MCID: LNG053
MIFTS: 44

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 54 12 50 24 71 29 14 69
Lqt9 12 50 24 71
Long Qt Syndrome-9 13
Lqt 9 24

Characteristics:

OMIM:

54
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 54 611818
Disease Ontology 12 DOID:0110650
ICD10 33 I45.8
MedGen 40 C2678485
MeSH 42 D008133

Summaries for Long Qt Syndrome 9

OMIM : 54
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 intellectual disability-cataracts-kyphosis syndrome and atrial fibrillation, familial, 3, and has symptoms including ventricular arrhythmia and prolonged qt interval. An important gene associated with Long Qt Syndrome 9 is CAV3 (Caveolin 3), and among its related pathways/superpathways are Vascular smooth muscle contraction and Cardiac conduction. The drugs chloroquine and Diltiazem have been mentioned in the context of this disorder. 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 15 Long Qt Syndrome 9
Long Qt Syndrome-3 Long Qt Syndrome-11
Long Qt Syndrome 2 Long Qt Syndrome 1
Long Qt Syndrome-10 Long Qt Syndrome 13
Long Qt Syndrome 14 Long Qt Syndrome 12
Long Qt Syndrome 6 Long Qt Syndrome 5
Familial Long Qt Syndrome

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

(show all 32)
id Related Disease Score Top Affiliating Genes
1 intellectual disability-cataracts-kyphosis syndrome 10.2 KCNJ2 SCN5A
2 atrial fibrillation, familial, 3 10.2 CAV3 SCN5A
3 keppen-lubinsky syndrome 10.2 KCNJ2 SCN5A
4 zttk syndrome 10.2 KCNJ2 SCN5A
5 mental retardation, autosomal dominant 11 10.2 SCN5A SNTA1
6 short qt syndrome 1 10.1 KCNJ2 SCN5A
7 cone dystrophy 10.1 KCNJ2 SCN5A
8 ventricular tachycardia, catecholaminergic polymorphic, 1 10.1 KCNJ2 SCN5A
9 benign partial epilepsy of infancy with complex partial seizures 10.1 HCN4 SCN5A
10 microvillus inclusion disease 10.1 KCNJ2 SCN5A
11 endocardium disease 10.1 HCN4 SCN5A
12 syne1-related emery-dreifuss muscular dystrophy 10.1 KCNJ2 SCN5A
13 tricuspid valve disease 10.0 HCN4 SCN5A
14 uterine fibroid 10.0 HCN4 SCN5A
15 squamous cell papilloma 10.0 HCN4 SCN5A
16 autoimmune disease of skin and connective tissue 10.0 KCNJ2 SCN5A
17 pigment dispersion syndrome 9.9 KCNJ2 SCN5A
18 second-degree atrioventricular block 9.9 HCN4 SCN5A
19 vascular erectile tumor 9.8 CAV3 KCNJ2 SCN5A
20 long qt syndrome 9.7
21 atrial fibrillation, familial, 10 9.7 CAV3 SCN5A SNTA1
22 hyperphosphatemia 9.7 CAV3 HCN4 SCN5A
23 prostate malignant phyllodes tumor 9.6 HCN4 KCNJ2 SCN5A
24 acrofrontofacionasal dysostosis 9.6 HCN4 KCNJ2 SCN5A
25 vitelliform macular dystrophy 9.6 KCNJ2 SCN5A
26 chicken egg allergy 9.6 HCN4 SCN5A SNTA1
27 usher syndrome 9.5 SCN5A SLC8A1
28 casr-related disorders 9.2 CAV3 SCN5A SLC8A1
29 xanthogranulomatous pyelonephritis 8.9 KCNJ2 SCN5A SLC8A1
30 hairy cell leukemia 8.7 CAV3 HCN4 KCNJ2 SCN5A SNTA1
31 lipodystrophy, familial partial, type 5 7.9 CAV3 HCN4 KCNJ2 SCN5A SLC8A1 SNTA1
32 jervell and lange-nielsen syndrome 7.9 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:

54

Cardiovascular- Heart:
cardiac arrest (in some patients)
prolongation of corrected qt interval
nonexertional syncope (in some patients)
sinus bradycardia (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
id Description HPO Frequency HPO Source Accession
1 ventricular arrhythmia 32 HP:0004308
2 prolonged qt interval 32 HP:0001657

MGI Mouse Phenotypes related to Long Qt Syndrome 9:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.35 SCN5A SLC8A1 CAV3 HCN4 KCNJ2
2 muscle MP:0005369 9.1 CAV3 HCN4 KCNJ2 SCN5A SLC8A1 SNTA1

Drugs & Therapeutics for Long Qt Syndrome 9

Drugs for Long Qt Syndrome 9 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 59)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
chloroquine Approved, Vet_approved Phase 1 54-05-7 2719
2
Diltiazem Approved Phase 1 42399-41-7 39186
3
Dofetilide Approved Phase 1 115256-11-6 71329
4
Lopinavir Approved Phase 1 192725-17-0 92727
5
Ranolazine Approved, Investigational Phase 1 142387-99-3, 95635-55-5 56959
6
Ritonavir Approved, Investigational Phase 1 155213-67-5 392622
7
Verapamil Approved Phase 1 52-53-9 2520
8
Estradiol Approved, Investigational, Vet_approved Phase 1 50-28-2 5757
9
Ethinyl Estradiol Approved Phase 1 57-63-6 5991
10
Lidocaine Approved, Vet_approved Phase 1 137-58-6 3676
11
Mexiletine Approved Phase 1 31828-71-4 4178
12
Moxifloxacin Approved, Investigational Phase 1 354812-41-2, 151096-09-2 152946
13
Norgestimate Approved Phase 1 35189-28-7 6540478
14
Tramadol Approved, Investigational Phase 1 27203-92-5 33741
15 Analgesics Phase 1
16 Analgesics, Non-Narcotic Phase 1
17 Anthelmintics Phase 1
18 Anti-Arrhythmia Agents Phase 1
19 Anti-HIV Agents Phase 1
20 Antihypertensive Agents Phase 1
21 Anti-Infective Agents Phase 1
22 Anti-Inflammatory Agents Phase 1
23 Anti-Inflammatory Agents, Non-Steroidal Phase 1
24 Antimalarials Phase 1
25 Antiparasitic Agents Phase 1
26 Antiprotozoal Agents Phase 1
27 Anti-Retroviral Agents Phase 1
28 Antirheumatic Agents Phase 1
29 Antiviral Agents Phase 1
30 calcium channel blockers Phase 1
31 Calcium, Dietary Phase 1
32 Chloroquine diphosphate Phase 1 50-63-5
33 Cytochrome P-450 CYP3A Inhibitors Phase 1
34 Cytochrome P-450 Enzyme Inhibitors Phase 1
35 Diuretics, Potassium Sparing Phase 1
36 HIV Protease Inhibitors Phase 1
37 Peripheral Nervous System Agents Phase 1
38 Potassium Channel Blockers Phase 1
39
protease inhibitors Phase 1
40 Sodium Channel Blockers Phase 1
41 Vasodilator Agents Phase 1
42 Anesthetics Phase 1
43 Anesthetics, Local Phase 1
44 Anti-Bacterial Agents Phase 1
45 Central Nervous System Depressants Phase 1
46 Contraceptive Agents Phase 1
47 Contraceptives, Oral Phase 1
48 Contraceptives, Oral, Combined Phase 1
49 Estradiol 17 beta-cypionate Phase 1
50 Estradiol 3-benzoate Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 CiPA Phase 1 ECG Biomarker Validation Study Completed NCT03070470 Phase 1 Ranolazine;Verapamil;Lopinavir / Ritonavir;Chloroquine;Placebo;Dofetilide and Diltiazem
2 Ability of Late Sodium or Calcium Current Block to Balance the ECG Effects of Potassium Current Block Completed NCT02308748 Phase 1 Dofetilide;Mexiletine;Lidocaine;Moxifloxacin;Diltiazem;Placebo
3 A Dose Ranging Escalation Study of Tramadol Hydrochloride in Healthy Volunteers Completed NCT01947920 Phase 1 Tramadol HCl, 50 mg;Placebo
4 The Canadian National Long QT Syndrome Registry Recruiting NCT02425189

Search NIH Clinical Center for Long Qt Syndrome 9

Genetic Tests for Long Qt Syndrome 9

Genetic tests related to Long Qt Syndrome 9:

id Genetic test Affiliating Genes
1 Long Qt Syndrome 9 29 24 CAV3

Anatomical Context for Long Qt Syndrome 9

MalaCards organs/tissues related to Long Qt Syndrome 9:

39
Heart

Publications for Long Qt Syndrome 9

Articles related to Long Qt Syndrome 9:

id 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
id 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
id 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.

