MCID: LNG053
MIFTS: 27

Long Qt Syndrome 9 malady

Genetic diseases, Rare diseases categories

Summaries for Long Qt Syndrome 9

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OMIM:45 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 long qt syndrome-9, is related to long qt syndrome and long qt syndrome 1, and has symptoms including autosomal dominant inheritance, prolonged qt interval and ventricular arrhythmia. 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.

Aliases & Classifications for Long Qt Syndrome 9

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Long Qt Syndrome 9, Aliases & Descriptions:

Name: Long Qt Syndrome 9 45 41 60
Long Qt Syndrome-9 10 20 22
 
Lqt9 41


Classifications:

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


External Ids:

OMIM45 611818

Related Diseases for Long Qt Syndrome 9

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Diseases in the Long Qt Syndrome family:

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

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

idRelated DiseaseScoreTop Affiliating Genes
1long qt syndrome30.2CAV3, KCNJ2
2long qt syndrome 110.1

Symptoms for Long Qt Syndrome 9

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Clinical features from OMIM:

611818

HPO human phenotypes related to Long Qt Syndrome 9:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 prolonged qt interval HP:0001657
3 ventricular arrhythmia HP:0004308

Drugs & Therapeutics for Long Qt Syndrome 9

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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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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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MGI Mouse Phenotypes related to Long Qt Syndrome 9:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053859.1CAV3, KCNJ2
2MP:00053698.8CAV3, KCNJ2

Publications for Long Qt Syndrome 9

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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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UniProtKB/Swiss-Prot 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

Clinvar genetic disease variations for Long Qt Syndrome 9:

6
id Gene Variation Type Significance SNP ID Assembly Location
1CAV3NM_033337.2(CAV3): c.423C> G (p.Ser141Arg)single nucleotide variantPathogenicrs104893713GRCh37Chr 3, 8787520: 8787520
2CAV3NM_033337.2(CAV3): c.253G> A (p.Ala85Thr)single nucleotide variantPathogenicrs104893715GRCh37Chr 3, 8787350: 8787350
3NM_033337.2(CAV3): c.40G> C (p.Val14Leu)single nucleotide variantPathogenicrs121909281GRCh37Chr 3, 8775602: 8775602
4CAV3NM_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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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:
43Novoseek, 49PharmGKB, 24HMDB, 12DrugBank
See all sources

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

idCompoundScoreTop Affiliating Genes
1calcium43 49 24 1212.1CAV3, KCNJ2
2isoproterenol43 1210.0CAV3, KCNJ2
3phosphatidylinositol438.8CAV3, KCNJ2

GO Terms for genes affiliated with Long Qt Syndrome 9

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

idNameGO IDScoreTop Affiliating Genes
1T-tubuleGO:00303159.1CAV3, KCNJ2

Products for genes affiliated with Long Qt Syndrome 9

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Long Qt Syndrome 9

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet