SQTS
MCID: SHR030
MIFTS: 47

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 75 25 37 29 6 15 72
Qt Syndrome, Short 40
Sqts 25

Classifications:



External Ids:

Disease Ontology 12 DOID:0050793
KEGG 37 H00725
UMLS 72 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. If untreated, the arrhythmia associated with short QT syndrome can lead to a variety of signs and symptoms, from dizziness and fainting (syncope) to cardiac arrest and sudden death. These signs and symptoms can occur any time from early infancy to old age. This condition may explain some cases of sudden infant death syndrome (SIDS), which is a major cause of unexplained death in babies younger than 1 year. However, some people with short QT syndrome never experience any health problems associated with the condition.

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 Inwardly Rectifying 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.

KEGG : 37
Short QT syndrome (SQTS) is a cardiovascular disorder resulting from mutations in cardiac ion channels. The mutation of genes (KCNH2, KCNQ1, and KCNJ2) encoding for cardiac potassium channels plays a central role in SQTS. SQTS is characterized by constantly short QT interval associated with atrial fibrillation, syncopal episodes, and sudden cardiac death. The implantable cardioverter defibrillator (ICD) therapy in patients with a short QT syndrome has an increased risk due to possible T wave oversensing.

Wikipedia : 75 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 49)
# Related Disease Score Top Affiliating Genes
1 familial short qt syndrome 33.8 KCNQ1 KCNJ2 KCNH2 CACNA2D1
2 cardiac conduction defect 31.7 KCNQ1 KCNH2
3 syncope 31.3 KCNQ1 KCNJ2 KCNH2
4 cardiac arrest 30.7 KCNQ1 KCNH2 CACNB2
5 ventricular fibrillation, paroxysmal familial, 1 30.6 KCNQ1 KCNH2 KCNE1 CACNA1C
6 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 30.3 KCNQ1 KCNJ2 KCNH2
7 atrial fibrillation 30.1 KCNQ1 KCNJ2 KCNH2 KCNE1
8 jervell and lange-nielsen syndrome 1 29.7 KCNQ1 KCNH2 KCNE1 CACNA1C
9 familial atrial fibrillation 29.6 KCNQ1OT1 KCNQ1 KCNJ2 KCNH2 KCNE1
10 andersen cardiodysrhythmic periodic paralysis 29.5 KCNQ1 KCNJ2 KCNH2 KCNE1
11 atrioventricular block 29.3 TRPM4 KCNQ1 KCNH2 KCNE1
12 heart disease 29.2 KCNQ1 KCNJ2 KCNH2 CACNA1C
13 cardiac arrhythmia 29.1 KCNQ1 KCNJ2 KCNH2 KCNE1 CACNA1C
14 hypertrophic cardiomyopathy 28.9 MYPN DES CACNA1C
15 long qt syndrome 1 28.7 KCNQ1OT1 KCNQ1 KCNJ2 KCNH2 KCNE1 CACNA1C
16 brugada syndrome 28.6 TRPM4 KCNQ1 KCNH2 KCNE1 CACNB2 CACNA2D1
17 timothy syndrome 28.5 KCNQ1 KCNH2 KCNE1 CACNB2 CACNA2D1 CACNA1C
18 long qt syndrome 28.5 TRPM4 KCNQ1OT1 KCNQ1 KCNJ2 KCNH2 KCNE1
19 short qt syndrome 2 12.8
20 short qt syndrome 3 12.8
21 short qt syndrome 1 12.8
22 qt interval, variation in 11.2
23 long qt syndrome 13 10.4 KCNQ1 KCNH2
24 neutropenia 10.2
25 sudden infant death syndrome 10.1
26 hypokalemic periodic paralysis, type 1 10.1 KCNJ2 CACNA1C
27 catecholaminergic polymorphic ventricular tachycardia 10.1
28 familial long qt syndrome 10.1
29 long qt syndrome 12 10.1 KCNQ1 KCNH2 KCNE1
30 long qt syndrome 3 10.0 KCNQ1 KCNH2 KCNE1
31 pericarditis 10.0
32 inferior myocardial infarction 10.0
33 right bundle branch block 9.9 TRPM4 CACNB2 CACNA1C
34 long qt syndrome 5 9.9 KCNQ1 KCNJ2 KCNH2 KCNE1
35 long qt syndrome 2 9.9 KCNQ1 KCNJ2 KCNH2 KCNE1
36 heart conduction disease 9.8 KCNQ1 KCNJ2 KCNH2 KCNE1
37 intrinsic cardiomyopathy 9.8 KCNQ1 KCNJ2 KCNH2 KCNE1
38 atrial standstill 1 9.8
39 resting heart rate, variation in 9.8
40 early repolarization associated with ventricular fibrillation 9.8
41 sinoatrial node disease 9.8
42 sick sinus syndrome 9.8
43 ischemia 9.8
44 bidirectional tachycardia 9.8
45 fainting 9.8
46 long qt syndrome 6 9.6 KCNQ1 KCNJ2 KCNH2 KCNE1 CACNA1C
47 myopathy, spheroid body 9.5 MYPN DES
48 familial isolated dilated cardiomyopathy 9.2 MYPN DES
49 dilated cardiomyopathy 8.5 MYPN KCNQ1 KCNH2 DES CACNB2 CACNA1C

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 9.9 CACNA1C CACNA2D1 CACNB2 DES FBXW7 KCNH2
2 homeostasis/metabolism MP:0005376 9.61 CACNA1C CACNB2 DES FBXW7 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, a Multicenter, Observational and Prospective Study 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 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 402)
# Title Authors PMID Year
1
Drug Testing in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes From a Patient With Short QT Syndrome Type 1. 38
30947366 2019
2
Electrical storm in an acquired short QT syndrome successfully treated with quinidine. 38
31428405 2019
3
Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants. 38
31315195 2019
4
Quinidine-A legacy within the modern era of antiarrhythmic therapy. 38
31026503 2019
5
Correction: Atrial arrhythmogenicity of KCNJ2 mutations in short QT syndrome: Insights from virtual human atria. 38
31194727 2019
6
Sex-differences in short QT syndrome: A systematic literature review and pooled analysis. 38
31122038 2019
7
Implantable cardioverter defibrillator replacement guided by T wave safety margin in a short QT syndrome patient. 38
30548872 2019
8
Successful radiofrequency catheter ablation of a premature ventricular contraction triggering ventricular fibrillation in a patient with short QT syndrome. 38
31193207 2019
9
[Research progress in congenital short QT syndrome]. 38
31142090 2019
10
Modeling Reentry in the Short QT Syndrome With Human-Induced Pluripotent Stem Cell-Derived Cardiac Cell Sheets. 38
31072576 2019
11
Characterization and haplotype study of 6 novel STR markers related to the KCNQ1 gene in heterogeneous cardiovascular disorders in the Iranian population 38
30866607 2019
12
Acquired short QT syndrome in a cancer patient treated with Toad. 38
31037741 2019
13
Functional and pharmacological characterization of an S5 domain hERG mutation associated with short QT syndrome. 38
31049424 2019
14
Impaired Adrenergic/Protein Kinase A Response of Slow Delayed Rectifier Potassium Channels as a Long QT Syndrome Motif: Importance and Unknowns. 38
30935642 2019
15
Down the rabbit hole: deciphering the short QT syndrome. 38
30689827 2019
16
Use of topical lidocaine in eliminating mechanically stimulated ventricular fibrillation in a patient with short QT syndrome. 38
30891413 2019
17
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. 38
30496390 2019
18
Long-term follow-up of implantable cardioverter-defibrillators in Short QT syndrome. 38
30879093 2019
19
Sudden cardiac death in football players: Towards a new pre-participation algorithm. 38
30679986 2019
20
Patient-Specific and Gene-Corrected Induced Pluripotent Stem Cell-Derived Cardiomyocytes Elucidate Single-Cell Phenotype of Short QT Syndrome. 38
30582453 2019
21
Electrocardiographic Assessment and Genetic Analysis in Neonates: a Current Topic of Discussion. 38
30210005 2019
22
Impact of Antiarrhythmic Drugs on the Outcome of Short QT Syndrome. 38
31427960 2019
23
Sudden cardiac arrest in patients without overt heart disease: a limited value of next generation sequencing. 38
30403391 2018
24
Sleep Fainting: A Neurocardiogenic Entity. 38
30820371 2018
25
Long-Term Follow-Up of Patients With Short QT Syndrome: Clinical Profile and Outcome. 38
30571592 2018
26
Thoracoscopic Cardiac Sympathetic Denervation: Adjunct Therapy for Secondary Prevention of Life-Threatening Ventricular Arrhythmias in Children. 38
30096007 2018
27
An African loss-of-function CACNA1C variant p.T1787M associated with a risk of ventricular fibrillation. 38
30279520 2018
28
Antiarrhythmic effect of antazoline in experimental models of acquired short- and long-QT-syndromes. 38
29377987 2018
29
[Molecular autopsy in sudden cardiac death]. 38
30030015 2018
30
Sudden cardiac death in J wave syndrome with short QT associated to a novel mutation in Nav 1.8 coding gene SCN10A: First case report for a possible pharmacogenomic role. 38
30177317 2018
31
Action potential clamp characterization of the S631A hERG mutation associated with short QT syndrome. 38
30175559 2018
32
Tentative Screening Criteria for Short QT Interval in Children and Adolescents. 38
30047504 2018
33
Diagnosis and management of short QT syndrome. 38
29501667 2018
34
Broad antiarrhythmic effect of mexiletine in different arrhythmia models. 38
29016765 2018
35
Computational Analysis of the Action of Chloroquine on Short QT Syndrome Variant 1 and Variant 3 in Human Ventricles. 38
30441573 2018
36
Multiple clinical profiles of families with the short QT syndrome. 38
29016797 2018
37
[Recognizing rare cardiac diseases by electrocardiogram]. 38
29619572 2018
38
[Syncopes and channelopathies]. 38
29766267 2018
39
Strong sesquiterpene emissions from Amazonian soils. 38
29884892 2018
40
Drug-induced life-threatening arrhythmias and sudden cardiac death: A clinical perspective of long QT, short QT and Brugada syndromes. 38
29636202 2018
41
Inherited primary arrhythmia disorders: cardiac channelopathies and sports activity. 38
29744527 2018
42
Emerging therapeutic targets in the short QT syndrome. 38
29697308 2018
43
Therapeutic effects of a taurine-magnesium coordination compound on experimental models of type 2 short QT syndrome. 38
29072257 2018
44
Impact of QTc formulae in the prevalence of short corrected QT interval and impact on probability and diagnosis of short QT syndrome. 38
28954836 2018
45
Molecular Insights into the Short QT Syndrome. 38
31355049 2018
46
Modeling Short QT Syndrome Using Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes. 38
29574456 2018
47
Sudden cardiac arrest during marathon training in a young adult with short QT syndrome. 38
29876509 2018
48
Ion Channel Disorders and Sudden Cardiac Death. 38
29495624 2018
49
Postmortem Genetic Testing for Cardiac Ion Channelopathies in Stillbirths. 38
29874177 2018
50
Recent Advances in Short QT Syndrome. 38
30420954 2018

