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SQTS
MCID: SHR030
MIFTS: 44

Short Qt Syndrome (SQTS)

Categories: Cardiovascular diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways
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Aliases & Classifications for Short Qt Syndrome

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MalaCards integrated aliases for Short Qt Syndrome:

Name: Short Qt Syndrome 12 74 43 36 29 6 15 71
Qt Syndrome, Short 39
Sqts 43

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Cardiovascular diseases Eye diseases Skin diseases Endocrine diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:0050793
KEGG 36 H00725
UMLS 71 C2348199
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Summaries for Short Qt Syndrome

About this section
MedlinePlus Genetics : 43 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 Transmission across Chemical Synapses and Cardiac conduction. Affiliated tissues include heart, 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...

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Related Diseases for Short Qt Syndrome

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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 95)
# Related Disease Score Top Affiliating Genes
1 short qt syndrome 2 33.0 KCNQ1OT1 KCNQ1-AS1 KCNQ1
2 familial short qt syndrome 32.5 KCNQ1 KCNJ2 KCNH2 CACNA2D1
3 syncope 30.8 SCN5A RYR2 KCNQ1 KCNH2
4 cardiac conduction defect 30.6 TRPM4 SCN5A RYR2 KCNQ1 KCNH2 CACNA1C
5 ventricular fibrillation, paroxysmal familial, 1 30.1 SCN5A RYR2 KCNQ1 KCNH2 KCNE2 KCNE1
6 atrial fibrillation 29.5 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 KCNE2
7 familial long qt syndrome 29.4 SCN5A KCNQ1OT1 KCNQ1-AS1 KCNQ1 KCNH2 KCNE2
8 sudden infant death syndrome 29.4 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 KCNE2
9 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 29.4 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 CASQ2
10 sinoatrial node disease 29.3 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 CACNA1C
11 cardiac arrest 29.3 SCN5A RYR2 NOS1AP KCNQ1 KCNH2 CASQ2
12 cardiac arrhythmia 28.8 SCN5A RYR2 KCNQ1OT1 KCNQ1-AS1 KCNQ1 KCNH2
13 atrioventricular block 28.7 TRPM4 SCN5A RYR2 KCNQ1 KCNH2 KCNE2
14 heart disease 28.2 SCN5A RYR2 NOS1AP KCNQ1 KCNJ2 KCNH2
15 andersen cardiodysrhythmic periodic paralysis 28.0 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 KCNE3
16 jervell and lange-nielsen syndrome 1 27.3 SCN5A KCNQ1OT1 KCNQ1-AS1 KCNQ1 KCNJ2 KCNH2
17 hypertrophic cardiomyopathy 27.2 TRPM4 SCN5A RYR2 NOS1AP MYPN KCNQ1
18 catecholaminergic polymorphic ventricular tachycardia 27.1 TRPM4 SCN5A RYR2 NOS1AP KCNQ1 KCNJ2
19 familial atrial fibrillation 26.7 TRPM4 SCN5A RYR2 KCNQ1OT1 KCNQ1-AS1 KCNQ1
20 brugada syndrome 26.5 TRPM4 SCN5A RYR2 NOS1AP KCNQ1-AS1 KCNQ1
21 long qt syndrome 26.3 TRPM4 SCN5A RYR2 NOS1AP MYPN KCNQ1OT1
22 short qt syndrome 3 11.8
23 short qt syndrome 1 11.7
24 qt interval, variation in 11.1
25 properdin deficiency, x-linked 10.3 KCNJ2 KCNH2
26 atrial fibrillation, familial, 3 10.2 KCNQ1OT1 KCNQ1-AS1 KCNQ1
27 long qt syndrome 15 10.2 KCNJ2 KCNE1 CACNA1C
28 periodic paralyses 10.2 KCNJ2 KCNE3
29 wilms tumor predisposition 10.2 KCNQ1OT1 KCNQ1
30 first-degree atrioventricular block 10.2 SCN5A KCNJ2 KCNH2
31 developmental and epileptic encephalopathy 14 10.1 SCN5A KCNQ1 KCNH2
32 third-degree atrioventricular block 10.1 SCN5A KCNJ2 KCNH2
33 left ventricular noncompaction 1 10.1 SCN5A MYPN
34 brugada syndrome 3 10.1 KCNE2 CACNA1C
35 lateral myocardial infarction 10.1 TRPM4 SCN5A
36 chromosome 2q35 duplication syndrome 10.1 KCNQ1 KCNJ2 KCNH2 CACNA1C
37 brugada syndrome 6 10.0 SCN5A KCNE3
38 atrial standstill 1 10.0
39 sick sinus syndrome 10.0
40 pericarditis 10.0
41 inferior myocardial infarction 10.0
42 arrhythmogenic right ventricular dysplasia, familial, 12 10.0 RYR2 KCNH2 CACNB2
43 anhidrosis, isolated, with normal sweat glands 10.0 RYR2 CACNA1C
44 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.0 SCN5A KCNQ1 KCNH2 CACNA1C
45 hyperkalemic periodic paralysis 10.0 SCN5A KCNJ2 KCNE3
46 idiopathic ventricular fibrillation, non brugada type 10.0 SCN5A RYR2 CACNA1C
47 wolff-parkinson-white syndrome 10.0 SCN5A KCNQ1 CASQ2
48 brugada syndrome 1 10.0 SCN5A RYR2 KCNH2
49 paramyotonia congenita of von eulenburg 9.9 SCN5A KCNJ2 KCNE3
50 ventricular tachycardia, catecholaminergic polymorphic, 3 9.9 RYR2 KCNJ2 CASQ2

Graphical network of the top 20 diseases related to Short Qt Syndrome:



Diseases related to Short Qt Syndrome
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Symptoms & Phenotypes for Short Qt Syndrome

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MGI Mouse Phenotypes related to Short Qt Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.77 CACNA1C CACNA2D1 CACNB2 CASQ2 KCNE3 KCNH2
2 muscle MP:0005369 9.32 CACNA1C CACNA2D1 CASQ2 KCNH2 KCNJ2 KCNQ1
Sources

Drugs & Therapeutics for Short Qt Syndrome

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Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase III Trial Assessing the Efficacy and Safety of Grazax in Subjects With Seasonal Grass Pollen Induced Rhinoconjunctivitis With or Without Asthma Completed NCT00421655 Phase 3 Grazax

Search NIH Clinical Center for Short Qt Syndrome

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Genetic Tests for Short Qt Syndrome

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Genetic tests related to Short Qt Syndrome:

# Genetic test Affiliating Genes
1 Short Qt Syndrome 29
Sources

Anatomical Context for Short Qt Syndrome

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MalaCards organs/tissues related to Short Qt Syndrome:

40
Heart
Sources

Publications for Short Qt Syndrome

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Articles related to Short Qt Syndrome:

(show top 50) (show all 429)
# Title Authors PMID Year
1
Computational prediction of drug response in short QT syndrome type 1 based on measurements of compound effect in stem cell-derived cardiomyocytes. 61
33591962 2021
2
Long-term prognosis of short QT interval in Korean patients: a multicenter retrospective cohort study. 61
33407155 2021
3
Short QT syndrome: The current evidences of diagnosis and management. 61
33335610 2020
4
[Why do we need genetics in cardiac rhythmology?] 61
32661562 2020
5
Management of ventricular electrical storm: a contemporary appraisal. 61
32984880 2020
6
New Cav1.2 Channelopathy with High-Functioning Autism, Affective Disorder, Severe Dental Enamel Defects, a Short QT Interval, and a Novel CACNA1C Loss-Of-Function Mutation. 61
33203140 2020
7
Human-induced pluripotent stem cells as models for rare cardiovascular diseases: from evidence-based medicine to precision medicine. 61
33206225 2020
8
Electrophysiological characterization of the modified hERGT potassium channel used to obtain the first cryo-EM hERG structure. 61
33091232 2020
9
SARS-CoV-2, COVID-19, and inherited arrhythmia syndromes. 61
32244059 2020
10
Sex-differences in short QT syndrome: A systematic literature review and pooled analysis. 61
31122038 2020
11
The hERG channel activator, RPR260243, enhances protective IKr current early in the refractory period reducing arrhythmogenicity in zebrafish hearts. 61
32559136 2020
12
Effect of Percentage Reduction in Action Potential Duration of M-cells on Re-entry in Short QT Syndrome. 61
33018535 2020
13
Inherited cardiac arrhythmias. 61
32678103 2020
14
Aborted cardiac arrest during sport activity in a teenager diagnosed with short QT syndrome. 61
32372732 2020
15
Inherited primary arrhythmia disorders: cardiac channelopathies and sports activity. 61
29744527 2020
16
Balance Between Rapid Delayed Rectifier K+ Current and Late Na+ Current on Ventricular Repolarization: An Effective Antiarrhythmic Target? 61
32202931 2020
17
[Long and short QT syndromes : Emergency treatment and secondary prophylaxis]. 61
32025785 2020
18
Estimation of economic weights for number of teats and sperm quality traits in pigs. 61
31515873 2020
19
QTc Prolongation and Risk of Torsades de Pointes in Hospitalized Pediatric Oncology Patients. 61
31761428 2020
20
Delayed diagnosis of short QT syndrome concealed by pacemaker implant due to sick sinus syndrome. 61
32011326 2020
21
Ionic Mechanisms of Disopyramide Prolonging Action Potential Duration in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes From a Patient With Short QT Syndrome Type 1. 61
33154722 2020
22
Computational Study to Identify the Effects of the KCNJ2 E299V Mutation in Cardiac Pumping Capacity. 61
32328155 2020
23
Ventricular Dysrhythmias During Long-Term Follow-Up in Patients With Inherited Cardiac Arrhythmia. 61
31481179 2019
24
Long-term follow-up of implantable cardioverter-defibrillators in Short QT syndrome. 61
30879093 2019
25
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
26
Molecular Autopsy Implicates Primary Carnitine Deficiency in Sudden Unexplained Death and Reversible Short QT Syndrome. 61
31472821 2019
27
Acquired short QT syndrome in a cancer patient treated with Toad. 61
31037741 2019
28
Drug Testing in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes From a Patient With Short QT Syndrome Type 1. 61
30947366 2019
29
Electrical storm in an acquired short QT syndrome successfully treated with quinidine. 61
31428405 2019
30
Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants. 61
31315195 2019
31
Pharmacotherapeutic Effects of Quinidine on Short QT Syndrome by Using Purkinje-Ventricle Model: A Simulation Study. 61
31946488 2019
32
Quinidine-A legacy within the modern era of antiarrhythmic therapy. 61
31026503 2019
33
Correction: Atrial arrhythmogenicity of KCNJ2 mutations in short QT syndrome: Insights from virtual human atria. 61
31194727 2019
34
[Research progress in congenital short QT syndrome]. 61
31142090 2019
35
Implantable cardioverter defibrillator replacement guided by T wave safety margin in a short QT syndrome patient. 61
30548872 2019
36
Successful radiofrequency catheter ablation of a premature ventricular contraction triggering ventricular fibrillation in a patient with short QT syndrome. 61
31193207 2019
37
Modeling Reentry in the Short QT Syndrome With Human-Induced Pluripotent Stem Cell-Derived Cardiac Cell Sheets. 61
31072576 2019
38
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
39
Functional and pharmacological characterization of an S5 domain hERG mutation associated with short QT syndrome. 61
31049424 2019
40
Impaired Adrenergic/Protein Kinase A Response of Slow Delayed Rectifier Potassium Channels as a Long QT Syndrome Motif: Importance and Unknowns. 61
30935642 2019
41
Down the rabbit hole: deciphering the short QT syndrome. 61
30689827 2019
42
Use of topical lidocaine in eliminating mechanically stimulated ventricular fibrillation in a patient with short QT syndrome. 61
30891413 2019
43
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
44
Sudden cardiac death in football players: Towards a new pre-participation algorithm. 61
30679986 2019
45
Differences in Short QT Syndrome Subtypes: A Systematic Literature Review and Pooled Analysis. 61
32010184 2019
46
Patient-Specific and Gene-Corrected Induced Pluripotent Stem Cell-Derived Cardiomyocytes Elucidate Single-Cell Phenotype of Short QT Syndrome. 61
30582453 2019
47
Electrocardiographic Assessment and Genetic Analysis in Neonates: a Current Topic of Discussion. 61
30210005 2019
48
Impact of Antiarrhythmic Drugs on the Outcome of Short QT Syndrome. 61
31427960 2019
49
An Update on the Structure of hERG. 61
32038248 2019
50
Sudden cardiac arrest in patients without overt heart disease: a limited value of next generation sequencing. 61
30403391 2018
Sources

