MCID: SHR030
MIFTS: 44

Short Qt Syndrome

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 77 26 38 30 6 15 74
Qt Syndrome, Short 41
Sqts 26

Classifications:



External Ids:

Disease Ontology 12 DOID:0050793
KEGG 38 H00725
UMLS 74 C2348199

Summaries for Short Qt Syndrome

Genetics Home Reference : 26 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 : 77 Short QT syndrome (SQT) 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 41)
# Related Disease Score Top Affiliating Genes
1 familial short qt syndrome 33.5 CACNA2D1 KCNH2 KCNJ2 KCNQ1
2 cardiac conduction defect 30.3 KCNH2 KCNQ1
3 syncope 29.9 KCNH2 KCNJ2 KCNQ1
4 cardiac arrest 29.8 CACNB2 KCNH2 KCNQ1
5 atrial fibrillation 29.8 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
6 ventricular fibrillation, paroxysmal familial, 1 29.5 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1
7 hypertrophic cardiomyopathy 29.2 CACNA1C DES MYPN
8 heart disease 29.1 CACNA1C KCNE2 KCNH2 KCNJ2 KCNQ1
9 jervell and lange-nielsen syndrome 1 29.1 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1
10 brugada syndrome 28.5 CACNA1C CACNA2D1 CACNB2 KCNE1 KCNE2 KCNH2
11 long qt syndrome 28.5 CACNA1C CACNB2 KCNE1 KCNE2 KCNH2 KCNJ2
12 short qt syndrome 2 12.7
13 short qt syndrome 3 12.7
14 short qt syndrome 1 12.7
15 qt interval, variation in 11.1
16 long qt syndrome 13 10.2 KCNH2 KCNQ1
17 depression 10.2
18 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 10.1 KCNH2 KCNJ2 KCNQ1
19 benign neonatal seizures 10.1 KCNE2 KCNQ1
20 catecholaminergic polymorphic ventricular tachycardia 10.1
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 sudden infant death syndrome 9.8
25 sick sinus syndrome 9.8
26 ischemia 9.8
27 long qt syndrome 12 9.7 KCNE1 KCNE2 KCNH2 KCNQ1
28 long qt syndrome 3 9.7 KCNE1 KCNE2 KCNH2 KCNQ1
29 myopathy, spheroid body 9.7 DES MYPN
30 long qt syndrome 5 9.6 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
31 andersen cardiodysrhythmic periodic paralysis 9.6 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
32 long qt syndrome 2 9.6 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
33 intrinsic cardiomyopathy 9.6 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
34 atrioventricular block 9.5 KCNE1 KCNE2 KCNH2 KCNQ1 TRPM4
35 familial isolated dilated cardiomyopathy 9.5 DES MYPN
36 timothy syndrome 9.5 CACNA1C CACNA2D1 CACNB2 KCNE1 KCNH2 KCNQ1
37 familial atrial fibrillation 9.5 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 KCNQ1OT1
38 long qt syndrome 6 9.4 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
39 cardiac arrhythmia 9.4 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
40 long qt syndrome 1 9.3 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
41 dilated cardiomyopathy 9.1 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:

47
# 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
2 China Inherited Ventricular Arrhythmias Registry Recruiting NCT03880708

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 30

Anatomical Context for Short Qt Syndrome

MalaCards organs/tissues related to Short Qt Syndrome:

42
Heart, Testes, Skin, Eye

Publications for Short Qt Syndrome

Articles related to Short Qt Syndrome:

(show top 50) (show all 179)
# 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
Down the rabbit hole: deciphering the short QT syndrome. ( 30689827 )
2019
3
Long-term follow-up of implantable cardioverter-defibrillators in Short QT syndrome. ( 30879093 )
2019
4
Use of topical lidocaine in eliminating mechanically stimulated ventricular fibrillation in a patient with short QT syndrome. ( 30891413 )
2019
5
Drug Testing in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes From a Patient With Short QT Syndrome Type 1. ( 30947366 )
2019
6
Acquired short QT syndrome in a cancer patient treated with BufonisVenenum. ( 31037741 )
2019
7
Functional and pharmacological characterization of an S5 domain hERG mutation associated with short QT syndrome. ( 31049424 )
2019
8
Modeling Reentry in the Short QT Syndrome With Human-Induced Pluripotent Stem Cell-Derived Cardiac Cell Sheets. ( 31072576 )
2019
9
Sudden cardiac arrest during marathon training in a young adult with short QT syndrome. ( 29876509 )
2018
10
Impact of QTc formulae in the prevalence of short corrected QT interval and impact on probability and diagnosis of short QT syndrome. ( 28954836 )
2018
11
Multiple clinical profiles of families with the short QT syndrome. ( 29016797 )
2018
12
Therapeutic effects of a taurine-magnesium coordination compound on experimental models of type 2 short QT syndrome. ( 29072257 )
2018
13
Diagnosis and management of short QT syndrome. ( 29501667 )
2018
14
Modeling Short QT Syndrome Using Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes. ( 29574456 )
2018
15
Emerging therapeutic targets in the short QT syndrome. ( 29697308 )
2018
16
Action potential clamp characterization of the S631A hERG mutation associated with short QT syndrome. ( 30175559 )
2018
17
Human Atrial Arrhythmogenesis and Sinus Bradycardia in KCNQ1-Linked Short QT Syndrome: Insights From Computational Modelling. ( 30337886 )
2018
18
Recent Advances in Short QT Syndrome. ( 30420954 )
2018
19
Computational Analysis of the Action of Chloroquine on Short QT Syndrome Variant 1 and Variant 3 in Human Ventricles. ( 30441573 )
2018
20
Implantable Cardioverter Defibrillator replacement guided by T wave safety margin in a short QT syndrome patient. ( 30548872 )
2018
21
Long-Term Follow-Up of Patients With Short QT Syndrome: Clinical Profile and Outcome. ( 30571592 )
2018
22
Patient-Specific and Gene-Corrected Induced Pluripotent Stem Cell-Derived Cardiomyocytes Elucidate Single-Cell Phenotype of Short QT Syndrome. ( 30582453 )
2018
23
In silico Assessment of Pharmacotherapy for Human Atrial Patho-Electrophysiology Associated With hERG-Linked Short QT Syndrome. ( 30687112 )
2018
24
Novel trigenic CACNA1C/DES/MYPN mutations in a family of hypertrophic cardiomyopathy with early repolarization and short QT syndrome. ( 28427417 )
2017
25
Erratum to: Novel trigenic CACNA1C/DES/MYPN mutations in a family of hypertrophic cardiomyopathy with early repolarization and short QT syndrome. ( 28490369 )
2017
26
Short QT syndrome and ventricular tachycardia. ( 28165781 )
2017
27
Short QT syndrome in pediatrics. ( 28303324 )
2017
28
Antiarrhythmic properties of ivabradine in an experimental model of Short-QT- Syndrome. ( 28556923 )
2017
29
Shortening of the Short Refractory Periods in Short QT Syndrome. ( 28566296 )
2017
30
The new kids on the block of arrhythmogenic disorders: Short QT syndrome and early repolarization. ( 28569435 )
2017
31
Effects of amiodarone on short QT syndrome variant 3 in human ventricles: a simulation study. ( 28592292 )
2017
32
Atrial arrhythmogenicity of KCNJ2 mutations in short QT syndrome: Insights from virtual human atria. ( 28609477 )
2017
33
In silico assessment of the effects of quinidine, disopyramide and E-4031 on short QT syndrome variant 1 in the human ventricles. ( 28632743 )
2017
34
Could ivabradine be a new treatment for the short QT syndrome? ( 28640933 )
2017
35
Modelling the effects of quinidine, disopyramide, and E-4031 on short QT syndrome variant 3 in the human ventricles. ( 28812984 )
2017
36
In silico investigation of a KCNQ1 mutation associated with short QT syndrome. ( 28814790 )
2017
37
The Pharmacogenomics of a Mutation 'Hotspot' for the Short QT Syndrome. ( 28966985 )
2017
38
Effects of island-distribution of mid-cardiomyocytes on ventricular electrical excitation associated with the KCNQ1-linked short QT syndrome. ( 29060698 )
2017
39
Modeling the effects of amiodarone on short QT syndrome variant 2 in the human ventricles. ( 29060841 )
2017
40
Computational Analysis of the Mode of Action of Disopyramide and Quinidine on hERG-Linked Short QT Syndrome in Human Ventricles. ( 29085299 )
2017
41
Loss-of-activity-mutation in the cardiac chloride-bicarbonate exchanger AE3 causes short QT syndrome. ( 29167417 )
2017
42
Pro-arrhythmogenic Effects of the V141M KCNQ1 Mutation in Short QT Syndrome and Its Potential Therapeutic Targets: Insights from Modeling. ( 29213224 )
2017
43
Hydroquinidine Prevents Life-Threatening Arrhythmic Events in Patients With Short QT Syndrome. ( 29241489 )
2017
44
Short QT Syndrome and Hydroquinidine: Rare Diseases and Unavailable Drugs. ( 29241490 )
2017
45
Modelling the effects of chloroquine on KCNJ2-linked short QT syndrome. ( 29290967 )
2017
46
The Phenotypic Spectrum of a Mutation Hotspot Responsible for the Short QT Syndrome. ( 29759541 )
2017
47
Carnitine deficiency induces a short QT syndrome. ( 26190315 )
2016
48
Sinus bradycardia, junctional rhythm, and low-rate atrial fibrillation in Short QT syndrome during 20 years of follow-up: three faces of the same genetic problem. ( 26279191 )
2016
49
Short QT Syndrome in Current Clinical Practice. ( 26440650 )
2016
50
Use of a subcutaneous ICD in a patient with short QT syndrome. ( 26783432 )
2016

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
12.71 CACNA1C CACNA2D1 CACNB2 KCNE1 KCNQ1 TRPM4
3
Show member pathways
12.5 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
11.98 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 36)
# Name GO ID Score Top Affiliating Genes
1 potassium ion transport GO:0006813 9.96 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
2 ion transport GO:0006811 9.96 CACNA1C CACNA2D1 CACNB2 KCNE1 KCNE2 KCNH2
3 potassium ion transmembrane transport GO:0071805 9.95 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
4 calcium ion transport GO:0006816 9.88 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 9.83 KCNE1 KCNE2 KCNH2 KCNQ1
7 positive regulation of potassium ion transmembrane transport GO:1901381 9.81 KCNE1 KCNH2 KCNJ2 KCNQ1
8 potassium ion export across plasma membrane GO:0097623 9.8 KCNE1 KCNE2 KCNH2 KCNQ1
9 cellular response to drug GO:0035690 9.79 KCNE2 KCNH2 KCNQ1
10 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.78 KCNE1 KCNE2 KCNH2 KCNQ1
11 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.77 CACNA2D1 KCNE1 KCNE2 KCNH2 KCNQ1
12 regulation of membrane repolarization GO:0060306 9.76 KCNE2 KCNH2 KCNJ2 KCNQ1
13 regulation of potassium ion transmembrane transport GO:1901379 9.74 KCNE1 KCNE2 KCNH2
14 membrane repolarization GO:0086009 9.73 KCNE1 KCNE2 KCNH2 KCNQ1
15 cardiac muscle cell action potential involved in contraction GO:0086002 9.72 CACNA1C CACNA2D1 KCNE1 KCNE2 KCNJ2
16 membrane depolarization during AV node cell action potential GO:0086045 9.71 CACNA1C CACNB2 TRPM4
17 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.71 KCNE1 KCNH2 KCNJ2 KCNQ1
18 cardiac muscle contraction GO:0060048 9.67 KCNH2 KCNQ1
19 potassium ion import across plasma membrane GO:1990573 9.67 KCNE2 KCNJ2
20 regulation of heart contraction GO:0008016 9.66 DES KCNQ1
21 calcium ion import GO:0070509 9.66 CACNA1C CACNB2
22 positive regulation of heart rate GO:0010460 9.65 KCNQ1 TRPM4
23 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.65 KCNE1 KCNE2
24 calcium ion transport into cytosol GO:0060402 9.65 CACNA1C CACNA2D1
25 cardiac conduction GO:0061337 9.64 CACNA1C TRPM4
26 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.64 CACNA1C KCNJ2
27 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.63 CACNA1C TRPM4
28 regulation of delayed rectifier potassium channel activity GO:1902259 9.62 KCNE1 KCNE2
29 positive regulation of high voltage-gated calcium channel activity GO:1901843 9.61 CACNA2D1 CACNB2
30 calcium ion transmembrane transport via high voltage-gated calcium channel GO:0061577 9.61 CACNA1C CACNA2D1
31 membrane depolarization during atrial cardiac muscle cell action potential GO:0098912 9.6 CACNA1C CACNB2
32 membrane depolarization during bundle of His cell action potential GO:0086048 9.59 CACNA2D1 TRPM4
33 regulation of ion transmembrane transport GO:0034765 9.56 CACNA1C CACNA2D1 CACNB2 KCNE1 KCNE2 KCNH2
34 membrane repolarization during action potential GO:0086011 9.55 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
35 regulation of heart rate by cardiac conduction GO:0086091 9.28 CACNA1C CACNA2D1 CACNB2 KCNE1 KCNE2 KCNH2
36 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 9.76 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 9.61 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....