Variations for Short Qt Syndrome

ClinVar genetic disease variations for Short Qt Syndrome:

6 (show top 50) (show all 178)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 KCNQ1 NM_000218.2(KCNQ1): c.919G> C (p.Val307Leu) single nucleotide variant Pathogenic rs120074195 11:2594214-2594214 11:2572984-2572984
2 KCNJ2 NM_000891.2(KCNJ2): c.514G> A (p.Asp172Asn) single nucleotide variant Pathogenic rs104894584 17:68171694-68171694 17:70175553-70175553
3 KCNH2 NM_000238.3(KCNH2): c.1764C> G (p.Asn588Lys) single nucleotide variant Pathogenic rs104894021 7:150648717-150648717 7:150951629-150951629
4 KCNH2 NM_000238.3(KCNH2): c.1764C> A (p.Asn588Lys) single nucleotide variant Pathogenic rs104894021 7:150648717-150648717 7:150951629-150951629
5 KCNJ2 NM_000891.2(KCNJ2): c.-228C> T single nucleotide variant Conflicting interpretations of pathogenicity rs765064661 17:68165831-68165831 17:70169690-70169690
6 KCNQ1 NM_000218.2(KCNQ1): c.1189C> T (p.Arg397Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs199472776 11:2608860-2608860 11:2587630-2587630
7 KCNQ1 NM_000218.2(KCNQ1): c.1179G> T (p.Lys393Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs12720457 11:2608850-2608850 11:2587620-2587620
8 KCNQ1 NM_000218.2(KCNQ1): c.-5T> C single nucleotide variant Conflicting interpretations of pathogenicity rs532941548 11:2466324-2466324 11:2445094-2445094
9 KCNJ2 NM_000891.2(KCNJ2): c.1229A> G (p.Asn410Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs141069645 17:68172409-68172409 17:70176268-70176268
10 KCNQ1 NM_000218.2(KCNQ1): c.1986C> G (p.Tyr662Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs11601907 11:2869188-2869188 11:2847958-2847958
11 KCNQ1 NM_000218.2(KCNQ1): c.1875C> T (p.Pro625=) single nucleotide variant Conflicting interpretations of pathogenicity rs112113213 11:2869077-2869077 11:2847847-2847847
12 KCNQ1 NM_000218.2(KCNQ1): c.1514+3G> A single nucleotide variant Conflicting interpretations of pathogenicity rs374767819 11:2683314-2683314 11:2662084-2662084
13 KCNQ1 NM_000218.2(KCNQ1): c.1514+9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs770840921 11:2683320-2683320 11:2662090-2662090
14 KCNQ1 NM_000218.2(KCNQ1): c.1251+13C> T single nucleotide variant Conflicting interpretations of pathogenicity rs201364493 11:2608935-2608935 11:2587705-2587705
15 KCNQ1 NM_000218.2(KCNQ1): c.387-7C> T single nucleotide variant Conflicting interpretations of pathogenicity rs201682200 11:2549151-2549151 11:2527921-2527921
16 KCNQ1 NM_000218.2(KCNQ1): c.650C> T (p.Ser217Phe) single nucleotide variant Uncertain significance rs886048163 11:2592600-2592600 11:2571370-2571370
17 KCNQ1 NM_000218.2(KCNQ1): c.*633G> A single nucleotide variant Uncertain significance rs886048173 11:2869866-2869866 11:2848636-2848636
18 KCNQ1 NM_000218.2(KCNQ1): c.*652G> A single nucleotide variant Uncertain significance rs886048174 11:2869885-2869885 11:2848655-2848655
19 KCNQ1 NM_000218.2(KCNQ1): c.*1025G> C single nucleotide variant Uncertain significance rs181226788 11:2870258-2870258 11:2849028-2849028
20 KCNJ2 NM_000891.2(KCNJ2): c.-349C> A single nucleotide variant Uncertain significance rs370696463 17:68165710-68165710 17:70169569-70169569
21 KCNJ2 NM_000891.2(KCNJ2): c.-162delinsTCAGAGTAGT indel Uncertain significance rs376713253 17:68171019-68171019 17:70174878-70174878
22 KCNQ1 NM_000218.2(KCNQ1): c.*554T> G single nucleotide variant Uncertain significance rs886048172 11:2869787-2869787 11:2848557-2848557
23 KCNQ1 NM_000218.2(KCNQ1): c.1973C> A (p.Thr658Asn) single nucleotide variant Uncertain significance rs377661455 11:2869175-2869175 11:2847945-2847945
24 KCNQ1 NM_000218.2(KCNQ1): c.*47A> C single nucleotide variant Uncertain significance rs754931159 11:2869280-2869280 11:2848050-2848050