Variations for Short Qt Syndrome

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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 TRPM4 NM_017636.4(TRPM4):c.678C>G (p.Asp226Glu) SNV Uncertain significance 180561 rs730880236 19:49671875-49671875 19:49168618-49168618
2 CACNA2D1 NM_000722.4(CACNA2D1):c.2721A>G (p.Ala907=) SNV Uncertain significance 637981 rs758369222 7:81593529-81593529 7:81964213-81964213
3 CACNA2D1 NM_000722.4(CACNA2D1):c.1141A>G (p.Lys381Glu) SNV Uncertain significance 263722 rs756707031 7:81662115-81662115 7:82032799-82032799
4 KCNQ1 NM_000218.2(KCNQ1):c.29C>A (p.Ala10Asp) SNV Uncertain significance 304214 rs886048161 11:2466357-2466357 11:2445127-2445127
5 KCNQ1-AS1 NM_181798.1(KCNQ1):c.*160C>A SNV Uncertain significance 304234 rs886048167 11:2869393-2869393 11:2848163-2848163
6 KCNQ1 NM_181798.1(KCNQ1):c.269C>T (p.Ser90Phe) SNV Uncertain significance 304217 rs886048163 11:2592600-2592600 11:2571370-2571370
7 KCNQ1 NM_181798.1(KCNQ1):c.870+13C>T SNV Uncertain significance 304220 rs201364493 11:2608935-2608935 11:2587705-2587705
8 KCNQ1-AS1 NM_181798.1(KCNQ1):c.*897G>T SNV Uncertain significance 304266 rs561861522 11:2870130-2870130 11:2848900-2848900
9 KCNQ1-AS1 NM_181798.1(KCNQ1):c.1592C>A (p.Thr531Asn) SNV Uncertain significance 304230 rs377661455 11:2869175-2869175 11:2847945-2847945
10 KCNQ1-AS1 NM_181798.1(KCNQ1):c.*554T>G SNV Uncertain significance 304252 rs886048172 11:2869787-2869787 11:2848557-2848557
11 KCNQ1 NM_181798.1(KCNQ1):c.400-6G>T SNV Uncertain significance 304218 rs886048164 11:2594070-2594070 11:2572840-2572840
12 KCNQ1 NM_000218.2(KCNQ1):c.66C>T (p.Gly22=) SNV Uncertain significance 304215 rs886048162 11:2466394-2466394 11:2445164-2445164
13 KCNQ1-AS1 NM_181798.1(KCNQ1):c.*887_*889del Deletion Uncertain significance 304264 rs886048175 11:2870119-2870121 11:2848889-2848891
14 KCNQ1OT1 NM_181798.1(KCNQ1):c.1133+3G>A SNV Uncertain significance 304226 rs374767819 11:2683314-2683314 11:2662084-2662084
15 KCNQ1-AS1 NM_181798.1(KCNQ1):c.*292C>A SNV Uncertain significance 304240 rs886048169 11:2869525-2869525 11:2848295-2848295
16 KCNQ1-AS1 NM_181798.1(KCNQ1):c.1598C>A (p.Pro533His) SNV Uncertain significance 304231 rs886048165 11:2869181-2869181 11:2847951-2847951
17 KCNQ1-AS1 NM_181798.1(KCNQ1):c.*398C>T SNV Uncertain significance 304246 rs886048170 11:2869631-2869631 11:2848401-2848401
18 KCNQ1 NM_181798.1(KCNQ1):c.974G>A (p.Arg325Gln) SNV Uncertain significance 67030 rs145229963 11:2610046-2610046 11:2588816-2588816
19 KCNJ2 NM_000891.2(KCNJ2):c.*1702dup Duplication Uncertain significance 324863 rs886053334 17:68174165-68174166 17:70178024-70178025
20 KCNJ2 NM_000891.2(KCNJ2):c.*1702_*1704dup Duplication Uncertain significance 324862 rs1555604193 17:68174165-68174166 17:70178024-70178025
21 KCNJ2 NM_000891.2(KCNJ2):c.*1128dup Duplication Uncertain significance 324851 rs777658732 17:68173591-68173592 17:70177450-70177451
22 KCNJ2 NM_000891.2(KCNJ2):c.-162delinsTCAGAGTAGT Indel Uncertain significance 324827 rs376713253 17:68171019-68171019 17:70174878-70174878
23 KCNJ2 NM_000891.2(KCNJ2):c.*324del Deletion Uncertain significance 324839 rs570173316 17:68172786-68172786 17:70176645-70176645
24 KCNJ2 NM_000891.2(KCNJ2):c.1259C>T (p.Pro420Leu) SNV Uncertain significance 264482 rs749707062 17:68172439-68172439 17:70176298-70176298
25 KCNJ2 NM_000891.2(KCNJ2):c.*1721dup Duplication Uncertain significance 324865 rs35753731 17:68174168-68174169 17:70178027-70178028
26 KCNJ2 NM_000891.2(KCNJ2):c.*2770_*2775del Deletion Uncertain significance 324883 rs35656864 17:68175206-68175211 17:70179065-70179070
27 KCNJ2 NM_000891.2(KCNJ2):c.*2771_*2775del Deletion Uncertain significance 324882 rs35656864 17:68175206-68175210 17:70179065-70179069
28 KCNJ2 NM_000891.2(KCNJ2):c.*2775dup Duplication Uncertain significance 324879 rs35656864 17:68175205-68175206 17:70179064-70179065
29 KCNJ2 NM_000891.2(KCNJ2):c.*2776del Deletion Uncertain significance 324885 rs886053343 17:68175240-68175240 17:70179099-70179099
30 KCNJ2 NM_000891.2(KCNJ2):c.*1719_*1721dup Duplication Uncertain significance 324867 rs35753731 17:68174168-68174169 17:70178027-70178028
31 KCNJ2 NM_000891.2(KCNJ2):c.*1720_*1721dup Duplication Uncertain significance 324866 rs35753731 17:68174168-68174169 17:70178027-70178028
32 KCNJ2 NM_000891.2(KCNJ2):c.*3463del Deletion Uncertain significance 324895 rs3841509 17:68175918-68175918 17:70179777-70179777
33 KCNJ2 NM_000891.2(KCNJ2):c.*2774_*2775del Deletion Uncertain significance 324880 rs35656864 17:68175206-68175207 17:70179065-70179066
34 KCNJ2 NM_000891.2(KCNJ2):c.*1704_*1705dupCT Microsatellite Uncertain significance 324864 rs1555604187 17:68174165-68174166 17:70178024-70178025
35 KCNJ2 NM_000891.2(KCNJ2):c.-88C>T SNV Uncertain significance 324828 rs886053322 17:68171093-68171093 17:70174952-70174952
36 KCNJ2 NM_000891.2(KCNJ2):c.*2875_*2876del Deletion Uncertain significance 324887 rs561353262 17:68175339-68175340 17:70179198-70179199
37 KCNQ1-AS1 NM_181798.1(KCNQ1):c.*26C>A SNV Uncertain significance 304232 rs886048166 11:2869259-2869259 11:2848029-2848029
38 KCNJ2 NM_000891.2(KCNJ2):c.*2772_*2775del Deletion Uncertain significance 324881 rs35656864 17:68175206-68175209 17:70179065-70179068
39 KCNJ2 NM_000891.2(KCNJ2):c.*3391_*3392dup Duplication Uncertain significance 324894 rs552636156 17:68175852-68175853 17:70179711-70179712
40 KCNQ1-AS1 NM_181798.1(KCNQ1):c.*241G>A SNV Likely benign 304237 rs142023323 11:2869474-2869474 11:2848244-2848244
41 KCNQ1OT1 NM_181798.1(KCNQ1):c.1012+22646C>G SNV Likely benign 304223 rs146407692 11:2632730-2632730 11:2611500-2611500
42 CACNA1C-AS1 NM_000719.7(CACNA1C):c.5918G>A (p.Arg1973Gln) SNV Likely benign 93419 rs112414325 12:2797746-2797746 12:2688580-2688580
43 KCNQ1OT1 NM_181798.1(KCNQ1):c.1133+4974G>A SNV Likely benign 304228 rs188083723 11:2688285-2688285 11:2667055-2667055
44 KCNQ1-AS1 NM_181798.1(KCNQ1):c.*377del Deletion Likely benign 304243 rs762386874 11:2869606-2869606 11:2848376-2848376
45 KCNQ1OT1 NM_181798.1(KCNQ1):c.1012+21538C>T SNV Likely benign 304222 rs72850203 11:2631622-2631622 11:2610392-2610392
46 KCNQ1-AS1 NM_181798.1(KCNQ1):c.*889_*891AAT[1] Microsatellite Likely benign 304265 rs546360517 11:2870122-2870124 11:2848892-2848894
47 KCNQ1 NM_181798.1(KCNQ1):c.1368C>T (p.Arg456=) SNV Likely benign 138005 rs200670744 11:2799222-2799222 11:2777992-2777992
48 KCNQ1OT1 NM_181798.1(KCNQ1):c.1012+21526C>T SNV Likely benign 304221 rs72847701 11:2631610-2631610 11:2610380-2610380
49 KCNQ1 NM_000218.3(KCNQ1):c.478-8C>T SNV Likely benign 42491 rs150711844 11:2591850-2591850 11:2570620-2570620
50 KCNQ1OT1 NM_181798.1(KCNQ1):c.1012+31361T>A SNV Benign 304225 rs200391321 11:2641445-2641445 11:2620215-2620215
Sources

Expression for Short Qt Syndrome

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Search GEO for disease gene expression data for Short Qt Syndrome.
Sources

Pathways for Short Qt Syndrome

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Pathways related to Short Qt Syndrome according to GeneCards Suite gene sharing:

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Transmission across Chemical Synapses 65
Show member pathways
 12.83 KCNQ1 KCNJ2 KCNH2 CACNB2 CACNA2D1
2
Cardiac conduction 65
Show member pathways
 12.66 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 KCNE5
3
Circadian entrainment 36
Show member pathways
 12.62 RYR2 NOS1AP KCNQ1 KCNJ2 CACNA1C
4
cGMP-PKG signaling pathway 36
Show member pathways
 12.37 SCN5A RYR2 KCNQ1 KCNE1 CACNB2 CACNA2D1
5
Oxytocin signaling pathway 36
Show member pathways
 12.35 RYR2 KCNJ2 CACNB2 CACNA2D1 CACNA1C
6
Salivary secretion 36
Show member pathways
 12.29 RYR2 KCNQ1 KCNJ2 KCNE2
7
Dopamine-DARPP32 Feedback onto cAMP Pathway 63
12.22 KCNQ1 KCNJ2 KCNH2 KCNE3 KCNE2 KCNE1
8
Dilated cardiomyopathy 36
Show member pathways
 12.11 RYR2 CACNB2 CACNA2D1 CACNA1C
9
Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways 1
12.06 SCN5A RYR2 NOS1AP KCNQ1 KCNH2
10
Arrhythmogenic right ventricular cardiomyopathy 36 1
12.01 RYR2 CACNB2 CACNA2D1 CACNA1C
11
Presenilin-Mediated Signaling 63
11.96 RYR2 CACNB2 CACNA2D1 CACNA1C
12
Fc-GammaR Pathway 63
Show member pathways
 11.86 CACNB2 CACNA2D1 CACNA1C
13
Cardiac muscle contraction 36
11.71 RYR2 CASQ2 CACNB2 CACNA2D1 CACNA1C
14
Celecoxib Pathway, Pharmacodynamics 60
11.5 KCNQ1 CACNB2 CACNA2D1 CACNA1C
15
Phase 0 - rapid depolarisation 65
Show member pathways
 11.48 SCN5A KCNQ1 KCNE5 KCNE3 KCNE2 KCNE1
16
Netrin Signaling 63
11.4 RYR2 CACNB2 CACNA2D1 CACNA1C
17
Antiarrhythmic Pathway, Pharmacodynamics 60
11.15 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 KCNE5
18
TarBasePathway 1
10.93 KCNQ1 KCNJ2 KCNE1
Sources

