SQTS
MCID: SHR030
MIFTS: 43

Short Qt Syndrome (SQTS)

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

MalaCards integrated aliases for Short Qt Syndrome:

Name: Short Qt Syndrome 12 76 25 37 29 6 15 73
Qt Syndrome, Short 40
Sqts 25

Classifications:



External Ids:

Disease Ontology 12 DOID:0050793
KEGG 37 H00725
UMLS 73 C2348199

Summaries for Short Qt Syndrome

Genetics Home Reference : 25 Short QT syndrome is a condition that can cause a disruption of the heart's normal rhythm (arrhythmia). In people with this condition, the heart (cardiac) muscle takes less time than usual to recharge between beats. The term "short QT" refers to a specific pattern of heart activity that is detected with an electrocardiogram (EKG), which is a test used to measure the electrical activity of the heart. In people with this condition, the part of the heartbeat known as the QT interval is abnormally short.

MalaCards based summary : Short Qt Syndrome, also known as qt syndrome, short, is related to familial short qt syndrome and cardiac conduction defect. An important gene associated with Short Qt Syndrome is KCNJ2 (Potassium Voltage-Gated Channel Subfamily J Member 2), and among its related pathways/superpathways are Transmission across Chemical Synapses and Aldosterone synthesis and secretion. Affiliated tissues include heart, testes and skin, and related phenotypes are cardiovascular system and homeostasis/metabolism

Disease Ontology : 12 A heart conduction disease that is characterized by heart arrhythmia defined as a short QT interval on an EKG (less than 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart.

Wikipedia : 76 Short QT syndrome is a very rare genetic disease of the electrical system of the heart, and is... more...

Related Diseases for Short Qt Syndrome

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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
# Related Disease Score Top Affiliating Genes
1 familial short qt syndrome 33.5 CACNA2D1 KCNH2 KCNJ2 KCNQ1
2 cardiac conduction defect 30.1 KCNH2 KCNQ1
3 atrial fibrillation 30.0 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
4 syncope 29.9 KCNH2 KCNJ2 KCNQ1
5 cardiac arrest 29.8 CACNB2 KCNH2 KCNQ1
6 catecholaminergic polymorphic ventricular tachycardia 29.8 KCNH2 KCNJ2 TRPM4
7 ventricular fibrillation, paroxysmal familial, 1 29.7 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1
8 hypertrophic cardiomyopathy 29.5 CACNA1C DES MYPN
9 heart disease 29.4 CACNA1C KCNE2 KCNH2 KCNJ2 KCNQ1
10 jervell and lange-nielsen syndrome 1 29.3 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1
11 long qt syndrome 29.1 CACNA1C CACNB2 KCNE1 KCNE2 KCNH2 KCNJ2
12 brugada syndrome 29.1 CACNA1C CACNA2D1 CACNB2 KCNE1 KCNE2 KCNH2
13 short qt syndrome 2 12.6
14 short qt syndrome 3 12.6
15 short qt syndrome 1 12.6
16 qt interval, variation in 11.1
17 depression 10.2
18 long qt syndrome 13 10.2 KCNH2 KCNQ1
19 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 10.1 KCNH2 KCNJ2 KCNQ1
20 benign neonatal seizures 10.1 KCNE2 KCNQ1
21 hypokalemic periodic paralysis, type 1 10.0 CACNA1C KCNJ2
22 right bundle branch block 10.0 CACNA1C CACNB2 TRPM4
23 heart conduction disease 9.9 KCNE1 KCNH2 KCNJ2 KCNQ1
24 long qt syndrome 12 9.8 KCNE1 KCNE2 KCNH2 KCNQ1
25 long qt syndrome 3 9.8 KCNE1 KCNE2 KCNH2 KCNQ1
26 sudden infant death syndrome 9.8
27 myopathy, spheroid body 9.8 DES MYPN
28 long qt syndrome 5 9.8 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
29 andersen cardiodysrhythmic periodic paralysis 9.8 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
30 long qt syndrome 2 9.8 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
31 intrinsic cardiomyopathy 9.8 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
32 atrioventricular block 9.7 KCNE1 KCNE2 KCNH2 KCNQ1 TRPM4
33 familial isolated dilated cardiomyopathy 9.7 DES MYPN
34 timothy syndrome 9.7 CACNA1C CACNA2D1 CACNB2 KCNE1 KCNH2 KCNQ1
35 familial atrial fibrillation 9.7 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 KCNQ1OT1
36 long qt syndrome 6 9.6 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
37 cardiac arrhythmia 9.6 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
38 long qt syndrome 1 9.5 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
39 dilated cardiomyopathy 9.4 CACNA1C CACNB2 DES KCNH2 KCNQ1 MYPN

