MCID: SHR033
MIFTS: 20

Short Qt Syndrome 3

Categories: Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Endocrine diseases, Fetal diseases, Oral diseases, Cardiovascular 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, 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 9.8
2 atrial fibrillation 9.8

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

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 68)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNJ2 NM_000891.2(KCNJ2): c.514G> A (p.Asp172Asn) single nucleotide variant Pathogenic rs104894584 GRCh37 Chromosome 17, 68171694: 68171694
2 KCNJ2 NM_000891.2(KCNJ2): c.514G> A (p.Asp172Asn) single nucleotide variant Pathogenic rs104894584 GRCh38 Chromosome 17, 70175553: 70175553
3 KCNJ2 NM_000891.2(KCNJ2): c.224C> T (p.Thr75Met) single nucleotide variant Pathogenic rs104894585 GRCh37 Chromosome 17, 68171404: 68171404
4 KCNJ2 NM_000891.2(KCNJ2): c.224C> T (p.Thr75Met) single nucleotide variant Pathogenic rs104894585 GRCh38 Chromosome 17, 70175263: 70175263
5 KCNJ2 NM_000891.2(KCNJ2): c.431G> A (p.Gly144Asp) single nucleotide variant Pathogenic rs199473377 GRCh37 Chromosome 17, 68171611: 68171611
6 KCNJ2 NM_000891.2(KCNJ2): c.431G> A (p.Gly144Asp) single nucleotide variant Pathogenic rs199473377 GRCh38 Chromosome 17, 70175470: 70175470
7 KCNJ2 NM_000891.2(KCNJ2): c.226T> G (p.Cys76Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs786205812 GRCh37 Chromosome 17, 68171406: 68171406
8 KCNJ2 NM_000891.2(KCNJ2): c.226T> G (p.Cys76Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs786205812 GRCh38 Chromosome 17, 70175265: 70175265
9 KCNJ2 NM_000891.2(KCNJ2): c.653G> T (p.Arg218Leu) single nucleotide variant Uncertain significance rs199473384 GRCh37 Chromosome 17, 68171833: 68171833
10 KCNJ2 NM_000891.2(KCNJ2): c.653G> T (p.Arg218Leu) single nucleotide variant Uncertain significance rs199473384 GRCh38 Chromosome 17, 70175692: 70175692
11 KCNJ2 NM_000891.2(KCNJ2): c.935G> A (p.Arg312His) single nucleotide variant Conflicting interpretations of pathogenicity rs786205820 GRCh37 Chromosome 17, 68172115: 68172115
12 KCNJ2 NM_000891.2(KCNJ2): c.935G> A (p.Arg312His) single nucleotide variant Conflicting interpretations of pathogenicity rs786205820 GRCh38 Chromosome 17, 70175974: 70175974
13 KCNJ2 NM_000891.2(KCNJ2): c.1229A> G (p.Asn410Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs141069645 GRCh37 Chromosome 17, 68172409: 68172409
14 KCNJ2 NM_000891.2(KCNJ2): c.1229A> G (p.Asn410Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs141069645 GRCh38 Chromosome 17, 70176268: 70176268
15 KCNJ2 NM_000891.2(KCNJ2): c.1215C> T (p.Asp405=) single nucleotide variant Likely benign rs863224374 GRCh37 Chromosome 17, 68172395: 68172395
16 KCNJ2 NM_000891.2(KCNJ2): c.1215C> T (p.Asp405=) single nucleotide variant Likely benign rs863224374 GRCh38 Chromosome 17, 70176254: 70176254
17 KCNJ2 NM_000891.2(KCNJ2): c.616G> A (p.Gly206Ser) single nucleotide variant Uncertain significance rs141035459 GRCh37 Chromosome 17, 68171796: 68171796
18 KCNJ2 NM_000891.2(KCNJ2): c.616G> A (p.Gly206Ser) single nucleotide variant Uncertain significance rs141035459 GRCh38 Chromosome 17, 70175655: 70175655
19 KCNJ2 NM_000891.2(KCNJ2): c.168T> C (p.Val56=) single nucleotide variant Conflicting interpretations of pathogenicity rs370111593 GRCh37 Chromosome 17, 68171348: 68171348
20 KCNJ2 NM_000891.2(KCNJ2): c.168T> C (p.Val56=) single nucleotide variant Conflicting interpretations of pathogenicity rs370111593 GRCh38 Chromosome 17, 70175207: 70175207
21 KCNJ2 NM_000891.2(KCNJ2): c.531C> T (p.Gly177=) single nucleotide variant Benign/Likely benign rs544384907 GRCh38 Chromosome 17, 70175570: 70175570
22 KCNJ2 NM_000891.2(KCNJ2): c.531C> T (p.Gly177=) single nucleotide variant Benign/Likely benign rs544384907 GRCh37 Chromosome 17, 68171711: 68171711
23 KCNJ2 NM_000891.2(KCNJ2): c.1254C> G (p.Pro418=) single nucleotide variant Likely benign rs748445140 GRCh37 Chromosome 17, 68172434: 68172434
24 KCNJ2 NM_000891.2(KCNJ2): c.1254C> G (p.Pro418=) single nucleotide variant Likely benign rs748445140 GRCh38 Chromosome 17, 70176293: 70176293