GO Terms for Short Qt Syndrome

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 10.31 TRPM4 SLC4A3 SCN5A RYR2 KCNQ1 KCNJ2
2 plasma membrane GO:0005886 10.24 TRPM4 SLC4A3 SCN5A RYR2 MYPN KCNQ1
3 sarcolemma GO:0042383 9.72 SCN5A RYR2 NOS1AP CACNB2 CACNA1C
4 sarcoplasmic reticulum GO:0016529 9.65 RYR2 CASQ2 CACNA2D1
5 T-tubule GO:0030315 9.65 SCN5A NOS1AP KCNJ2 CACNA2D1 CACNA1C
6 sarcoplasmic reticulum membrane GO:0033017 9.63 RYR2 NOS1AP CASQ2
7 voltage-gated calcium channel complex GO:0005891 9.58 CACNB2 CACNA2D1 CACNA1C
8 junctional sarcoplasmic reticulum membrane GO:0014701 9.51 RYR2 CASQ2
9 Z disc GO:0030018 9.5 SCN5A RYR2 NOS1AP MYPN KCNE1 CASQ2
10 L-type voltage-gated calcium channel complex GO:1990454 9.46 NOS1AP CACNB2 CACNA2D1 CACNA1C
11 inward rectifier potassium channel complex GO:1902937 9.43 NOS1AP KCNH2
12 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 54)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 10.2 TRPM4 SLC4A3 SCN5A RYR2 KCNQ1 KCNH2
2 ion transmembrane transport GO:0034220 10.07 TRPM4 SCN5A RYR2 KCNH2 CASQ2
3 potassium ion transport GO:0006813 10.06 KCNQ1 KCNJ2 KCNH2 KCNE3 KCNE2 KCNE1
4 potassium ion transmembrane transport GO:0071805 10.05 KCNQ1 KCNJ2 KCNH2 KCNE3 KCNE2 KCNE1
5 calcium ion transport GO:0006816 10.04 TRPM4 RYR2 CACNB2 CACNA2D1 CACNA1C
6 calcium ion transmembrane transport GO:0070588 10.03 TRPM4 RYR2 CACNB2 CACNA2D1 CACNA1C
7 cardiac muscle contraction GO:0060048 10.01 SCN5A RYR2 KCNQ1 KCNH2 KCNE5 CASQ2
8 cardiac muscle cell action potential involved in contraction GO:0086002 9.99 SCN5A KCNJ2 KCNE2 KCNE1 CACNA2D1 CACNA1C
9 potassium ion export across plasma membrane GO:0097623 9.97 KCNQ1 KCNH2 KCNE5 KCNE3 KCNE2 KCNE1
10 ventricular cardiac muscle cell action potential GO:0086005 9.97 SCN5A RYR2 KCNQ1 KCNH2 KCNE5 KCNE3
11 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.97 SCN5A NOS1AP KCNQ1 KCNH2 KCNE5 KCNE3
12 regulation of ion transmembrane transport GO:0034765 9.96 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE3 KCNE2
13 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.95 KCNQ1 KCNE5 KCNE3 KCNE2 KCNE1
14 positive regulation of potassium ion transmembrane transport GO:1901381 9.95 NOS1AP KCNQ1 KCNJ2 KCNH2 KCNE5 KCNE1
15 membrane repolarization during action potential GO:0086011 9.95 KCNQ1 KCNJ2 KCNH2 KCNE5 KCNE3 KCNE2
16 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.93 KCNQ1 KCNH2 KCNE5 KCNE3 KCNE2 KCNE1
17 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.92 KCNQ1 KCNJ2 KCNH2 KCNE5 KCNE1
18 regulation of membrane repolarization GO:0060306 9.91 KCNQ1 KCNJ2 KCNH2 KCNE5 KCNE2 CASQ2
19 cardiac conduction GO:0061337 9.9 TRPM4 SLC4A3 SCN5A KCNQ1 KCNJ2 KCNH2
20 regulation of potassium ion transmembrane transport GO:1901379 9.89 KCNH2 KCNE5 KCNE2 KCNE1
21 cellular response to drug GO:0035690 9.87 KCNQ1 KCNH2 KCNE2
22 membrane repolarization GO:0086009 9.87 KCNQ1 KCNH2 KCNE2 KCNE1
23 potassium ion import across plasma membrane GO:1990573 9.86 KCNJ2 KCNH2 KCNE2
24 membrane depolarization during AV node cell action potential GO:0086045 9.86 TRPM4 SCN5A CACNB2 CACNA1C
25 regulation of heart rate GO:0002027 9.85 SCN5A RYR2 CASQ2
26 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.84 RYR2 CASQ2 CACNA1C
27 positive regulation of heart rate GO:0010460 9.83 TRPM4 RYR2 KCNQ1
28 calcium ion transport into cytosol GO:0060402 9.83 RYR2 CACNA2D1 CACNA1C
29 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.82 SCN5A KCNJ2 CACNA1C
30 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.82 TRPM4 RYR2 CACNA1C
31 atrial cardiac muscle cell action potential GO:0086014 9.81 SCN5A KCNQ1 KCNE5
32 negative regulation of voltage-gated potassium channel activity GO:1903817 9.8 KCNQ1 KCNE3 KCNE2
33 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.79 SCN5A KCNQ1 KCNE5
34 negative regulation of potassium ion export across plasma membrane GO:1903765 9.79 KCNH2 KCNE5 KCNE3
35 membrane depolarization during atrial cardiac muscle cell action potential GO:0098912 9.78 SCN5A CACNB2 CACNA1C
36 membrane depolarization during bundle of His cell action potential GO:0086048 9.77 TRPM4 SCN5A CACNA2D1
37 regulation of heart rate by cardiac conduction GO:0086091 9.73 TRPM4 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE5
38 calcium ion import GO:0070509 9.72 CACNB2 CACNA1C
39 membrane depolarization during action potential GO:0086010 9.71 SCN5A KCNH2
40 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.71 RYR2 CACNA1C
41 detection of calcium ion GO:0005513 9.71 RYR2 CASQ2
42 regulation of cardiac muscle cell contraction GO:0086004 9.71 SCN5A KCNJ2
43 cellular response to epinephrine stimulus GO:0071872 9.71 RYR2 KCNQ1
44 negative regulation of potassium ion transmembrane transport GO:1901380 9.7 KCNH2 KCNE5
45 cellular response to caffeine GO:0071313 9.7 RYR2 CASQ2
46 regulation of calcium ion transmembrane transport via high voltage-gated calcium channel GO:1902514 9.7 NOS1AP CACNA2D1
47 positive regulation of voltage-gated calcium channel activity GO:1901387 9.69 KCNE3 KCNE2
48 regulation of delayed rectifier potassium channel activity GO:1902259 9.69 KCNE2 KCNE1
49 positive regulation of high voltage-gated calcium channel activity GO:1901843 9.69 CACNB2 CACNA2D1
50 membrane depolarization during Purkinje myocyte cell action potential GO:0086047 9.68 TRPM4 SCN5A

