SQT3
MCID: SHR033
MIFTS: 28

Short Qt Syndrome 3 (SQT3)

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 3

MalaCards integrated aliases for Short Qt Syndrome 3:

Name: Short Qt Syndrome 3 56 73 29 6 71
Sqt3 56 73
Qt Syndrome, Short, Type 3 39
Short Qt Syndrome-3 13

Characteristics:

HPO:

31
short qt syndrome 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 609622
OMIM Phenotypic Series 56 PS609620
MeSH 43 D001145
MedGen 41 C1865018
UMLS 71 C1865018

Summaries for Short Qt Syndrome 3

OMIM : 56 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). (609622)

MalaCards based summary : Short Qt Syndrome 3, also known as sqt3, is related to short qt syndrome 1 and short qt syndrome 2. An important gene associated with Short Qt Syndrome 3 is KCNJ2 (Potassium Inwardly Rectifying Channel Subfamily J Member 2). Affiliated tissues include heart, testes and eye, and related phenotypes are tachycardia and palpitations

UniProtKB/Swiss-Prot : 73 Short QT syndrome 3: 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. SQT3 has a unique ECG phenotype characterized by asymmetrical T waves.

Related Diseases for Short Qt Syndrome 3

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 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 short qt syndrome 1 10.2
2 short qt syndrome 2 10.2
3 familial short qt syndrome 10.2
4 short qt syndrome 9.9
5 atrial fibrillation 9.9

Graphical network of the top 20 diseases related to Short Qt Syndrome 3:



Diseases related to Short Qt Syndrome 3

Symptoms & Phenotypes for Short Qt Syndrome 3

Human phenotypes related to Short Qt Syndrome 3:

31
# Description HPO Frequency HPO Source Accession
1 tachycardia 31 HP:0001649
2 palpitations 31 HP:0001962
3 shortened qt interval 31 HP:0012232

Clinical features from OMIM:

609622

Drugs & Therapeutics for Short Qt Syndrome 3

Search Clinical Trials , NIH Clinical Center for Short Qt Syndrome 3

Genetic Tests for Short Qt Syndrome 3

Genetic tests related to Short Qt Syndrome 3:

# Genetic test Affiliating Genes
1 Short Qt Syndrome 3 29 KCNJ2

Anatomical Context for Short Qt Syndrome 3

MalaCards organs/tissues related to Short Qt Syndrome 3:

40
Heart, Testes, Eye, Skin

Publications for Short Qt Syndrome 3

Articles related to Short Qt Syndrome 3:

(show all 23)
# Title Authors PMID Year
1
A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene. 61 56 6
15761194 2005
2
A new KCNQ1 mutation at the S5 segment that impairs its association with KCNE1 is responsible for short QT syndrome. 56
26168993 2015
3
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
4
Short QT syndrome. 56
15890322 2005
5
Pharmacotherapeutic Effects of Quinidine on Short QT Syndrome by Using Purkinje-Ventricle Model: A Simulation Study. 61
31946488 2019
6
Computational Analysis of the Action of Chloroquine on Short QT Syndrome Variant 1 and Variant 3 in Human Ventricles. 61
30441573 2018
7
Modelling the effects of chloroquine on KCNJ2-linked short QT syndrome. 61
29290967 2017
8
Hydrocinnamic Acid Inhibits the Currents of WT and SQT3 Syndrome-Related Mutants of Kir2.1 Channel. 61
28660286 2017
9
Low Prevalence of Inappropriate Shocks in Patients With Inherited Arrhythmia Syndromes With the Subcutaneous Implantable Defibrillator Single Center Experience and Long-Term Follow-Up. 61
29042423 2017
10
Modelling the effects of quinidine, disopyramide, and E-4031 on short QT syndrome variant 3 in the human ventricles. 61
28812984 2017
11
PA-6 inhibits inward rectifier currents carried by V93I and D172N gain-of-function KIR2.1 channels, but increases channel protein expression. 61
28711067 2017
12
Effects of amiodarone on short QT syndrome variant 3 in human ventricles: a simulation study. 61
28592292 2017
13
Atrial arrhythmogenicity of KCNJ2 mutations in short QT syndrome: Insights from virtual human atria. 61
28609477 2017
14
Styrax blocks inward and outward current of Kir2.1 channel. 61
27540685 2017
15
Genotype-dependent differences in age of manifestation and arrhythmia complications in short QT syndrome. 61
25974115 2015
16
KCNJ2 mutation in short QT syndrome 3 results in atrial fibrillation and ventricular proarrhythmia. 61
23440193 2013
17
Congenital short QT syndrome: landmarks of the newest arrhythmogenic cardiac channelopathy. 61
23677719 2013
18
Proarrhythmia in KCNJ2-linked short QT syndrome: insights from modelling. 61
22308236 2012
19
Congenital short QT syndrome. 61
20126594 2010
20
Action potential clamp and chloroquine sensitivity of mutant Kir2.1 channels responsible for variant 3 short QT syndrome. 61
19285083 2009
21
Chloroquine blocks a mutant Kir2.1 channel responsible for short QT syndrome and normalizes repolarization properties in silico. 61
19710529 2009
22
Short QT syndrome. 61
19804087 2006
23
[The best of arrhythmia in 2005]. 61
16479967 2006

Variations for Short Qt Syndrome 3

ClinVar genetic disease variations for Short Qt Syndrome 3:

6 (show all 49) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KCNJ2 NM_000891.2(KCNJ2):c.652C>T (p.Arg218Trp)SNV Pathogenic 8919 rs104894578 17:68171832-68171832 17:70175691-70175691
2 KCNJ2 NM_000891.2(KCNJ2):c.199C>T (p.Arg67Trp)SNV Pathogenic 8923 rs104894580 17:68171379-68171379 17:70175238-70175238
3 KCNJ2 NM_000891.2(KCNJ2):c.514G>A (p.Asp172Asn)SNV Pathogenic 8927 rs104894584 17:68171694-68171694 17:70175553-70175553
4 KCNJ2 NM_000891.2(KCNJ2):c.224C>T (p.Thr75Met)SNV Pathogenic 67565 rs104894585 17:68171404-68171404 17:70175263-70175263
5 KCNJ2 NM_000891.2(KCNJ2):c.244C>T (p.Arg82Trp)SNV Pathogenic 67568 rs199473373 17:68171424-68171424 17:70175283-70175283
6 KCNJ2 NM_000891.2(KCNJ2):c.431G>A (p.Gly144Asp)SNV Pathogenic 67574 rs199473377 17:68171611-68171611 17:70175470-70175470
7 KCNJ2 NM_000891.2(KCNJ2):c.653G>A (p.Arg218Gln)SNV Pathogenic 67585 rs199473384 17:68171833-68171833 17:70175692-70175692
8 KCNJ2 NM_000891.2(KCNJ2):c.1102del (p.Leu368fs)deletion Pathogenic 569363 rs1567823248 17:68172281-68172281 17:70176140-70176140
9 KCNJ2 NM_000891.2(KCNJ2):c.245G>A (p.Arg82Gln)SNV Pathogenic/Likely pathogenic 67569 rs199473653 17:68171425-68171425 17:70175284-70175284
10 KCNJ2 NM_000891.3(KCNJ2):c.896A>G (p.Glu299Gly)SNV Likely pathogenic 689769 17:68172076-68172076 17:70175935-70175935
11 KCNJ2 NM_000891.2(KCNJ2):c.919A>G (p.Met307Val)SNV Conflicting interpretations of pathogenicity 519476 rs1555603994 17:68172099-68172099 17:70175958-70175958
12 KCNJ2 NM_000891.2(KCNJ2):c.226T>G (p.Cys76Gly)SNV Conflicting interpretations of pathogenicity 190808 rs786205812 17:68171406-68171406 17:70175265-70175265
13 KCNJ2 NM_000891.2(KCNJ2):c.277G>A (p.Val93Ile)SNV Conflicting interpretations of pathogenicity 30121 rs147750704 17:68171457-68171457 17:70175316-70175316
14 KCNJ2 NM_000891.2(KCNJ2):c.901A>G (p.Met301Val)SNV Conflicting interpretations of pathogenicity 190816 rs786205818 17:68172081-68172081 17:70175940-70175940
15 KCNJ2 NM_000891.2(KCNJ2):c.935G>A (p.Arg312His)SNV Conflicting interpretations of pathogenicity 190820 rs786205820 17:68172115-68172115 17:70175974-70175974
16 KCNJ2 NM_000891.2(KCNJ2):c.901A>C (p.Met301Leu)SNV Conflicting interpretations of pathogenicity 378921 rs786205818 17:68172081-68172081 17:70175940-70175940
