SQT1
MCID: SHR031
MIFTS: 28

Short Qt Syndrome 1 (SQT1)

Categories: Cardiovascular diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic 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 57 72 29 6 70
Sqt1 57 72
Qt Syndrome, Short, Type 1 39
Short Qt Syndrome-1 13

Characteristics:

HPO:

31
short qt syndrome 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 609620
OMIM Phenotypic Series 57 PS609620
MeSH 44 D001145
MedGen 41 C1865020
UMLS 70 C1865020

Summaries for Short Qt Syndrome 1

OMIM® : 57 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) (Updated 20-May-2021)

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 and eye, and related phenotypes are sudden cardiac death and syncope

UniProtKB/Swiss-Prot : 72 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 11.0
2 short qt syndrome 3 10.9
3 familial short qt syndrome 10.1
4 cardiac conduction defect 10.0
5 ventricular fibrillation, paroxysmal familial, 1 10.0
6 short qt syndrome 10.0

Graphical network of the top 20 diseases related to Short Qt Syndrome 1:



Diseases related to Short Qt Syndrome 1

Symptoms & Phenotypes for Short Qt Syndrome 1

Human phenotypes related to Short Qt Syndrome 1:

31
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 31 HP:0001645
2 syncope 31 HP:0001279
3 paroxysmal atrial fibrillation 31 HP:0004757
4 shortened qt interval 31 HP:0012232
5 palpitations 31 HP:0001962

Clinical features from OMIM®:

609620 (Updated 20-May-2021)

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 29 KCNH2

Anatomical Context for Short Qt Syndrome 1

MalaCards organs/tissues related to Short Qt Syndrome 1:

40
Heart, Eye

Publications for Short Qt Syndrome 1

Articles related to Short Qt Syndrome 1:

(show all 42)
# Title Authors PMID Year
1
Short QT syndrome and atrial fibrillation caused by mutation in KCNH2. 57 6
15828882 2005
2
Sudden death associated with short-QT syndrome linked to mutations in HERG. 6 57
14676148 2004
3
Short QT Syndrome: a familial cause of sudden death. 6 57
12925462 2003
4
Idiopathic short QT interval: a new clinical syndrome? 6 57
11173780 2000
5
A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene. 57 61
15761194 2005
6
A new KCNQ1 mutation at the S5 segment that impairs its association with KCNE1 is responsible for short QT syndrome. 57
26168993 2015
7
Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. 6
22949429 2012
8
Not all hERG pore domain mutations have a severe phenotype: G584S has an inactivation gating defect with mild phenotype compared to G572S, which has a dominant negative trafficking defect and a severe phenotype. 6
19490267 2009
9
Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population. 57
16132053 2005
10
Short QT syndrome. 57
15890322 2005
11
Mutation in the KCNQ1 gene leading to the short QT-interval syndrome. 57
15159330 2004
12
Survey of the coding region of the HERG gene in long QT syndrome reveals six novel mutations and an amino acid polymorphism with possible phenotypic effects. 6
10862094 2000
13
Sinus node function and ventricular repolarization during exercise stress test in long QT syndrome patients with KvLQT1 and HERG potassium channel defects. 6
10483966 1999
14
Draft genome sequencing data of a pathogenic Pantoea stewartii subspecies stewartii strain SQT1 causing bronzing disease of jackfruit in Malaysia. 61
32395592 2020
15
Pharmacotherapeutic Effects of Quinidine on Short QT Syndrome by Using Purkinje-Ventricle Model: A Simulation Study. 61
31946488 2019
16
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. 61
30496390 2019
17
Emerging therapeutic targets in the short QT syndrome. 61
29697308 2018
18
In silico Assessment of Pharmacotherapy for Human Atrial Patho-Electrophysiology Associated With hERG-Linked Short QT Syndrome. 61
30687112 2018
19
Postmortem Genetic Testing for Cardiac Ion Channelopathies in Stillbirths. 61
29874177 2018
20
Computational Analysis of the Mode of Action of Disopyramide and Quinidine on hERG-Linked Short QT Syndrome in Human Ventricles. 61
29085299 2017
21
In silico assessment of the effects of quinidine, disopyramide and E-4031 on short QT syndrome variant 1 in the human ventricles. 61
28632743 2017
22
Patient Outcomes From a Specialized Inherited Arrhythmia Clinic. 61
26743238 2016
23
Co-translational capturing of nascent ribosomal proteins by their dedicated chaperones. 61
26112308 2015
24
Genotype-dependent differences in age of manifestation and arrhythmia complications in short QT syndrome. 61
25974115 2015
25
Ranolazine inhibition of hERG potassium channels: drug-pore interactions and reduced potency against inactivation mutants. 61
24877995 2014
26
Differential effects of the β-adrenoceptor blockers carvedilol and metoprolol on SQT1- and SQT2-mutant channels. 61
23718892 2013
27
Congenital short QT syndrome: landmarks of the newest arrhythmogenic cardiac channelopathy. 61
23677719 2013
28
Increased vulnerability of human ventricle to re-entrant excitation in hERG-linked variant 1 short QT syndrome. 61
22194679 2011
29
The hERG K(+) channel S4 domain L532P mutation: characterization at 37°C. 61
21777565 2011
30
A novel mutation in the KCNH2 gene associated with short QT syndrome. 61
21130771 2011
31
Congenital short QT syndrome. 61
20126594 2010
32
Cellular basis for atrial fibrillation in an experimental model of short QT1: implications for a pharmacological approach to therapy. 61
20042373 2010
33
hERG1a/1b heteromeric currents exhibit amplified attenuation of inactivation in variant 1 short QT syndrome. 61
19501051 2009
34
Comparative effects of the short QT N588K mutation at 37 degrees C on hERG K+ channel current during ventricular, Purkinje fibre and atrial action potentials: an action potential clamp study. 61
19439805 2009
35
Pharmacology of the short QT syndrome N588K-hERG K+ channel mutation: differential impact on selected class I and class III antiarrhythmic drugs. 61
18724381 2008
36
Computational analysis of the effects of the hERG channel opener NS1643 in a human ventricular cell model. 61
18452879 2008
37
Cellular basis for arrhythmogenesis in an experimental model of the SQT1 form of the short QT syndrome. 61
18362027 2008
38
Disopyramide is an effective inhibitor of mutant HERG K+ channels involved in variant 1 short QT syndrome. 61
16842817 2006
39
Short QT syndrome. 61
19804087 2006
40
Short QT syndrome. Genotype-phenotype correlations. 61
16226079 2005
41
Further insights into the effect of quinidine in short QT syndrome caused by a mutation in HERG. 61
15673388 2005
42
SQT1, which encodes an essential WD domain protein of Saccharomyces cerevisiae, suppresses dominant-negative mutations of the ribosomal protein gene QSR1. 61
9271392 1997