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.91 TRPM4 SCN5A RYR2 KCNQ1 CACNA1C
2 calcium channel activity GO:0005262 9.88 TRPM4 RYR2 CACNB2 CACNA2D1 CACNA1C
3 ion channel activity GO:0005216 9.88 TRPM4 SCN5A RYR2 KCNQ1 KCNH2 CACNA1C
4 ion channel binding GO:0044325 9.87 SCN5A RYR2 KCNQ1 KCNE5 KCNE3 KCNE2
5 potassium channel activity GO:0005267 9.85 KCNQ1 KCNH2 KCNE3 KCNE2 KCNE1
6 voltage-gated potassium channel activity GO:0005249 9.85 KCNQ1 KCNH2 KCNE5 KCNE3 KCNE2 KCNE1
7 potassium channel regulator activity GO:0015459 9.8 KCNE5 KCNE3 KCNE2 KCNE1
8 scaffold protein binding GO:0097110 9.73 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 voltage-gated calcium channel activity involved in cardiac muscle cell action potential GO:0086007 9.61 CACNB2 CACNA2D1 CACNA1C
13 nitric-oxide synthase binding GO:0050998 9.58 SCN5A NOS1AP
14 protein kinase A catalytic subunit binding GO:0034236 9.58 RYR2 KCNQ1
15 high voltage-gated calcium channel activity GO:0008331 9.57 CACNB2 CACNA1C
16 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.55 KCNQ1 KCNJ2 KCNH2 KCNE5 KCNE1
17 voltage-gated calcium channel activity involved in AV node cell action potential GO:0086056 9.54 CACNB2 CACNA1C
18 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.43 KCNQ1 KCNH2 KCNE5 KCNE3 KCNE2 KCNE1
19 voltage-gated ion channel activity GO:0005244 9.32 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE3 KCNE2
Sources

Sources for Short Qt Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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