SQT2
MCID: SHR032
MIFTS: 32

Short Qt Syndrome 2 (SQT2)

Categories: Cardiovascular diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Short Qt Syndrome 2

MalaCards integrated aliases for Short Qt Syndrome 2:

Name: Short Qt Syndrome 2 57 72 29 6 70
Sqt2 57 72
Qt Syndrome, Short, Type 2 39
Short Qt Syndrome-2 13

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
some patients are clinically asymptomatic


HPO:

31
short qt syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 609621
OMIM Phenotypic Series 57 PS609620
MeSH 44 D001145
MedGen 41 C1865019
UMLS 70 C1865019

Summaries for Short Qt Syndrome 2

OMIM® : 57 Short QT syndrome is a cardiac channelopathy associated with a predisposition to atrial fibrillation and sudden cardiac death. Patients have a structurally normal heart, but electrocardiography (ECG) exhibits abbreviated QTc (Bazett's corrected QT) intervals of less than 360 ms (summary by Moreno et al., 2015). For a discussion of genetic heterogeneity of short QT syndrome, see SQT1 (609620). (609621) (Updated 05-Apr-2021)

MalaCards based summary : Short Qt Syndrome 2, also known as sqt2, is related to short qt syndrome and long qt syndrome. An important gene associated with Short Qt Syndrome 2 is KCNQ1 (Potassium Voltage-Gated Channel Subfamily Q Member 1). Affiliated tissues include heart and atrioventricular node, and related phenotypes are ventricular fibrillation and sudden cardiac death

UniProtKB/Swiss-Prot : 72 Short QT syndrome 2: A heart disorder characterized by idiopathic persistently and uniformly short QT interval on ECG in the absence of structural heart disease in affected individuals. It causes syncope and sudden death.

Related Diseases for Short Qt Syndrome 2

Graphical network of the top 20 diseases related to Short Qt Syndrome 2:



Diseases related to Short Qt Syndrome 2

Symptoms & Phenotypes for Short Qt Syndrome 2

Human phenotypes related to Short Qt Syndrome 2:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 ventricular fibrillation 31 occasional (7.5%) HP:0001663
2 sudden cardiac death 31 HP:0001645
3 syncope 31 HP:0001279
4 atrial fibrillation 31 HP:0005110
5 shortened qt interval 31 HP:0012232
6 bradycardia 31 HP:0001662

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Cardiovascular Heart:
atrial fibrillation
bradycardia
ventricular fibrillation (in some patients)
short qt interval
slow ventricular response
more

Clinical features from OMIM®:

609621 (Updated 05-Apr-2021)

Drugs & Therapeutics for Short Qt Syndrome 2

Search Clinical Trials , NIH Clinical Center for Short Qt Syndrome 2

Genetic Tests for Short Qt Syndrome 2

Genetic tests related to Short Qt Syndrome 2:

# Genetic test Affiliating Genes
1 Short Qt Syndrome 2 29 KCNQ1

Anatomical Context for Short Qt Syndrome 2

MalaCards organs/tissues related to Short Qt Syndrome 2:

40
Heart, Atrioventricular Node

Publications for Short Qt Syndrome 2

Articles related to Short Qt Syndrome 2:

(show all 21)
# Title Authors PMID Year
1
A new KCNQ1 mutation at the S5 segment that impairs its association with KCNE1 is responsible for short QT syndrome. 57 6
26168993 2015
2
Short QT syndrome manifesting with neonatal atrial fibrillation and bradycardia. 57 6
24818999 2014
3
De novo KCNQ1 mutation responsible for atrial fibrillation and short QT syndrome in utero. 6 57
16109388 2005
4
Mutation in the KCNQ1 gene leading to the short QT-interval syndrome. 57 6
15159330 2004
5
Short QT syndrome. 57
15890322 2005
6
Pharmacotherapeutic Effects of Quinidine on Short QT Syndrome by Using Purkinje-Ventricle Model: A Simulation Study. 61
31946488 2019
7
Therapeutic effects of a taurine-magnesium coordination compound on experimental models of type 2 short QT syndrome. 61
29072257 2018
8
Human Atrial Arrhythmogenesis and Sinus Bradycardia in KCNQ1-Linked Short QT Syndrome: Insights From Computational Modelling. 61
30337886 2018
9
In silico investigation of a KCNQ1 mutation associated with short QT syndrome. 61
28814790 2017
10
Effects of island-distribution of mid-cardiomyocytes on ventricular electrical excitation associated with the KCNQ1-linked short QT syndrome. 61
29060698 2017
11
Modeling the effects of amiodarone on short QT syndrome variant 2 in the human ventricles. 61
29060841 2017
12
Structural interplay of KV7.1 and KCNE1 is essential for normal repolarization and is compromised in short QT syndrome 2 (KV7.1-A287T). 61
28491751 2016
13
Characterization of a Chinese KCNQ1 mutation (R259H) that shortens repolarization and causes short QT syndrome 2. 61
26346102 2015
14
Genotype-dependent differences in age of manifestation and arrhythmia complications in short QT syndrome. 61
25974115 2015
15
Differential effects of the β-adrenoceptor blockers carvedilol and metoprolol on SQT1- and SQT2-mutant channels. 61
23718892 2013
16
Congenital short QT syndrome: landmarks of the newest arrhythmogenic cardiac channelopathy. 61
23677719 2013
17
Action potential clamp and mefloquine sensitivity of recombinant 'I KS' channels incorporating the V307L KCNQ1 mutation. 61
20436212 2010
18
Congenital short QT syndrome. 61
20126594 2010
19
Repolarisation and vulnerability to re-entry in the human heart with short QT syndrome arising from KCNQ1 mutation--a simulation study. 61
17905416 2008
20
Short QT syndrome. 61
19804087 2006
21
A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene. 61
15761194 2005

Variations for Short Qt Syndrome 2

ClinVar genetic disease variations for Short Qt Syndrome 2:

6 (show top 50) (show all 120)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KCNQ1 NM_181798.1(KCNQ1):c.538G>C (p.Val180Leu) SNV Pathogenic 3148 rs120074195 GRCh37: 11:2594214-2594214
GRCh38: 11:2572984-2572984
2 KCNQ1 NM_181798.1(KCNQ1):c.454T>A (p.Phe152Ile) SNV Pathogenic 375594 rs1057519584 GRCh37: 11:2594130-2594130
GRCh38: 11:2572900-2572900
3 KCNQ1 NM_181798.1(KCNQ1):c.40G>A (p.Val14Met) SNV Pathogenic 67072 rs199472687 GRCh37: 11:2549192-2549192
GRCh38: 11:2527962-2527962
4 KCNQ1 NM_181798.1(KCNQ1):c.311G>A (p.Arg104His) SNV Pathogenic 53087 rs199472709 GRCh37: 11:2593251-2593251
GRCh38: 11:2572021-2572021
5 KCNQ1 NM_181798.1(KCNQ1):c.424G>A (p.Gly142Ser) SNV Pathogenic 3144 rs120074193 GRCh37: 11:2594100-2594100
GRCh38: 11:2572870-2572870
6 KCNQ1 NM_181798.1(KCNQ1):c.1234C>T (p.Arg412Trp) SNV Pathogenic 52998 rs199472795 GRCh37: 11:2797214-2797214
GRCh38: 11:2775984-2775984
7 KCNQ1 NM_181798.1(KCNQ1):c.704A>G (p.Lys235Arg) SNV Pathogenic 52953 rs12720458 GRCh37: 11:2606494-2606494
GRCh38: 11:2585264-2585264
8 KCNQ1 NM_181798.1(KCNQ1):c.1207C>T (p.Gln403Ter) SNV Pathogenic 52996 rs397508097 GRCh37: 11:2790147-2790147
GRCh38: 11:2768917-2768917
9 KCNQ1 NM_181798.1(KCNQ1):c.1366C>T (p.Arg456Cys) SNV Likely pathogenic 3142 rs17221854 GRCh37: 11:2799220-2799220
GRCh38: 11:2777990-2777990
10 KCNQ1-AS1 , KCNQ1 NM_181798.1(KCNQ1):c.1480G>A (p.Gly494Ser) SNV Uncertain significance 67061 rs199472820 GRCh37: 11:2869063-2869063
GRCh38: 11:2847833-2847833
11 KCNQ1 NM_181798.1(KCNQ1):c.133G>A (p.Val45Met) SNV Uncertain significance 67078 rs199472694 GRCh37: 11:2591894-2591894
GRCh38: 11:2570664-2570664
12 KCNQ1 NM_181798.1(KCNQ1):c.747+5G>A SNV Uncertain significance 200842 rs76735093 GRCh37: 11:2606542-2606542
GRCh38: 11:2585312-2585312
13 KCNQ1 NM_181798.1(KCNQ1):c.973C>T (p.Arg325Trp) SNV Uncertain significance 52980 rs140452381 GRCh37: 11:2610045-2610045
GRCh38: 11:2588815-2588815
14 KCNQ1 NM_181798.1(KCNQ1):c.267C>A (p.Gly89=) SNV Uncertain significance 413279 rs146350010 GRCh37: 11:2592598-2592598
GRCh38: 11:2571368-2571368
15 KCNQ1 NM_000218.3(KCNQ1):c.41G>T (p.Arg14Leu) SNV Uncertain significance 804969 rs1424013094 GRCh37: 11:2466369-2466369
GRCh38: 11:2445139-2445139
16 KCNQ1 NM_000218.2(KCNQ1):c.296C>G (p.Pro99Arg) SNV Uncertain significance 200877 rs370435862 GRCh37: 11:2466624-2466624
GRCh38: 11:2445394-2445394
17 KCNQ1 NM_000218.3(KCNQ1):c.-5T>C SNV Uncertain significance 138009 rs532941548 GRCh37: 11:2466324-2466324
GRCh38: 11:2445094-2445094