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



Diseases related to Short Qt Syndrome

Symptoms & Phenotypes for Short Qt Syndrome

MGI Mouse Phenotypes related to Short Qt Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.85 CACNA1C CACNA2D1 CACNB2 DES KCNH2 KCNJ2
2 homeostasis/metabolism MP:0005376 9.61 CACNA1C CACNB2 DES KCNE2 KCNH2 KCNJ2
3 muscle MP:0005369 9.23 CACNA1C CACNA2D1 DES KCNH2 KCNJ2 KCNQ1

Drugs & Therapeutics for Short Qt Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Molecular Genetic Screening and Identification of Congenital Arrhythmogenic Diseases Unknown status NCT00221832

Search NIH Clinical Center for Short Qt Syndrome

Genetic Tests for Short Qt Syndrome

Genetic tests related to Short Qt Syndrome:

# Genetic test Affiliating Genes
1 Short Qt Syndrome 29

Anatomical Context for Short Qt Syndrome

MalaCards organs/tissues related to Short Qt Syndrome:

41
Heart, Testes, Skin, Eye

Publications for Short Qt Syndrome

Articles related to Short Qt Syndrome:

(show top 50) (show all 168)
# Title Authors Year
1
Modeling Short QT Syndrome Using Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes. ( 29574456 )
2018
2
Sudden cardiac arrest during marathon training in a young adult with short QT syndrome. ( 29876509 )
2018
3
The diagnosis and management of short QT syndrome. ( 29501667 )
2018
4
Emerging therapeutic targets in the short QT syndrome. ( 29697308 )
2018
5
Action potential clamp characterization of the S631A hERG mutation associated with short QT syndrome. ( 30175559 )
2018
6
Human Atrial Arrhythmogenesis and Sinus Bradycardia in KCNQ1-Linked Short QT Syndrome: Insights From Computational Modelling. ( 30337886 )
2018
7
Recent Advances in Short QT Syndrome. ( 30420954 )
2018
8
Computational Analysis of the Action of Chloroquine on Short QT Syndrome Variant 1 and Variant 3 in Human Ventricles. ( 30441573 )
2018
9
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 )
2018
10
Implantable Cardioverter Defibrillator replacement guided by T wave safety margin in a short QT syndrome patient. ( 30548872 )
2018
11
The Phenotypic Spectrum of a MutationA Hotspot Responsible for theA Short QT Syndrome. ( 29759541 )
2017
12
Multiple clinical profiles of families with the short QT syndrome. ( 29016797 )
2017
13
Effects of island-distribution of mid-cardiomyocytes on ventricular electrical excitation associated with the KCNQ1-linked short QT syndrome. ( 29060698 )
2017
14
The Pharmacogenomics of a Mutation 'Hotspot' for the Short QT Syndrome. ( 28966985 )
2017
15
Antiarrhythmic properties of ivabradine in an experimental model of Short-QT- Syndrome. ( 28556923 )
2017
16
In silico assessment of the effects of quinidine, disopyramide and E-4031 on short QT syndrome variant 1 in the human ventricles. ( 28632743 )
2017
17
Short QT Syndrome and Hydroquinidine: Rare Diseases and Unavailable Drugs. ( 29241490 )
2017
18
In silico investigation of a KCNQ1 mutation associated with short QT syndrome. ( 28814790 )
2017
19
Effects of amiodarone on short QT syndrome variant 3 in human ventricles: a simulation study. ( 28592292 )
2017
20
Modelling the effects of quinidine, disopyramide, and E-4031 on short QT syndrome variant 3 in the human ventricles. ( 28812984 )
2017
21
Modelling the effects of chloroquine on<i>KCNJ2</i>-linked short QT syndrome. ( 29290967 )
2017
22
Atrial arrhythmogenicity of KCNJ2 mutations in short QT syndrome: Insights from virtual human atria. ( 28609477 )
2017
23
Short QT syndrome in pediatrics. ( 28303324 )
2017
24
Modeling the effects of amiodarone on short QT syndrome variant 2 in the human ventricles. ( 29060841 )
2017
25
Computational Analysis of the Mode of Action of Disopyramide and Quinidine on hERG-Linked Short QT Syndrome in Human Ventricles. ( 29085299 )
2017
26
Therapeutic effects of a taurine-magnesium coordination compound on experimental models of type 2 short QT syndrome. ( 29072257 )
2017
27
Pro-arrhythmogenic Effects of the V141M KCNQ1 Mutation in Short QT Syndrome and Its Potential Therapeutic Targets: Insights from Modeling. ( 29213224 )
2017
28
Could ivabradine be a new treatment for the short QT syndrome? ( 28640933 )
2017
29
Loss-of-activity-mutation in the cardiac chloride-bicarbonate exchanger AE3 causes short QT syndrome. ( 29167417 )
2017
30
Shortening of the Short Refractory Periods in Short QT Syndrome. ( 28566296 )
2017
31
The new kids on the block of arrhythmogenic disorders: Short QT syndrome and early repolarization. ( 28569435 )
2017
32
Impact of QTc formulae in the prevalence of short corrected QT interval and impact on probability and diagnosis of short QT syndrome. ( 28954836 )
2017
33
Short QT syndrome and ventricular tachycardia. ( 28165781 )
2017
34
Novel trigenic CACNA1C/DES/MYPN mutations in a family of hypertrophic cardiomyopathy with early repolarization and short QT syndrome. ( 28427417 )
2017
35
Erratum to: Novel trigenic CACNA1C/DES/MYPN mutations in a family of hypertrophic cardiomyopathy with early repolarization and short QT syndrome. ( 28490369 )
2017
36
Bystander Cardio Pulmonary Resuscitation Saves Life in a Patient with Short QT Syndrome. ( 27771688 )
2016
37
Ranolazine and Vernakalant Prevent Ventricular Arrhythmias in an Experimental Whole-Heart Model of Short QT Syndrome. ( 27283775 )
2016
38
Use of a subcutaneous ICD in a patient with short QT syndrome. ( 26783432 )
2016
39
Considering Ranolazine as a Potential Treatment for K(+) Channel Linked Short QT Syndrome. ( 27477620 )
2016
40
Structural interplay of KV7.1 and KCNE1 is essential for normal repolarization and is compromised in short QT syndrome 2 (KV7.1-A287T). ( 28491751 )
2016
41
Considering Ranolazine as a Potential Treatment for K+ Channel Linked Short QT Syndrome. ( 27477827 )
2016
42
Genotype-dependent differences in age of manifestation and arrhythmia complications in short QT syndrome. ( 25974115 )
2015
43
Computational analysis of the electromechanical consequences of short QT syndrome. ( 25717305 )
2015
44
Short QT syndrome in a 14-year-old patient: The first pediatric case from Turkey. ( 26139173 )
2015
45
A new KCNQ1 mutation at the S5 segment that impairs its association with KCNE1 is responsible for short QT syndrome. ( 26168993 )
2015
46
Characterization of a Chinese KCNQ1 mutation (R259H) that shortens repolarization and causes short QT syndrome 2. ( 26346102 )
2015
47
To the Editor--Altered in vivo systolic function in the short QT syndrome anticipated in silico. ( 26142296 )
2015
48
Carnitine deficiency induces a short QT syndrome. ( 26190315 )
2015
49
Usefulness of exercise test in the diagnosis of short QT syndrome. ( 25833882 )
2015
50
New echocardiographic insights in short QT syndrome: More than a channelopathy? ( 26001507 )
2015

