MCID: LNG053
MIFTS: 39

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 57 12 53 75 29 6 15 73
Lqt9 57 12 53 75
Long Qt Syndrome 2/9, Digenic, Included; Lqt2/9, Digenic, Included 57
Long Qt Syndrome 9, Acquired, Susceptibility to, Included 57
Long Qt Syndrome 2/9, Digenic, Included 57
Long Qt Syndrome 9, Acquired Included 57
Lqt2/9, Digenic, Included 57
Qt Syndrome, Long, Type 9 40
Long Qt Syndrome-9 13

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
long qt syndrome 9:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 611818
Disease Ontology 12 DOID:0110650
ICD10 33 I45.8
MedGen 42 C2678485
MeSH 44 D008133
UMLS 73 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)

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 Transmission across Chemical Synapses and Vascular smooth muscle contraction. Affiliated tissues include heart, and related phenotypes are prolonged qt interval and sinus bradycardia

UniProtKB/Swiss-Prot : 75 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.

Disease Ontology : 12 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

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 30.2 CAV3 KCNJ2 SCN5A SNTA1 SSUH2
2 long qt syndrome 27.9 CAV3 HCN4 KCNJ2 SCN5A SNTA1
3 creatine phosphokinase, elevated serum 10.5 CAV3 SSUH2
4 rippling muscle disease 2 10.5 CAV3 SSUH2
5 long qt syndrome 12 10.1 SCN5A SNTA1
6 familial sick sinus syndrome 10.0 HCN4 SCN5A
7 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 10.0 KCNJ2 SCN5A
8 syncope 10.0 KCNJ2 SCN5A
9 sinoatrial node disease 10.0 HCN4 SCN5A
10 long qt syndrome 5 10.0 KCNJ2 SCN5A
11 jervell and lange-nielsen syndrome 1 10.0 CAV3 SCN5A
12 long qt syndrome 6 9.9 KCNJ2 SCN5A
13 right bundle branch block 9.9 HCN4 SCN5A
14 cardiac arrhythmia 9.8 KCNJ2 SCN5A
15 intrinsic cardiomyopathy 9.8 KCNJ2 SCN5A
16 sudden infant death syndrome 9.6 CAV3 SCN5A SNTA1
17 heart conduction disease 9.6 HCN4 KCNJ2 SCN5A
18 sick sinus syndrome 9.6 HCN4 SCN5A SNTA1
19 left ventricular noncompaction 9.6 HCN4 SCN5A SNTA1
20 atrial fibrillation 9.5 HCN4 KCNJ2 SCN5A
21 andersen cardiodysrhythmic periodic paralysis 9.5 KCNJ12 KCNJ2 SCN5A
22 atrioventricular block 9.5 HCN4 SCN5A
23 catecholaminergic polymorphic ventricular tachycardia 9.4 KCNJ2 SCN5A
24 long qt syndrome 1 9.3 CAV3 KCNJ2 SCN5A SNTA1
25 brugada syndrome 9.2 CAV3 HCN4 SCN5A 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:

57
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:

32
# Description HPO Frequency HPO Source Accession
1 prolonged qt interval 32 HP:0001657
2 sinus bradycardia 32 occasional (7.5%) HP:0001688
3 cardiac arrest 32 occasional (7.5%) HP:0001695
4 ventricular arrhythmia 32 HP:0004308

MGI Mouse Phenotypes related to Long Qt Syndrome 9:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.43 KCNJ12 KCNJ2 SCN5A SLC8A1 CAV3 HCN4
2 muscle MP:0005369 9.1 CAV3 HCN4 KCNJ2 SCN5A SLC8A1 SNTA1

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 29 CAV3

Anatomical Context for Long Qt Syndrome 9

MalaCards organs/tissues related to Long Qt Syndrome 9:

41
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:

75
# 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.423C> G (p.Ser141Arg) single nucleotide variant Pathogenic rs104893713 GRCh38 Chromosome 3, 8745834: 8745834
3 CAV3 NM_033337.2(CAV3): c.253G> A (p.Ala85Thr) single nucleotide variant Pathogenic rs104893715 GRCh37 Chromosome 3, 8787350: 8787350
4 CAV3 NM_033337.2(CAV3): c.253G> A (p.Ala85Thr) single nucleotide variant Pathogenic rs104893715 GRCh38 Chromosome 3, 8745664: 8745664
5 CAV3 NM_033337.2(CAV3): c.40G> C (p.Val14Leu) single nucleotide variant Pathogenic rs121909281 GRCh37 Chromosome 3, 8775602: 8775602
6 CAV3 NM_033337.2(CAV3): c.40G> C (p.Val14Leu) single nucleotide variant Pathogenic rs121909281 GRCh38 Chromosome 3, 8733916: 8733916
7 CAV3 NM_033337.2(CAV3): c.236T> G (p.Leu79Arg) single nucleotide variant Pathogenic rs121909282 GRCh37 Chromosome 3, 8787333: 8787333
8 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:

# 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 11.82 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 10.68 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:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.92 CAV3 HCN4 KCNJ12 KCNJ2 KCNJ4 SCN5A
2 integral component of plasma membrane GO:0005887 9.8 CAV3 HCN4 KCNJ12 KCNJ2 SLC8A1
3 caveola GO:0005901 9.48 CAV3 SCN5A
4 neuromuscular junction GO:0031594 9.46 CAV3 SNTA1
5 sarcolemma GO:0042383 9.46 CAV3 SCN5A SLC8A1 SNTA1
6 lateral plasma membrane GO:0016328 9.43 SCN5A SNTA1
7 Z disc GO:0030018 9.43 CAV3 SCN5A SLC8A1
8 intrinsic component of membrane GO:0031224 9.37 KCNJ12 KCNJ2
9 intercalated disc GO:0014704 9.26 CAV3 KCNJ2 SCN5A SLC8A1
10 T-tubule GO:0030315 8.92 CAV3 KCNJ2 SCN5A SLC8A1

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

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.88 HCN4 KCNJ12 KCNJ2 KCNJ4 SCN5A SLC8A1
2 potassium ion transmembrane transport GO:0071805 9.79 HCN4 KCNJ2 KCNJ4
3 sodium ion transport GO:0006814 9.77 HCN4 SCN5A SLC8A1
4 potassium ion transport GO:0006813 9.76 HCN4 KCNJ12 KCNJ2 KCNJ4
5 sodium ion transmembrane transport GO:0035725 9.71 HCN4 SCN5A SLC8A1
6 potassium ion import GO:0010107 9.67 KCNJ12 KCNJ2 KCNJ4
7 protein homotetramerization GO:0051289 9.65 KCNJ12 KCNJ2
8 cellular response to cAMP GO:0071320 9.65 HCN4 SLC8A1
9 regulation of heart rate by cardiac conduction GO:0086091 9.65 HCN4 KCNJ2 SCN5A
10 regulation of ion transmembrane transport GO:0034765 9.65 HCN4 KCNJ12 KCNJ2 KCNJ4 SCN5A
11 cardiac muscle contraction GO:0060048 9.64 SCN5A SLC8A1
12 regulation of heart contraction GO:0008016 9.64 CAV3 KCNJ12
13 telencephalon development GO:0021537 9.63 SCN5A SLC8A1
14 regulation of calcium ion transport GO:0051924 9.63 CAV3 SLC8A1
15 regulation of cardiac muscle contraction GO:0055117 9.62 CAV3 HCN4
16 cardiac conduction GO:0061337 9.62 KCNJ12 KCNJ2 KCNJ4 SCN5A
17 cardiac muscle cell action potential involved in contraction GO:0086002 9.61 KCNJ2 SCN5A
18 sodium ion import across plasma membrane GO:0098719 9.61 HCN4 SLC8A1
19 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.61 CAV3 SCN5A SNTA1
20 regulation of cardiac muscle cell contraction GO:0086004 9.59 KCNJ2 SCN5A
21 relaxation of cardiac muscle GO:0055119 9.58 KCNJ2 SLC8A1
22 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.58 CAV3 SCN5A
23 regulation of cardiac muscle cell action potential involved in regulation of contraction GO:0098909 9.57 CAV3 HCN4
24 regulation of sodium ion transmembrane transport GO:1902305 9.56 SCN5A SNTA1
25 cardiac muscle cell development GO:0055013 9.55 CAV3 SLC8A1
26 muscle contraction GO:0006936 9.55 CAV3 HCN4 KCNJ12 SLC8A1 SNTA1
27 ventricular cardiac muscle cell action potential GO:0086005 9.54 CAV3 SCN5A SNTA1
28 SA node cell action potential GO:0086015 9.52 HCN4 SCN5A
29 membrane depolarization during SA node cell action potential GO:0086046 9.51 HCN4 SCN5A
30 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.26 HCN4 KCNJ2 SCN5A SLC8A1
31 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:

# 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
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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