Variations for Short Qt Syndrome 1

ClinVar genetic disease variations for Short Qt Syndrome 1:

6 (show all 28)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KCNH2 NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser) SNV Pathogenic 67261 rs199473428 GRCh37: 7:150648731-150648731
GRCh38: 7:150951643-150951643
2 KCNH2 NM_172056.2(KCNH2):c.934C>T (p.Arg312Cys) SNV Pathogenic 67547 rs199472885 GRCh37: 7:150654573-150654573
GRCh38: 7:150957485-150957485
3 KCNH2 NM_172056.2(KCNH2):c.2104C>T (p.Gln702Ter) SNV Pathogenic 200407 rs794728382 GRCh37: 7:150648050-150648050
GRCh38: 7:150950962-150950962
4 KCNH2 NM_172056.2(KCNH2):c.1886A>G (p.Asn629Ser) SNV Pathogenic 67315 rs199472957 GRCh37: 7:150648595-150648595
GRCh38: 7:150951507-150951507
5 KCNH2 NM_172056.2(KCNH2):c.1764C>G (p.Asn588Lys) SNV Pathogenic 14436 rs104894021 GRCh37: 7:150648717-150648717
GRCh38: 7:150951629-150951629
6 KCNH2 NM_172056.2(KCNH2):c.1764C>A (p.Asn588Lys) SNV Pathogenic 14437 rs104894021 GRCh37: 7:150648717-150648717
GRCh38: 7:150951629-150951629
7 KCNH2 NM_172056.2(KCNH2):c.1838C>T (p.Thr613Met) SNV Pathogenic 67292 rs199473524 GRCh37: 7:150648643-150648643
GRCh38: 7:150951555-150951555
8 KCNH2 NM_172056.2(KCNH2):c.1128+1810C>T SNV Likely pathogenic 379235 rs972201049 GRCh37: 7:150652569-150652569
GRCh38: 7:150955481-150955481
9 KCNH2 NM_000238.3(KCNH2):c.3457C>T (p.His1153Tyr) SNV Uncertain significance 67497 rs199473035 GRCh37: 7:150642476-150642476
GRCh38: 7:150945388-150945388
10 KCNH2 NM_000238.3(KCNH2):c.3436A>T (p.Thr1146Ser) SNV Uncertain significance 359301 rs778879572 GRCh37: 7:150642497-150642497
GRCh38: 7:150945409-150945409
11 KCNH2 NM_000238.4(KCNH2):c.2717C>T (p.Ser906Leu) SNV Uncertain significance 67429 rs199473435 GRCh37: 7:150644942-150644942
GRCh38: 7:150947854-150947854
12 KCNH2 NM_172056.2(KCNH2):c.950A>G (p.Asn317Ser) SNV Uncertain significance 405346 rs779027664 GRCh37: 7:150654557-150654557
GRCh38: 7:150957469-150957469
13 KCNH2 NM_172056.2(KCNH2):c.865G>A (p.Glu289Lys) SNV Uncertain significance 67535 rs199472880 GRCh37: 7:150655198-150655198
GRCh38: 7:150958110-150958110
14 KCNH2 NM_172056.2(KCNH2):c.568G>A (p.Ala190Thr) SNV Uncertain significance 67512 rs150817714 GRCh37: 7:150655495-150655495
GRCh38: 7:150958407-150958407
15 KCNH2 NM_172056.2(KCNH2):c.451C>G (p.Pro151Ala) SNV Uncertain significance 405361 rs1060500674 GRCh37: 7:150656681-150656681
GRCh38: 7:150959593-150959593
16 KCNH2 NM_172056.2(KCNH2):c.446G>C (p.Gly149Ala) SNV Uncertain significance 67506 rs199472865 GRCh37: 7:150656686-150656686
GRCh38: 7:150959598-150959598
17 KCNH2 NM_172056.2(KCNH2):c.440A>G (p.His147Arg) SNV Uncertain significance 200285 rs768938134 GRCh37: 7:150656692-150656692
GRCh38: 7:150959604-150959604
18 KCNH2 NM_000238.4(KCNH2):c.2592+3G>A SNV Uncertain significance 402998 rs906562788 GRCh37: 7:150645941-150645941
GRCh38: 7:150948853-150948853
19 KCNH2 NM_172056.2(KCNH2):c.1341C>T (p.Tyr447=) SNV Uncertain significance 413336 rs367570298 GRCh37: 7:150649729-150649729
GRCh38: 7:150952641-150952641
20 KCNH2 NM_172056.2(KCNH2):c.1325C>T (p.Ala442Val) SNV Uncertain significance 456885 rs1554426225 GRCh37: 7:150649745-150649745
GRCh38: 7:150952657-150952657
21 KCNH2 NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) SNV Uncertain significance 67509 rs36210422 GRCh37: 7:150655537-150655537
GRCh38: 7:150958449-150958449
22 KCNH2 NM_000238.4(KCNH2):c.3320C>T (p.Ser1107Leu) SNV Uncertain significance 843735 GRCh37: 7:150643975-150643975
GRCh38: 7:150946887-150946887
23 KCNH2 NM_000238.4(KCNH2):c.2771G>C (p.Gly924Ala) SNV Uncertain significance 67438 rs199473009 GRCh37: 7:150644888-150644888
GRCh38: 7:150947800-150947800
24 KCNH2 NM_000238.4(KCNH2):c.551_559GCGCGGGCG[1] (p.184_186GAG[1]) Microsatellite Uncertain significance 200600 rs551056698 GRCh37: 7:150655495-150655503
GRCh38: 7:150958407-150958415
25 KCNH2 NM_000238.4(KCNH2):c.614C>T (p.Pro205Leu) SNV Uncertain significance 829864 rs1326885330 GRCh37: 7:150655449-150655449
GRCh38: 7:150958361-150958361
26 KCNH2 NM_000238.4(KCNH2):c.409A>G (p.Met137Val) SNV Uncertain significance 930960 GRCh37: 7:150656723-150656723
GRCh38: 7:150959635-150959635
27 KCNH2 NM_172056.2(KCNH2):c.872T>G (p.Met291Arg) SNV Uncertain significance 374955 rs199472881 GRCh37: 7:150655191-150655191
GRCh38: 7:150958103-150958103
28 KCNH2 NM_172056.2(KCNH2):c.1128+1865C>T SNV Uncertain significance 374954 rs200324802 GRCh37: 7:150652514-150652514
GRCh38: 7:150955426-150955426

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

72
# Symbol AA change Variation ID SNP ID
1 KCNH2 p.Asn588Lys VAR_023840 rs104894021

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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