Variations for Short Qt Syndrome

ClinVar genetic disease variations for Short Qt Syndrome:

6 (show top 50) (show all 354)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNQ1 NM_000218.2(KCNQ1): c.919G> C (p.Val307Leu) single nucleotide variant Pathogenic rs120074195 GRCh37 Chromosome 11, 2594214: 2594214
2 KCNQ1 NM_000218.2(KCNQ1): c.919G> C (p.Val307Leu) single nucleotide variant Pathogenic rs120074195 GRCh38 Chromosome 11, 2572984: 2572984
3 KCNJ2 NM_000891.2(KCNJ2): c.514G> A (p.Asp172Asn) single nucleotide variant Pathogenic rs104894584 GRCh37 Chromosome 17, 68171694: 68171694
4 KCNJ2 NM_000891.2(KCNJ2): c.514G> A (p.Asp172Asn) single nucleotide variant Pathogenic rs104894584 GRCh38 Chromosome 17, 70175553: 70175553
5 KCNH2 NM_000238.3(KCNH2): c.1764C> G (p.Asn588Lys) single nucleotide variant Pathogenic rs104894021 GRCh37 Chromosome 7, 150648717: 150648717
6 KCNH2 NM_000238.3(KCNH2): c.1764C> G (p.Asn588Lys) single nucleotide variant Pathogenic rs104894021 GRCh38 Chromosome 7, 150951629: 150951629
7 KCNH2 NM_000238.3(KCNH2): c.1764C> A (p.Asn588Lys) single nucleotide variant Pathogenic rs104894021 GRCh37 Chromosome 7, 150648717: 150648717
8 KCNH2 NM_000238.3(KCNH2): c.1764C> A (p.Asn588Lys) single nucleotide variant Pathogenic rs104894021 GRCh38 Chromosome 7, 150951629: 150951629
9 KCNJ2 NM_000891.2(KCNJ2): c.660C> T (p.Ser220=) single nucleotide variant Benign rs7221086 GRCh37 Chromosome 17, 68171840: 68171840
10 KCNJ2 NM_000891.2(KCNJ2): c.660C> T (p.Ser220=) single nucleotide variant Benign rs7221086 GRCh38 Chromosome 17, 70175699: 70175699
11 KCNQ1 NM_000218.2(KCNQ1): c.1590+14T> C single nucleotide variant Benign/Likely benign rs11024034 GRCh37 Chromosome 11, 2790163: 2790163
12 KCNQ1 NM_000218.2(KCNQ1): c.1590+14T> C single nucleotide variant Benign/Likely benign rs11024034 GRCh38 Chromosome 11, 2768933: 2768933
13 KCNQ1 NM_000218.2(KCNQ1): c.1927G> A (p.Gly643Ser) single nucleotide variant Benign/Likely benign rs1800172 GRCh37 Chromosome 11, 2869129: 2869129
14 KCNQ1 NM_000218.2(KCNQ1): c.1927G> A (p.Gly643Ser) single nucleotide variant Benign/Likely benign rs1800172 GRCh38 Chromosome 11, 2847899: 2847899
15 KCNQ1 NM_000218.2(KCNQ1): c.1942G> A (p.Val648Ile) single nucleotide variant Benign/Likely benign rs34150427 GRCh37 Chromosome 11, 2869144: 2869144
16 KCNQ1 NM_000218.2(KCNQ1): c.1942G> A (p.Val648Ile) single nucleotide variant Benign/Likely benign rs34150427 GRCh38 Chromosome 11, 2847914: 2847914
17 KCNQ1 NM_000218.2(KCNQ1): c.1222C> G (p.Pro408Ala) single nucleotide variant Benign/Likely benign rs28730756 GRCh37 Chromosome 11, 2608893: 2608893
18 KCNQ1 NM_000218.2(KCNQ1): c.1222C> G (p.Pro408Ala) single nucleotide variant Benign/Likely benign rs28730756 GRCh38 Chromosome 11, 2587663: 2587663
19 KCNQ1 NM_000218.2(KCNQ1): c.1394-14C> T single nucleotide variant Benign/Likely benign rs28730758 GRCh37 Chromosome 11, 2683177: 2683177
20 KCNQ1 NM_000218.2(KCNQ1): c.1394-14C> T single nucleotide variant Benign/Likely benign rs28730758 GRCh38 Chromosome 11, 2661947: 2661947
21 KCNQ1 NM_000218.2(KCNQ1): c.1455C> T (p.Phe485=) single nucleotide variant Benign/Likely benign rs17215465 GRCh37 Chromosome 11, 2683252: 2683252
22 KCNQ1 NM_000218.2(KCNQ1): c.1455C> T (p.Phe485=) single nucleotide variant Benign/Likely benign rs17215465 GRCh38 Chromosome 11, 2662022: 2662022
23 KCNQ1 NM_000218.2(KCNQ1): c.1638G> A (p.Ser546=) single nucleotide variant Benign rs1057128 GRCh37 Chromosome 11, 2797237: 2797237
24 KCNQ1 NM_000218.2(KCNQ1): c.1638G> A (p.Ser546=) single nucleotide variant Benign rs1057128 GRCh38 Chromosome 11, 2776007: 2776007
25 KCNQ1 NM_000218.2(KCNQ1): c.1986C> T (p.Tyr662=) single nucleotide variant Benign rs11601907 GRCh37 Chromosome 11, 2869188: 2869188
26 KCNQ1 NM_000218.2(KCNQ1): c.1986C> T (p.Tyr662=) single nucleotide variant Benign rs11601907 GRCh38 Chromosome 11, 2847958: 2847958
27 KCNQ1 NM_000218.2(KCNQ1): c.478-10G> A single nucleotide variant Benign rs28730752 GRCh37 Chromosome 11, 2591848: 2591848
28 KCNQ1 NM_000218.2(KCNQ1): c.478-10G> A single nucleotide variant Benign rs28730752 GRCh38 Chromosome 11, 2570618: 2570618
29 KCNQ1 NM_000218.2(KCNQ1): c.478-8C> T single nucleotide variant Benign/Likely benign rs150711844 GRCh37 Chromosome 11, 2591850: 2591850
30 KCNQ1 NM_000218.2(KCNQ1): c.478-8C> T single nucleotide variant Benign/Likely benign rs150711844 GRCh38 Chromosome 11, 2570620: 2570620
31 KCNQ1 NM_000218.2(KCNQ1): c.720C> T (p.His240=) single nucleotide variant Benign/Likely benign rs28730754 GRCh37 Chromosome 11, 2593279: 2593279
32 KCNQ1 NM_000218.2(KCNQ1): c.720C> T (p.His240=) single nucleotide variant Benign/Likely benign rs28730754 GRCh38 Chromosome 11, 2572049: 2572049
33 KCNQ1 NM_000218.2(KCNQ1): c.1189C> T (p.Arg397Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs199472776 GRCh37 Chromosome 11, 2608860: 2608860
34 KCNQ1 NM_000218.2(KCNQ1): c.1189C> T (p.Arg397Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs199472776 GRCh38 Chromosome 11, 2587630: 2587630
35 KCNQ1 NM_000218.2(KCNQ1): c.1179G> T (p.Lys393Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs12720457 GRCh37 Chromosome 11, 2608850: 2608850
36 KCNQ1 NM_000218.2(KCNQ1): c.1179G> T (p.Lys393Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs12720457 GRCh38 Chromosome 11, 2587620: 2587620
37 KCNQ1 NM_000218.2(KCNQ1): c.1355G> A (p.Arg452Gln) single nucleotide variant Uncertain significance rs145229963 GRCh37 Chromosome 11, 2610046: 2610046
38 KCNQ1 NM_000218.2(KCNQ1): c.1355G> A (p.Arg452Gln) single nucleotide variant Uncertain significance rs145229963 GRCh38 Chromosome 11, 2588816: 2588816
39 KCNH2 NM_000238.3(KCNH2): c.150G> T (p.Glu50Asp) single nucleotide variant not provided rs199472841 GRCh37 Chromosome 7, 150671956: 150671956
40 KCNH2 NM_000238.3(KCNH2): c.150G> T (p.Glu50Asp) single nucleotide variant not provided rs199472841 GRCh38 Chromosome 7, 150974868: 150974868
41 KCNH2 NM_000238.3(KCNH2): c.1853C> T (p.Thr618Ile) single nucleotide variant not provided rs199472947 GRCh37 Chromosome 7, 150648628: 150648628
42 KCNH2 NM_000238.3(KCNH2): c.1853C> T (p.Thr618Ile) single nucleotide variant not provided rs199472947 GRCh38 Chromosome 7, 150951540: 150951540
43 KCNH2 NM_000238.3(KCNH2): c.3404G> A (p.Arg1135His) single nucleotide variant not provided rs199473547 GRCh37 Chromosome 7, 150642529: 150642529
44 KCNH2 NM_000238.3(KCNH2): c.3404G> A (p.Arg1135His) single nucleotide variant not provided rs199473547 GRCh38 Chromosome 7, 150945441: 150945441
45 CACNA1C NM_000719.6(CACNA1C): c.5918G> A (p.Arg1973Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs112414325 GRCh37 Chromosome 12, 2797746: 2797746
46 CACNA1C NM_000719.6(CACNA1C): c.5918G> A (p.Arg1973Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs112414325 GRCh38 Chromosome 12, 2688580: 2688580
47 KCNJ2 NM_000891.2(KCNJ2): c.1146C> T (p.Leu382=) single nucleotide variant Benign rs173135 GRCh37 Chromosome 17, 68172326: 68172326
48 KCNJ2 NM_000891.2(KCNJ2): c.1146C> T (p.Leu382=) single nucleotide variant Benign rs173135 GRCh38 Chromosome 17, 70176185: 70176185
49 KCNQ1 NM_000218.2(KCNQ1): c.1394-8C> T single nucleotide variant Benign/Likely benign rs371488379 GRCh38 Chromosome 11, 2661953: 2661953
50 KCNQ1 NM_000218.2(KCNQ1): c.1394-8C> T single nucleotide variant Benign/Likely benign rs371488379 GRCh37 Chromosome 11, 2683183: 2683183

Expression for Short Qt Syndrome

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

Pathways for Short Qt Syndrome

Pathways related to Short Qt Syndrome according to GeneCards Suite gene sharing:

(show all 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.76 CACNA2D1 CACNB2 KCNH2 KCNJ2 KCNQ1
2
Show member pathways
12.52 CACNA1C CACNA2D1 CACNB2 KCNE1 KCNQ1 TRPM4
3
Show member pathways
12.49 CACNA1C CACNA2D1 CACNB2 KCNJ2
4
Show member pathways
12.34 CACNA1C CACNA2D1 CACNB2 DES KCNE1 KCNE2
5
Show member pathways
12.18 CACNA1C CACNA2D1 CACNB2 DES
6 12.16 CACNA1C CACNB2 KCNE1 KCNE2 KCNH2 KCNJ2
7
Show member pathways
12.08 CACNA1C CACNA2D1 CACNB2
8
Show member pathways
11.97 CACNA1C CACNA2D1 CACNB2 DES
9
Show member pathways
11.96 KCNE2 KCNJ2 KCNQ1
10
Show member pathways
11.9 KCNH2 KCNJ2 KCNQ1
11 11.86 CACNA1C CACNA2D1 CACNB2
12
Show member pathways
11.81 CACNA1C CACNA2D1 CACNB2
13 11.56 CACNA1C CACNA2D1 CACNB2
14
Show member pathways
11.51 CACNA1C CACNA2D1 CACNB2 KCNE1 KCNE2 KCNQ1
15 11.39 CACNA1C CACNA2D1 CACNB2 KCNQ1
16 11.35 CACNA1C CACNA2D1 CACNB2
17 11.32 CACNA1C CACNA2D1 CACNB2
18 11.16 CACNA1C CACNB2
19 10.92 CACNA1C CACNB2 KCNE1 KCNE2 KCNH2 KCNJ2
20 10.86 KCNE1 KCNJ2 KCNQ1

GO Terms for Short Qt Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.93 CACNA1C CACNA2D1 CACNB2 DES KCNE1 KCNE2
2 Z disc GO:0030018 9.56 CACNA1C DES KCNE1 MYPN
3 sarcolemma GO:0042383 9.54 CACNA1C CACNB2 DES
4 voltage-gated calcium channel complex GO:0005891 9.5 CACNA1C CACNA2D1 CACNB2
5 T-tubule GO:0030315 9.43 CACNA2D1 KCNJ2
6 L-type voltage-gated calcium channel complex GO:1990454 9.13 CACNA1C CACNA2D1 CACNB2
7 voltage-gated potassium channel complex GO:0008076 9.02 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
8 membrane GO:0016020 10.14 CACNA1C CACNA2D1 CACNB2 DES KCNE1 KCNE2

Biological processes related to Short Qt Syndrome according to GeneCards Suite gene sharing:

(show all 38)
# Name GO ID Score Top Affiliating Genes
1 potassium ion transport GO:0006813 9.97 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
2 potassium ion transmembrane transport GO:0071805 9.96 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
3 ion transport GO:0006811 9.96 CACNA1C CACNA2D1 CACNB2 KCNE1 KCNE2 KCNH2
4 calcium ion transport GO:0006816 9.89 CACNA1C CACNA2D1 CACNB2 TRPM4
5 calcium ion transmembrane transport GO:0070588 9.88 CACNA1C CACNA2D1 CACNB2 TRPM4
6 ventricular cardiac muscle cell action potential GO:0086005 9.84 KCNE1 KCNE2 KCNH2 KCNQ1
7 positive regulation of potassium ion transmembrane transport GO:1901381 9.83 KCNE1 KCNH2 KCNJ2 KCNQ1
8 potassium ion export across plasma membrane GO:0097623 9.81 KCNE1 KCNE2 KCNH2 KCNQ1
9 cellular response to drug GO:0035690 9.8 KCNE2 KCNH2 KCNQ1
10 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.8 KCNE1 KCNE2 KCNH2 KCNQ1
11 potassium ion export GO:0071435 9.78 KCNE1 KCNE2 KCNH2 KCNQ1
12 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.77 CACNA2D1 KCNE1 KCNE2 KCNH2 KCNQ1
13 regulation of membrane repolarization GO:0060306 9.76 KCNE2 KCNH2 KCNJ2 KCNQ1
14 regulation of potassium ion transmembrane transport GO:1901379 9.75 KCNE1 KCNE2 KCNH2
15 membrane repolarization GO:0086009 9.73 KCNE1 KCNE2 KCNH2 KCNQ1
16 membrane depolarization during AV node cell action potential GO:0086045 9.72 CACNA1C CACNB2 TRPM4
17 cardiac muscle cell action potential involved in contraction GO:0086002 9.72 CACNA1C CACNA2D1 KCNE1 KCNE2 KCNJ2
18 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.71 KCNE1 KCNH2 KCNJ2 KCNQ1
19 cardiac muscle contraction GO:0060048 9.68 KCNH2 KCNQ1
20 potassium ion import across plasma membrane GO:1990573 9.67 KCNE2 KCNJ2
21 regulation of heart contraction GO:0008016 9.67 DES KCNQ1
22 potassium ion import GO:0010107 9.67 KCNE2 KCNJ2
23 calcium ion import GO:0070509 9.66 CACNA1C CACNB2
24 positive regulation of heart rate GO:0010460 9.66 KCNQ1 TRPM4
25 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.65 KCNE1 KCNE2
26 calcium ion transport into cytosol GO:0060402 9.65 CACNA1C CACNA2D1
27 cardiac conduction GO:0061337 9.65 CACNA1C TRPM4
28 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.64 CACNA1C KCNJ2
29 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.64 CACNA1C TRPM4
30 regulation of delayed rectifier potassium channel activity GO:1902259 9.63 KCNE1 KCNE2
31 positive regulation of high voltage-gated calcium channel activity GO:1901843 9.62 CACNA2D1 CACNB2
32 calcium ion transmembrane transport via high voltage-gated calcium channel GO:0061577 9.61 CACNA1C CACNA2D1
33 membrane depolarization during atrial cardiac muscle cell action potential GO:0098912 9.61 CACNA1C CACNB2
34 membrane depolarization during bundle of His cell action potential GO:0086048 9.6 CACNA2D1 TRPM4
35 regulation of ion transmembrane transport GO:0034765 9.56 CACNA1C CACNA2D1 CACNB2 KCNE1 KCNE2 KCNH2
36 membrane repolarization during action potential GO:0086011 9.55 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
37 regulation of heart rate by cardiac conduction GO:0086091 9.28 CACNA1C CACNA2D1 CACNB2 KCNE1 KCNE2 KCNH2
38 transmembrane transport GO:0055085 10.03 CACNA1C KCNH2 KCNQ1 SLC4A3 TRPM4

Molecular functions related to Short Qt Syndrome according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 calcium channel activity GO:0005262 9.73 CACNA1C CACNA2D1 CACNB2 TRPM4
2 calmodulin binding GO:0005516 9.72 CACNA1C KCNQ1 TRPM4
3 voltage-gated ion channel activity GO:0005244 9.72 CACNA1C KCNE2 KCNH2 KCNJ2 KCNQ1
4 ion channel activity GO:0005216 9.71 CACNA1C KCNH2 TRPM4
5 potassium channel activity GO:0005267 9.71 KCNE1 KCNE2 KCNH2 KCNQ1
6 ion channel binding GO:0044325 9.7 KCNE1 KCNE2 KCNQ1
7 voltage-gated calcium channel activity GO:0005245 9.67 CACNA1C CACNA2D1 CACNB2
8 voltage-gated potassium channel activity GO:0005249 9.67 KCNE1 KCNE2 KCNH2 KCNQ1
9 inward rectifier potassium channel activity GO:0005242 9.63 KCNE2 KCNH2 KCNJ2
10 potassium channel regulator activity GO:0015459 9.56 KCNE1 KCNE2
11 delayed rectifier potassium channel activity GO:0005251 9.56 KCNE1 KCNE2 KCNH2 KCNQ1
12 high voltage-gated calcium channel activity GO:0008331 9.51 CACNA1C CACNB2
13 voltage-gated calcium channel activity involved in AV node cell action potential GO:0086056 9.48 CACNA1C CACNB2
14 voltage-gated calcium channel activity involved in cardiac muscle cell action potential GO:0086007 9.33 CACNA1C CACNA2D1 CACNB2
15 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.26 KCNE1 KCNE2 KCNH2 KCNQ1
16 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 8.92 KCNE1 KCNH2 KCNJ2 KCNQ1

Sources for Short Qt Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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