SQTS
MCID: SHR030
MIFTS: 46

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 Circadian entrainment and Cardiac conduction. 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 : 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 89)
# Related Disease Score Top Affiliating Genes
1 short qt syndrome 2 34.9 KCNQ1OT1 KCNQ1-AS1 KCNQ1
2 familial short qt syndrome 34.4 KCNQ1 KCNJ2 KCNH2 CACNA2D1
3 cardiac conduction defect 31.6 SCN5A RYR2 KCNQ1 KCNH2
4 syncope 31.4 SCN5A RYR2 KCNQ1 KCNH2
5 ventricular fibrillation, paroxysmal familial, 1 30.9 SCN5A RYR2 KCNQ1 KCNH2 KCNE2 KCNE1
6 sudden infant death syndrome 30.3 SCN5A SCN3B RYR2 KCNQ1 KCNH2
7 sick sinus syndrome 30.2 SCN5A SCN3B KCNQ1 KCNJ2 CACNA1C
8 familial long qt syndrome 30.2 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
9 cardiac arrest 30.2 TRPM4 SCN5A RYR2 NOS1AP KCNQ1 KCNH2
10 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 30.1 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 CASQ2
11 atrial fibrillation 29.8 SCN5A SCN3B RYR2 KCNQ1 KCNJ2 KCNH2
12 cardiac arrhythmia 29.8 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 KCNE2
13 atrioventricular block 29.5 TRPM4 SCN5A RYR2 KCNQ1 KCNH2 KCNE2
14 sinoatrial node disease 29.5 SCN5A SCN3B RYR2 KCNQ1 KCNJ2 KCNH2
15 heart disease 29.3 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 KCNE2
16 andersen cardiodysrhythmic periodic paralysis 29.1 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 KCNE3
17 timothy syndrome 29.0 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 KCNE2
18 jervell and lange-nielsen syndrome 1 29.0 SCN5A KCNQ1OT1 KCNQ1-AS1 KCNQ1 KCNJ2 KCNH2
19 hypertrophic cardiomyopathy 28.9 TRPM4 SCN5A RYR2 MYPN KCNQ1 KCNJ2
20 long qt syndrome 28.8 TRPM4 SCN5A RYR2 NOS1AP MYPN KCNQ1OT1
21 catecholaminergic polymorphic ventricular tachycardia 28.4 TRPM4 SCN5A SCN3B RYR2 NOS1AP KCNQ1
22 brugada syndrome 28.3 TRPM4 SCN5A SCN3B RYR2 NOS1AP KCNQ1-AS1
23 familial atrial fibrillation 28.2 TRPM4 SCN5A SCN3B RYR2 KCNQ1OT1 KCNQ1-AS1
24 long qt syndrome 1 27.7 SCN5A SCN3B RYR2 NOS1AP KCNQ1OT1 KCNQ1-AS1
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 KCNQ1OT1 KCNQ1-AS1 KCNQ1
29 periodic paralyses 10.4 KCNJ2 KCNE3
30 long qt syndrome 15 10.4 KCNJ2 KCNE1 CACNA1C
31 epileptic encephalopathy, early infantile, 14 10.4 SCN5A KCNQ1 KCNH2
32 third-degree atrioventricular block 10.4 SCN5A KCNJ2 KCNH2
33 brugada syndrome 3 10.4 KCNE2 CACNA1C
34 arrhythmogenic right ventricular dysplasia, familial, 12 10.4 RYR2 KCNH2 CACNB2
35 first-degree atrioventricular block 10.4 SCN5A KCNJ2
36 chromosome 2q35 duplication syndrome 10.4 KCNQ1 KCNJ2 CACNA1C
37 brugada syndrome 6 10.4 SCN5A KCNE3
38 ventricular tachycardia, catecholaminergic polymorphic, 3 10.4 RYR2 KCNJ2 CASQ2
39 ventricular tachycardia, catecholaminergic polymorphic, 2 10.3 RYR2 CASQ2
40 brugada syndrome 1 10.3 SCN5A RYR2 KCNH2
41 progressive familial heart block 10.3 TRPM4 SCN5A KCNQ1 KCNH2
42 hyperkalemic periodic paralysis 10.3 SCN5A KCNJ2 KCNE3
43 paramyotonia congenita of von eulenburg 10.3 SCN5A KCNJ2 KCNE3
44 anhidrosis, isolated, with normal sweat glands 10.3 RYR2 CACNA1C
45 wilms tumor predisposition 10.3 KCNQ1OT1 KCNQ1
46 isolated elevated serum creatine phosphokinase levels 10.3 SCN5A RYR2 CACNA1C
47 second-degree atrioventricular block 10.3 SCN5A SCN3B
48 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.3 SCN5A KCNQ1 KCNH2 CACNA1C
49 neuromuscular junction disease 10.3 SCN5A RYR2 KCNH2 CACNA1C
50 familial periodic paralysis 10.3 SCN5A KCNJ2 KCNE3 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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10 CACNA1C CACNA2D1 CACNB2 CASQ2 KCNE3 KCNH2
2 homeostasis/metabolism MP:0005376 9.73 CACNA1C CACNA2D1 CACNB2 CASQ2 KCNE2 KCNE3
3 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

Publications for Short Qt Syndrome

Articles related to Short Qt Syndrome:

(show top 50) (show all 417)
# Title Authors PMID Year
1
The hERG channel activator, RPR260243, enhances protective IKr current in early refractory reducing arrhythmogenicity in zebrafish hearts. 61
32559136 2020
2
Aborted cardiac arrest during sport activity in a teenager diagnosed with short QT syndrome. 61
32372732 2020
3
Inherited primary arrhythmia disorders: cardiac channelopathies and sports activity. 61
29744527 2020
4
Balance Between Rapid Delayed Rectifier K+ Current and Late Na+ Current on Ventricular Repolarization: An Effective Antiarrhythmic Target? 61
32202931 2020
5
SARS-CoV-2, COVID-19, and inherited arrhythmia syndromes. 61
32244059 2020
6
[Long and short QT syndromes : Emergency treatment and secondary prophylaxis]. 61
32025785 2020
7
Estimation of economic weights for number of teats and sperm quality traits in pigs. 61
31515873 2020
8
QTc Prolongation and Risk of Torsades de Pointes in Hospitalized Pediatric Oncology Patients. 61
31761428 2020
9
Delayed diagnosis of short QT syndrome concealed by pacemaker implant due to sick sinus syndrome. 61
32011326 2020
10
Computational Study to Identify the Effects of the KCNJ2 E299V Mutation in Cardiac Pumping Capacity. 61
32328155 2020
11
Ventricular Dysrhythmias During Long-Term Follow-Up in Patients With Inherited Cardiac Arrhythmia. 61
31481179 2019
12
Long-term follow-up of implantable cardioverter-defibrillators in Short QT syndrome. 61
30879093 2019
13
Implantable Cardioverter-defibrillator Therapy for Syncope: An Educational Example of a Multicomponent Electrocardiographic Differential Diagnosis and the Application of Clinical Trial Data to an Individual Patient. 61
32477705 2019
14
Molecular Autopsy Implicates Primary Carnitine Deficiency in Sudden Unexplained Death and Reversible Short QT Syndrome. 61
31472821 2019
15
Acquired short QT syndrome in a cancer patient treated with Toad. 61
31037741 2019
16
Drug Testing in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes From a Patient With Short QT Syndrome Type 1. 61
30947366 2019
17
Electrical storm in an acquired short QT syndrome successfully treated with quinidine. 61
31428405 2019
18
Pharmacotherapeutic Effects of Quinidine on Short QT Syndrome by Using Purkinje-Ventricle Model: A Simulation Study. 61
31946488 2019
19
Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants. 61
31315195 2019
20
Quinidine-A legacy within the modern era of antiarrhythmic therapy. 61
31026503 2019
21
Correction: Atrial arrhythmogenicity of KCNJ2 mutations in short QT syndrome: Insights from virtual human atria. 61
31194727 2019
22
Sex-differences in short QT syndrome: A systematic literature review and pooled analysis. 61
31122038 2019
23
Implantable cardioverter defibrillator replacement guided by T wave safety margin in a short QT syndrome patient. 61
30548872 2019
24
Successful radiofrequency catheter ablation of a premature ventricular contraction triggering ventricular fibrillation in a patient with short QT syndrome. 61
31193207 2019
25
[Research progress in congenital short QT syndrome]. 61
31142090 2019
26
Modeling Reentry in the Short QT Syndrome With Human-Induced Pluripotent Stem Cell-Derived Cardiac Cell Sheets. 61
31072576 2019
27
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
28
Functional and pharmacological characterization of an S5 domain hERG mutation associated with short QT syndrome. 61
31049424 2019
29
Impaired Adrenergic/Protein Kinase A Response of Slow Delayed Rectifier Potassium Channels as a Long QT Syndrome Motif: Importance and Unknowns. 61
30935642 2019
30
Down the rabbit hole: deciphering the short QT syndrome. 61
30689827 2019
31
Use of topical lidocaine in eliminating mechanically stimulated ventricular fibrillation in a patient with short QT syndrome. 61
30891413 2019
32
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
33
Sudden cardiac death in football players: Towards a new pre-participation algorithm. 61
30679986 2019
34
Differences in Short QT Syndrome Subtypes: A Systematic Literature Review and Pooled Analysis. 61
32010184 2019
35
Patient-Specific and Gene-Corrected Induced Pluripotent Stem Cell-Derived Cardiomyocytes Elucidate Single-Cell Phenotype of Short QT Syndrome. 61
30582453 2019
36
Electrocardiographic Assessment and Genetic Analysis in Neonates: a Current Topic of Discussion. 61
30210005 2019
37
Impact of Antiarrhythmic Drugs on the Outcome of Short QT Syndrome. 61
31427960 2019
38
An Update on the Structure of hERG. 61
32038248 2019
39
Sleep Fainting: A Neurocardiogenic Entity. 61
30820371 2018
40
Sudden cardiac arrest in patients without overt heart disease: a limited value of next generation sequencing. 61
30403391 2018
41
Long-Term Follow-Up of Patients With Short QT Syndrome: Clinical Profile and Outcome. 61
30571592 2018
42
Thoracoscopic Cardiac Sympathetic Denervation: Adjunct Therapy for Secondary Prevention of Life-Threatening Ventricular Arrhythmias in Children. 61
30096007 2018
43
Antiarrhythmic effect of antazoline in experimental models of acquired short- and long-QT-syndromes. 61
29377987 2018
44
An African loss-of-function CACNA1C variant p.T1787M associated with a risk of ventricular fibrillation. 61
30279520 2018
45
[Molecular autopsy in sudden cardiac death]. 61
30030015 2018
46
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
47
Tentative Screening Criteria for Short QT Interval in Children and Adolescents. 61
30047504 2018
48
Action potential clamp characterization of the S631A hERG mutation associated with short QT syndrome. 61
30175559 2018
49
Diagnosis and management of short QT syndrome. 61
29501667 2018
50
Broad antiarrhythmic effect of mexiletine in different arrhythmia models. 61
29016765 2018

Variations for Short Qt Syndrome

ClinVar genetic disease variations for Short Qt Syndrome:

6 (show top 50) (show all 61) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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 KCNQ1 NM_181798.1(KCNQ1):c.808C>T (p.Arg270Trp)SNV Conflicting interpretations of pathogenicity 52970 rs199472776 11:2608860-2608860 11:2587630-2587630
