SQTS
MCID: SHR030
MIFTS: 48

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 74 25 36 29 6 15 71
Qt Syndrome, Short 39
Sqts 25

Classifications:



External Ids:

Disease Ontology 12 DOID:0050793
KEGG 36 H00725
UMLS 71 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 short qt syndrome 2 and familial short qt syndrome. 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 Cardiac conduction and cGMP-PKG signaling pathway. Affiliated tissues include heart, testes and eye, and related phenotypes are cardiovascular system and muscle

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 : 36 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 : 74 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 top 50) (show all 79)
# Related Disease Score Top Affiliating Genes
1 short qt syndrome 2 35.0 KCNQ1-AS1 KCNQ1
2 familial short qt syndrome 34.4 KCNQ1 KCNJ2 KCNH2 CACNA2D1
3 cardiac conduction defect 31.5 SCN5A RYR2 KCNQ1 KCNH2
4 syncope 31.3 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2
5 ventricular fibrillation, paroxysmal familial, 1 30.9 SCN5A RYR2 KCNQ1 KCNH2 KCNE2 KCNE1
6 sick sinus syndrome 30.4 SCN5A SCN3B KCNJ2 CACNA1C
7 cardiac arrest 30.3 TRPM4 SCN5A RYR2 KCNQ1 KCNH2 CASQ2
8 familial long qt syndrome 30.2 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
9 hypertrophic cardiomyopathy 30.1 SCN5A RYR2 MYPN CACNB2 CACNA1C
10 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 30.1 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 CASQ2
11 sudden infant death syndrome 30.0 SCN5A SCN3B RYR2 KCNQ1 KCNH2 GPD1L
12 atrial fibrillation 29.8 SCN5A SCN3B RYR2 KCNQ1 KCNJ2 KCNH2
13 cardiac arrhythmia 29.5 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 KCNE2
14 atrioventricular block 29.5 TRPM4 SCN5A RYR2 KCNQ1 KCNH2 KCNE2
15 heart disease 29.4 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 KCNE2
16 sinoatrial node disease 29.2 SCN5A SCN3B RYR2 KCNQ1 KCNJ2 KCNH2
17 andersen cardiodysrhythmic periodic paralysis 29.0 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 KCNE3
18 timothy syndrome 29.0 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 KCNE2
19 jervell and lange-nielsen syndrome 1 28.9 SCN5A KCNQ1OT1 KCNQ1-AS1 KCNQ1 KCNJ2 KCNH2
20 long qt syndrome 28.6 TRPM4 SCN5A RYR2 MYPN KCNQ1OT1 KCNQ1-AS1
21 catecholaminergic polymorphic ventricular tachycardia 28.3 TRPM4 SCN5A SCN3B RYR2 KCNQ1 KCNJ2
22 brugada syndrome 28.2 TRPM4 SCN5A SCN3B RYR2 KCNQ1-AS1 KCNQ1
23 familial atrial fibrillation 27.8 TRPM4 SCN5A SCN3B RYR2 KCNQ1OT1 KCNQ1-AS1
24 long qt syndrome 1 27.6 SCN5A SCN3B RYR2 KCNQ1OT1 KCNQ1-AS1 KCNQ1
25 short qt syndrome 3 12.8
26 short qt syndrome 1 12.8
27 qt interval, variation in 11.2
28 atrial fibrillation, familial, 3 10.5 KCNQ1-AS1 KCNQ1
29 periodic paralyses 10.5 KCNJ2 KCNE3
30 brugada syndrome 6 10.4 SCN5A KCNE3
31 leopard syndrome 10.4 KCNQ1 KCNH2 CACNA1C
32 brugada syndrome 3 10.4 KCNE2 CACNA1C
33 progressive familial heart block 10.4 TRPM4 SCN5A KCNQ1
34 arrhythmogenic right ventricular dysplasia, familial, 12 10.4 RYR2 KCNH2 CACNB2
35 progressive familial heart block, type ib 10.3 TRPM4 SCN5A
36 ventricular tachycardia, catecholaminergic polymorphic, 2 10.3 RYR2 CASQ2
37 hyperkalemic periodic paralysis 10.3 SCN5A KCNJ2 KCNE3
38 ventricular tachycardia, catecholaminergic polymorphic, 3 10.3 RYR2 KCNJ2 CASQ2
39 brugada syndrome 1 10.3 SCN5A RYR2 KCNH2
40 long qt syndrome 15 10.3 SCN3B KCNE1
41 brugada syndrome 2 10.3 SCN5A GPD1L
42 second-degree atrioventricular block 10.3 SCN5A SCN3B
43 long qt syndrome 10 10.3 SCN5A KCNQ1 KCNH2 KCNE2
44 wilms tumor predisposition 10.3 KCNQ1OT1 KCNQ1
45 anhidrosis, isolated, with normal sweat glands 10.3 RYR2 CACNA1C
46 neutropenia 10.2
47 long qt syndrome 11 10.2 KCNQ1 KCNJ2 KCNE2 KCNE1 CACNA1C
48 restrictive cardiomyopathy 10.2 TRPM4 MYPN CACNA1C
49 long qt syndrome 12 10.2 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
50 long qt syndrome 13 10.1 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.8 CACNA1C CACNA2D1 CACNB2 CASQ2 KCNE3 KCNH2
2 muscle MP:0005369 9.36 CACNA1C CACNA2D1 CASQ2 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:

40
Heart, Testes, Eye, Skin

Publications for Short Qt Syndrome

Articles related to Short Qt Syndrome:

(show top 50) (show all 411)
# Title Authors PMID Year
1
[Long and short QT syndromes : Emergency treatment and secondary prophylaxis]. 61
32025785 2020
2
Delayed diagnosis of short QT syndrome concealed by pacemaker implant due to sick sinus syndrome. 61
32011326 2020
3
QTc Prolongation and Risk of Torsades de Pointes in Hospitalized Pediatric Oncology Patients. 61
31761428 2019
4
Ventricular Dysrhythmias During Long-Term Follow-Up in Patients With Inherited Cardiac Arrhythmia. 61
31481179 2019
5
Long-term follow-up of implantable cardioverter-defibrillators in Short QT syndrome. 61
30879093 2019
6
Drug Testing in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes From a Patient With Short QT Syndrome Type 1. 61
30947366 2019
7
Estimation of economic weights for number of teats and sperm quality traits in pigs. 61
31515873 2019
8
Molecular Autopsy Implicates Primary Carnitine Deficiency in Sudden Unexplained Death and Reversible Short QT Syndrome. 61
31472821 2019
9
Acquired short QT syndrome in a cancer patient treated with Toad. 61
31037741 2019
10
Electrical storm in an acquired short QT syndrome successfully treated with quinidine. 61
31428405 2019
11
Pharmacotherapeutic Effects of Quinidine on Short QT Syndrome by Using Purkinje-Ventricle Model: A Simulation Study. 61
31946488 2019
12
Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants. 61
31315195 2019
13
Quinidine-A legacy within the modern era of antiarrhythmic therapy. 61
31026503 2019
14
Correction: Atrial arrhythmogenicity of KCNJ2 mutations in short QT syndrome: Insights from virtual human atria. 61
31194727 2019
15
Sex-differences in short QT syndrome: A systematic literature review and pooled analysis. 61
31122038 2019
16
Implantable cardioverter defibrillator replacement guided by T wave safety margin in a short QT syndrome patient. 61
30548872 2019
17
Successful radiofrequency catheter ablation of a premature ventricular contraction triggering ventricular fibrillation in a patient with short QT syndrome. 61
31193207 2019
18
[Research progress in congenital short QT syndrome]. 61
31142090 2019
19
Modeling Reentry in the Short QT Syndrome With Human-Induced Pluripotent Stem Cell-Derived Cardiac Cell Sheets. 61
31072576 2019
20
Characterization and haplotype study of 6 novel STR markers related to the KCNQ1 gene in heterogeneous cardiovascular disorders in the Iranian population 61
30866607 2019
21
Functional and pharmacological characterization of an S5 domain hERG mutation associated with short QT syndrome. 61
31049424 2019
22
Impaired Adrenergic/Protein Kinase A Response of Slow Delayed Rectifier Potassium Channels as a Long QT Syndrome Motif: Importance and Unknowns. 61
30935642 2019
23
Use of topical lidocaine in eliminating mechanically stimulated ventricular fibrillation in a patient with short QT syndrome. 61
30891413 2019
24
Down the rabbit hole: deciphering the short QT syndrome. 61
30689827 2019
25
Transgenic short-QT syndrome 1 rabbits mimic the human disease phenotype with QT/action potential duration shortening in the atria and ventricles and increased ventricular tachycardia/ventricular fibrillation inducibility. 61
30496390 2019
26
Sudden cardiac death in football players: Towards a new pre-participation algorithm. 61
30679986 2019
27
Differences in Short QT Syndrome Subtypes: A Systematic Literature Review and Pooled Analysis. 61
32010184 2019
28
Patient-Specific and Gene-Corrected Induced Pluripotent Stem Cell-Derived Cardiomyocytes Elucidate Single-Cell Phenotype of Short QT Syndrome. 61
30582453 2019
29
Electrocardiographic Assessment and Genetic Analysis in Neonates: a Current Topic of Discussion. 61
30210005 2019
30
An Update on the Structure of hERG. 61
32038248 2019
31
Impact of Antiarrhythmic Drugs on the Outcome of Short QT Syndrome. 61
31427960 2019
32
Sudden cardiac arrest in patients without overt heart disease: a limited value of next generation sequencing. 61
30403391 2018
33
Sleep Fainting: A Neurocardiogenic Entity. 61
30820371 2018
34
Long-Term Follow-Up of Patients With Short QT Syndrome: Clinical Profile and Outcome. 61
30571592 2018
35
Thoracoscopic Cardiac Sympathetic Denervation: Adjunct Therapy for Secondary Prevention of Life-Threatening Ventricular Arrhythmias in Children. 61
30096007 2018
36
Antiarrhythmic effect of antazoline in experimental models of acquired short- and long-QT-syndromes. 61
29377987 2018
37
An African loss-of-function CACNA1C variant p.T1787M associated with a risk of ventricular fibrillation. 61
30279520 2018
38
[Molecular autopsy in sudden cardiac death]. 61
30030015 2018
39
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. 61
30177317 2018
40
Action potential clamp characterization of the S631A hERG mutation associated with short QT syndrome. 61
30175559 2018
41
Tentative Screening Criteria for Short QT Interval in Children and Adolescents. 61
30047504 2018
42
Diagnosis and management of short QT syndrome. 61
29501667 2018
43
Broad antiarrhythmic effect of mexiletine in different arrhythmia models. 61
29016765 2018
44
Computational Analysis of the Action of Chloroquine on Short QT Syndrome Variant 1 and Variant 3 in Human Ventricles. 61
30441573 2018
45
Multiple clinical profiles of families with the short QT syndrome. 61
29016797 2018
46
[Syncopes and channelopathies]. 61
29766267 2018
47
[Recognizing rare cardiac diseases by electrocardiogram]. 61
29619572 2018
48
Strong sesquiterpene emissions from Amazonian soils. 61
29884892 2018
49
Drug-induced life-threatening arrhythmias and sudden cardiac death: A clinical perspective of long QT, short QT and Brugada syndromes. 61
29636202 2018
50
Inherited primary arrhythmia disorders: cardiac channelopathies and sports activity. 61
29744527 2018

Variations for Short Qt Syndrome

ClinVar genetic disease variations for Short Qt Syndrome:

6 (show top 50) (show all 179) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KCNQ1 NM_181798.1(KCNQ1):c.538G>C (p.Val180Leu)SNV Pathogenic 3148 rs120074195 11:2594214-2594214 11:2572984-2572984
2 KCNJ2 NM_000891.2(KCNJ2):c.514G>A (p.Asp172Asn)SNV Pathogenic 8927 rs104894584 17:68171694-68171694 17:70175553-70175553
3 KCNH2 NM_172056.2(KCNH2):c.1764C>G (p.Asn588Lys)SNV Pathogenic 14436 rs104894021 7:150648717-150648717 7:150951629-150951629
4 KCNH2 NM_172056.2(KCNH2):c.1764C>A (p.Asn588Lys)SNV Pathogenic 14437 rs104894021 7:150648717-150648717 7:150951629-150951629
5 KCNJ2 NM_000891.2(KCNJ2):c.1229A>G (p.Asn410Ser)SNV Conflicting interpretations of pathogenicity 190804 rs141069645 17:68172409-68172409 17:70176268-70176268
6 KCNQ1 NM_181798.1(KCNQ1):c.1605C>G (p.Tyr535Ter)SNV Conflicting interpretations of pathogenicity 200864 rs11601907 11:2869188-2869188 11:2847958-2847958
7 KCNQ1 NM_181798.1(KCNQ1):c.808C>T (p.Arg270Trp)SNV Conflicting interpretations of pathogenicity 52970 rs199472776 11:2608860-2608860 11:2587630-2587630
8 KCNQ1 NM_181798.1(KCNQ1):c.798G>T (p.Lys266Asn)SNV Conflicting interpretations of pathogenicity 67020 rs12720457 11:2608850-2608850 11:2587620-2587620
9 KCNQ1 NM_181798.1(KCNQ1):c.-16616T>CSNV Conflicting interpretations of pathogenicity 138009 rs532941548 11:2466324-2466324 11:2445094-2445094
10 KCNQ1 NM_181798.1(KCNQ1):c.1494C>T (p.Pro498=)SNV Conflicting interpretations of pathogenicity 237226 rs112113213 11:2869077-2869077 11:2847847-2847847
11 KCNJ2 NM_000891.2(KCNJ2):c.1259C>T (p.Pro420Leu)SNV Conflicting interpretations of pathogenicity 264482 rs749707062 17:68172439-68172439 17:70176298-70176298
12 KCNQ1 NM_181798.1(KCNQ1):c.1133+3G>ASNV Conflicting interpretations of pathogenicity 304226 rs374767819 11:2683314-2683314 11:2662084-2662084
13 KCNQ1 NM_181798.1(KCNQ1):c.1133+9C>TSNV Conflicting interpretations of pathogenicity 304227 rs770840921 11:2683320-2683320 11:2662090-2662090
14 KCNQ1 NM_181798.1(KCNQ1):c.870+13C>TSNV Conflicting interpretations of pathogenicity 304220 rs201364493 11:2608935-2608935 11:2587705-2587705
15 KCNQ1 NM_181798.1(KCNQ1):c.6-7C>TSNV Conflicting interpretations of pathogenicity 304216 rs201682200 11:2549151-2549151 11:2527921-2527921
16 KCNJ2 NM_000891.2(KCNJ2):c.-228C>TSNV Conflicting interpretations of pathogenicity 324825 rs765064661 17:68165831-68165831 17:70169690-70169690
17 KCNJ2 NM_000891.2(KCNJ2):c.*2698T>CSNV Uncertain significance 324878 rs368668294 17:68175162-68175162 17:70179021-70179021
18 KCNJ2 NM_000891.2(KCNJ2):c.*2754T>CSNV Uncertain significance 324884 rs9915769 17:68175218-68175218 17:70179077-70179077
19 KCNJ2 NM_000891.2(KCNJ2):c.*124G>ASNV Uncertain significance 324835 rs886053325 17:68172588-68172588 17:70176447-70176447
20 KCNJ2 NM_000891.2(KCNJ2):c.*1440A>TSNV Uncertain significance 324858 rs886053332 17:68173904-68173904 17:70177763-70177763
21 KCNJ2 NM_000891.2(KCNJ2):c.*1631C>GSNV Uncertain significance 324860 rs886053333 17:68174095-68174095 17:70177954-70177954
22 KCNJ2 NM_000891.2(KCNJ2):c.*1719_*1721dupduplication Uncertain significance 324867 rs35753731 17:68174168-68174169 17:70178027-70178028
23 KCNJ2 NM_000891.2(KCNJ2):c.*2270G>TSNV Uncertain significance 324872 rs545863243 17:68174734-68174734 17:70178593-70178593
24 KCNJ2 NM_000891.2(KCNJ2):c.*3352T>ASNV Uncertain significance 324892 rs886053345 17:68175816-68175816 17:70179675-70179675
25 KCNJ2 NM_000891.2(KCNJ2):c.*3391_*3392dupduplication Uncertain significance 324894 rs552636156 17:68175852-68175853 17:70179711-70179712
26 KCNJ2 NM_000891.2(KCNJ2):c.*3463deldeletion Uncertain significance 324895 rs3841509 17:68175918-68175918 17:70179777-70179777
27 KCNJ2 NM_000891.2(KCNJ2):c.-258C>TSNV Uncertain significance 324824 rs886053321 17:68165801-68165801 17:70169660-70169660
28 KCNJ2 NM_000891.2(KCNJ2):c.-88C>TSNV Uncertain significance 324828 rs886053322 17:68171093-68171093 17:70174952-70174952
29 KCNJ2 NM_000891.2(KCNJ2):c.*122G>ASNV Uncertain significance 324834 rs886053324 17:68172586-68172586 17:70176445-70176445
30 KCNJ2 NM_000891.2(KCNJ2):c.*1412G>ASNV Uncertain significance 324857 rs886053331 17:68173876-68173876 17:70177735-70177735
31 KCNJ2 NM_000891.2(KCNJ2):c.*1702_*1704dupduplication Uncertain significance 324862 rs1555604193 17:68174165-68174166 17:70178024-70178025
32 KCNJ2 NM_000891.2(KCNJ2):c.*1720_*1721dupduplication Uncertain significance 324866 rs35753731 17:68174168-68174169 17:70178027-70178028
33 KCNJ2 NM_000891.2(KCNJ2):c.*1721dupduplication Uncertain significance 324865 rs35753731 17:68174168-68174169 17:70178027-70178028
34 KCNQ1 NM_181798.1(KCNQ1):c.269C>T (p.Ser90Phe)SNV Uncertain significance 304217 rs886048163 11:2592600-2592600 11:2571370-2571370
35 KCNQ1 NM_181798.1(KCNQ1):c.*633G>ASNV Uncertain significance 304254 rs886048173 11:2869866-2869866 11:2848636-2848636
36 KCNQ1 NM_181798.1(KCNQ1):c.*652G>ASNV Uncertain significance 304255 rs886048174 11:2869885-2869885 11:2848655-2848655
37 KCNQ1 NM_181798.1(KCNQ1):c.1592C>A (p.Thr531Asn)SNV Uncertain significance 304230 rs377661455 11:2869175-2869175 11:2847945-2847945
38 KCNQ1 NM_181798.1(KCNQ1):c.*47A>CSNV Uncertain significance 304233 rs754931159 11:2869280-2869280 11:2848050-2848050
39 KCNQ1 NM_181798.1(KCNQ1):c.*171G>ASNV Uncertain significance 304235 rs886048168 11:2869404-2869404 11:2848174-2848174
40 KCNQ1 NM_181798.1(KCNQ1):c.*1088G>CSNV Uncertain significance 304272 rs886048177 11:2870321-2870321 11:2849091-2849091
41 KCNQ1 NM_181798.1(KCNQ1):c.1413+12C>TSNV Uncertain significance 304229 rs727505084 11:2799279-2799279 11:2778049-2778049
42 KCNQ1 NM_181798.1(KCNQ1):c.*160C>ASNV Uncertain significance 304234 rs886048167 11:2869393-2869393 11:2848163-2848163
43 KCNQ1 NM_181798.1(KCNQ1):c.*391G>ASNV Uncertain significance 304244 rs774059974 11:2869624-2869624 11:2848394-2848394
44 KCNQ1 NM_181798.1(KCNQ1):c.*554T>GSNV Uncertain significance 304252 rs886048172 11:2869787-2869787 11:2848557-2848557
45 KCNQ1 NM_181798.1(KCNQ1):c.*1025G>CSNV Uncertain significance 304270 rs181226788 11:2870258-2870258 11:2849028-2849028
46 KCNJ2 NM_000891.2(KCNJ2):c.-349C>ASNV Uncertain significance 324822 rs370696463 17:68165710-68165710 17:70169569-70169569
47 KCNJ2 NM_000891.2(KCNJ2):c.-162delinsTCAGAGTAGTindel Uncertain significance 324827 rs376713253 17:68171019-68171019 17:70174878-70174878
48 KCNJ2 NM_000891.2(KCNJ2):c.119G>A (p.Arg40Gln)SNV Uncertain significance 324830 rs766143485 17:68171299-68171299 17:70175158-70175158
49 KCNJ2 NM_000891.2(KCNJ2):c.*211T>CSNV Uncertain significance 324837 rs56194813 17:68172675-68172675 17:70176534-70176534
50 KCNJ2 NM_000891.2(KCNJ2):c.*213G>ASNV Uncertain significance 324838 rs886053326 17:68172677-68172677 17:70176536-70176536

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 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.5 SCN5A SCN3B RYR2 KCNQ1 KCNJ2 KCNH2
2
Show member pathways
12.41 SCN5A RYR2 KCNQ1 KCNE1 CACNB2 CACNA2D1
3
Show member pathways
12.35 RYR2 KCNJ2 CACNB2 CACNA2D1 CACNA1C
4 12.21 KCNQ1 KCNJ2 KCNH2 KCNE3 KCNE2 KCNE1
5
Show member pathways
12.11 RYR2 CACNB2 CACNA2D1 CACNA1C
6
Show member pathways
12.01 RYR2 CACNB2 CACNA2D1 CACNA1C
7 12.01 SCN5A SCN3B RYR2 KCNQ1 KCNH2 GPD1L
8 11.96 RYR2 CACNB2 CACNA2D1 CACNA1C
9
Show member pathways
11.84 CACNB2 CACNA2D1 CACNA1C
10 11.74 RYR2 CASQ2 CACNB2 CACNA2D1 CACNA1C
11
Show member pathways
11.73 SCN5A SCN3B KCNQ1 KCNE5 KCNE3 KCNE2
12 11.52 KCNQ1 CACNB2 CACNA2D1 CACNA1C
13 11.42 RYR2 CACNB2 CACNA2D1 CACNA1C
14 11.18 SCN5A SCN3B RYR2 KCNQ1 KCNJ2 KCNH2
15 10.93 KCNQ1 KCNJ2 KCNE1

GO Terms for Short Qt Syndrome

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.36 TRPM4 SLC4A3 SCN5A SCN3B RYR2 KCNQ1
2 integral component of membrane GO:0016021 10.28 TRPM4 SLC4A3 SCN5A SCN3B RYR2 KCNQ1
3 plasma membrane GO:0005886 10.09 TRPM4 SLC4A3 SCN5A SCN3B RYR2 MYPN
4 cell GO:0005623 10.04 TRPM4 SLC4A3 RYR2 KCNJ2 CASQ2 CACNA2D1
5 sarcolemma GO:0042383 9.67 SCN5A RYR2 CACNB2 CACNA1C
6 sarcoplasmic reticulum GO:0016529 9.65 RYR2 CASQ2 CACNA2D1
7 voltage-gated calcium channel complex GO:0005891 9.58 CACNB2 CACNA2D1 CACNA1C
8 T-tubule GO:0030315 9.56 SCN5A KCNJ2 CACNA2D1 CACNA1C
9 voltage-gated sodium channel complex GO:0001518 9.52 SCN5A SCN3B
10 junctional sarcoplasmic reticulum membrane GO:0014701 9.51 RYR2 CASQ2
11 L-type voltage-gated calcium channel complex GO:1990454 9.5 CACNB2 CACNA2D1 CACNA1C
12 Z disc GO:0030018 9.5 SCN5A SCN3B RYR2 MYPN KCNE1 CASQ2
13 voltage-gated potassium channel complex GO:0008076 9.17 KCNQ1 KCNJ2 KCNH2 KCNE5 KCNE3 KCNE2

