5 dystrophin-associated glycoprotein complex GO:0016010 9.46 CAV3 SNTA1
6 intercalated disc GO:0014704 9.46 CAV3 KCNJ2 SCN5A SLC8A1
7 intrinsic component of membrane GO:0031224 9.43 KCNJ12 KCNJ2
8 sarcolemma GO:0042383 9.35 CAV3 NOS1 SCN5A SLC8A1 SNTA1
9 T-tubule GO:0030315 9.02 CAV3 KCNJ2 NOS1 SCN5A SLC8A1
10 membrane GO:0016020 10.13 CAV3 HCN4 KCNJ12 KCNJ2 KCNJ4 NOS1
11 plasma membrane GO:0005886 10.02 CAV3 HCN4 KCNJ12 KCNJ2 KCNJ4 NOS1

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

(show all 34)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.88 HCN4 KCNJ12 KCNJ2 KCNJ4 SCN5A SLC8A1
2 sodium ion transport GO:0006814 9.8 HCN4 SCN5A SLC8A1
3 potassium ion transmembrane transport GO:0071805 9.79 HCN4 KCNJ2 KCNJ4
4 potassium ion transport GO:0006813 9.78 HCN4 KCNJ12 KCNJ2 KCNJ4
5 sodium ion transmembrane transport GO:0035725 9.72 HCN4 SCN5A SLC8A1
6 regulation of ion transmembrane transport GO:0034765 9.72 HCN4 KCNJ12 KCNJ2 KCNJ4 SCN5A
7 regulation of heart rate by cardiac conduction GO:0086091 9.67 HCN4 KCNJ2 SCN5A
8 cellular response to cAMP GO:0071320 9.66 HCN4 SLC8A1
9 cardiac muscle contraction GO:0060048 9.66 SCN5A SLC8A1
10 regulation of cardiac conduction GO:1903779 9.65 NOS1 SLC8A1
11 regulation of heart contraction GO:0008016 9.65 CAV3 KCNJ12
12 regulation of calcium ion transport GO:0051924 9.65 CAV3 SLC8A1
13 telencephalon development GO:0021537 9.64 SCN5A SLC8A1
14 myoblast fusion GO:0007520 9.64 CAV3 NOS1
15 regulation of sodium ion transport GO:0002028 9.63 NOS1 SLC8A1
16 cardiac muscle cell action potential involved in contraction GO:0086002 9.63 KCNJ2 SCN5A
17 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.63 CAV3 SCN5A SNTA1
18 sodium ion import across plasma membrane GO:0098719 9.61 HCN4 SLC8A1
19 negative regulation of calcium ion transport GO:0051926 9.61 CAV3 NOS1
20 regulation of cardiac muscle contraction GO:0055117 9.61 CAV3 HCN4 NOS1
21 regulation of cardiac muscle cell contraction GO:0086004 9.6 KCNJ2 SCN5A
22 relaxation of cardiac muscle GO:0055119 9.59 KCNJ2 SLC8A1
23 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.58 CAV3 SCN5A
24 cardiac muscle cell development GO:0055013 9.58 CAV3 SLC8A1
25 regulation of cardiac muscle cell action potential involved in regulation of contraction GO:0098909 9.57 CAV3 HCN4
26 regulation of sodium ion transmembrane transport GO:1902305 9.56 SCN5A SNTA1
27 potassium ion import across plasma membrane GO:1990573 9.56 HCN4 KCNJ12 KCNJ2 KCNJ4
28 muscle contraction GO:0006936 9.55 CAV3 HCN4 KCNJ12 SLC8A1 SNTA1
29 SA node cell action potential GO:0086015 9.54 HCN4 SCN5A
30 ventricular cardiac muscle cell action potential GO:0086005 9.54 CAV3 SCN5A SNTA1
31 membrane depolarization during SA node cell action potential GO:0086046 9.52 HCN4 SCN5A
32 positive regulation of the force of heart contraction GO:0098735 9.51 NOS1 SLC8A1
33 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.26 HCN4 KCNJ2 SCN5A SLC8A1
34 regulation of heart rate GO:0002027 9.02 CAV3 HCN4 SCN5A SLC8A1 SNTA1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.71 NOS1 SCN5A SLC8A1 SNTA1
2 sodium channel regulator activity GO:0017080 9.54 CAV3 NOS1 SNTA1
3 inward rectifier potassium channel activity GO:0005242 9.5 KCNJ12 KCNJ2 KCNJ4
4 scaffold protein binding GO:0097110 9.49 NOS1 SCN5A
5 sodium channel activity GO:0005272 9.48 HCN4 SCN5A
6 ankyrin binding GO:0030506 9.46 SCN5A SLC8A1
7 voltage-gated sodium channel activity GO:0005248 9.43 HCN4 SCN5A
8 nitric-oxide synthase binding GO:0050998 9.43 CAV3 SCN5A SNTA1
9 ion channel binding GO:0044325 9.35 CAV3 NOS1 SCN5A SLC8A1 SNTA1
10 G-protein activated inward rectifier potassium channel activity GO:0015467 9.33 KCNJ12 KCNJ2 KCNJ4
11 voltage-gated ion channel activity GO:0005244 9.02 HCN4 KCNJ12 KCNJ2 KCNJ4 SCN5A

Sources for Long Qt Syndrome 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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