LQT9
MCID: LNG053
MIFTS: 44

Long Qt Syndrome 9 (LQT9) malady

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Long Qt Syndrome 9

Aliases & Descriptions for Long Qt Syndrome 9:

Name: Long Qt Syndrome 9 54 12 50 24 66 29 14 69
Lqt9 12 50 24 66
Long Qt Syndrome-9 13
Lqt 9 24

Characteristics:

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... (611818) more...

MalaCards based summary : Long Qt Syndrome 9, also known as lqt9, is related to long qt syndrome 2 and long qt syndrome 1, and has symptoms including prolonged qt interval and ventricular arrhythmia. 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 Aripiprazole and Valproic Acid 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 : 66 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 26)
id Related Disease Score Top Affiliating Genes
1 long qt syndrome 2 11.1
2 long qt syndrome 1 10.9
3 familial sick sinus syndrome 10.1 KCNJ2 SCN5A
4 isolated encephalocele 10.1 KCNJ2 SCN5A
5 multicentric carpotarsal osteolysis syndrome 10.1 SCN5A SNTA1
6 keppen-lubinsky syndrome 10.1 KCNJ2 SCN5A
7 parkinson disease 20, early-onset 10.1 KCNJ2 SCN5A
8 short qt syndrome 2 10.0 CAV3 SCN5A
9 micturation-induced seizures 10.0 HCN4 SCN5A
10 uterine fibroid 10.0 HCN4 SCN5A
11 tardbp-related frontotemporal dementia 10.0 KCNJ2 SCN5A
12 rheumatic heart disease 10.0 HCN4 SCN5A
13 autosomal dominant nocturnal frontal lobe epilepsy 2 10.0 KCNJ2 SCN5A
14 squamous cell papilloma 10.0 HCN4 SCN5A
15 specific language impairment 4 10.0 CAV3 KCNJ2 SCN5A
16 atrial fibrillation, familial, 10 9.9 CAV3 SCN5A SNTA1
17 third-degree atrioventricular block 9.9 HCN4 SCN5A
18 antley-bixler syndrome 9.9 CAV3 HCN4 SCN5A
19 adams-oliver syndrome 9.9 HCN4 KCNJ2 SCN5A
20 pollen allergy 9.8 HCN4 SCN5A SNTA1
21 familial periodic paralysis 9.8 HCN4 SCN5A
22 atrial fibrillation, familial, 3 9.8 CAV3 KCNJ2 SCN5A SNTA1
23 hyperthyroxinemia 9.7 CAV3 KCNJ2 SCN5A SNTA1
24 long qt syndrome 9.7
25 cdkl5-related angelman-like syndrome 9.7 CAV3 SCN5A SLC8A1
26 lipodystrophy, familial partial, type 5 9.2 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

Clinical features from OMIM:

611818

Human phenotypes related to Long Qt Syndrome 9:

32
id Description HPO Frequency HPO Source Accession
1 prolonged qt interval 32 HP:0001657
2 ventricular arrhythmia 32 HP:0004308

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 CAV3 HCN4 KCNJ2 SCN5A SLC8A1
2 muscle MP:0005369 9.1 SNTA1 CAV3 HCN4 KCNJ2 SCN5A SLC8A1