GO Terms for Long Qt Syndrome 9

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

id Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.8 CAV3 HCN4 KCNJ2 SCN5A SLC8A1 SNTA1
2 dendritic spine GO:0043197 9.46 KCNJ2 SLC8A1
3 sarcolemma GO:0042383 9.46 CAV3 SCN5A SLC8A1 SNTA1
4 caveola GO:0005901 9.43 CAV3 SCN5A
5 Z disc GO:0030018 9.43 CAV3 SCN5A SLC8A1
6 lateral plasma membrane GO:0016328 9.4 SCN5A SNTA1
7 neuromuscular junction GO:0031594 9.37 CAV3 SNTA1
8 intercalated disc GO:0014704 9.26 CAV3 KCNJ2 SCN5A SLC8A1
9 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 28)
id Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.89 HCN4 KCNJ2 SCN5A SLC8A1
2 transmembrane transport GO:0055085 9.81 HCN4 SCN5A SLC8A1
3 regulation of ion transmembrane transport GO:0034765 9.75 HCN4 KCNJ2 SCN5A
4 sodium ion transport GO:0006814 9.72 HCN4 SCN5A SLC8A1
5 sodium ion transmembrane transport GO:0035725 9.65 HCN4 SCN5A SLC8A1
6 regulation of membrane potential GO:0042391 9.63 CAV3 HCN4
7 cellular response to cAMP GO:0071320 9.63 HCN4 SLC8A1
8 cardiac conduction GO:0061337 9.62 KCNJ2 SCN5A
9 cardiac muscle contraction GO:0060048 9.62 SCN5A SLC8A1
10 regulation of calcium ion transport GO:0051924 9.61 CAV3 SLC8A1
11 telencephalon development GO:0021537 9.61 SCN5A SLC8A1
12 regulation of cardiac muscle contraction GO:0055117 9.6 CAV3 HCN4
13 cardiac muscle cell action potential involved in contraction GO:0086002 9.58 KCNJ2 SCN5A
14 regulation of postsynaptic membrane potential GO:0060078 9.58 HCN4 SCN5A SLC8A1
15 regulation of cardiac muscle cell contraction GO:0086004 9.57 KCNJ2 SCN5A
16 relaxation of cardiac muscle GO:0055119 9.56 KCNJ2 SLC8A1
17 muscle contraction GO:0006936 9.56 CAV3 HCN4 SLC8A1 SNTA1
18 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.54 CAV3 SCN5A
19 regulation of heart rate by cardiac conduction GO:0086091 9.54 HCN4 KCNJ2 SCN5A
20 regulation of sodium ion transmembrane transport GO:1902305 9.52 SCN5A SNTA1
21 regulation of cardiac muscle cell action potential involved in regulation of contraction GO:0098909 9.51 CAV3 HCN4
22 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.5 CAV3 SCN5A SNTA1
23 cardiac muscle cell development GO:0055013 9.49 CAV3 SLC8A1
24 SA node cell action potential GO:0086015 9.46 HCN4 SCN5A
25 membrane depolarization during SA node cell action potential GO:0086046 9.43 HCN4 SCN5A
26 ventricular cardiac muscle cell action potential GO:0086005 9.33 CAV3 SCN5A SNTA1
27 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.26 HCN4 KCNJ2 SCN5A SLC8A1
28 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:

id Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.5 SCN5A SLC8A1 SNTA1
2 ion channel activity GO:0005216 9.46 HCN4 SCN5A
3 sodium channel regulator activity GO:0017080 9.43 CAV3 SNTA1
4 sodium channel activity GO:0005272 9.4 HCN4 SCN5A
5 voltage-gated sodium channel activity GO:0005248 9.37 HCN4 SCN5A
6 voltage-gated ion channel activity GO:0005244 9.33 HCN4 KCNJ2 SCN5A
7 ankyrin binding GO:0030506 9.26 SCN5A SLC8A1
8 ion channel binding GO:0044325 9.26 CAV3 SCN5A SLC8A1 SNTA1
9 nitric-oxide synthase binding GO:0050998 8.8 CAV3 SCN5A SNTA1

Sources for Long Qt Syndrome 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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