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

(show top 50) (show all 57)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 10.21 TRPM4 SLC4A3 SCN5A RYR2 KCNQ1 KCNH2
2 potassium ion transport GO:0006813 10.08 KCNQ1 KCNJ2 KCNH2 KCNE3 KCNE2 KCNE1
3 potassium ion transmembrane transport GO:0071805 10.07 KCNQ1 KCNJ2 KCNH2 KCNE3 KCNE2 KCNE1
4 calcium ion transport GO:0006816 10.05 TRPM4 RYR2 CACNB2 CACNA2D1 CACNA1C
5 cardiac muscle contraction GO:0060048 10.05 SCN5A SCN3B RYR2 KCNQ1 KCNH2 KCNE5
6 calcium ion transmembrane transport GO:0070588 10.04 TRPM4 RYR2 CACNB2 CACNA2D1 CACNA1C
7 ion transmembrane transport GO:0034220 10.02 TRPM4 SCN5A RYR2 CASQ2
8 ventricular cardiac muscle cell action potential GO:0086005 10.02 SCN5A SCN3B RYR2 KCNQ1 KCNH2 KCNE5
9 cardiac conduction GO:0061337 10 TRPM4 SCN5A SCN3B KCNQ1 KCNJ2 KCNH2
10 membrane repolarization during action potential GO:0086011 9.98 KCNQ1 KCNJ2 KCNH2 KCNE5 KCNE3 KCNE2
11 potassium ion export across plasma membrane GO:0097623 9.97 KCNQ1 KCNH2 KCNE5 KCNE3 KCNE2 KCNE1
12 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.97 SCN5A KCNQ1 KCNH2 KCNE5 KCNE3 KCNE2
13 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.95 KCNQ1 KCNH2 KCNE5 KCNE3 KCNE2 KCNE1
14 cardiac muscle cell action potential involved in contraction GO:0086002 9.95 SCN5A SCN3B KCNJ2 KCNE2 KCNE1 CACNA2D1
15 regulation of heart rate GO:0002027 9.94 SCN5A RYR2 GPD1L CASQ2
16 positive regulation of heart rate GO:0010460 9.93 TRPM4 SCN3B RYR2 KCNQ1
17 positive regulation of potassium ion transmembrane transport GO:1901381 9.93 KCNQ1 KCNJ2 KCNH2 KCNE5 KCNE1
18 regulation of membrane repolarization GO:0060306 9.93 KCNQ1 KCNJ2 KCNH2 KCNE5 KCNE2 CASQ2
19 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.92 KCNQ1 KCNJ2 KCNH2 KCNE5 KCNE1
20 regulation of potassium ion transmembrane transport GO:1901379 9.91 KCNH2 KCNE5 KCNE2 KCNE1
21 regulation of ion transmembrane transport GO:0034765 9.9 SCN5A SCN3B KCNQ1 KCNJ2 KCNH2 KCNE3
22 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.88 KCNE5 KCNE3 KCNE2 KCNE1
23 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.88 SCN5A SCN3B KCNJ2 CACNA1C
24 cellular response to drug GO:0035690 9.87 KCNQ1 KCNH2 KCNE2
25 membrane repolarization GO:0086009 9.87 KCNQ1 KCNH2 KCNE2 KCNE1
26 potassium ion import across plasma membrane GO:1990573 9.86 KCNJ2 KCNH2 KCNE2
27 atrial cardiac muscle cell action potential GO:0086014 9.86 SCN5A SCN3B KCNQ1 KCNE5
28 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.85 RYR2 CASQ2 CACNA1C
29 membrane depolarization during AV node cell action potential GO:0086045 9.85 TRPM4 SCN5A CACNB2 CACNA1C
30 membrane depolarization during action potential GO:0086010 9.84 SCN5A SCN3B KCNH2
31 positive regulation of sodium ion transport GO:0010765 9.84 SCN5A SCN3B GPD1L
32 calcium ion transport into cytosol GO:0060402 9.83 RYR2 CACNA2D1 CACNA1C
33 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.83 TRPM4 RYR2 CACNA1C
34 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.82 SCN5A SCN3B GPD1L
35 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.81 SCN5A KCNQ1 KCNE5
36 negative regulation of potassium ion export across plasma membrane GO:1903765 9.8 KCNH2 KCNE5 KCNE3
37 membrane depolarization during atrial cardiac muscle cell action potential GO:0098912 9.79 SCN5A CACNB2 CACNA1C
38 membrane depolarization during bundle of His cell action potential GO:0086048 9.79 TRPM4 SCN5A CACNA2D1
39 regulation of heart rate by cardiac conduction GO:0086091 9.77 TRPM4 SCN5A SCN3B KCNQ1 KCNJ2 KCNH2
40 membrane depolarization GO:0051899 9.72 SCN5A SCN3B
41 regulation of sodium ion transmembrane transporter activity GO:2000649 9.72 SCN3B GPD1L
42 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.72 RYR2 CACNA1C
43 regulation of cardiac muscle cell contraction GO:0086004 9.71 SCN5A KCNJ2
44 cellular response to epinephrine stimulus GO:0071872 9.71 RYR2 KCNQ1
45 detection of calcium ion GO:0005513 9.71 RYR2 CASQ2
46 negative regulation of potassium ion transmembrane transport GO:1901380 9.71 KCNH2 KCNE5
47 cellular response to caffeine GO:0071313 9.71 RYR2 CASQ2
48 positive regulation of voltage-gated calcium channel activity GO:1901387 9.7 KCNE3 KCNE2
49 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.7 SCN5A SCN3B
50 regulation of delayed rectifier potassium channel activity GO:1902259 9.7 KCNE2 KCNE1

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.91 TRPM4 SCN5A RYR2 KCNQ1 CACNA1C
2 ion channel activity GO:0005216 9.89 TRPM4 SCN5A RYR2 KCNH2 CACNA1C
3 voltage-gated ion channel activity GO:0005244 9.87 SCN5A SCN3B KCNQ1 KCNJ2 KCNH2 KCNE2
4 calcium channel activity GO:0005262 9.85 TRPM4 RYR2 CACNB2 CACNA2D1 CACNA1C
5 voltage-gated potassium channel activity GO:0005249 9.85 KCNQ1 KCNH2 KCNE5 KCNE3 KCNE2 KCNE1
6 potassium channel activity GO:0005267 9.83 KCNQ1 KCNH2 KCNE3 KCNE2 KCNE1
7 potassium channel regulator activity GO:0015459 9.78 KCNE5 KCNE3 KCNE2 KCNE1
8 scaffold protein binding GO:0097110 9.74 SCN5A KCNQ1 KCNH2
9 delayed rectifier potassium channel activity GO:0005251 9.73 KCNQ1 KCNH2 KCNE5 KCNE3 KCNE2 KCNE1
10 voltage-gated calcium channel activity GO:0005245 9.72 CACNB2 CACNA2D1 CACNA1C
11 inward rectifier potassium channel activity GO:0005242 9.7 KCNJ2 KCNH2 KCNE2
12 protein kinase A regulatory subunit binding GO:0034237 9.59 RYR2 KCNQ1
13 protein kinase A catalytic subunit binding GO:0034236 9.58 RYR2 KCNQ1
14 high voltage-gated calcium channel activity GO:0008331 9.58 CACNB2 CACNA1C
15 voltage-gated calcium channel activity involved in cardiac muscle cell action potential GO:0086007 9.58 CACNB2 CACNA2D1 CACNA1C
16 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.56 SCN5A SCN3B
17 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.55 KCNQ1 KCNJ2 KCNH2 KCNE5 KCNE1
18 voltage-gated calcium channel activity involved in AV node cell action potential GO:0086056 9.54 CACNB2 CACNA1C
19 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.43 KCNQ1 KCNH2 KCNE5 KCNE3 KCNE2 KCNE1
20 ion channel binding GO:0044325 9.28 SCN5A SCN3B RYR2 KCNQ1 KCNE5 KCNE3

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
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45 MGI
48 NCI
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50 NDF-RT
53 NINDS
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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