6 KCNJ2 NM_000891.2(KCNJ2):c.1259C>T (p.Pro420Leu)SNV Conflicting interpretations of pathogenicity 264482 rs749707062 17:68172439-68172439 17:70176298-70176298
7 KCNQ1 NM_181798.1(KCNQ1):c.1133+3G>ASNV Conflicting interpretations of pathogenicity 304226 rs374767819 11:2683314-2683314 11:2662084-2662084
8 KCNQ1 NM_181798.1(KCNQ1):c.870+13C>TSNV Conflicting interpretations of pathogenicity 304220 rs201364493 11:2608935-2608935 11:2587705-2587705
9 KCNQ1 NM_181798.1(KCNQ1):c.*292C>ASNV Uncertain significance 304240 rs886048169 11:2869525-2869525 11:2848295-2848295
10 CACNA2D1 NM_000722.4(CACNA2D1):c.2721A>G (p.Ala907=)SNV Uncertain significance 637981 7:81593529-81593529 7:81964213-81964213
11 KCNQ1 NM_181798.1(KCNQ1):c.*398C>TSNV Uncertain significance 304246 rs886048170 11:2869631-2869631 11:2848401-2848401
12 KCNQ1 NM_181798.1(KCNQ1):c.*897G>TSNV Uncertain significance 304266 rs561861522 11:2870130-2870130 11:2848900-2848900
13 KCNQ1 NM_000218.2(KCNQ1):c.29C>A (p.Ala10Asp)SNV Uncertain significance 304214 rs886048161 11:2466357-2466357 11:2445127-2445127
14 KCNQ1 NM_000218.2(KCNQ1):c.66C>T (p.Gly22=)SNV Uncertain significance 304215 rs886048162 11:2466394-2466394 11:2445164-2445164
15 KCNQ1 NM_181798.1(KCNQ1):c.400-6G>TSNV Uncertain significance 304218 rs886048164 11:2594070-2594070 11:2572840-2572840
16 KCNQ1 NM_181798.1(KCNQ1):c.*160C>ASNV Uncertain significance 304234 rs886048167 11:2869393-2869393 11:2848163-2848163
17 KCNQ1 NM_181798.1(KCNQ1):c.*554T>GSNV Uncertain significance 304252 rs886048172 11:2869787-2869787 11:2848557-2848557
18 KCNQ1 NM_181798.1(KCNQ1):c.269C>T (p.Ser90Phe)SNV Uncertain significance 304217 rs886048163 11:2592600-2592600 11:2571370-2571370
19 KCNQ1 NM_181798.1(KCNQ1):c.*26C>ASNV Uncertain significance 304232 rs886048166 11:2869259-2869259 11:2848029-2848029
20 TRPM4 NM_017636.4(TRPM4):c.678C>G (p.Asp226Glu)SNV Uncertain significance 180561 rs730880236 19:49671875-49671875 19:49168618-49168618
21 CACNA2D1 NM_000722.4(CACNA2D1):c.1141A>G (p.Lys381Glu)SNV Uncertain significance 263722 rs756707031 7:81662115-81662115 7:82032799-82032799
22 KCNQ1 NM_181798.1(KCNQ1):c.974G>A (p.Arg325Gln)SNV Uncertain significance 67030 rs145229963 11:2610046-2610046 11:2588816-2588816
23 KCNQ1 NM_181798.1(KCNQ1):c.1592C>A (p.Thr531Asn)SNV Uncertain significance 304230 rs377661455 11:2869175-2869175 11:2847945-2847945
24 KCNJ2 NM_000891.2(KCNJ2):c.-162delinsTCAGAGTAGTindel Uncertain significance 324827 rs376713253 17:68171019-68171019 17:70174878-70174878
25 KCNJ2 NM_000891.2(KCNJ2):c.*324deldeletion Uncertain significance 324839 rs570173316 17:68172786-68172786 17:70176645-70176645
26 KCNJ2 NM_000891.2(KCNJ2):c.*1128dupduplication Uncertain significance 324851 rs777658732 17:68173591-68173592 17:70177450-70177451
27 KCNJ2 NM_000891.2(KCNJ2):c.*1704_*1705dupCTshort repeat Uncertain significance 324864 rs1555604187 17:68174165-68174166 17:70178024-70178025
28 KCNJ2 NM_000891.2(KCNJ2):c.*2770_*2775deldeletion Uncertain significance 324883 rs35656864 17:68175206-68175211 17:70179065-70179070
29 KCNJ2 NM_000891.2(KCNJ2):c.*2875_*2876deldeletion Uncertain significance 324887 rs561353262 17:68175339-68175340 17:70179198-70179199
30 KCNJ2 NM_000891.2(KCNJ2):c.*3391_*3392dupduplication Uncertain significance 324894 rs552636156 17:68175852-68175853 17:70179711-70179712
31 KCNJ2 NM_000891.2(KCNJ2):c.*3463deldeletion Uncertain significance 324895 rs3841509 17:68175918-68175918 17:70179777-70179777
32 KCNJ2 NM_000891.2(KCNJ2):c.-88C>TSNV Uncertain significance 324828 rs886053322 17:68171093-68171093 17:70174952-70174952
33 KCNJ2 NM_000891.2(KCNJ2):c.*1702_*1704dupduplication Uncertain significance 324862 rs1555604193 17:68174165-68174166 17:70178024-70178025
34 KCNJ2 NM_000891.2(KCNJ2):c.*1720_*1721dupduplication Uncertain significance 324866 rs35753731 17:68174168-68174169 17:70178027-70178028
35 KCNJ2 NM_000891.2(KCNJ2):c.*1721dupduplication Uncertain significance 324865 rs35753731 17:68174168-68174169 17:70178027-70178028
36 KCNJ2 NM_000891.2(KCNJ2):c.*1719_*1721dupduplication Uncertain significance 324867 rs35753731 17:68174168-68174169 17:70178027-70178028
37 KCNJ2 NM_000891.2(KCNJ2):c.*2774_*2775deldeletion Uncertain significance 324880 rs35656864 17:68175206-68175207 17:70179065-70179066
38 KCNJ2 NM_000891.2(KCNJ2):c.*2775dupduplication Uncertain significance 324879 rs35656864 17:68175205-68175206 17:70179064-70179065
39 KCNJ2 NM_000891.2(KCNJ2):c.*2776deldeletion Uncertain significance 324885 rs886053343 17:68175240-68175240 17:70179099-70179099
40 KCNJ2 NM_000891.2(KCNJ2):c.*1702dupduplication Uncertain significance 324863 rs886053334 17:68174165-68174166 17:70178024-70178025
41 KCNJ2 NM_000891.2(KCNJ2):c.*2771_*2775deldeletion Uncertain significance 324882 rs35656864 17:68175206-68175210 17:70179065-70179069
42 KCNJ2 NM_000891.2(KCNJ2):c.*2772_*2775deldeletion Uncertain significance 324881 rs35656864 17:68175206-68175209 17:70179065-70179068
43 KCNQ1 NM_181798.1(KCNQ1):c.1598C>A (p.Pro533His)SNV Uncertain significance 304231 rs886048165 11:2869181-2869181 11:2847951-2847951
44 KCNQ1 NM_181798.1(KCNQ1):c.*887_*889deldeletion Uncertain significance 304264 rs886048175 11:2870119-2870121 11:2848889-2848891
45 KCNQ1 NM_181798.1(KCNQ1):c.*889_*891AAT[1]short repeat Likely benign 304265 rs546360517 11:2870122-2870124 11:2848892-2848894
46 KCNQ1 NM_181798.1(KCNQ1):c.*241G>ASNV Likely benign 304237 rs142023323 11:2869474-2869474 11:2848244-2848244
47 KCNQ1 NM_181798.1(KCNQ1):c.1133+4974G>ASNV Likely benign 304228 rs188083723 11:2688285-2688285 11:2667055-2667055
48 KCNQ1 NM_181798.1(KCNQ1):c.1012+21526C>TSNV Likely benign 304221 rs72847701 11:2631610-2631610 11:2610380-2610380
49 KCNQ1 NM_181798.1(KCNQ1):c.*377deldeletion Likely benign 304243 rs762386874 11:2869606-2869606 11:2848376-2848376
50 KCNQ1 NM_181798.1(KCNQ1):c.1012+21538C>TSNV Likely benign 304222 rs72850203 11:2631622-2631622 11:2610392-2610392

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 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.62 RYR2 NOS1AP KCNQ1 KCNJ2 CACNA1C
2
Show member pathways
12.5 SCN5A SCN3B RYR2 KCNQ1 KCNJ2 KCNH2
3
Show member pathways
12.41 SCN5A RYR2 KCNQ1 KCNE1 CACNB2 CACNA2D1
4
Show member pathways
12.35 RYR2 KCNJ2 CACNB2 CACNA2D1 CACNA1C
5 12.22 KCNQ1 KCNJ2 KCNH2 KCNE3 KCNE2 KCNE1
6
Show member pathways
12.11 RYR2 CACNB2 CACNA2D1 CACNA1C
7
Show member pathways
12.01 RYR2 CACNB2 CACNA2D1 CACNA1C
8 12.01 SCN5A SCN3B RYR2 NOS1AP KCNQ1 KCNH2
9 11.96 RYR2 CACNB2 CACNA2D1 CACNA1C
10
Show member pathways
11.85 CACNB2 CACNA2D1 CACNA1C
11 11.74 RYR2 CASQ2 CACNB2 CACNA2D1 CACNA1C
12
Show member pathways
11.73 SCN5A SCN3B KCNQ1 KCNE5 KCNE3 KCNE2
13 11.52 KCNQ1 CACNB2 CACNA2D1 CACNA1C
14 11.42 RYR2 CACNB2 CACNA2D1 CACNA1C
15 11.18 SCN5A SCN3B RYR2 KCNQ1 KCNJ2 KCNH2
16 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 15)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.42 TRPM4 SLC4A3 SCN5A SCN3B RYR2 KCNQ1
2 integral component of membrane GO:0016021 10.32 TRPM4 SLC4A3 SCN5A SCN3B RYR2 KCNQ1
3 plasma membrane GO:0005886 10.22 TRPM4 SLC4A3 SCN5A SCN3B RYR2 MYPN
4 cell GO:0005623 10.04 TRPM4 SLC4A3 RYR2 KCNJ2 CASQ2 CACNA2D1
5 sarcolemma GO:0042383 9.77 SCN5A RYR2 NOS1AP CACNB2 CACNA1C
6 sarcoplasmic reticulum GO:0016529 9.69 RYR2 CASQ2 CACNA2D1
7 T-tubule GO:0030315 9.65 SCN5A NOS1AP KCNJ2 CACNA2D1 CACNA1C
8 sarcoplasmic reticulum membrane GO:0033017 9.63 RYR2 NOS1AP CASQ2
9 voltage-gated calcium channel complex GO:0005891 9.58 CACNB2 CACNA2D1 CACNA1C
10 voltage-gated sodium channel complex GO:0001518 9.54 SCN5A SCN3B
11 junctional sarcoplasmic reticulum membrane GO:0014701 9.52 RYR2 CASQ2
12 voltage-gated potassium channel complex GO:0008076 9.5 KCNQ1 KCNJ2 KCNH2 KCNE5 KCNE3 KCNE2
13 L-type voltage-gated calcium channel complex GO:1990454 9.46 NOS1AP CACNB2 CACNA2D1 CACNA1C
14 inward rectifier potassium channel complex GO:1902937 9.43 NOS1AP KCNH2
15 Z disc GO:0030018 9.23 SCN5A SCN3B RYR2 NOS1AP MYPN KCNE1

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

(show top 50) (show all 58)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 10.2 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 cardiac muscle contraction GO:0060048 10.07 SCN5A SCN3B RYR2 KCNQ1 KCNH2 KCNE5
5 calcium ion transport GO:0006816 10.04 TRPM4 RYR2 CACNB2 CACNA2D1 CACNA1C
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 regulation of ion transmembrane transport GO:0034765 10 SCN5A SCN3B KCNQ1 KCNJ2 KCNH2 KCNE3
10 positive regulation of potassium ion transmembrane transport GO:1901381 9.99 NOS1AP KCNQ1 KCNJ2 KCNH2 KCNE5 KCNE1
11 membrane repolarization during action potential GO:0086011 9.98 KCNQ1 KCNJ2 KCNH2 KCNE5 KCNE3 KCNE2
12 potassium ion export across plasma membrane GO:0097623 9.97 KCNQ1 KCNH2 KCNE5 KCNE3 KCNE2 KCNE1
13 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.97 SCN5A NOS1AP KCNQ1 KCNH2 KCNE5 KCNE3
14 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.95 KCNQ1 KCNH2 KCNE5 KCNE3 KCNE2 KCNE1
15 cardiac muscle cell action potential involved in contraction GO:0086002 9.95 SCN5A SCN3B KCNJ2 KCNE2 KCNE1 CACNA2D1
16 positive regulation of heart rate GO:0010460 9.93 TRPM4 SCN3B RYR2 KCNQ1
17 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.93 KCNQ1 KCNJ2 KCNH2 KCNE5 KCNE1
18 regulation of membrane repolarization GO:0060306 9.93 KCNQ1 KCNJ2 KCNH2 KCNE5 KCNE2 CASQ2
19 cardiac conduction GO:0061337 9.93 TRPM4 SLC4A3 SCN5A SCN3B KCNQ1 KCNJ2
20 regulation of potassium ion transmembrane transport GO:1901379 9.91 KCNH2 KCNE5 KCNE2 KCNE1
21 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.88 KCNE5 KCNE3 KCNE2 KCNE1
22 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.88 SCN5A SCN3B KCNJ2 CACNA1C
23 cellular response to drug GO:0035690 9.87 KCNQ1 KCNH2 KCNE2
24 membrane repolarization GO:0086009 9.87 KCNQ1 KCNH2 KCNE2 KCNE1
25 potassium ion import across plasma membrane GO:1990573 9.86 KCNJ2 KCNH2 KCNE2
26 atrial cardiac muscle cell action potential GO:0086014 9.86 SCN5A SCN3B KCNQ1 KCNE5
27 regulation of heart rate GO:0002027 9.85 SCN5A RYR2 CASQ2
28 membrane depolarization during AV node cell action potential GO:0086045 9.85 TRPM4 SCN5A CACNB2 CACNA1C
29 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.84 RYR2 CASQ2 CACNA1C
30 membrane depolarization during action potential GO:0086010 9.83 SCN5A SCN3B KCNH2
31 calcium ion transport into cytosol GO:0060402 9.83 RYR2 CACNA2D1 CACNA1C
32 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.82 TRPM4 RYR2 CACNA1C
33 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.81 SCN5A KCNQ1 KCNE5
34 negative regulation of potassium ion export across plasma membrane GO:1903765 9.8 KCNH2 KCNE5 KCNE3
35 membrane depolarization during atrial cardiac muscle cell action potential GO:0098912 9.79 SCN5A CACNB2 CACNA1C
36 membrane depolarization during bundle of His cell action potential GO:0086048 9.79 TRPM4 SCN5A CACNA2D1
37 regulation of heart rate by cardiac conduction GO:0086091 9.77 TRPM4 SCN5A SCN3B KCNQ1 KCNJ2 KCNH2
38 membrane depolarization GO:0051899 9.72 SCN5A SCN3B
39 positive regulation of sodium ion transport GO:0010765 9.72 SCN5A SCN3B
40 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.72 RYR2 CACNA1C
41 regulation of cardiac muscle cell contraction GO:0086004 9.72 SCN5A KCNJ2
42 cellular response to epinephrine stimulus GO:0071872 9.71 RYR2 KCNQ1
43 detection of calcium ion GO:0005513 9.71 RYR2 CASQ2
44 negative regulation of potassium ion transmembrane transport GO:1901380 9.71 KCNH2 KCNE5
45 cellular response to caffeine GO:0071313 9.71 RYR2 CASQ2
46 regulation of calcium ion transmembrane transport via high voltage-gated calcium channel GO:1902514 9.71 NOS1AP CACNA2D1
47 positive regulation of voltage-gated calcium channel activity GO:1901387 9.7 KCNE3 KCNE2
48 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.7 SCN5A SCN3B
49 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.7 SCN5A SCN3B
50 regulation of delayed rectifier potassium channel activity GO:1902259 9.69 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 ion channel activity GO:0005216 9.93 TRPM4 SCN5A RYR2 KCNQ1 KCNH2 CACNA1C
2 calmodulin binding GO:0005516 9.91 TRPM4 SCN5A RYR2 KCNQ1 CACNA1C
3 calcium channel activity GO:0005262 9.88 TRPM4 RYR2 CACNB2 CACNA2D1 CACNA1C
4 ion channel binding GO:0044325 9.86 SCN5A SCN3B RYR2 KCNQ1 KCNE5 KCNE3
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 9.8 KCNE5 KCNE3 KCNE2 KCNE1
8 delayed rectifier potassium channel activity GO:0005251 9.8 KCNQ1 KCNH2 KCNE5 KCNE3 KCNE2 KCNE1
9 scaffold protein binding GO:0097110 9.74 SCN5A KCNQ1 KCNH2
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 nitric-oxide synthase binding GO:0050998 9.59 SCN5A NOS1AP
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 voltage-gated ion channel activity GO:0005244 9.36 SCN5A SCN3B KCNQ1 KCNJ2 KCNH2 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
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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