25 KCNJ2 NM_000891.2(KCNJ2): c.51C> T (p.Asp17=) single nucleotide variant Likely benign rs141965142 GRCh37 Chromosome 17, 68171231: 68171231
26 KCNJ2 NM_000891.2(KCNJ2): c.51C> T (p.Asp17=) single nucleotide variant Likely benign rs141965142 GRCh38 Chromosome 17, 70175090: 70175090
27 KCNJ2 NM_000891.2(KCNJ2): c.1044C> T (p.Tyr348=) single nucleotide variant Benign/Likely benign rs146330042 GRCh37 Chromosome 17, 68172224: 68172224
28 KCNJ2 NM_000891.2(KCNJ2): c.1044C> T (p.Tyr348=) single nucleotide variant Benign/Likely benign rs146330042 GRCh38 Chromosome 17, 70176083: 70176083
29 KCNJ2 NM_000891.2(KCNJ2): c.901A> C (p.Met301Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs786205818 GRCh37 Chromosome 17, 68172081: 68172081
30 KCNJ2 NM_000891.2(KCNJ2): c.901A> C (p.Met301Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs786205818 GRCh38 Chromosome 17, 70175940: 70175940
31 KCNJ2 NM_000891.2(KCNJ2): c.119G> C (p.Arg40Pro) single nucleotide variant Uncertain significance rs766143485 GRCh38 Chromosome 17, 70175158: 70175158
32 KCNJ2 NM_000891.2(KCNJ2): c.119G> C (p.Arg40Pro) single nucleotide variant Uncertain significance rs766143485 GRCh37 Chromosome 17, 68171299: 68171299
33 KCNJ2 NM_000891.2(KCNJ2): c.1091A> G (p.Lys364Arg) single nucleotide variant Uncertain significance rs1060500054 GRCh37 Chromosome 17, 68172271: 68172271
34 KCNJ2 NM_000891.2(KCNJ2): c.1091A> G (p.Lys364Arg) single nucleotide variant Uncertain significance rs1060500054 GRCh38 Chromosome 17, 70176130: 70176130
35 KCNJ2 NM_000891.2(KCNJ2): c.416C> T (p.Thr139Ile) single nucleotide variant Uncertain significance rs1060500052 GRCh38 Chromosome 17, 70175455: 70175455
36 KCNJ2 NM_000891.2(KCNJ2): c.416C> T (p.Thr139Ile) single nucleotide variant Uncertain significance rs1060500052 GRCh37 Chromosome 17, 68171596: 68171596
37 KCNJ2 NM_000891.2(KCNJ2): c.96C> T (p.Asn32=) single nucleotide variant Benign rs67120636 GRCh38 Chromosome 17, 70175135: 70175135
38 KCNJ2 NM_000891.2(KCNJ2): c.96C> T (p.Asn32=) single nucleotide variant Benign rs67120636 GRCh37 Chromosome 17, 68171276: 68171276
39 KCNJ2 NM_000891.2(KCNJ2): c.208G> T (p.Ala70Ser) single nucleotide variant Uncertain significance rs375605948 GRCh38 Chromosome 17, 70175247: 70175247
40 KCNJ2 NM_000891.2(KCNJ2): c.208G> T (p.Ala70Ser) single nucleotide variant Uncertain significance rs375605948 GRCh37 Chromosome 17, 68171388: 68171388
41 KCNJ2 NM_000891.2(KCNJ2): c.276C> T (p.Phe92=) single nucleotide variant Likely benign rs556248547 GRCh38 Chromosome 17, 70175315: 70175315
42 KCNJ2 NM_000891.2(KCNJ2): c.276C> T (p.Phe92=) single nucleotide variant Likely benign rs556248547 GRCh37 Chromosome 17, 68171456: 68171456
43 KCNJ2 NM_000891.2(KCNJ2): c.261C> T (p.Ile87=) single nucleotide variant Conflicting interpretations of pathogenicity GRCh38 Chromosome 17, 70175300: 70175300
44 KCNJ2 NM_000891.2(KCNJ2): c.261C> T (p.Ile87=) single nucleotide variant Conflicting interpretations of pathogenicity GRCh37 Chromosome 17, 68171441: 68171441
45 KCNJ2 NM_000891.2(KCNJ2): c.668T> G (p.Val223Gly) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 70175707: 70175707
46 KCNJ2 NM_000891.2(KCNJ2): c.668T> G (p.Val223Gly) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 68171848: 68171848
47 KCNJ2 NM_000891.2(KCNJ2): c.1002G> A (p.Lys334=) single nucleotide variant Likely benign rs372264881 GRCh37 Chromosome 17, 68172182: 68172182
48 KCNJ2 NM_000891.2(KCNJ2): c.1002G> A (p.Lys334=) single nucleotide variant Likely benign rs372264881 GRCh38 Chromosome 17, 70176041: 70176041
49 KCNJ2 NM_000891.2(KCNJ2): c.1112C> A (p.Ala371Glu) single nucleotide variant Uncertain significance rs780233256 GRCh38 Chromosome 17, 70176151: 70176151
50 KCNJ2 NM_000891.2(KCNJ2): c.1112C> A (p.Ala371Glu) single nucleotide variant Uncertain significance rs780233256 GRCh37 Chromosome 17, 68172292: 68172292

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
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10 dbSNP
11 DGIdb
17 ExPASy
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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