18 KCNQ1-AS1 , KCNQ1 NM_181798.1(KCNQ1):c.1474T>A (p.Leu492Met) SNV Uncertain significance 53021 rs199472819 GRCh37: 11:2869057-2869057
GRCh38: 11:2847827-2847827
19 KCNQ1-AS1 , KCNQ1 NM_000218.3(KCNQ1):c.1903G>A (p.Gly635Arg) SNV Uncertain significance 67062 rs199473484 GRCh37: 11:2869105-2869105
GRCh38: 11:2847875-2847875
20 KCNQ1 NM_000218.2(KCNQ1):c.217C>A (p.Pro73Thr) SNV Uncertain significance 53031 rs199472676 GRCh37: 11:2466545-2466545
GRCh38: 11:2445315-2445315
21 KCNQ1 NM_181798.1(KCNQ1):c.974G>A (p.Arg325Gln) SNV Uncertain significance 67030 rs145229963 GRCh37: 11:2610046-2610046
GRCh38: 11:2588816-2588816
22 KCNQ1 NM_181798.1(KCNQ1):c.962C>T (p.Pro321Leu) SNV Uncertain significance 67027 rs12720449 GRCh37: 11:2610034-2610034
GRCh38: 11:2588804-2588804
23 KCNQ1-AS1 , KCNQ1 NM_181798.1(KCNQ1):c.*652G>A SNV Uncertain significance 304255 rs886048174 GRCh37: 11:2869885-2869885
GRCh38: 11:2848655-2848655
24 KCNQ1-AS1 , KCNQ1 NM_181798.1(KCNQ1):c.*266G>A SNV Uncertain significance 304239 rs113029000 GRCh37: 11:2869499-2869499
GRCh38: 11:2848269-2848269
25 KCNQ1-AS1 , KCNQ1 NM_181798.1(KCNQ1):c.*539G>C SNV Uncertain significance 304251 rs886048171 GRCh37: 11:2869772-2869772
GRCh38: 11:2848542-2848542
26 KCNQ1 NM_000218.2(KCNQ1):c.-38C>T SNV Uncertain significance 304213 rs886048160 GRCh37: 11:2466291-2466291
GRCh38: 11:2445061-2445061
27 KCNQ1 NM_181798.1(KCNQ1):c.1413+12C>T SNV Uncertain significance 304229 rs727505084 GRCh37: 11:2799279-2799279
GRCh38: 11:2778049-2778049
28 KCNQ1-AS1 , KCNQ1 NM_181798.1(KCNQ1):c.*633G>A SNV Uncertain significance 304254 rs886048173 GRCh37: 11:2869866-2869866
GRCh38: 11:2848636-2848636
29 KCNQ1-AS1 , KCNQ1 NM_181798.1(KCNQ1):c.*47A>C SNV Uncertain significance 304233 rs754931159 GRCh37: 11:2869280-2869280
GRCh38: 11:2848050-2848050
30 KCNQ1-AS1 , KCNQ1 NM_181798.1(KCNQ1):c.*581T>C SNV Uncertain significance 304253 rs765566577 GRCh37: 11:2869814-2869814
GRCh38: 11:2848584-2848584
31 KCNQ1-AS1 , KCNQ1 NM_181798.1(KCNQ1):c.*1088G>C SNV Uncertain significance 304272 rs886048177 GRCh37: 11:2870321-2870321
GRCh38: 11:2849091-2849091
32 KCNQ1 NM_000218.2(KCNQ1):c.-69G>A SNV Uncertain significance 304212 rs886048159 GRCh37: 11:2466260-2466260
GRCh38: 11:2445030-2445030
33 KCNQ1-AS1 , KCNQ1 NM_181798.1(KCNQ1):c.*171G>A SNV Uncertain significance 304235 rs886048168 GRCh37: 11:2869404-2869404
GRCh38: 11:2848174-2848174
34 KCNQ1-AS1 , KCNQ1 NM_181798.1(KCNQ1):c.*877C>G SNV Uncertain significance 304263 rs763163556 GRCh37: 11:2870110-2870110
GRCh38: 11:2848880-2848880
35 KCNQ1-AS1 , KCNQ1 NM_181798.1(KCNQ1):c.*712G>A SNV Uncertain significance 304256 rs745447199 GRCh37: 11:2869945-2869945
