LQT9
MCID: LNG053
MIFTS: 32

Long Qt Syndrome 9 (LQT9) malady

Summaries for Long Qt Syndrome 9

Sources:
47OMIM, 33MalaCards
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MalaCards: Long Qt Syndrome 9, also known as long qt syndrome-9, is related to sudden infant death syndrome and familial atrial fibrillation. 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:47 611818

Aliases & Classifications for Long Qt Syndrome 9

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 61UMLS
See all sources

Aliases & Descriptions:

long qt syndrome 9 43 20 22 61
long qt syndrome-9 47
long qt syndrome 61
lqt9 43


Related Diseases for Long Qt Syndrome 9

Sources:
17GeneCards, 18GeneDecks
See all sources

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 85)
idRelated DiseaseScoreTop Affiliating Genes
1sudden infant death syndrome30.9SCN5A, CAV3
2familial atrial fibrillation30.3SCN5A
3n syndrome11.1
4char syndrome10.8
5brugada syndrome10.7
6atrioventricular block10.6
7jervell-lange nielsen syndrome10.6
8andersen-tawil syndrome10.5
9long qt syndrome 310.5
10hypertrophic cardiomyopathy10.5
11catecholaminergic polymorphic ventricular tachycardia10.5
12short syndrome10.5
13long qt syndrome 1110.5
14long qt syndrome 210.5
15long qt syndrome 510.5
16long qt syndrome 610.5
17long qt syndrome 1210.5
18long qt syndrome 1310.5
19syncope10.5
20syndactyly10.5
21timothy syndrome10.5
22long qt syndrome 1010.5
23long qt syndrome 410.5
24long qt syndrome 810.5
25young syndrome10.4
26hypokalemia10.3
27micro syndrome10.3
28left ventricular noncompaction10.3
29sudden arrhythmia death syndrome10.3
30fainting10.3
31tako-tsubo cardiomyopathy10.3
32rothmund-thomson syndrome10.2
33kearns-sayre syndrome10.2
34beckwith-wiedemann syndrome10.2
35triple-a syndrome10.2
36adult syndrome10.2
37williams syndrome10.2
38stress cardiomyopathy10.2
39say syndrome10.2
40storm syndrome10.2
41seizure disorder10.2
42long qt syndrome 1, acquired10.2
43acquired long qt syndrome, reduced10.2
44marfan syndrome10.1
45supravalvular aortic stenosis10.1
46primary hyperparathyroidism10.1
47hypoparathyroidism10.1
48congenital generalized lipodystrophy10.1
49panhypopituitarism10.1
50hemochromatosis10.1

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

Sources:
47OMIM
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Clinical features from OMIM:

611818

Drugs & Therapeutics for Long Qt Syndrome 9

Sources:
5CenterWatch, 42NIH 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

Sources:
20GeneTests, 22GTR
See all sources

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

Animal Models for Long Qt Syndrome 9 or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Long Qt Syndrome 9:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.5SCN5A, CAV3, KCNJ2
2MP:00053698.2SCN5A, CAV3, KCNJ2

Publications for Long Qt Syndrome 9

Genetic Variations for Long Qt Syndrome 9

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Long Qt Syndrome 9:

63
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
50PharmGKB, 38NCBI BioSystems Database
See all sources

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

Sources:
45Novoseek, 11DrugBank, 24HMDB, 50PharmGKB
See all sources

Compounds related to Long Qt Syndrome 9 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1isoproterenol45 1110.3CAV3, KCNJ2
2sodium45 2410.0SCN5A, CAV3
3potassium45 11 2411.0SCN5A, KCNJ2
4calcium45 50 11 2411.2SCN5A, CAV3, KCNJ2

GO Terms for genes affiliated with Long Qt Syndrome 9

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:0603739.1CAV3, SCN5A
4regulation of ventricular cardiac muscle cell membrane repolarizationGO:0603079.0CAV3, SCN5A
5regulation of heart rateGO:0020279.0CAV3, SCN5A
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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Long Qt Syndrome 9

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet