SQTS
MCID: FML294
MIFTS: 43

Familial 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 Familial Short Qt Syndrome

MalaCards integrated aliases for Familial Short Qt Syndrome:

Name: Familial Short Qt Syndrome 58
Genetic Short Qt Syndrome 71
Sqts 58

Characteristics:

Orphanet epidemiological data:

58
familial short qt syndrome
Inheritance: Autosomal dominant; Age of onset: All ages;

Classifications:



External Ids:

ICD10 via Orphanet 33 I49.8
Orphanet 58 ORPHA51083
UMLS 71 C3697638

Summaries for Familial Short Qt Syndrome

MalaCards based summary : Familial Short Qt Syndrome, also known as genetic short qt syndrome, is related to ventricular fibrillation, paroxysmal familial, 1 and syncope. An important gene associated with Familial Short Qt Syndrome is KCNH2 (Potassium Voltage-Gated Channel Subfamily H Member 2), and among its related pathways/superpathways are Transmission across Chemical Synapses and Cardiac conduction. Affiliated tissues include heart, testes and eye, and related phenotypes are shortened qt interval and bradycardia

Related Diseases for Familial 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 Familial Short Qt Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
# Related Disease Score Top Affiliating Genes
1 ventricular fibrillation, paroxysmal familial, 1 29.3 KCNQ1 KCNH2
2 syncope 28.8 KCNQ1 KCNJ2 KCNH2
3 short qt syndrome 28.2 KCNQ1 KCNJ2 KCNH2 CACNA2D1
4 qt interval, variation in 11.4
5 neutropenia 10.2
6 long qt syndrome 12 9.7 KCNQ1 KCNH2
7 long qt syndrome 10 9.7 KCNQ1 KCNH2
8 cardiac conduction defect 9.6 KCNQ1 KCNH2
9 long qt syndrome 11 9.6 KCNQ1 KCNJ2
10 atrioventricular block 9.6 KCNQ1 KCNH2
11 leopard syndrome 9.6 KCNQ1 KCNH2
12 long qt syndrome 9 9.5 KCNQ1 KCNJ2
13 hypokalemia 9.5 KCNQ1 KCNH2
14 congestive heart failure 9.4 KCNQ1 KCNJ2
15 familial long qt syndrome 9.3 KCNQ1 KCNJ2 KCNH2
16 long qt syndrome 6 9.3 KCNQ1 KCNJ2 KCNH2
17 long qt syndrome 13 9.3 KCNQ1 KCNJ2 KCNH2
18 cardiac arrest 9.3 KCNQ1 KCNH2 CACNA2D1
19 atrial fibrillation 9.3 KCNQ1 KCNJ2 KCNH2
20 long qt syndrome 5 9.3 KCNQ1 KCNJ2 KCNH2
21 sinoatrial node disease 9.3 KCNQ1 KCNJ2 KCNH2
22 jervell and lange-nielsen syndrome 1 9.3 KCNQ1 KCNJ2 KCNH2
23 long qt syndrome 3 9.3 KCNQ1 KCNJ2 KCNH2
24 andersen cardiodysrhythmic periodic paralysis 9.3 KCNQ1 KCNJ2 KCNH2
25 cardiac arrhythmia 9.3 KCNQ1 KCNJ2 KCNH2
26 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.3 KCNQ1 KCNJ2 KCNH2
27 myasthenic syndrome, congenital, 5 9.3 KCNQ1 KCNJ2 KCNH2
28 long qt syndrome 2 9.3 KCNQ1 KCNJ2 KCNH2
29 heart conduction disease 9.2 KCNQ1 KCNJ2 KCNH2
30 sudden infant death syndrome 9.2 KCNQ1 KCNH2
31 wolff-parkinson-white syndrome 9.2 KCNQ1 KCNJ2 KCNH2
32 intrinsic cardiomyopathy 9.2 KCNQ1 KCNJ2 KCNH2
33 left ventricular noncompaction 9.2 KCNQ1 KCNJ2 KCNH2
34 congenital myasthenic syndrome 9.2 KCNQ1 KCNJ2 KCNH2
35 brugada syndrome 4 8.9 KCNQ1 KCNJ2 KCNH2 CACNA2D1
36 brugada syndrome 8.9 KCNQ1 KCNJ2 KCNH2 CACNA2D1
37 timothy syndrome 8.9 KCNQ1 KCNJ2 KCNH2 CACNA2D1
38 heart disease 8.9 KCNQ1 KCNJ2 KCNH2
39 catecholaminergic polymorphic ventricular tachycardia 8.9 KCNQ1 KCNJ2 KCNH2 CACNA2D1
40 long qt syndrome 1 8.9 KCNQ1 KCNJ2 KCNH2 CACNA2D1
41 long qt syndrome 8.9 KCNQ1 KCNJ2 KCNH2 CACNA2D1
42 familial atrial fibrillation 8.9 KCNQ1 KCNJ2 KCNH2 CACNA2D1
43 dilated cardiomyopathy 8.9 KCNQ1 KCNJ2 KCNH2 CACNA2D1

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



Diseases related to Familial Short Qt Syndrome

Symptoms & Phenotypes for Familial Short Qt Syndrome

Human phenotypes related to Familial Short Qt Syndrome:

58 31 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 shortened qt interval 58 31 obligate (100%) Obligate (100%) HP:0012232
2 bradycardia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001662
3 atrial fibrillation 58 31 frequent (33%) Frequent (79-30%) HP:0005110
4 palpitations 58 31 frequent (33%) Frequent (79-30%) HP:0001962
5 sudden cardiac death 58 31 occasional (7.5%) Occasional (29-5%) HP:0001645
6 atrioventricular block 58 31 occasional (7.5%) Occasional (29-5%) HP:0001678
7 syncope 58 31 occasional (7.5%) Occasional (29-5%) HP:0001279
8 ventricular fibrillation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001663
9 ventricular arrhythmia 58 Occasional (29-5%)

MGI Mouse Phenotypes related to Familial Short Qt Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.26 CACNA2D1 KCNH2 KCNJ2 KCNQ1
2 muscle MP:0005369 8.92 CACNA2D1 KCNH2 KCNJ2 KCNQ1

Drugs & Therapeutics for Familial Short Qt Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 China Inherited Ventricular Arrhythmias Registry, a Multicenter, Observational and Prospective Study Recruiting NCT03880708

Search NIH Clinical Center for Familial Short Qt Syndrome

Genetic Tests for Familial Short Qt Syndrome

Anatomical Context for Familial Short Qt Syndrome

MalaCards organs/tissues related to Familial Short Qt Syndrome:

40
Heart, Testes, Eye, Skin

Publications for Familial Short Qt Syndrome

Articles related to Familial Short Qt Syndrome:

(show top 50) (show all 149)
# Title Authors PMID Year
1
Short QT syndrome manifesting with neonatal atrial fibrillation and bradycardia. 61 6
24818999 2014
2
A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene. 61 6
15761194 2005
3
A new KCNQ1 mutation at the S5 segment that impairs its association with KCNE1 is responsible for short QT syndrome. 6
26168993 2015
4
Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. 6
23994779 2013
5
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). 6
21810866 2011
6
De novo KCNQ1 mutation responsible for atrial fibrillation and short QT syndrome in utero. 6
16109388 2005
7
Short QT syndrome and atrial fibrillation caused by mutation in KCNH2. 6
15828882 2005
8
Mutation in the KCNQ1 gene leading to the short QT-interval syndrome. 6
15159330 2004
9
Sudden death associated with short-QT syndrome linked to mutations in HERG. 6
14676148 2004
10
Short QT Syndrome: a familial cause of sudden death. 6
12925462 2003
11
Idiopathic short QT interval: a new clinical syndrome? 6
11173780 2000
12
[Long and short QT syndromes : Emergency treatment and secondary prophylaxis]. 61
32025785 2020
13
Ventricular Dysrhythmias During Long-Term Follow-Up in Patients With Inherited Cardiac Arrhythmia. 61
31481179 2019
14
Long-term follow-up of implantable cardioverter-defibrillators in Short QT syndrome. 61
30879093 2019
15
Drug Testing in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes From a Patient With Short QT Syndrome Type 1. 61
30947366 2019
16
Acquired short QT syndrome in a cancer patient treated with Toad. 61
31037741 2019
17
Estimation of economic weights for number of teats and sperm quality traits in pigs. 61
31515873 2019
18
Electrical storm in an acquired short QT syndrome successfully treated with quinidine. 61
31428405 2019
19
Pharmacotherapeutic Effects of Quinidine on Short QT Syndrome by Using Purkinje-Ventricle Model: A Simulation Study. 61
31946488 2019
20
Modeling Reentry in the Short QT Syndrome With Human-Induced Pluripotent Stem Cell-Derived Cardiac Cell Sheets. 61
31072576 2019
21
Functional and pharmacological characterization of an S5 domain hERG mutation associated with short QT syndrome. 61
31049424 2019
22
Impact of Antiarrhythmic Drugs on the Outcome of Short QT Syndrome. 61
31427960 2019
23
An Update on the Structure of hERG. 61
32038248 2019
24
Differences in Short QT Syndrome Subtypes: A Systematic Literature Review and Pooled Analysis. 61
32010184 2019
25
Long-Term Follow-Up of Patients With Short QT Syndrome: Clinical Profile and Outcome. 61
30571592 2018
26
Antiarrhythmic effect of antazoline in experimental models of acquired short- and long-QT-syndromes. 61
29377987 2018
27
Action potential clamp characterization of the S631A hERG mutation associated with short QT syndrome. 61
30175559 2018
28
Tentative Screening Criteria for Short QT Interval in Children and Adolescents. 61
30047504 2018
29
Broad antiarrhythmic effect of mexiletine in different arrhythmia models. 61
29016765 2018
30
Diagnosis and management of short QT syndrome. 61
29501667 2018
31
Computational Analysis of the Action of Chloroquine on Short QT Syndrome Variant 1 and Variant 3 in Human Ventricles. 61
30441573 2018
32
Multiple clinical profiles of families with the short QT syndrome. 61
29016797 2018
33
Strong sesquiterpene emissions from Amazonian soils. 61
29884892 2018
34
Emerging therapeutic targets in the short QT syndrome. 61
29697308 2018
35
Impact of QTc formulae in the prevalence of short corrected QT interval and impact on probability and diagnosis of short QT syndrome. 61
28954836 2018
36
Therapeutic effects of a taurine-magnesium coordination compound on experimental models of type 2 short QT syndrome. 61
29072257 2018
37
Molecular Insights into the Short QT Syndrome. 61
31355049 2018
38
Modeling Short QT Syndrome Using Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes. 61
29574456 2018
39
Hydroquinidine Prevents Life-Threatening Arrhythmic Events in Patients With Short QT Syndrome. 61
29241489 2017
40
Loss-of-activity-mutation in the cardiac chloride-bicarbonate exchanger AE3 causes short QT syndrome. 61
29167417 2017
41
Genetic causes of sudden cardiac death in children: inherited arrhythmogenic diseases. 61
28759457 2017
42
The new kids on the block of arrhythmogenic disorders: Short QT syndrome and early repolarization. 61
28569435 2017
43
Pro-arrhythmogenic Effects of the V141M KCNQ1 Mutation in Short QT Syndrome and Its Potential Therapeutic Targets: Insights from Modeling. 61
29213224 2017
44
Modelling the effects of quinidine, disopyramide, and E-4031 on short QT syndrome variant 3 in the human ventricles. 61
28812984 2017
45
In silico investigation of a KCNQ1 mutation associated with short QT syndrome. 61
28814790 2017
46
Modeling the effects of amiodarone on short QT syndrome variant 2 in the human ventricles. 61
29060841 2017
47
Effects of island-distribution of mid-cardiomyocytes on ventricular electrical excitation associated with the KCNQ1-linked short QT syndrome. 61
29060698 2017
48
The Phenotypic Spectrum of a Mutation Hotspot Responsible for the Short QT Syndrome. 61
29759541 2017
49
Effects of amiodarone on short QT syndrome variant 3 in human ventricles: a simulation study. 61
28592292 2017
50
Channelopathies, genetic testing and risk stratification. 61
28343764 2017

Variations for Familial Short Qt Syndrome

ClinVar genetic disease variations for Familial 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 Familial Short Qt Syndrome

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

Pathways for Familial Short Qt Syndrome

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.31 KCNQ1 KCNJ2 KCNH2 CACNA2D1
2
Show member pathways
11.98 KCNQ1 KCNJ2 KCNH2 CACNA2D1
3 11.85 KCNQ1 KCNJ2 KCNH2
4
Show member pathways
11.69 KCNQ1 KCNJ2
5 11.67 KCNQ1 KCNH2
6
Show member pathways
11.6 KCNQ1 KCNJ2 KCNH2
7
Show member pathways
11.31 KCNQ1 CACNA2D1
8 11.17 KCNQ1 CACNA2D1
9 10.65 KCNQ1 KCNJ2
10 10.55 KCNQ1 KCNJ2 KCNH2

GO Terms for Familial Short Qt Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 T-tubule GO:0030315 8.96 KCNJ2 CACNA2D1
2 voltage-gated potassium channel complex GO:0008076 8.8 KCNQ1 KCNJ2 KCNH2

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.76 KCNQ1 KCNJ2 KCNH2 CACNA2D1
2 regulation of ion transmembrane transport GO:0034765 9.71 KCNQ1 KCNJ2 KCNH2 CACNA2D1
3 potassium ion transport GO:0006813 9.67 KCNQ1 KCNJ2 KCNH2
4 potassium ion transmembrane transport GO:0071805 9.65 KCNQ1 KCNJ2 KCNH2
5 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.61 KCNQ1 KCNH2 CACNA2D1
6 cellular response to drug GO:0035690 9.58 KCNQ1 KCNH2
7 cardiac muscle contraction GO:0060048 9.58 KCNQ1 KCNH2
8 potassium ion import across plasma membrane GO:1990573 9.57 KCNJ2 KCNH2
9 ventricular cardiac muscle cell action potential GO:0086005 9.56 KCNQ1 KCNH2
10 cardiac muscle cell action potential involved in contraction GO:0086002 9.55 KCNJ2 CACNA2D1
11 potassium ion export across plasma membrane GO:0097623 9.54 KCNQ1 KCNH2
12 positive regulation of potassium ion transmembrane transport GO:1901381 9.54 KCNQ1 KCNJ2 KCNH2
13 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.52 KCNQ1 KCNH2
14 membrane repolarization GO:0086009 9.51 KCNQ1 KCNH2
15 regulation of membrane repolarization GO:0060306 9.5 KCNQ1 KCNJ2 KCNH2
16 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.43 KCNQ1 KCNJ2 KCNH2
17 membrane repolarization during action potential GO:0086011 9.33 KCNQ1 KCNJ2 KCNH2
18 cardiac conduction GO:0061337 9.26 KCNQ1 KCNJ2 KCNH2 CACNA2D1
19 regulation of heart rate by cardiac conduction GO:0086091 8.92 KCNQ1 KCNJ2 KCNH2 CACNA2D1

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

# Name GO ID Score Top Affiliating Genes
1 potassium channel activity GO:0005267 9.46 KCNQ1 KCNH2
2 phosphatidylinositol-4,5-bisphosphate binding GO:0005546 9.43 KCNQ1 KCNJ2
3 voltage-gated potassium channel activity GO:0005249 9.4 KCNQ1 KCNH2
4 scaffold protein binding GO:0097110 9.37 KCNQ1 KCNH2
5 delayed rectifier potassium channel activity GO:0005251 9.32 KCNQ1 KCNH2
6 inward rectifier potassium channel activity GO:0005242 9.26 KCNJ2 KCNH2
7 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.16 KCNQ1 KCNH2
8 voltage-gated ion channel activity GO:0005244 9.13 KCNQ1 KCNJ2 KCNH2
9 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 8.8 KCNQ1 KCNJ2 KCNH2

Sources for Familial Short Qt Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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