GRCh38: 11:2848715-2848715
36 KCNQ1-AS1 , KCNQ1 NM_181798.1(KCNQ1):c.*392A>C SNV Uncertain significance 304245 rs868129989 GRCh37: 11:2869625-2869625
GRCh38: 11:2848395-2848395
37 KCNQ1 NM_000218.3(KCNQ1):c.-55G>C SNV Uncertain significance 877952 GRCh37: 11:2466274-2466274
GRCh38: 11:2445044-2445044
38 KCNQ1 NM_000218.3(KCNQ1):c.684-15C>G SNV Uncertain significance 878224 GRCh37: 11:2593228-2593228
GRCh38: 11:2571998-2571998
39 KCNQ1-AS1 , KCNQ1 NM_000218.3(KCNQ1):c.*240C>T SNV Uncertain significance 878544 GRCh37: 11:2869473-2869473
GRCh38: 11:2848243-2848243
40 KCNQ1 NM_000218.3(KCNQ1):c.921+12A>G SNV Uncertain significance 878293 GRCh37: 11:2594228-2594228
GRCh38: 11:2572998-2572998
41 KCNQ1 NM_000218.3(KCNQ1):c.1590+13C>A SNV Uncertain significance 878979 GRCh37: 11:2790162-2790162
GRCh38: 11:2768932-2768932
42 KCNQ1-AS1 , KCNQ1 NM_000218.3(KCNQ1):c.*66C>T SNV Uncertain significance 879081 GRCh37: 11:2869299-2869299
GRCh38: 11:2848069-2848069
43 KCNQ1-AS1 , KCNQ1 NM_000218.3(KCNQ1):c.*290A>G SNV Uncertain significance 879136 GRCh37: 11:2869523-2869523
GRCh38: 11:2848293-2848293
44 KCNQ1 NM_000218.3(KCNQ1):c.187C>A (p.Pro63Thr) SNV Uncertain significance 879571 GRCh37: 11:2466515-2466515
GRCh38: 11:2445285-2445285
45 KCNQ1-AS1 , KCNQ1 NM_181798.1(KCNQ1):c.*1055C>T SNV Uncertain significance 304271 rs375155898 GRCh37: 11:2870288-2870288
GRCh38: 11:2849058-2849058
46 KCNQ1 NM_181798.1(KCNQ1):c.263T>G (p.Val88Gly) SNV Uncertain significance 456868 rs368011737 GRCh37: 11:2592594-2592594
GRCh38: 11:2571364-2571364
47 KCNQ1 NM_000218.3(KCNQ1):c.387-12C>T SNV Uncertain significance 877124 GRCh37: 11:2549146-2549146
GRCh38: 11:2527916-2527916
48 KCNQ1 NM_000218.3(KCNQ1):c.534C>T (p.Ala178=) SNV Uncertain significance 877188 GRCh37: 11:2591914-2591914
GRCh38: 11:2570684-2570684
49 KCNQ1-AS1 , KCNQ1 NM_000218.3(KCNQ1):c.*125C>T SNV Uncertain significance 880306 GRCh37: 11:2869358-2869358
GRCh38: 11:2848128-2848128
50 KCNQ1-AS1 , KCNQ1 NM_000218.3(KCNQ1):c.*295G>A SNV Uncertain significance 880340 GRCh37: 11:2869528-2869528
GRCh38: 11:2848298-2848298

UniProtKB/Swiss-Prot genetic disease variations for Short Qt Syndrome 2:

72
# Symbol AA change Variation ID SNP ID
1 KCNQ1 p.Val307Leu VAR_023841 rs120074195

Expression for Short Qt Syndrome 2

Search GEO for disease gene expression data for Short Qt Syndrome 2.

Pathways for Short Qt Syndrome 2

GO Terms for Short Qt Syndrome 2

Sources for Short Qt Syndrome 2

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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