25 KCNQ1 NM_000218.2(KCNQ1): c.*171G> A single nucleotide variant Uncertain significance rs886048168 11:2869404-2869404 11:2848174-2848174
26 KCNJ2 NM_000891.2(KCNJ2): c.119G> A (p.Arg40Gln) single nucleotide variant Uncertain significance rs766143485 17:68171299-68171299 17:70175158-70175158
27 KCNJ2 NM_000891.2(KCNJ2): c.*211T> C single nucleotide variant Uncertain significance rs56194813 17:68172675-68172675 17:70176534-70176534
28 KCNJ2 NM_000891.2(KCNJ2): c.*213G> A single nucleotide variant Uncertain significance rs886053326 17:68172677-68172677 17:70176536-70176536
29 KCNJ2 NM_000891.2(KCNJ2): c.*324del deletion Uncertain significance rs570173316 17:68172788-68172788 17:70176647-70176647
30 KCNJ2 NM_000891.2(KCNJ2): c.*596T> A single nucleotide variant Uncertain significance rs886053328 17:68173060-68173060 17:70176919-70176919
31 KCNJ2 NM_000891.2(KCNJ2): c.*687A> C single nucleotide variant Uncertain significance rs886053329 17:68173151-68173151 17:70177010-70177010
32 KCNJ2 NM_000891.2(KCNJ2): c.*1128dup duplication Uncertain significance rs777658732 17:68173592-68173592 17:70177451-70177451
33 KCNJ2 NM_000891.2(KCNJ2): c.*1702_*1703CT[3] short repeat Uncertain significance rs1555604187 17:68174168-68174169 17:70178027-70178028
34 KCNJ2 NM_000891.2(KCNJ2): c.*2001A> G single nucleotide variant Uncertain significance rs886053336 17:68174465-68174465 17:70178324-70178324
35 KCNJ2 NM_000891.2(KCNJ2): c.*2770_*2775del deletion Uncertain significance rs35656864 17:68175234-68175239 17:70179093-70179098
36 KCNJ2 NM_000891.2(KCNJ2): c.*2875_*2876del deletion Uncertain significance rs561353262 17:68175339-68175340 17:70179198-70179199
37 KCNJ2 NM_000891.2(KCNJ2): c.*3352T> A single nucleotide variant Uncertain significance rs886053345 17:68175816-68175816 17:70179675-70179675
38 KCNJ2 NM_000891.2(KCNJ2): c.*3391_*3392dup duplication Uncertain significance rs552636156 17:68175855-68175856 17:70179714-70179715
39 KCNJ2 NM_000891.2(KCNJ2): c.*3463del deletion Uncertain significance rs3841509 17:68175927-68175927 17:70179786-70179786
40 TRPM4 NM_017636.4(TRPM4): c.678C> G (p.Asp226Glu) single nucleotide variant Uncertain significance rs730880236 19:49671875-49671875 19:49168618-49168618
41 KCNQ1 NM_000218.2(KCNQ1): c.*1088G> C single nucleotide variant Uncertain significance rs886048177 11:2870321-2870321 11:2849091-2849091
42 KCNQ1 NM_000218.2(KCNQ1): c.1979C> A (p.Pro660His) single nucleotide variant Uncertain significance rs886048165 11:2869181-2869181 11:2847951-2847951
43 KCNQ1 NM_000218.2(KCNQ1): c.*392A> C single nucleotide variant Uncertain significance rs868129989 11:2869625-2869625 11:2848395-2848395
44 KCNQ1 NM_000218.2(KCNQ1): c.*398C> T single nucleotide variant Uncertain significance rs886048170 11:2869631-2869631 11:2848401-2848401
45 KCNQ1 NM_000218.2(KCNQ1): c.*292C> A single nucleotide variant Uncertain significance rs886048169 11:2869525-2869525 11:2848295-2848295
46 KCNQ1 NM_000218.2(KCNQ1): c.*539G> C single nucleotide variant Uncertain significance rs886048171 11:2869772-2869772 11:2848542-2848542
47 KCNQ1 NM_000218.2(KCNQ1): c.*581T> C single nucleotide variant Uncertain significance rs765566577 11:2869814-2869814 11:2848584-2848584
48 KCNQ1 NM_000218.2(KCNQ1): c.*712G> A single nucleotide variant Uncertain significance rs745447199 11:2869945-2869945 11:2848715-2848715
49 KCNQ1 NM_000218.2(KCNQ1): c.*877C> G single nucleotide variant Uncertain significance rs763163556 11:2870110-2870110 11:2848880-2848880
50 KCNQ1 NM_000218.2(KCNQ1): c.*887_*889del deletion Uncertain significance rs886048175 11:2870120-2870122 11:2848890-2848892

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 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.76 KCNQ1 KCNJ2 KCNH2 CACNB2 CACNA2D1
2
Show member pathways
12.61 TRPM4 KCNQ1 KCNE1 CACNB2 CACNA2D1 CACNA1C
3
Show member pathways
12.29 KCNQ1 KCNJ2 KCNH2 KCNE1 DES CACNB2
4 12.09 KCNQ1 KCNJ2 KCNH2 KCNE1 CACNB2 CACNA1C
5
Show member pathways
12.07 CACNB2 CACNA2D1 CACNA1C
6
Show member pathways
12 DES CACNB2 CACNA2D1 CACNA1C
7
Show member pathways
11.96 DES CACNB2 CACNA2D1 CACNA1C
8
Show member pathways
11.89 KCNQ1 KCNJ2 KCNH2
9 11.86 CACNB2 CACNA2D1 CACNA1C
10
Show member pathways
11.81 CACNB2 CACNA2D1 CACNA1C
11 11.61 CACNB2 CACNA2D1 CACNA1C
12
Show member pathways
11.43 KCNQ1 KCNE1 CACNB2 CACNA2D1 CACNA1C
13 11.39 KCNQ1 CACNB2 CACNA2D1 CACNA1C
14 11.34 CACNB2 CACNA2D1 CACNA1C
15 11.32 CACNB2 CACNA2D1 CACNA1C
16 11.14 CACNB2 CACNA1C
17 10.86 KCNQ1 KCNJ2 KCNE1
18 10.85 KCNQ1 KCNJ2 KCNH2 KCNE1 CACNB2 CACNA1C

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 sarcolemma GO:0042383 9.54 DES CACNB2 CACNA1C
2 Z disc GO:0030018 9.46 MYPN KCNE1 DES CACNA1C
3 voltage-gated calcium channel complex GO:0005891 9.43 CACNB2 CACNA2D1 CACNA1C
4 T-tubule GO:0030315 9.4 KCNJ2 CACNA2D1
5 voltage-gated potassium channel complex GO:0008076 9.26 KCNQ1 KCNJ2 KCNH2 KCNE1
6 L-type voltage-gated calcium channel complex GO:1990454 8.8 CACNB2 CACNA2D1 CACNA1C
7 plasma membrane GO:0005886 10.06 TRPM4 SLC4A3 MYPN KCNQ1 KCNJ2 KCNH2

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

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 calcium ion transport GO:0006816 9.88 TRPM4 CACNB2 CACNA2D1 CACNA1C
2 potassium ion transport GO:0006813 9.87 KCNQ1 KCNJ2 KCNH2 KCNE1
3 potassium ion transmembrane transport GO:0071805 9.86 KCNQ1 KCNJ2 KCNH2 KCNE1
4 calcium ion transmembrane transport GO:0070588 9.85 TRPM4 CACNB2 CACNA2D1 CACNA1C
5 ion transport GO:0006811 9.81 TRPM4 SLC4A3 KCNQ1 KCNJ2 KCNH2 KCNE1
6 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.73 KCNQ1 KCNH2 KCNE1 CACNA2D1
7 ventricular cardiac muscle cell action potential GO:0086005 9.71 KCNQ1 KCNH2 KCNE1
8 cardiac muscle cell action potential involved in contraction GO:0086002 9.71 KCNJ2 KCNE1 CACNA2D1 CACNA1C
9 potassium ion export across plasma membrane GO:0097623 9.7 KCNQ1 KCNH2 KCNE1
10 regulation of membrane repolarization GO:0060306 9.69 KCNQ1 KCNJ2 KCNH2
11 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.67 KCNQ1 KCNH2 KCNE1
12 positive regulation of potassium ion transmembrane transport GO:1901381 9.67 KCNQ1 KCNJ2 KCNH2 KCNE1
13 cardiac muscle contraction GO:0060048 9.65 KCNQ1 KCNH2
14 regulation of heart contraction GO:0008016 9.65 KCNQ1 DES
15 calcium ion import GO:0070509 9.65 CACNB2 CACNA1C
16 membrane repolarization GO:0086009 9.65 KCNQ1 KCNH2 KCNE1
17 positive regulation of heart rate GO:0010460 9.64 TRPM4 KCNQ1
18 regulation of potassium ion transmembrane transport GO:1901379 9.64 KCNH2 KCNE1
19 calcium ion transport into cytosol GO:0060402 9.63 CACNA2D1 CACNA1C
20 cardiac conduction GO:0061337 9.63 TRPM4 CACNA1C
21 membrane depolarization during AV node cell action potential GO:0086045 9.63 TRPM4 CACNB2 CACNA1C
22 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.62 KCNJ2 CACNA1C
23 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.62 TRPM4 CACNA1C
24 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.62 KCNQ1 KCNJ2 KCNH2 KCNE1
25 positive regulation of high voltage-gated calcium channel activity GO:1901843 9.61 CACNB2 CACNA2D1
26 membrane depolarization during bundle of His cell action potential GO:0086048 9.6 TRPM4 CACNA2D1
27 membrane depolarization during atrial cardiac muscle cell action potential GO:0098912 9.59 CACNB2 CACNA1C
28 calcium ion transmembrane transport via high voltage-gated calcium channel GO:0061577 9.58 CACNA2D1 CACNA1C
29 membrane repolarization during action potential GO:0086011 9.56 KCNQ1 KCNJ2 KCNH2 KCNE1
30 regulation of ion transmembrane transport GO:0034765 9.5 KCNQ1 KCNJ2 KCNH2 KCNE1 CACNB2 CACNA2D1
31 regulation of heart rate by cardiac conduction GO:0086091 9.23 TRPM4 KCNQ1 KCNJ2 KCNH2 KCNE1 CACNB2
32 transmembrane transport GO:0055085 10.01 TRPM4 SLC4A3 KCNQ1 KCNH2 CACNA1C

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.71 TRPM4 KCNQ1 CACNA1C
2 ion channel activity GO:0005216 9.7 TRPM4 KCNH2 CACNA1C
3 potassium channel activity GO:0005267 9.65 KCNQ1 KCNH2 KCNE1
4 voltage-gated potassium channel activity GO:0005249 9.63 KCNQ1 KCNH2 KCNE1
5 voltage-gated ion channel activity GO:0005244 9.62 KCNQ1 KCNJ2 KCNH2 CACNA1C
6 voltage-gated calcium channel activity GO:0005245 9.61 CACNB2 CACNA2D1 CACNA1C
7 calcium channel activity GO:0005262 9.56 TRPM4 CACNB2 CACNA2D1 CACNA1C
8 delayed rectifier potassium channel activity GO:0005251 9.54 KCNQ1 KCNH2 KCNE1
9 inward rectifier potassium channel activity GO:0005242 9.51 KCNJ2 KCNH2
10 high voltage-gated calcium channel activity GO:0008331 9.49 CACNB2 CACNA1C
11 voltage-gated calcium channel activity involved in AV node cell action potential GO:0086056 9.4 CACNB2 CACNA1C
12 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.33 KCNQ1 KCNH2 KCNE1
13 voltage-gated calcium channel activity involved in cardiac muscle cell action potential GO:0086007 9.13 CACNB2 CACNA2D1 CACNA1C
14 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 8.92 KCNQ1 KCNJ2 KCNH2 KCNE1

Sources for Short Qt Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....