SQT1
MCID: SHR031
MIFTS: 24

Short Qt Syndrome 1 (SQT1)

Categories: Cardiovascular diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Short Qt Syndrome 1

MalaCards integrated aliases for Short Qt Syndrome 1:

Name: Short Qt Syndrome 1 58 76 30 6 74
Sqt1 58 76
Qt Syndrome, Short, Type 1 41
Short Qt Syndrome-1 13

Characteristics:

HPO:

33
short qt syndrome 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Short Qt Syndrome 1

OMIM : 58 Short QT syndrome is a cardiac channelopathy associated with a predisposition to atrial fibrillation and sudden cardiac death. Patients have a structurally normal heart, but electrocardiography (ECG) exhibits abbreviated QTc (Bazett's corrected QT) intervals of less than 360 ms (summary by Moreno et al., 2015). (609620)

MalaCards based summary : Short Qt Syndrome 1, also known as sqt1, is related to short qt syndrome 2 and short qt syndrome 3. An important gene associated with Short Qt Syndrome 1 is KCNH2 (Potassium Voltage-Gated Channel Subfamily H Member 2). Affiliated tissues include heart, skin and eye, and related phenotypes are syncope and cardiac arrest

UniProtKB/Swiss-Prot : 76 Short QT syndrome 1: A heart disorder characterized by idiopathic persistently and uniformly short QT interval on ECG in the absence of structural heart disease in affected individuals. It causes syncope and sudden death.

Related Diseases for Short Qt Syndrome 1

Diseases in the Short Syndrome family:

Short Qt Syndrome 1 Short Qt Syndrome 2
Short Qt Syndrome 3 Short Qt Syndrome
Familial Short Qt Syndrome

Diseases related to Short Qt Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 short qt syndrome 2 11.5
2 short qt syndrome 3 11.1
3 ventricular fibrillation, paroxysmal familial, 1 9.9
4 short qt syndrome 9.9

Symptoms & Phenotypes for Short Qt Syndrome 1

Human phenotypes related to Short Qt Syndrome 1:

33
# Description HPO Frequency HPO Source Accession
1 syncope 33 HP:0001279
2 cardiac arrest 33 HP:0001695
3 palpitations 33 HP:0001962
4 shortened qt interval 33 HP:0012232

Clinical features from OMIM:

609620

Drugs & Therapeutics for Short Qt Syndrome 1

Search Clinical Trials , NIH Clinical Center for Short Qt Syndrome 1

Genetic Tests for Short Qt Syndrome 1

Genetic tests related to Short Qt Syndrome 1:

# Genetic test Affiliating Genes
1 Short Qt Syndrome 1 30 KCNH2

Anatomical Context for Short Qt Syndrome 1

MalaCards organs/tissues related to Short Qt Syndrome 1:

42
Heart, Skin, Eye, Testes

Publications for Short Qt Syndrome 1

Articles related to Short Qt Syndrome 1:

(show all 13)
# Title Authors Year
1
Transgenic short-QT syndrome 1 rabbits mimic the human disease phenotype with QT/action potential duration shortening in the atria and ventricles and increased ventricular tachycardia/ventricular fibrillation inducibility. ( 30496390 )
2019
2
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. ( 27854360 )
2017
3
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. ( 25356965 )
2015
4
Differential effects of the β-adrenoceptor blockers carvedilol and metoprolol on SQT1- and SQT2-mutant channels. ( 23718892 )
2013
5
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. ( 23788249 )
2013
6
Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. ( 23994779 )
2013
7
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). ( 21810866 )
2011
8
Cellular basis for arrhythmogenesis in an experimental model of the SQT1 form of the short QT syndrome. ( 18362027 )
2008
9
Short QT syndrome and atrial fibrillation caused by mutation in KCNH2. ( 15828882 )
2005
10
Sudden death associated with short-QT syndrome linked to mutations in HERG. ( 14676148 )
2004
11
Short QT Syndrome: a familial cause of sudden death. ( 12925462 )
2003
12
Idiopathic short QT interval: a new clinical syndrome? ( 11173780 )
2000
13
SQT1, which encodes an essential WD domain protein of Saccharomyces cerevisiae, suppresses dominant-negative mutations of the ribosomal protein gene QSR1. ( 9271392 )
1997

Variations for Short Qt Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Short Qt Syndrome 1:

76
# Symbol AA change Variation ID SNP ID
1 KCNH2 p.Asn588Lys VAR_023840 rs104894021

ClinVar genetic disease variations for Short Qt Syndrome 1:

6 (show all 45)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNH2 NM_000238.3(KCNH2): c.1764C> G (p.Asn588Lys) single nucleotide variant Pathogenic rs104894021 GRCh37 Chromosome 7, 150648717: 150648717
2 KCNH2 NM_000238.3(KCNH2): c.1764C> G (p.Asn588Lys) single nucleotide variant Pathogenic rs104894021 GRCh38 Chromosome 7, 150951629: 150951629
3 KCNH2 NM_000238.3(KCNH2): c.1764C> A (p.Asn588Lys) single nucleotide variant Pathogenic rs104894021 GRCh37 Chromosome 7, 150648717: 150648717
4 KCNH2 NM_000238.3(KCNH2): c.1764C> A (p.Asn588Lys) single nucleotide variant Pathogenic rs104894021 GRCh38 Chromosome 7, 150951629: 150951629
5 KCNH2 NM_000238.3(KCNH2): c.1750G> A (p.Gly584Ser) single nucleotide variant Pathogenic/Likely pathogenic rs199473428 GRCh37 Chromosome 7, 150648731: 150648731
6 KCNH2 NM_000238.3(KCNH2): c.1750G> A (p.Gly584Ser) single nucleotide variant Pathogenic/Likely pathogenic rs199473428 GRCh38 Chromosome 7, 150951643: 150951643
7 KCNH2 NM_000238.3(KCNH2): c.1886A> G (p.Asn629Ser) single nucleotide variant Pathogenic rs199472957 GRCh37 Chromosome 7, 150648595: 150648595
8 KCNH2 NM_000238.3(KCNH2): c.1886A> G (p.Asn629Ser) single nucleotide variant Pathogenic rs199472957 GRCh38 Chromosome 7, 150951507: 150951507
9 KCNH2 NM_000238.3(KCNH2): c.2717C> T (p.Ser906Leu) single nucleotide variant Uncertain significance rs199473435 GRCh37 Chromosome 7, 150644942: 150644942
10 KCNH2 NM_000238.3(KCNH2): c.2717C> T (p.Ser906Leu) single nucleotide variant Uncertain significance rs199473435 GRCh38 Chromosome 7, 150947854: 150947854
11 KCNH2 NM_000238.3(KCNH2): c.3457C> T (p.His1153Tyr) single nucleotide variant Uncertain significance rs199473035 GRCh37 Chromosome 7, 150642476: 150642476
12 KCNH2 NM_000238.3(KCNH2): c.3457C> T (p.His1153Tyr) single nucleotide variant Uncertain significance rs199473035 GRCh38 Chromosome 7, 150945388: 150945388
13 KCNH2 NM_000238.3(KCNH2): c.446G> C (p.Gly149Ala) single nucleotide variant Uncertain significance rs199472865 GRCh37 Chromosome 7, 150656686: 150656686
14 KCNH2 NM_000238.3(KCNH2): c.446G> C (p.Gly149Ala) single nucleotide variant Uncertain significance rs199472865 GRCh38 Chromosome 7, 150959598: 150959598
15 KCNH2 NM_000238.3(KCNH2): c.568G> A (p.Ala190Thr) single nucleotide variant Uncertain significance rs150817714 GRCh37 Chromosome 7, 150655495: 150655495
16 KCNH2 NM_000238.3(KCNH2): c.568G> A (p.Ala190Thr) single nucleotide variant Uncertain significance rs150817714 GRCh38 Chromosome 7, 150958407: 150958407
17 KCNH2 NM_000238.3(KCNH2): c.865G> A (p.Glu289Lys) single nucleotide variant Uncertain significance rs199472880 GRCh37 Chromosome 7, 150655198: 150655198
18 KCNH2 NM_000238.3(KCNH2): c.865G> A (p.Glu289Lys) single nucleotide variant Uncertain significance rs199472880 GRCh38 Chromosome 7, 150958110: 150958110
19 KCNH2 NM_000238.3(KCNH2): c.934C> T (p.Arg312Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199472885 GRCh37 Chromosome 7, 150654573: 150654573
20 KCNH2 NM_000238.3(KCNH2): c.934C> T (p.Arg312Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199472885 GRCh38 Chromosome 7, 150957485: 150957485
21 KCNH2 NM_000238.3(KCNH2): c.934C> T (p.Arg312Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199472885 NCBI36 Chromosome 7, 150285506: 150285506
22 KCNH2 NM_000238.3(KCNH2): c.2104C> T (p.Gln702Ter) single nucleotide variant Pathogenic rs794728382 GRCh38 Chromosome 7, 150950962: 150950962
23 KCNH2 NM_000238.3(KCNH2): c.2104C> T (p.Gln702Ter) single nucleotide variant Pathogenic rs794728382 GRCh37 Chromosome 7, 150648050: 150648050
24 KCNH2 NM_000238.3(KCNH2): c.560_568delGCGCGGGCG (p.Gly187_Gly189del) deletion Conflicting interpretations of pathogenicity rs551056698 GRCh37 Chromosome 7, 150655495: 150655503
