SQT3
MCID: SHR033
MIFTS: 21

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 57 75 29 6 73
Sqt3 57 75
Qt Syndrome, Short, Type 3 40
Short Qt Syndrome-3 13

Characteristics:

HPO:

32
short qt syndrome 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 609622
MedGen 42 C1865018
MeSH 44 D001145
UMLS 73 C1865018

Summaries for Short Qt Syndrome 3

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). (609622)

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

UniProtKB/Swiss-Prot : 75 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 9.9
2 atrial fibrillation 9.9

Symptoms & Phenotypes for Short Qt Syndrome 3

Clinical features from OMIM:

609622

Human phenotypes related to Short Qt Syndrome 3:

32
# Description HPO Frequency HPO Source Accession
1 tachycardia 32 HP:0001649
2 palpitations 32 HP:0001962
3 shortened qt interval 32 HP:0012232

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:

41
Heart, Skin, Eye

Publications for Short Qt Syndrome 3

Articles related to Short Qt Syndrome 3:

# Title Authors Year
1
KCNJ2 mutation in short QT syndrome 3 results in atrial fibrillation and ventricular proarrhythmia. ( 23440193 )
2013

Variations for Short Qt Syndrome 3

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

75
# Symbol AA change Variation ID SNP ID
1 KCNJ2 p.Asp172Asn VAR_023842 rs104894584

ClinVar genetic disease variations for Short Qt Syndrome 3:

6 (show top 50) (show all 92)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNJ2 NM_000891.2(KCNJ2): c.652C> T (p.Arg218Trp) single nucleotide variant Pathogenic rs104894578 GRCh37 Chromosome 17, 68171832: 68171832
2 KCNJ2 NM_000891.2(KCNJ2): c.652C> T (p.Arg218Trp) single nucleotide variant Pathogenic rs104894578 GRCh38 Chromosome 17, 70175691: 70175691
3 KCNJ2 NM_000891.2(KCNJ2): c.514G> A (p.Asp172Asn) single nucleotide variant Pathogenic rs104894584 GRCh37 Chromosome 17, 68171694: 68171694
4 KCNJ2 NM_000891.2(KCNJ2): c.514G> A (p.Asp172Asn) single nucleotide variant Pathogenic rs104894584 GRCh38 Chromosome 17, 70175553: 70175553
5 KCNJ2 NM_000891.2(KCNJ2): c.277G> A (p.Val93Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs147750704 GRCh37 Chromosome 17, 68171457: 68171457
6 KCNJ2 NM_000891.2(KCNJ2): c.277G> A (p.Val93Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs147750704 GRCh38 Chromosome 17, 70175316: 70175316
7 KCNJ2 NM_000891.2(KCNJ2): c.660C> T (p.Ser220=) single nucleotide variant Benign rs7221086 GRCh37 Chromosome 17, 68171840: 68171840
8 KCNJ2 NM_000891.2(KCNJ2): c.660C> T (p.Ser220=) single nucleotide variant Benign rs7221086 GRCh38 Chromosome 17, 70175699: 70175699
9 KCNJ2 NM_000891.2(KCNJ2): c.224C> T (p.Thr75Met) single nucleotide variant Pathogenic rs104894585 GRCh37 Chromosome 17, 68171404: 68171404
10 KCNJ2 NM_000891.2(KCNJ2): c.224C> T (p.Thr75Met) single nucleotide variant Pathogenic rs104894585 GRCh38 Chromosome 17, 70175263: 70175263
11 KCNJ2 NM_000891.2(KCNJ2): c.431G> A (p.Gly144Asp) single nucleotide variant Pathogenic rs199473377 GRCh37 Chromosome 17, 68171611: 68171611
12 KCNJ2 NM_000891.2(KCNJ2): c.431G> A (p.Gly144Asp) single nucleotide variant Pathogenic rs199473377 GRCh38 Chromosome 17, 70175470: 70175470
13 KCNJ2 NM_000891.2(KCNJ2): c.174C> T (p.Phe58=) single nucleotide variant Benign/Likely benign rs587781006 GRCh37 Chromosome 17, 68171354: 68171354
14 KCNJ2 NM_000891.2(KCNJ2): c.174C> T (p.Phe58=) single nucleotide variant Benign/Likely benign rs587781006 GRCh38 Chromosome 17, 70175213: 70175213
15 KCNJ2 NM_000891.2(KCNJ2): c.372C> T (p.Ser124=) single nucleotide variant Benign rs138877244 GRCh37 Chromosome 17, 68171552: 68171552
16 KCNJ2 NM_000891.2(KCNJ2): c.372C> T (p.Ser124=) single nucleotide variant Benign rs138877244 GRCh38 Chromosome 17, 70175411: 70175411
17 KCNJ2 NM_000891.2(KCNJ2): c.1035C> T (p.His345=) single nucleotide variant Benign rs201747514 GRCh37 Chromosome 17, 68172215: 68172215
18 KCNJ2 NM_000891.2(KCNJ2): c.1035C> T (p.His345=) single nucleotide variant Benign rs201747514 GRCh38 Chromosome 17, 70176074: 70176074
19 KCNJ2 NM_000891.2(KCNJ2): c.226T> G (p.Cys76Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs786205812 GRCh37 Chromosome 17, 68171406: 68171406
20 KCNJ2 NM_000891.2(KCNJ2): c.226T> G (p.Cys76Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs786205812 GRCh38 Chromosome 17, 70175265: 70175265
21 KCNJ2 NM_000891.2(KCNJ2): c.653G> T (p.Arg218Leu) single nucleotide variant Uncertain significance rs199473384 GRCh37 Chromosome 17, 68171833: 68171833
22 KCNJ2 NM_000891.2(KCNJ2): c.653G> T (p.Arg218Leu) single nucleotide variant Uncertain significance rs199473384 GRCh38 Chromosome 17, 70175692: 70175692
23 KCNJ2 NM_000891.2(KCNJ2): c.901A> G (p.Met301Val) single nucleotide variant Conflicting interpretations of pathogenicity rs786205818 GRCh37 Chromosome 17, 68172081: 68172081
24 KCNJ2 NM_000891.2(KCNJ2): c.901A> G (p.Met301Val) single nucleotide variant Conflicting interpretations of pathogenicity rs786205818 GRCh38 Chromosome 17, 70175940: 70175940
25 KCNJ2 NM_000891.2(KCNJ2): c.935G> A (p.Arg312His) single nucleotide variant Conflicting interpretations of pathogenicity rs786205820 GRCh37 Chromosome 17, 68172115: 68172115
26 KCNJ2 NM_000891.2(KCNJ2): c.935G> A (p.Arg312His) single nucleotide variant Conflicting interpretations of pathogenicity rs786205820 GRCh38 Chromosome 17, 70175974: 70175974
