LQT9
MCID: LNG053
MIFTS: 28

Long Qt Syndrome 9 (LQT9) malady

Genetic diseases, Rare diseases categories
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Summaries for Long Qt Syndrome 9

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47OMIM, 33MalaCards
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MalaCards: Long Qt Syndrome 9, also known as long qt syndrome, is related to long qt syndrome and long qt syndrome 1. An important gene associated with Long Qt Syndrome 9 is CAV3 (caveolin 3). The compounds calcium and isoproterenol 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

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Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 62UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Aliases & Descriptions:

long qt syndrome 9 43 20 22 47 62
long qt syndrome 62
lqt9 43


Related Diseases for Long Qt Syndrome 9

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Sources:
17GeneCards, 18GeneDecks
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Symptoms for Long Qt Syndrome 9

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47OMIM
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Clinical features from OMIM:

611818

Drugs & Therapeutics for Long Qt Syndrome 9

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Long Qt Syndrome 9

Search NIH Clinical Center 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:
37MGI
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MGI Mouse Phenotypes related to Long Qt Syndrome 9:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053859.1CAV3, KCNJ2
2MP:00053698.8CAV3, KCNJ2

Publications for Long Qt Syndrome 9

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52PubMed
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Articles related to Long Qt Syndrome 9:

idTitleAuthorsYear
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

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Long Qt Syndrome 9:

64
id Symbol AA change Variation ID SNP ID
1CAV3p.Thr78MetVAR_043695rs72546668
2CAV3p.Leu79ArgVAR_043696
3CAV3p.Ala85ThrVAR_043697
4CAV3p.Phe97CysVAR_043698
5CAV3p.Ser141ArgVAR_043699

Clinvar genetic disease variations for Long Qt Syndrome 9:

1
id Gene Name Type Significance SNP ID Assembly Location
1KCNQ1NM_000218.2(KCNQ1): c.905C> T (p.Ala302Val)single nucleotide variantLikely pathogenic, Pathogenicrs193922365GRCh37Chr 11, 2594200: 2594200
2CAV3NM_033337.2(CAV3): c.423C> G (p.Ser141Arg)single nucleotide variantPathogenicrs104893713GRCh37Chr 3, 8787520: 8787520
3CAV3NM_033337.2(CAV3): c.233C> T (p.Thr78Met)single nucleotide variantBenign, Likely benign, Pathogenic, Uncertain significancers72546668GRCh37Chr 3, 8787330: 8787330
4CAV3NM_033337.2(CAV3): c.253G> A (p.Ala85Thr)single nucleotide variantPathogenicrs104893715GRCh37Chr 3, 8787350: 8787350
5NM_033337.2(CAV3): c.40G> C (p.Val14Leu)single nucleotide variantPathogenicrs121909281GRCh37Chr 3, 8775602: 8775602
6CAV3NM_033337.2(CAV3): c.236T> G (p.Leu79Arg)single nucleotide variantPathogenicrs121909282GRCh37Chr 3, 8787333: 8787333

Expression for genes affiliated with Long Qt Syndrome 9

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2BioGPS, 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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Compounds for genes affiliated with Long Qt Syndrome 9

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Sources:
45Novoseek, 51PharmGKB, 24HMDB, 11DrugBank
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Compounds related to Long Qt Syndrome 9 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1calcium45 51 24 1112.1CAV3, KCNJ2
2isoproterenol45 1110.0CAV3, KCNJ2
3phosphatidylinositol458.8CAV3, 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:0303159.1CAV3, KCNJ2

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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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet