MCID: SHR030
MIFTS: 43

Short Qt Syndrome

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Endocrine diseases, Fetal diseases, Oral 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 and testes, 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 genetic disease of the electrical system of the heart. It consists of a... 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 40)
# Related Disease Score Top Affiliating Genes
1 familial short qt syndrome 33.2 CACNA2D1 KCNH2 KCNJ2 KCNQ1
2 cardiac conduction defect 30.4 KCNH2 KCNQ1
3 syncope 30.0 KCNH2 KCNJ2 KCNQ1
4 atrial fibrillation 28.3 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
5 heart disease 28.1 KCNE2 KCNH2 KCNJ2 KCNQ1
6 ventricular fibrillation, paroxysmal familial, 1 28.0 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1
7 jervell and lange-nielsen syndrome 1 27.7 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1
8 long qt syndrome 26.6 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
9 brugada syndrome 26.2 CACNA1C CACNA2D1 CACNB2 KCNE1 KCNE2 KCNH2
10 short qt syndrome 2 12.5
11 short qt syndrome 3 12.5
12 short qt syndrome 1 12.4
13 qt interval, variation in 10.9
14 long qt syndrome 13 10.5 KCNH2 KCNQ1
15 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 10.3 KCNH2 KCNJ2 KCNQ1
16 heart conduction disease 10.2 KCNH2 KCNJ2 KCNQ1
17 hypokalemic periodic paralysis, type 1 10.1 CACNA1C KCNJ2
18 depression 10.1
19 right bundle branch block 9.9 CACNA1C CACNB2 TRPM4
20 sudden infant death syndrome 9.7
21 aging 9.7
22 cardiac arrest 9.7
23 catecholaminergic polymorphic ventricular tachycardia 9.7
24 hypertrophic cardiomyopathy 9.7
25 myopathy, spheroid body 9.7 DES MYPN
26 left ventricular noncompaction 9.4 DES KCNQ1 MYPN
27 andersen cardiodysrhythmic periodic paralysis 9.4 KCNE2 KCNH2 KCNJ2 KCNQ1
28 familial isolated dilated cardiomyopathy 9.2 DES MYPN
29 long qt syndrome 12 9.1 KCNE1 KCNE2 KCNH2 KCNQ1
30 long qt syndrome 3 9.1 KCNE1 KCNE2 KCNH2 KCNQ1
31 timothy syndrome 9.0 CACNA1C CACNA2D1 CACNB2 KCNE1 KCNH2 KCNQ1
32 long qt syndrome 5 8.9 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
33 long qt syndrome 2 8.9 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
34 intrinsic cardiomyopathy 8.9 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
35 dilated cardiomyopathy 8.8 CACNA1C DES KCNH2 KCNQ1 MYPN
36 atrioventricular block 8.7 KCNE1 KCNE2 KCNH2 KCNQ1 TRPM4
37 familial atrial fibrillation 8.5 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 KCNQ1OT1
38 long qt syndrome 6 8.5 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
39 cardiac arrhythmia 8.5 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
40 long qt syndrome 1 8.1 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1

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 CACNA2D1 CACNB2 DES KCNH2 KCNJ2 KCNQ1
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

Publications for Short Qt Syndrome

Articles related to Short Qt Syndrome:

(show top 50) (show all 159)
# 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
The Phenotypic Spectrum of a MutationA Hotspot Responsible for theA Short QT Syndrome. ( 29759541 )
2017
6
Multiple clinical profiles of families with the short QT syndrome. ( 29016797 )
2017
7
Effects of island-distribution of mid-cardiomyocytes on ventricular electrical excitation associated with the KCNQ1-linked short QT syndrome. ( 29060698 )
2017
8
The Pharmacogenomics of a Mutation 'Hotspot' for the Short QT Syndrome. ( 28966985 )
2017
9
Antiarrhythmic properties of ivabradine in an experimental model of Short-QT- Syndrome. ( 28556923 )
2017
10
In silico assessment of the effects of quinidine, disopyramide and E-4031 on short QT syndrome variant 1 in the human ventricles. ( 28632743 )
2017
11
Short QT Syndrome and Hydroquinidine: Rare Diseases and Unavailable Drugs. ( 29241490 )
2017
12
In silico investigation of a KCNQ1 mutation associated with short QT syndrome. ( 28814790 )
2017
13
Effects of amiodarone on short QT syndrome variant 3 in human ventricles: a simulation study. ( 28592292 )
2017
14
Modelling the effects of quinidine, disopyramide, and E-4031 on short QT syndrome variant 3 in the human ventricles. ( 28812984 )
2017
15
Modelling the effects of chloroquine on<i>KCNJ2</i>-linked short QT syndrome. ( 29290967 )
2017
16
Atrial arrhythmogenicity of KCNJ2 mutations in short QT syndrome: Insights from virtual human atria. ( 28609477 )
2017
17
Short QT syndrome in pediatrics. ( 28303324 )
2017
18
Modeling the effects of amiodarone on short QT syndrome variant 2 in the human ventricles. ( 29060841 )
2017
19
Computational Analysis of the Mode of Action of Disopyramide and Quinidine on hERG-Linked Short QT Syndrome in Human Ventricles. ( 29085299 )
2017
20
Therapeutic effects of a taurine-magnesium coordination compound on experimental models of type 2 short QT syndrome. ( 29072257 )
2017
21
Pro-arrhythmogenic Effects of the V141M KCNQ1 Mutation in Short QT Syndrome and Its Potential Therapeutic Targets: Insights from Modeling. ( 29213224 )
2017
22
Could ivabradine be a new treatment for the short QT syndrome? ( 28640933 )
2017
23
Loss-of-activity-mutation in the cardiac chloride-bicarbonate exchanger AE3 causes short QT syndrome. ( 29167417 )
2017
24
Shortening of the Short Refractory Periods in Short QT Syndrome. ( 28566296 )
2017
25
The new kids on the block of arrhythmogenic disorders: Short QT syndrome and early repolarization. ( 28569435 )
2017
26
Impact of QTc formulae in the prevalence of short corrected QT interval and impact on probability and diagnosis of short QT syndrome. ( 28954836 )
2017
27
Short QT syndrome and ventricular tachycardia. ( 28165781 )
2017
28
Novel trigenic CACNA1C/DES/MYPN mutations in a family of hypertrophic cardiomyopathy with early repolarization and short QT syndrome. ( 28427417 )
2017
29
Bystander Cardio Pulmonary Resuscitation Saves Life in a Patient with Short QT Syndrome. ( 27771688 )
2016
30
Ranolazine and Vernakalant Prevent Ventricular Arrhythmias in an Experimental Whole-Heart Model of Short QT Syndrome. ( 27283775 )
2016
31
Use of a subcutaneous ICD in a patient with short QT syndrome. ( 26783432 )
2016
32
Considering Ranolazine as a Potential Treatment for K(+) Channel Linked Short QT Syndrome. ( 27477620 )
2016
33
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
34
Considering Ranolazine as a Potential Treatment for K(+) Channel Linked Short QT Syndrome. ( 27477827 )
2016
35
Genotype-dependent differences in age of manifestation and arrhythmia complications in short QT syndrome. ( 25974115 )
2015
36
Computational analysis of the electromechanical consequences of short QT syndrome. ( 25717305 )
2015
37
Short QT syndrome in a 14-year-old patient: The first pediatric case from Turkey. ( 26139173 )
2015
38
A new KCNQ1 mutation at the S5 segment that impairs its association with KCNE1 is responsible for short QT syndrome. ( 26168993 )
2015
39
Characterization of a Chinese KCNQ1 mutation (R259H) that shortens repolarization and causes short QT syndrome 2. ( 26346102 )
2015
40
To the Editor--Altered in vivo systolic function in the short QT syndrome anticipated in silico. ( 26142296 )
2015
41
Carnitine deficiency induces a short QT syndrome. ( 26190315 )
2015
42
Usefulness of exercise test in the diagnosis of short QT syndrome. ( 25833882 )
2015
43
New echocardiographic insights in short QT syndrome: More than a channelopathy? ( 26001507 )
2015
44
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 )
2015
45
Short QT Syndrome in Current Clinical Practice. ( 26440650 )
2015
46
Reply to the Editor--Altered in vivo systolic function in the short QT syndrome anticipated in silico. ( 26142294 )
2015
47
Short QT syndrome in a boy diagnosed on screening for heart disease. ( 25335996 )
2014
48
PQ segment depression in patients with short QT syndrome: a novel marker for diagnosing short QT syndrome? ( 24589867 )
2014
49
Short QT syndrome presenting as syncope: how short is too short? ( 25442000 )
2014
50
Short QT Syndrome - Review of Diagnosis and Treatment. ( 26835070 )
2014

Variations for Short Qt Syndrome

ClinVar genetic disease variations for Short Qt Syndrome:

6
(show top 50) (show all 302)
# 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 KCNQ1 NM_000218.2(KCNQ1): c.435C> T (p.Ile145=) single nucleotide variant Benign/Likely benign rs1800170 GRCh37 Chromosome 11, 2549206: 2549206
10 KCNQ1 NM_000218.2(KCNQ1): c.435C> T (p.Ile145=) single nucleotide variant Benign/Likely benign rs1800170 GRCh38 Chromosome 11, 2527976: 2527976
11 KCNQ1 NM_000218.2(KCNQ1): c.513C> T (p.Tyr171=) single nucleotide variant Benign/Likely benign rs139042529 GRCh37 Chromosome 11, 2591893: 2591893
12 KCNQ1 NM_000218.2(KCNQ1): c.513C> T (p.Tyr171=) single nucleotide variant Benign/Likely benign rs139042529 GRCh38 Chromosome 11, 2570663: 2570663
13 KCNQ1 NM_000218.2(KCNQ1): c.477+9C> T single nucleotide variant Benign/Likely benign rs28730664 GRCh37 Chromosome 11, 2549257: 2549257
14 KCNQ1 NM_000218.2(KCNQ1): c.477+9C> T single nucleotide variant Benign/Likely benign rs28730664 GRCh38 Chromosome 11, 2528027: 2528027
15 TRPM4 NM_017636.3(TRPM4): c.678C> G (p.Asp226Glu) single nucleotide variant Uncertain significance rs730880236 GRCh38 Chromosome 19, 49168618: 49168618
16 TRPM4 NM_017636.3(TRPM4): c.678C> G (p.Asp226Glu) single nucleotide variant Uncertain significance rs730880236 GRCh37 Chromosome 19, 49671875: 49671875
17 KCNJ2 NM_000891.2(KCNJ2): c.1229A> G (p.Asn410Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs141069645 GRCh37 Chromosome 17, 68172409: 68172409
18 KCNJ2 NM_000891.2(KCNJ2): c.1229A> G (p.Asn410Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs141069645 GRCh38 Chromosome 17, 70176268: 70176268
19 KCNQ1 NM_000218.2(KCNQ1): c.1110G> A (p.Ala370=) single nucleotide variant Benign/Likely benign rs1805118 GRCh38 Chromosome 11, 2585289: 2585289
20 KCNQ1 NM_000218.2(KCNQ1): c.1110G> A (p.Ala370=) single nucleotide variant Benign/Likely benign rs1805118 GRCh37 Chromosome 11, 2606519: 2606519
21 KCNQ1 NM_000218.2(KCNQ1): c.1986C> G (p.Tyr662Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs11601907 GRCh37 Chromosome 11, 2869188: 2869188
22 KCNQ1 NM_000218.2(KCNQ1): c.1986C> G (p.Tyr662Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs11601907 GRCh38 Chromosome 11, 2847958: 2847958
23 KCNQ1 NM_000218.2(KCNQ1): c.1875C> T (p.Pro625=) single nucleotide variant Conflicting interpretations of pathogenicity rs112113213 GRCh38 Chromosome 11, 2847847: 2847847
24 KCNQ1 NM_000218.2(KCNQ1): c.1875C> T (p.Pro625=) single nucleotide variant Conflicting interpretations of pathogenicity rs112113213 GRCh37 Chromosome 11, 2869077: 2869077
25 KCNJ2 NM_000891.2(KCNJ2): c.1259C> T (p.Pro420Leu) single nucleotide variant Uncertain significance rs749707062 GRCh38 Chromosome 17, 70176298: 70176298
26 KCNJ2 NM_000891.2(KCNJ2): c.1259C> T (p.Pro420Leu) single nucleotide variant Uncertain significance rs749707062 GRCh37 Chromosome 17, 68172439: 68172439
27 KCNQ1 NM_000218.2(KCNQ1): c.-38C> T single nucleotide variant Uncertain significance rs886048160 GRCh37 Chromosome 11, 2466291: 2466291
28 KCNQ1 NM_000218.2(KCNQ1): c.-38C> T single nucleotide variant Uncertain significance rs886048160 GRCh38 Chromosome 11, 2445061: 2445061
29 KCNQ1 NM_000218.2(KCNQ1): c.1514+3G> A single nucleotide variant Uncertain significance rs374767819 GRCh37 Chromosome 11, 2683314: 2683314
30 KCNQ1 NM_000218.2(KCNQ1): c.1514+3G> A single nucleotide variant Uncertain significance rs374767819 GRCh38 Chromosome 11, 2662084: 2662084
31 KCNQ1 NM_000218.2(KCNQ1): c.1514+9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs770840921 GRCh37 Chromosome 11, 2683320: 2683320
32 KCNQ1 NM_000218.2(KCNQ1): c.1514+9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs770840921 GRCh38 Chromosome 11, 2662090: 2662090
33 KCNQ1 NM_000218.2(KCNQ1): c.1514+4974G> A single nucleotide variant Likely benign rs188083723 GRCh37 Chromosome 11, 2688285: 2688285
34 KCNQ1 NM_000218.2(KCNQ1): c.1514+4974G> A single nucleotide variant Likely benign rs188083723 GRCh38 Chromosome 11, 2667055: 2667055
35 KCNQ1 NM_000218.2(KCNQ1): c.*26C> A single nucleotide variant Uncertain significance rs886048166 GRCh38 Chromosome 11, 2848029: 2848029
36 KCNQ1 NM_000218.2(KCNQ1): c.*26C> A single nucleotide variant Uncertain significance rs886048166 GRCh37 Chromosome 11, 2869259: 2869259
37 KCNQ1 NM_000218.2(KCNQ1): c.*241G> A single nucleotide variant Likely benign rs142023323 GRCh38 Chromosome 11, 2848244: 2848244
38 KCNQ1 NM_000218.2(KCNQ1): c.*241G> A single nucleotide variant Likely benign rs142023323 GRCh37 Chromosome 11, 2869474: 2869474
39 KCNQ1 NM_000218.2(KCNQ1): c.*292C> A single nucleotide variant Uncertain significance rs886048169 GRCh38 Chromosome 11, 2848295: 2848295
40 KCNQ1 NM_000218.2(KCNQ1): c.*292C> A single nucleotide variant Uncertain significance rs886048169 GRCh37 Chromosome 11, 2869525: 2869525
41 KCNQ1 NM_000218.2(KCNQ1): c.*377delG deletion Likely benign rs762386874 GRCh38 Chromosome 11, 2848380: 2848380
42 KCNQ1 NM_000218.2(KCNQ1): c.*377delG deletion Likely benign rs762386874 GRCh37 Chromosome 11, 2869610: 2869610
43 KCNQ1 NM_000218.2(KCNQ1): c.*392A> C single nucleotide variant Uncertain significance rs868129989 GRCh37 Chromosome 11, 2869625: 2869625
44 KCNQ1 NM_000218.2(KCNQ1): c.*392A> C single nucleotide variant Uncertain significance rs868129989 GRCh38 Chromosome 11, 2848395: 2848395
45 KCNQ1 NM_000218.2(KCNQ1): c.*398C> T single nucleotide variant Uncertain significance rs886048170 GRCh37 Chromosome 11, 2869631: 2869631
46 KCNQ1 NM_000218.2(KCNQ1): c.*398C> T single nucleotide variant Uncertain significance rs886048170 GRCh38 Chromosome 11, 2848401: 2848401
47 KCNQ1 NM_000218.2(KCNQ1): c.*411C> T single nucleotide variant Likely benign rs45460605 GRCh37 Chromosome 11, 2869644: 2869644
48 KCNQ1 NM_000218.2(KCNQ1): c.*411C> T single nucleotide variant Likely benign rs45460605 GRCh38 Chromosome 11, 2848414: 2848414
49 KCNQ1 NM_000218.2(KCNQ1): c.*464G> A single nucleotide variant Likely benign rs141960532 GRCh37 Chromosome 11, 2869697: 2869697
50 KCNQ1 NM_000218.2(KCNQ1): c.*464G> A single nucleotide variant Likely benign rs141960532 GRCh38 Chromosome 11, 2848467: 2848467

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 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.76 CACNA2D1 CACNB2 KCNH2 KCNJ2 KCNQ1
2
Show member pathways
12.74 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
11.97 CACNA1C CACNA2D1 CACNB2 DES
9
Show member pathways
11.96 KCNE2 KCNJ2 KCNQ1
10
Show member pathways
11.89 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 11.32 CACNA1C CACNA2D1 CACNB2
17 11.15 CACNA1C CACNB2
18 10.92 CACNA1C CACNB2 KCNE1 KCNE2 KCNH2 KCNJ2
19 10.82 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 Z disc GO:0030018 9.46 CACNA1C DES KCNE1 MYPN
2 voltage-gated calcium channel complex GO:0005891 9.43 CACNA1C CACNA2D1 CACNB2
3 T-tubule GO:0030315 9.4 CACNA2D1 KCNJ2
4 L-type voltage-gated calcium channel complex GO:1990454 9.13 CACNA1C CACNA2D1 CACNB2
5 voltage-gated potassium channel complex GO:0008076 9.02 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
6 membrane GO:0016020 10.11 CACNA1C CACNA2D1 CACNB2 DES KCNE1 KCNE2
7 plasma membrane GO:0005886 10.06 CACNA1C CACNA2D1 CACNB2 DES KCNE1 KCNE2

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

(show all 37)
# 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 calcium ion transport GO:0006816 9.89 CACNA1C CACNA2D1 CACNB2 TRPM4
4 calcium ion transmembrane transport GO:0070588 9.88 CACNA1C CACNA2D1 CACNB2 TRPM4
5 regulation of ion transmembrane transport GO:0034765 9.86 CACNA1C CACNA2D1 CACNB2 KCNE1 KCNE2 KCNH2
6 positive regulation of potassium ion transmembrane transport GO:1901381 9.84 KCNE1 KCNH2 KCNJ2 KCNQ1
7 ventricular cardiac muscle cell action potential GO:0086005 9.83 KCNE1 KCNE2 KCNH2 KCNQ1
8 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.83 CACNA2D1 KCNE1 KCNE2 KCNH2 KCNQ1
9 membrane repolarization GO:0086009 9.81 KCNE1 KCNE2 KCNH2 KCNQ1
10 cellular response to drug GO:0035690 9.8 KCNE2 KCNH2 KCNQ1
11 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.8 KCNE1 KCNH2 KCNJ2 KCNQ1
12 cardiac muscle cell action potential involved in contraction GO:0086002 9.8 CACNA1C CACNA2D1 KCNE1 KCNE2 KCNJ2
13 potassium ion export GO:0071435 9.78 KCNE1 KCNE2 KCNH2 KCNQ1
14 regulation of membrane repolarization GO:0060306 9.77 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
15 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.76 KCNE1 KCNE2 KCNH2 KCNQ1
16 regulation of potassium ion transmembrane transport GO:1901379 9.75 KCNE1 KCNE2 KCNH2
17 membrane depolarization during AV node cell action potential GO:0086045 9.72 CACNA1C CACNB2 TRPM4
18 potassium ion import GO:0010107 9.67 KCNE2 KCNJ2
19 regulation of heart contraction GO:0008016 9.67 DES KCNQ1
20 membrane depolarization during action potential GO:0086010 9.67 CACNA1C KCNH2
21 calcium ion import GO:0070509 9.66 CACNA1C CACNB2
22 positive regulation of heart rate GO:0010460 9.66 KCNQ1 TRPM4
23 calcium ion transport into cytosol GO:0060402 9.65 CACNA1C CACNA2D1
24 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.65 CACNA1C KCNJ2
25 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.65 CACNA1C TRPM4
26 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.64 KCNE1 KCNE2
27 regulation of delayed rectifier potassium channel activity GO:1902259 9.63 KCNE1 KCNE2
28 potassium ion export across plasma membrane GO:0097623 9.62 KCNH2 KCNQ1
29 positive regulation of high voltage-gated calcium channel activity GO:1901843 9.62 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 9.61 CACNA1C CACNB2
32 regulation of heart rate by cardiac conduction GO:0086091 9.61 CACNA1C CACNA2D1 CACNB2 KCNE1 KCNE2 KCNH2
33 membrane depolarization during bundle of His cell action potential GO:0086048 9.6 CACNA2D1 TRPM4
34 membrane repolarization during action potential GO:0086011 9.55 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
35 cardiac conduction GO:0061337 9.28 CACNA1C CACNA2D1 CACNB2 KCNE1 KCNE2 KCNH2
36 transmembrane transport GO:0055085 10.04 CACNA1C KCNH2 KCNQ1 SLC4A3 TRPM4
37 ion transport GO:0006811 10.02 CACNA1C CACNA2D1 CACNB2 KCNE1 KCNE2 KCNH2

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 calcium channel activity GO:0005262 9.76 CACNA1C CACNA2D1 CACNB2 TRPM4
2 voltage-gated ion channel activity GO:0005244 9.72 CACNA1C KCNE2 KCNH2 KCNJ2 KCNQ1
3 calmodulin binding GO:0005516 9.71 CACNA1C KCNQ1 TRPM4
4 potassium channel activity GO:0005267 9.71 KCNE1 KCNE2 KCNH2 KCNQ1
5 ion channel activity GO:0005216 9.7 CACNA1C KCNH2 TRPM4
6 voltage-gated calcium channel activity GO:0005245 9.67 CACNA1C CACNA2D1 CACNB2
7 voltage-gated potassium channel activity GO:0005249 9.67 KCNE1 KCNE2 KCNH2 KCNQ1
8 inward rectifier potassium channel activity GO:0005242 9.61 KCNE2 KCNH2 KCNJ2
9 delayed rectifier potassium channel activity GO:0005251 9.56 KCNE1 KCNE2 KCNH2 KCNQ1
10 potassium channel regulator activity GO:0015459 9.55 KCNE1 KCNE2
11 high voltage-gated calcium channel activity GO:0008331 9.51 CACNA1C CACNB2
12 voltage-gated calcium channel activity involved in AV node cell action potential GO:0086056 9.48 CACNA1C CACNB2
13 voltage-gated calcium channel activity involved in cardiac muscle cell action potential GO:0086007 9.33 CACNA1C CACNA2D1 CACNB2
14 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.26 KCNE1 KCNE2 KCNH2 KCNQ1
15 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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