27 KCNJ2 NM_000891.2(KCNJ2): c.1045G> A (p.Glu349Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs375330016 GRCh37 Chromosome 17, 68172225: 68172225
28 KCNJ2 NM_000891.2(KCNJ2): c.1045G> A (p.Glu349Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs375330016 GRCh38 Chromosome 17, 70176084: 70176084
29 KCNJ2 NM_000891.2(KCNJ2): c.1229A> G (p.Asn410Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs141069645 GRCh37 Chromosome 17, 68172409: 68172409
30 KCNJ2 NM_000891.2(KCNJ2): c.1229A> G (p.Asn410Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs141069645 GRCh38 Chromosome 17, 70176268: 70176268
31 KCNJ2 NM_000891.2(KCNJ2): c.1215C> T (p.Asp405=) single nucleotide variant Likely benign rs863224374 GRCh37 Chromosome 17, 68172395: 68172395
32 KCNJ2 NM_000891.2(KCNJ2): c.1215C> T (p.Asp405=) single nucleotide variant Likely benign rs863224374 GRCh38 Chromosome 17, 70176254: 70176254
33 KCNJ2 NM_000891.2(KCNJ2): c.616G> A (p.Gly206Ser) single nucleotide variant Uncertain significance rs141035459 GRCh37 Chromosome 17, 68171796: 68171796
34 KCNJ2 NM_000891.2(KCNJ2): c.616G> A (p.Gly206Ser) single nucleotide variant Uncertain significance rs141035459 GRCh38 Chromosome 17, 70175655: 70175655
35 KCNJ2 NM_000891.2(KCNJ2): c.168T> C (p.Val56=) single nucleotide variant Conflicting interpretations of pathogenicity rs370111593 GRCh37 Chromosome 17, 68171348: 68171348
36 KCNJ2 NM_000891.2(KCNJ2): c.168T> C (p.Val56=) single nucleotide variant Conflicting interpretations of pathogenicity rs370111593 GRCh38 Chromosome 17, 70175207: 70175207
37 KCNJ2 NM_000891.2(KCNJ2): c.531C> T (p.Gly177=) single nucleotide variant Benign/Likely benign rs544384907 GRCh38 Chromosome 17, 70175570: 70175570
38 KCNJ2 NM_000891.2(KCNJ2): c.531C> T (p.Gly177=) single nucleotide variant Benign/Likely benign rs544384907 GRCh37 Chromosome 17, 68171711: 68171711
39 KCNJ2 NM_000891.2(KCNJ2): c.1254C> G (p.Pro418=) single nucleotide variant Likely benign rs748445140 GRCh37 Chromosome 17, 68172434: 68172434
40 KCNJ2 NM_000891.2(KCNJ2): c.1254C> G (p.Pro418=) single nucleotide variant Likely benign rs748445140 GRCh38 Chromosome 17, 70176293: 70176293
41 KCNJ2 NM_000891.2(KCNJ2): c.51C> T (p.Asp17=) single nucleotide variant Likely benign rs141965142 GRCh37 Chromosome 17, 68171231: 68171231
42 KCNJ2 NM_000891.2(KCNJ2): c.51C> T (p.Asp17=) single nucleotide variant Likely benign rs141965142 GRCh38 Chromosome 17, 70175090: 70175090
43 KCNJ2 NM_000891.2(KCNJ2): c.1044C> T (p.Tyr348=) single nucleotide variant Benign/Likely benign rs146330042 GRCh37 Chromosome 17, 68172224: 68172224
44 KCNJ2 NM_000891.2(KCNJ2): c.1044C> T (p.Tyr348=) single nucleotide variant Benign/Likely benign rs146330042 GRCh38 Chromosome 17, 70176083: 70176083
45 KCNJ2 NM_000891.2(KCNJ2): c.901A> C (p.Met301Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs786205818 GRCh37 Chromosome 17, 68172081: 68172081
46 KCNJ2 NM_000891.2(KCNJ2): c.901A> C (p.Met301Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs786205818 GRCh38 Chromosome 17, 70175940: 70175940
47 KCNJ2 NM_000891.2(KCNJ2): c.119G> C (p.Arg40Pro) single nucleotide variant Uncertain significance rs766143485 GRCh38 Chromosome 17, 70175158: 70175158
48 KCNJ2 NM_000891.2(KCNJ2): c.119G> C (p.Arg40Pro) single nucleotide variant Uncertain significance rs766143485 GRCh37 Chromosome 17, 68171299: 68171299
49 KCNJ2 NM_000891.2(KCNJ2): c.1091A> G (p.Lys364Arg) single nucleotide variant Uncertain significance rs1060500054 GRCh37 Chromosome 17, 68172271: 68172271
50 KCNJ2 NM_000891.2(KCNJ2): c.1091A> G (p.Lys364Arg) single nucleotide variant Uncertain significance rs1060500054 GRCh38 Chromosome 17, 70176130: 70176130

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

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74 UMLS via Orphanet
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