17 KCNJ2 NM_000891.2(KCNJ2):c.261C>T (p.Ile87=)SNV Conflicting interpretations of pathogenicity 451647 rs1166497262 17:68171441-68171441 17:70175300-70175300
18 KCNJ2 NM_000891.2(KCNJ2):c.668T>G (p.Val223Gly)SNV Uncertain significance 468467 rs1555603969 17:68171848-68171848 17:70175707-70175707
19 KCNJ2 NM_000891.2(KCNJ2):c.1112C>A (p.Ala371Glu)SNV Uncertain significance 468462 rs780233256 17:68172292-68172292 17:70176151-70176151
20 KCNJ2 NM_000891.2(KCNJ2):c.410T>A (p.Ile137Asn)SNV Uncertain significance 468466 rs772055408 17:68171590-68171590 17:70175449-70175449
21 KCNJ2 NM_000891.2(KCNJ2):c.845T>G (p.Leu282Trp)SNV Uncertain significance 468468 rs758092571 17:68172025-68172025 17:70175884-70175884
22 KCNJ2 NM_000891.2(KCNJ2):c.119G>C (p.Arg40Pro)SNV Uncertain significance 403976 rs766143485 17:68171299-68171299 17:70175158-70175158
23 KCNJ2 NM_000891.2(KCNJ2):c.1091A>G (p.Lys364Arg)SNV Uncertain significance 403975 rs1060500054 17:68172271-68172271 17:70176130-70176130
24 KCNJ2 NM_000891.2(KCNJ2):c.416C>T (p.Thr139Ile)SNV Uncertain significance 403973 rs1060500052 17:68171596-68171596 17:70175455-70175455
25 KCNJ2 NM_000891.2(KCNJ2):c.208G>T (p.Ala70Ser)SNV Uncertain significance 403977 rs375605948 17:68171388-68171388 17:70175247-70175247
26 KCNJ2 NM_000891.2(KCNJ2):c.578T>A (p.Leu193His)SNV Uncertain significance 447638 rs1555603955 17:68171758-68171758 17:70175617-70175617
27 KCNJ2 NM_000891.2(KCNJ2):c.101A>G (p.Lys34Arg)SNV Uncertain significance 661299 17:68171281-68171281 17:70175140-70175140
28 KCNJ2 NM_000891.2(KCNJ2):c.158A>G (p.His53Arg)SNV Uncertain significance 640748 17:68171338-68171338 17:70175197-70175197
29 KCNJ2 NM_000891.2(KCNJ2):c.232G>C (p.Asp78His)SNV Uncertain significance 649015 17:68171412-68171412 17:70175271-70175271
30 KCNJ2 NM_000891.2(KCNJ2):c.259A>G (p.Ile87Val)SNV Uncertain significance 656328 17:68171439-68171439 17:70175298-70175298
31 KCNJ2 NM_000891.2(KCNJ2):c.299G>T (p.Gly100Val)SNV Uncertain significance 654361 17:68171479-68171479 17:70175338-70175338
32 KCNJ2 NM_000891.2(KCNJ2):c.557C>A (p.Pro186Gln)SNV Uncertain significance 652820 17:68171737-68171737 17:70175596-70175596
33 KCNJ2 NM_000891.2(KCNJ2):c.566G>C (p.Arg189Thr)SNV Uncertain significance 660794 17:68171746-68171746 17:70175605-70175605
34 KCNJ2 NM_000891.2(KCNJ2):c.569A>T (p.Asn190Ile)SNV Uncertain significance 642863 17:68171749-68171749 17:70175608-70175608
35 KCNJ2 NM_000891.2(KCNJ2):c.929A>G (p.Gln310Arg)SNV Uncertain significance 663978 17:68172109-68172109 17:70175968-70175968
36 KCNJ2 NM_000891.2(KCNJ2):c.1067G>T (p.Cys356Phe)SNV Uncertain significance 658326 17:68172247-68172247 17:70176106-70176106
37 KCNJ2 NM_000891.2(KCNJ2):c.973C>T (p.Arg325Cys)SNV Uncertain significance 190821 rs202067116 17:68172153-68172153 17:70176012-70176012
38 KCNJ2 NM_000891.2(KCNJ2):c.1045G>A (p.Glu349Lys)SNV Uncertain significance 190818 rs375330016 17:68172225-68172225 17:70176084-70176084
39 KCNJ2 NM_000891.2(KCNJ2):c.653G>T (p.Arg218Leu)SNV Uncertain significance 190813 rs199473384 17:68171833-68171833 17:70175692-70175692
40 KCNJ2 NM_000891.2(KCNJ2):c.616G>A (p.Gly206Ser)SNV Uncertain significance 281601 rs141035459 17:68171796-68171796 17:70175655-70175655
41 KCNJ2 NM_000891.2(KCNJ2):c.119G>A (p.Arg40Gln)SNV Uncertain significance 324830 rs766143485 17:68171299-68171299 17:70175158-70175158
42 KCNJ2 NM_000891.2(KCNJ2):c.1205C>T (p.Thr402Met)SNV Uncertain significance 518798 rs759070406 17:68172385-68172385 17:70176244-70176244
43 KCNJ2 NM_000891.2(KCNJ2):c.52G>A (p.Gly18Ser)SNV Uncertain significance 536360 rs947488726 17:68171232-68171232 17:70175091-70175091
44 KCNJ2 NM_000891.2(KCNJ2):c.326T>C (p.Leu109Pro)SNV Uncertain significance 566054 rs1567822991 17:68171506-68171506 17:70175365-70175365
45 KCNJ2 NM_000891.2(KCNJ2):c.1190G>A (p.Ser397Asn)SNV Uncertain significance 566184 rs1567823283 17:68172370-68172370 17:70176229-70176229
46 KCNJ2 NM_000891.2(KCNJ2):c.953A>G (p.Asn318Ser)SNV Uncertain significance 161257 rs367560052 17:68172133-68172133 17:70175992-70175992
47 KCNJ2 NM_000891.2(KCNJ2):c.1215C>T (p.Asp405=)SNV Likely benign 215774 rs863224374 17:68172395-68172395 17:70176254-70176254
48 KCNJ2 NM_000891.2(KCNJ2):c.324G>A (p.Leu108=)SNV Likely benign 468464 rs900684102 17:68171504-68171504 17:70175363-70175363
49 KCNJ2 NM_000891.2(KCNJ2):c.327C>T (p.Leu109=)SNV Likely benign 468465 rs140274795 17:68171507-68171507 17:70175366-70175366

UniProtKB/Swiss-Prot genetic disease variations for Short Qt Syndrome 3:

73
# Symbol AA change Variation ID SNP ID
1 KCNJ2 p.Asp172Asn VAR_023842 rs104894584

Expression for Short Qt Syndrome 3

Search GEO for disease gene expression data for Short Qt Syndrome 3.

Pathways for Short Qt Syndrome 3

GO Terms for Short Qt Syndrome 3

Sources for Short Qt Syndrome 3

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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