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 100)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aripiprazole Approved, Investigational Phase 4,Phase 2 129722-12-9 60795
2
Valproic Acid Approved, Investigational Phase 4 99-66-1 3121
3 Anticonvulsants Phase 4
4 Antidepressive Agents Phase 4
5 Antimanic Agents Phase 4
6 Antipsychotic Agents Phase 4,Phase 2
7 Central Nervous System Depressants Phase 4,Phase 2,Phase 1
8 GABA Agents Phase 4
9 Lithium carbonate Phase 4 554-13-2
10 Neurotransmitter Agents Phase 4,Phase 2
11 Psychotropic Drugs Phase 4,Phase 2
12 Tranquilizing Agents Phase 4,Phase 2
13
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
14
Olanzapine Approved, Investigational Phase 2 132539-06-1 4585
15
Risperidone Approved, Investigational Phase 2 106266-06-2 5073
16
Amphotericin B Approved, Investigational Phase 2 1397-89-3 14956 5280965
17
Fluconazole Approved Phase 2 86386-73-4 3365
18
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
19
Tamoxifen Approved Phase 2 10540-29-1 2733526
20 Antiemetics Phase 2
21 Autonomic Agents Phase 2
22 Dopamine Agents Phase 2
23 Dopamine Antagonists Phase 2
24 Gastrointestinal Agents Phase 2
25 Neurotransmitter Uptake Inhibitors Phase 2
26 Peripheral Nervous System Agents Phase 2,Phase 1
27
Serotonin Phase 2 50-67-9 5202
28 Serotonin Agents Phase 2
29 Serotonin Antagonists Phase 2
30 Serotonin Uptake Inhibitors Phase 2
31 Anti-Bacterial Agents Phase 2,Phase 1
32 Anti-Infective Agents Phase 2,Phase 1
33 Antiparasitic Agents Phase 2,Phase 1
34 Antiprotozoal Agents Phase 2,Phase 1
35 Cytochrome P-450 CYP3A Inhibitors Phase 2,Phase 1
36 Cytochrome P-450 Enzyme Inhibitors Phase 2,Phase 1
37 Antifungal Agents Phase 2
38 Antineoplastic Agents, Hormonal Phase 2
39 Bone Density Conservation Agents Phase 2
40 Cytochrome P-450 CYP2C9 Inhibitors Phase 2
41 Estrogen Antagonists Phase 2
42 Estrogen Receptor Modulators Phase 2
43 Estrogens Phase 2
44 Hormone Antagonists Phase 2
45 Hormones Phase 2
46 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
47 Liposomal amphotericin B Phase 2
48 Selective Estrogen Receptor Modulators Phase 2
49 Steroid Synthesis Inhibitors Phase 2
50
Diltiazem Approved Phase 1 42399-41-7 39186

Interventional clinical trials:


id Name Status NCT ID Phase
1 A Study of Aripiprazole (Abilify) in Patients With Bipolar Mania Completed NCT00261443 Phase 4
2 A Safety Study Comparing LY2140023 to Atypical Antipsychotic Standard Treatment in Schizophrenic Patients Completed NCT00845026 Phase 2
3 Treatment With Tamoxifen in Cryptococcal Meningitis Not yet recruiting NCT03112031 Phase 2
4 Ability of Late Sodium or Calcium Current Block to Balance the ECG Effects of Potassium Current Block Completed NCT02308748 Phase 1
5 A Dose Ranging Escalation Study of Tramadol Hydrochloride in Healthy Volunteers Completed NCT01947920 Phase 1
6 CiPA Phase 1 ECG Biomarker Validation Study Recruiting NCT03070470 Phase 1
7 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:

66
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 9.88 HCN4 KCNJ2 SCN5A SLC8A1
2 transmembrane transport GO:0055085 9.81 HCN4 SCN5A SLC8A1
3 regulation of ion transmembrane transport GO:0034765 9.77 HCN4 KCNJ2 SCN5A
4 sodium ion transport GO:0006814 9.72 HCN4 SCN5A SLC8A1
5 sodium ion transmembrane transport GO:0035725 9.69 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 cardiac muscle cell action potential involved in regulation of contraction GO:0098909 9.54 CAV3 HCN4
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 ventricular cardiac muscle cell membrane repolarization GO:0060307 9.5 CAV3 SCN5A SNTA1
22 cardiac muscle cell development GO:0055013 9.49 CAV3 SLC8A1
23 SA node cell action potential GO:0086015 9.48 HCN4 SCN5A
24 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.46 CAV3 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 9.54 SCN5A SLC8A1 SNTA1
2 ion channel activity GO:0005216 9.46 HCN4 SCN5A
3 sodium channel activity GO:0005272 9.43 HCN4 SCN5A
4 voltage-gated ion channel activity GO:0005244 9.43 HCN4 KCNJ2 SCN5A
5 voltage-gated sodium channel activity GO:0005248 9.4 HCN4 SCN5A
6 sodium channel regulator activity GO:0017080 9.33 CAV3 SCN5A SNTA1
7 ankyrin binding GO:0030506 9.32 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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