MCID: LNG053
MIFTS: 40

Long Qt Syndrome 9

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Long Qt Syndrome 9

MalaCards integrated aliases for Long Qt Syndrome 9:

Name: Long Qt Syndrome 9 53 12 49 71 28 14 69
Lqt9 53 12 49 71
Long Qt Syndrome 2/9, Digenic, Included; Lqt2/9, Digenic, Included 53
Long Qt Syndrome 9, Acquired, Susceptibility to, Included 53
Long Qt Syndrome 2/9, Digenic, Included 53
Long Qt Syndrome 9, Acquired Included 53
Lqt2/9, Digenic, Included 53
Long Qt Syndrome-9 13

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

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


HPO:

31
long qt syndrome 9:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 611818
Disease Ontology 12 DOID:0110650
ICD10 32 I45.8
MedGen 39 C2678485
MeSH 41 D008133
UMLS 69 C2678485

Summaries for Long Qt Syndrome 9

OMIM : 53 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, and has symptoms including prolonged qt interval, sinus bradycardia and cardiac arrest. 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 Vascular smooth muscle contraction. Affiliated tissues include heart, and related phenotypes are cardiovascular system and muscle

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

UniProtKB/Swiss-Prot : 71 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
Familial Long Qt Syndrome

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

(show all 25)
# Related Disease Score Top Affiliating Genes
1 long qt syndrome 2 31.7 KCNJ2 SCN5A
2 long qt syndrome 28.5 CAV3 HCN4 KCNJ2 SCN5A SNTA1
3 long qt syndrome 12 10.1 SCN5A SNTA1
4 familial long qt syndrome 10.1 KCNJ2 SCN5A
5 familial sick sinus syndrome 10.0 HCN4 SCN5A
6 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 10.0 KCNJ2 SCN5A
7 jervell and lange-nielsen syndrome 1 10.0 CAV3 SCN5A
8 third-degree atrioventricular block 10.0 HCN4 SCN5A
9 long qt syndrome 6 10.0 KCNJ2 SCN5A
10 sinoatrial node disease 10.0 HCN4 SCN5A
11 long qt syndrome 5 10.0 KCNJ2 SCN5A
12 right bundle branch block 10.0 HCN4 SCN5A
13 short qt syndrome 9.9 KCNJ2 SCN5A
14 sick sinus syndrome 9.9 HCN4 SCN5A
15 syncope 9.9 CAV3 KCNJ2 SCN5A
16 atrioventricular block 9.8 HCN4 SCN5A
17 intrinsic cardiomyopathy 9.8 KCNJ2 SCN5A
18 sudden infant death syndrome 9.8 CAV3 SCN5A SNTA1
19 heart conduction disease 9.8 HCN4 KCNJ2 SCN5A
20 brugada syndrome 9.8 CAV3 HCN4 SCN5A
21 atrial fibrillation 9.7 HCN4 KCNJ2 SCN5A
22 left ventricular noncompaction 9.7 HCN4 SCN5A SNTA1
23 andersen cardiodysrhythmic periodic paralysis 9.7 KCNJ12 KCNJ2 SCN5A
24 catecholaminergic polymorphic ventricular tachycardia 9.6 KCNJ2 SCN5A
25 long qt syndrome 1 8.8 CAV3 HCN4 KCNJ2 SCN5A SLC8A1 SNTA1

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

Symptoms via clinical synopsis from OMIM:

53
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

Human phenotypes related to Long Qt Syndrome 9:

31
# Description HPO Frequency HPO Source Accession
1 prolonged qt interval 31 HP:0001657
2 sinus bradycardia 31 occasional (7.5%) HP:0001688
3 cardiac arrest 31 occasional (7.5%) HP:0001695
4 ventricular arrhythmia 31 HP:0004308

MGI Mouse Phenotypes related to Long Qt Syndrome 9:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.43 CAV3 HCN4 KCNJ12 KCNJ2 SCN5A SLC8A1
2 muscle MP:0005369 9.1 HCN4 KCNJ2 SCN5A SLC8A1 SNTA1 CAV3

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 28 CAV3

Anatomical Context for Long Qt Syndrome 9

MalaCards organs/tissues related to Long Qt Syndrome 9:

38
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:

71
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 CAV3 NM_033337.2(CAV3): c.423C> G (p.Ser141Arg) single nucleotide variant Pathogenic rs104893713 GRCh37 Chromosome 3, 8787520: 8787520
2 CAV3 NM_033337.2(CAV3): c.253G> A (p.Ala85Thr) single nucleotide variant Pathogenic rs104893715 GRCh37 Chromosome 3, 8787350: 8787350
3 CAV3 NM_033337.2(CAV3): c.40G> C (p.Val14Leu) single nucleotide variant Pathogenic rs121909281 GRCh37 Chromosome 3, 8775602: 8775602
4 CAV3 NM_033337.2(CAV3): c.236T> G (p.Leu79Arg) single nucleotide variant Pathogenic rs121909282 GRCh37 Chromosome 3, 8787333: 8787333

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.63 HCN4 KCNJ12 KCNJ2 KCNJ4
2
Show member pathways
12.26 KCNJ12 KCNJ2 KCNJ4 SLC8A1
3
Show member pathways
12.16 CAV3 KCNJ12 KCNJ2 KCNJ4 SCN5A SLC8A1
4 11.99 KCNJ12 KCNJ2 KCNJ4
5 11.79 CAV3 SCN5A SNTA1
6
Show member pathways
11.68 KCNJ12 KCNJ2 KCNJ4
7
Show member pathways
11.63 HCN4 KCNJ12 KCNJ2 KCNJ4
8
Show member pathways
11.49 KCNJ12 KCNJ2 KCNJ4
9 10.71 HCN4 KCNJ2
10 10.67 HCN4 KCNJ2 KCNJ4 SCN5A

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 plasma membrane GO:0005886 9.86 CAV3 HCN4 KCNJ12 KCNJ2 KCNJ4 SCN5A
2 Z disc GO:0030018 9.5 CAV3 SCN5A SLC8A1
3 caveola GO:0005901 9.48 CAV3 SCN5A
4 lateral plasma membrane GO:0016328 9.46 SCN5A SNTA1
5 sarcolemma GO:0042383 9.46 CAV3 SCN5A SLC8A1 SNTA1
6 neuromuscular junction GO:0031594 9.43 CAV3 SNTA1
7 intrinsic component of membrane GO:0031224 9.37 KCNJ12 KCNJ2
8 intercalated disc GO:0014704 9.26 CAV3 KCNJ2 SCN5A SLC8A1
9 T-tubule GO:0030315 8.92 CAV3 KCNJ2 SCN5A SLC8A1
10 integral component of membrane GO:0016021 10.04 CAV3 HCN4 KCNJ12 KCNJ2 KCNJ4 SCN5A
11 membrane GO:0016020 10.01 CAV3 HCN4 KCNJ12 KCNJ2 KCNJ4 SCN5A

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

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.85 HCN4 KCNJ12 KCNJ2 KCNJ4 SCN5A SLC8A1
2 potassium ion transmembrane transport GO:0071805 9.79 HCN4 KCNJ2 KCNJ4
3 sodium ion transport GO:0006814 9.79 HCN4 SCN5A SLC8A1
4 potassium ion transport GO:0006813 9.78 HCN4 KCNJ12 KCNJ2 KCNJ4
5 sodium ion transmembrane transport GO:0035725 9.73 HCN4 SCN5A SLC8A1
6 regulation of ion transmembrane transport GO:0034765 9.72 HCN4 KCNJ12 KCNJ2 KCNJ4 SCN5A
7 regulation of postsynaptic membrane potential GO:0060078 9.69 HCN4 SCN5A SLC8A1
8 regulation of heart rate by cardiac conduction GO:0086091 9.67 HCN4 KCNJ2 SCN5A
9 regulation of membrane potential GO:0042391 9.66 CAV3 HCN4
10 protein homotetramerization GO:0051289 9.65 KCNJ12 KCNJ2
11 cellular response to cAMP GO:0071320 9.65 HCN4 SLC8A1
12 cardiac muscle contraction GO:0060048 9.65 SCN5A SLC8A1
13 regulation of heart contraction GO:0008016 9.64 CAV3 KCNJ12
14 regulation of calcium ion transport GO:0051924 9.64 CAV3 SLC8A1
15 telencephalon development GO:0021537 9.63 SCN5A SLC8A1
16 regulation of cardiac muscle contraction GO:0055117 9.63 CAV3 HCN4
17 potassium ion import GO:0010107 9.63 KCNJ12 KCNJ2 KCNJ4
18 cardiac muscle cell action potential involved in contraction GO:0086002 9.62 KCNJ2 SCN5A
19 regulation of cardiac muscle cell contraction GO:0086004 9.61 KCNJ2 SCN5A
20 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.61 CAV3 SCN5A SNTA1
21 relaxation of cardiac muscle GO:0055119 9.6 KCNJ2 SLC8A1
22 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.58 CAV3 SCN5A
23 regulation of sodium ion transmembrane transport GO:1902305 9.58 SCN5A SNTA1
24 ventricular cardiac muscle cell action potential GO:0086005 9.58 CAV3 SCN5A SNTA1
25 regulation of cardiac muscle cell action potential involved in regulation of contraction GO:0098909 9.57 CAV3 HCN4
26 cardiac conduction GO:0061337 9.56 KCNJ12 KCNJ2 KCNJ4 SCN5A
27 cardiac muscle cell development GO:0055013 9.55 CAV3 SLC8A1
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 membrane depolarization during SA node cell action potential GO:0086046 9.52 HCN4 SCN5A
31 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.26 HCN4 KCNJ2 SCN5A SLC8A1
32 regulation of heart rate GO:0002027 9.02 CAV3 HCN4 SCN5A SLC8A1 SNTA1
33 transport GO:0006810 10.07 HCN4 KCNJ12 KCNJ2 KCNJ4 SCN5A SLC8A1

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

# Name GO ID Score Top Affiliating Genes
1 ion channel binding GO:0044325 9.62 CAV3 SCN5A SLC8A1 SNTA1
2 calmodulin binding GO:0005516 9.61 SCN5A SLC8A1 SNTA1
3 sodium channel regulator activity GO:0017080 9.48 CAV3 SNTA1
4 sodium channel activity GO:0005272 9.46 HCN4 SCN5A
5 inward rectifier potassium channel activity GO:0005242 9.43 KCNJ12 KCNJ2 KCNJ4
6 voltage-gated sodium channel activity GO:0005248 9.4 HCN4 SCN5A
7 ankyrin binding GO:0030506 9.37 SCN5A SLC8A1
8 nitric-oxide synthase binding GO:0050998 9.33 CAV3 SCN5A SNTA1
9 G-protein activated inward rectifier potassium channel activity GO:0015467 9.13 KCNJ12 KCNJ2 KCNJ4
10 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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