25 KCNH2 NM_000238.3(KCNH2): c.560_568delGCGCGGGCG (p.Gly187_Gly189del) deletion Conflicting interpretations of pathogenicity rs551056698 GRCh38 Chromosome 7, 150958407: 150958415
26 KCNH2 NM_000238.3(KCNH2): c.440A> G (p.His147Arg) single nucleotide variant Uncertain significance rs768938134 GRCh37 Chromosome 7, 150656692: 150656692
27 KCNH2 NM_000238.3(KCNH2): c.440A> G (p.His147Arg) single nucleotide variant Uncertain significance rs768938134 GRCh38 Chromosome 7, 150959604: 150959604
28 KCNH2 NM_000238.3(KCNH2): c.3436A> T (p.Thr1146Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs778879572 GRCh37 Chromosome 7, 150642497: 150642497
29 KCNH2 NM_000238.3(KCNH2): c.3436A> T (p.Thr1146Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs778879572 GRCh38 Chromosome 7, 150945409: 150945409
30 KCNH2 NM_001204798.1(KCNH2): c.78C> T (p.Ala26=) single nucleotide variant Conflicting interpretations of pathogenicity rs200324802 GRCh38 Chromosome 7, 150955426: 150955426
31 KCNH2 NM_001204798.1(KCNH2): c.78C> T (p.Ala26=) single nucleotide variant Conflicting interpretations of pathogenicity rs200324802 GRCh37 Chromosome 7, 150652514: 150652514
32 KCNH2 NM_000238.3(KCNH2): c.872T> G (p.Met291Arg) single nucleotide variant Uncertain significance rs199472881 GRCh38 Chromosome 7, 150958103: 150958103
33 KCNH2 NM_000238.3(KCNH2): c.872T> G (p.Met291Arg) single nucleotide variant Uncertain significance rs199472881 GRCh37 Chromosome 7, 150655191: 150655191
34 KCNH2 NM_000238.3(KCNH2): c.1128+1810C> T single nucleotide variant Likely pathogenic rs972201049 GRCh37 Chromosome 7, 150652569: 150652569
35 KCNH2 NM_000238.3(KCNH2): c.1128+1810C> T single nucleotide variant Likely pathogenic rs972201049 GRCh38 Chromosome 7, 150955481: 150955481
36 KCNH2 NM_000238.3(KCNH2): c.2592+3G> A single nucleotide variant Uncertain significance rs906562788 GRCh38 Chromosome 7, 150948853: 150948853
37 KCNH2 NM_000238.3(KCNH2): c.2592+3G> A single nucleotide variant Uncertain significance rs906562788 GRCh37 Chromosome 7, 150645941: 150645941
38 KCNH2 NM_000238.3(KCNH2): c.1341C> T (p.Tyr447=) single nucleotide variant Conflicting interpretations of pathogenicity rs367570298 GRCh37 Chromosome 7, 150649729: 150649729
39 KCNH2 NM_000238.3(KCNH2): c.1341C> T (p.Tyr447=) single nucleotide variant Conflicting interpretations of pathogenicity rs367570298 GRCh38 Chromosome 7, 150952641: 150952641
40 KCNH2 NM_000238.3(KCNH2): c.950A> G (p.Asn317Ser) single nucleotide variant Uncertain significance rs779027664 GRCh37 Chromosome 7, 150654557: 150654557
41 KCNH2 NM_000238.3(KCNH2): c.950A> G (p.Asn317Ser) single nucleotide variant Uncertain significance rs779027664 GRCh38 Chromosome 7, 150957469: 150957469
42 KCNH2 NM_000238.3(KCNH2): c.451C> G (p.Pro151Ala) single nucleotide variant Uncertain significance rs1060500674 GRCh38 Chromosome 7, 150959593: 150959593
43 KCNH2 NM_000238.3(KCNH2): c.451C> G (p.Pro151Ala) single nucleotide variant Uncertain significance rs1060500674 GRCh37 Chromosome 7, 150656681: 150656681
44 KCNH2 NM_000238.3(KCNH2): c.1325C> T (p.Ala442Val) single nucleotide variant Uncertain significance rs1554426225 GRCh37 Chromosome 7, 150649745: 150649745
45 KCNH2 NM_000238.3(KCNH2): c.1325C> T (p.Ala442Val) single nucleotide variant Uncertain significance rs1554426225 GRCh38 Chromosome 7, 150952657: 150952657

Expression for Short Qt Syndrome 1

Search GEO for disease gene expression data for Short Qt Syndrome 1.

Pathways for Short Qt Syndrome 1

GO Terms for Short Qt Syndrome 1

Sources for Short Qt Syndrome 1

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