LQT9
MCID: LNG053
MIFTS: 35

Long Qt Syndrome 9 (LQT9) malady

Summaries for Long Qt Syndrome 9

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46OMIM, 32MalaCards
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MalaCards: Long Qt Syndrome 9, also known as long qt syndrome-9, is related to sudden infant death syndrome and dilated cardiomyopathy. An important gene associated with Long Qt Syndrome 9 is CAV3 (caveolin 3), and among its related pathways are Antiarrhythmic Pathway, Pharmacodynamics and SIDS Susceptibility Pathways. The compounds isoproterenol and sodium have been mentioned in the context of this disorder. Related mouse phenotypes are cardiovascular system and muscle.

Description from OMIM:46 611818

Aliases & Classifications for Long Qt Syndrome 9

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Sources:
60UMLS, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM
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Aliases & Descriptions:

long qt syndrome 9 42 20 22 60
long qt syndrome-9 46
long qt syndrome 60
lqt9 42


Related Diseases for Long Qt Syndrome 9

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Long Qt Syndrome 1 family:

Long Qt Syndrome Long Qt Syndrome 10
Long Qt Syndrome 11 Long Qt Syndrome 2
Long Qt Syndrome 3 Long Qt Syndrome 4
Long Qt Syndrome 5 Long Qt Syndrome 6
Long Qt Syndrome 8 long qt syndrome 9
Long Qt Syndrome 12 Long Qt Syndrome 13
Long Qt Syndrome-2, Acquired Long Qt Syndrome 1, Acquired

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

(show top 50)    (show all 75)
idRelated DiseaseScoreTop Affiliating Genes
1sudden infant death syndrome30.9SCN5A, CAV3
2dilated cardiomyopathy30.4SCN5A
3familial atrial fibrillation30.3SCN5A
4long qt syndrome30.2SCN5A, KCNJ2, CAV3
5congenital heart defect30.0KCNJ2, SCN5A
6brugada syndrome10.7
7long qt syndrome 110.6
8atrioventricular block10.6
9jervell-lange nielsen syndrome10.5
10andersen-tawil syndrome10.5
11epilepsy syndrome10.5
12long qt syndrome 310.5
13hypertrophic cardiomyopathy10.5
14short qt syndrome10.5
15catecholaminergic polymorphic ventricular tachycardia10.5
16long qt syndrome 1110.5
17long qt syndrome 210.5
18long qt syndrome 510.5
19long qt syndrome 610.5
20long qt syndrome 1210.5
21long qt syndrome 1310.5
22syndactyly10.5
23timothy syndrome10.5
24n syndrome10.5
25long qt syndrome 1010.5
26long qt syndrome 410.5
27long qt syndrome 810.5
28hypokalemia10.3
29kearns-sayre syndrome10.2
30beckwith-wiedemann syndrome10.2
31tetralogy of fallot10.2
32familial hypertrophic cardiomyopathy10.2
33adult syndrome10.2
34williams syndrome10.2
35long qt syndrome 1, acquired10.2
36acquired long qt syndrome, reduced10.2
37right bundle branch block10.1
38marfan syndrome10.1
39supravalvular aortic stenosis10.1
40primary hyperparathyroidism10.1
41hypoparathyroidism10.1
42arrhythmogenic right ventricular dysplasia10.1
43congenital generalized lipodystrophy10.1
44panhypopituitarism10.1
45hemochromatosis10.1
46pain disorder10.1
47conduct disorder10.1
48hypoglycemia10.1
49peripartum cardiomyopathy10.1
50hypercalcemia10.1

Graphical network of the top 20 diseases related to Long Qt Syndrome 9:



Diseases related to long qt syndrome 9

Clinical Features for Long Qt Syndrome 9

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Sources:
46OMIM
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Clinical features from OMIM:

611818

Drugs & Therapeutics for Long Qt Syndrome 9

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Long Qt Syndrome 9

Drug clinical trials:

Search ClinicalTrials for Long Qt Syndrome 9

Search NIH Clinical Center for Long Qt Syndrome 9

Search CenterWatch for Long Qt Syndrome 9

Genetic Tests for Long Qt Syndrome 9

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20GeneTests, 22GTR
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Genetic tests related to Long Qt Syndrome 9:

id Genetic test Affiliating Genes
1 Long Qt Syndrome 920 22 CAV3

Anatomical Context for Long Qt Syndrome 9

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Animal Models for Long Qt Syndrome 9 or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Long Qt Syndrome 9:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.5SCN5A, CAV3, KCNJ2
2MP:00053698.2SCN5A, CAV3, KCNJ2

Publications for Long Qt Syndrome 9

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Genetic Variations for Long Qt Syndrome 9

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Long Qt Syndrome 9:

62
id Symbol AA change Variation ID SNP ID
1CAV3p.Thr78MetVAR_043695rs72546668
2CAV3p.Leu79ArgVAR_043696
3CAV3p.Ala85ThrVAR_043697
4CAV3p.Phe97CysVAR_043698
5CAV3p.Ser141ArgVAR_043699

Expression for genes affiliated with Long Qt Syndrome 9

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Long Qt Syndrome 9

Search GEO for disease gene expression data for Long Qt Syndrome 9.

Pathways for genes affiliated with Long Qt Syndrome 9

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Sources:
49PharmGKB, 37NCBI BioSystems Database
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Pathways related to Long Qt Syndrome 9 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1SCN5A, KCNJ2
29.0SCN5A, CAV3

Compounds for genes affiliated with Long Qt Syndrome 9

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Sources:
44Novoseek, 11DrugBank, 24HMDB, 49PharmGKB
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Compounds related to Long Qt Syndrome 9 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1isoproterenol44 1110.3CAV3, KCNJ2
2sodium44 2410.0SCN5A, CAV3
3potassium44 11 2411.0SCN5A, KCNJ2
4calcium44 49 11 2411.2SCN5A, CAV3, KCNJ2

GO Terms for genes affiliated with Long Qt Syndrome 9

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Sources:
16Gene Ontology
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Cellular components related to Long Qt Syndrome 9 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1T-tubuleGO:0303159.0SCN5A, CAV3
2cell surfaceGO:0099869.0SCN5A, CAV3
3caveolaGO:0059018.9SCN5A, CAV3
4sarcolemmaGO:0423838.7SCN5A, CAV3

Biological processes related to Long Qt Syndrome 9 according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1membrane depolarization involved in regulation of cardiac muscle cell action potentialGO:0860129.3SCN5A, KCNJ2
2regulation of cardiac muscle cell action potential involved in contractionGO:0860029.2SCN5A, KCNJ2
3regulation of ventricular cardiac muscle cell membrane depolarizationGO:0603739.1SCN5A, CAV3
4regulation of ventricular cardiac muscle cell membrane repolarizationGO:0603079.0CAV3, SCN5A
5regulation of heart rateGO:0020279.0SCN5A, CAV3
6regulation of ventricular cardiac muscle cell action potentialGO:0860058.9SCN5A, CAV3
7regulation of heart rate by cardiac conductionGO:0860918.8SCN5A, KCNJ2

Molecular functions related to Long Qt Syndrome 9 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ion channel bindingGO:0443259.0SCN5A, CAV3
2nitric-oxide synthase bindingGO:0509988.7SCN5A, CAV3

Products for genes affiliated with Long Qt Syndrome 9

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Long Qt Syndrome 9

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet