LQT12
MCID: LNG056
MIFTS: 35

Long Qt Syndrome 12 (LQT12)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Long Qt Syndrome 12

MalaCards integrated aliases for Long Qt Syndrome 12:

Name: Long Qt Syndrome 12 58 12 76 30 13 6 15 74
Lqt12 58 12 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
syncopal episodes
risk of sudden death due to cardiac arrhythmia


HPO:

33
long qt syndrome 12:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110653
OMIM 58 612955
MeSH 45 D008133
ICD10 34 I45.8
MedGen 43 C2751830
UMLS 74 C2751830

Summaries for Long Qt Syndrome 12

OMIM : 58 Congenital long QT syndrome (LQTS) is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death (Jongbloed et al., 1999). For a discussion of genetic heterogeneity of long QT syndrome, see LQT1 (192500). (612955)

MalaCards based summary : Long Qt Syndrome 12, also known as lqt12, is related to brugada syndrome 1 and long qt syndrome 9, and has symptoms including syncopal episode An important gene associated with Long Qt Syndrome 12 is SNTA1 (Syntrophin Alpha 1), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Cardiac conduction. Affiliated tissues include heart, and related phenotypes are syncope and ventricular fibrillation

Disease Ontology : 12 A long QT syndrome that has material basis in dominant inheritance of mutation in the SNTA1 gene on chromosome 20q11.21.

UniProtKB/Swiss-Prot : 76 Long QT syndrome 12: A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy.

Related Diseases for Long Qt Syndrome 12

Diseases in the Long Qt Syndrome family:

Long Qt Syndrome 1 Long Qt Syndrome 3
Long Qt Syndrome 9 Long Qt Syndrome 10
Long Qt Syndrome 11 Long Qt Syndrome 12
Long Qt Syndrome 13 Long Qt Syndrome 2
Long Qt Syndrome 6 Long Qt Syndrome 5
Long Qt Syndrome 14 Long Qt Syndrome 15

Diseases related to Long Qt Syndrome 12 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
# Related Disease Score Top Affiliating Genes
1 brugada syndrome 1 9.9 KCNH2 SCN5A
2 long qt syndrome 9 9.9 SCN5A SNTA1
3 third-degree atrioventricular block 9.9 KCNE2 SCN5A
4 sick sinus syndrome 9.9 SCN5A SNTA1
5 familial short qt syndrome 9.8 KCNH2 KCNQ1
6 catecholaminergic polymorphic ventricular tachycardia 9.7 KCNH2 SCN5A
7 benign neonatal seizures 9.7 KCNE2 KCNQ1
8 long qt syndrome 13 9.6 KCNH2 KCNQ1 SCN5A
9 cardiac conduction defect 9.6 KCNH2 KCNQ1 SCN5A
10 syncope 9.6 KCNH2 KCNQ1 SCN5A
11 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.6 KCNH2 KCNQ1 SCN5A
12 dilated cardiomyopathy 9.6 KCNH2 KCNQ1 SCN5A
13 left ventricular noncompaction 9.6 KCNQ1 SCN5A SNTA1
14 cardiac arrest 9.5 KCNH2 KCNQ1 SCN5A
15 timothy syndrome 9.5 KCNE1 KCNH2 KCNQ1
16 sudden infant death syndrome 9.3 KCNH2 KCNQ1 SCN5A SNTA1
17 short qt syndrome 9.2 KCNE1 KCNE2 KCNH2 KCNQ1
18 heart conduction disease 9.2 KCNE1 KCNH2 KCNQ1 SCN5A
19 heart disease 9.2 KCNE2 KCNH2 KCNQ1 SCN5A
20 long qt syndrome 3 9.0 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
21 long qt syndrome 5 9.0 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
22 jervell and lange-nielsen syndrome 1 9.0 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
23 ventricular fibrillation, paroxysmal familial, 1 9.0 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
24 long qt syndrome 6 9.0 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
25 cardiac arrhythmia 9.0 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
26 andersen cardiodysrhythmic periodic paralysis 9.0 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
27 atrioventricular block 9.0 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
28 intrinsic cardiomyopathy 9.0 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
29 familial atrial fibrillation 8.9 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
30 atrial fibrillation 8.9 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
31 long qt syndrome 1 8.7 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A SNTA1
32 long qt syndrome 8.7 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A SNTA1
33 long qt syndrome 2 8.7 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A SNTA1
34 brugada syndrome 8.7 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A SNTA1

Graphical network of the top 20 diseases related to Long Qt Syndrome 12:



Diseases related to Long Qt Syndrome 12

Symptoms & Phenotypes for Long Qt Syndrome 12

Human phenotypes related to Long Qt Syndrome 12:

33
# Description HPO Frequency HPO Source Accession
1 syncope 33 HP:0001279
2 ventricular fibrillation 33 HP:0001663
3 prolonged qtc interval 33 HP:0005184
4 torsade de pointes 33 HP:0001664

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
ventricular fibrillation
prolonged qt interval on electrocardiogram

Clinical features from OMIM:

612955

UMLS symptoms related to Long Qt Syndrome 12:


syncopal episode

MGI Mouse Phenotypes related to Long Qt Syndrome 12:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.92 KCNH2 KCNQ1 SCN5A SNTA1

Drugs & Therapeutics for Long Qt Syndrome 12

Search Clinical Trials , NIH Clinical Center for Long Qt Syndrome 12

Genetic Tests for Long Qt Syndrome 12

Genetic tests related to Long Qt Syndrome 12:

# Genetic test Affiliating Genes
1 Long Qt Syndrome 12 30 SNTA1

Anatomical Context for Long Qt Syndrome 12

MalaCards organs/tissues related to Long Qt Syndrome 12:

42
Heart

Publications for Long Qt Syndrome 12

Articles related to Long Qt Syndrome 12:

# Title Authors Year
1
alpha-1-syntrophin mutation and the long-QT syndrome: a disease of sodium channel disruption. ( 19684871 )
2008
2
Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex. ( 18591664 )
2008

Variations for Long Qt Syndrome 12

UniProtKB/Swiss-Prot genetic disease variations for Long Qt Syndrome 12:

76
# Symbol AA change Variation ID SNP ID
1 SNTA1 p.Ala257Gly VAR_062399 rs56157422
2 SNTA1 p.Ala390Val VAR_062400 rs121434500

ClinVar genetic disease variations for Long Qt Syndrome 12:

6 (show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 SNTA1 NM_003098.2(SNTA1): c.1169C> T (p.Ala390Val) single nucleotide variant Likely pathogenic rs121434500 GRCh37 Chromosome 20, 31998009: 31998009
2 SNTA1 NM_003098.2(SNTA1): c.1169C> T (p.Ala390Val) single nucleotide variant Likely pathogenic rs121434500 GRCh38 Chromosome 20, 33410203: 33410203
3 SNTA1 NM_003098.2(SNTA1): c.787G> T (p.Ala263Ser) single nucleotide variant Uncertain significance rs150576530 GRCh38 Chromosome 20, 33412697: 33412697
4 SNTA1 NM_003098.2(SNTA1): c.787G> T (p.Ala263Ser) single nucleotide variant Uncertain significance rs150576530 GRCh37 Chromosome 20, 32000503: 32000503
5 SNTA1 NM_003098.2(SNTA1): c.526T> C (p.Phe176Leu) single nucleotide variant Uncertain significance rs781703999 GRCh37 Chromosome 20, 32005700: 32005700
6 SNTA1 NM_003098.2(SNTA1): c.526T> C (p.Phe176Leu) single nucleotide variant Uncertain significance rs781703999 GRCh38 Chromosome 20, 33417894: 33417894
7 SNTA1 NM_003098.2(SNTA1): c.770C> G (p.Ala257Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs56157422 GRCh37 Chromosome 20, 32000520: 32000520
8 SNTA1 NM_003098.2(SNTA1): c.770C> G (p.Ala257Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs56157422 GRCh38 Chromosome 20, 33412714: 33412714
9 SNTA1 NM_003098.2(SNTA1): c.375G> C (p.Gln125His) single nucleotide variant Uncertain significance rs201421292 GRCh37 Chromosome 20, 32026768: 32026768
10 SNTA1 NM_003098.2(SNTA1): c.375G> C (p.Gln125His) single nucleotide variant Uncertain significance rs201421292 GRCh38 Chromosome 20, 33438962: 33438962
11 SNTA1 NM_003098.2(SNTA1): c.1204C> T (p.Arg402Trp) single nucleotide variant Uncertain significance rs373387978 GRCh38 Chromosome 20, 33410168: 33410168
12 SNTA1 NM_003098.2(SNTA1): c.1204C> T (p.Arg402Trp) single nucleotide variant Uncertain significance rs373387978 GRCh37 Chromosome 20, 31997974: 31997974
13 SNTA1 NM_003098.2(SNTA1): c.566C> T (p.Ser189Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs144860423 GRCh37 Chromosome 20, 32005660: 32005660
14 SNTA1 NM_003098.2(SNTA1): c.566C> T (p.Ser189Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs144860423 GRCh38 Chromosome 20, 33417854: 33417854
15 SNTA1 NM_003098.2(SNTA1): c.620G> A (p.Arg207Gln) single nucleotide variant Uncertain significance rs771180054 GRCh37 Chromosome 20, 32005606: 32005606
16 SNTA1 NM_003098.2(SNTA1): c.620G> A (p.Arg207Gln) single nucleotide variant Uncertain significance rs771180054 GRCh38 Chromosome 20, 33417800: 33417800
17 SNTA1 NM_003098.2(SNTA1): c.221C> T (p.Pro74Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs572545726 GRCh37 Chromosome 20, 32031206: 32031206
18 SNTA1 NM_003098.2(SNTA1): c.221C> T (p.Pro74Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs572545726 GRCh38 Chromosome 20, 33443400: 33443400
19 SNTA1 NM_003098.2(SNTA1): c.194A> G (p.Asn65Ser) single nucleotide variant Uncertain significance rs1135401951 GRCh37 Chromosome 20, 32031233: 32031233
20 SNTA1 NM_003098.2(SNTA1): c.194A> G (p.Asn65Ser) single nucleotide variant Uncertain significance rs1135401951 GRCh38 Chromosome 20, 33443427: 33443427
21 SNTA1 NM_003098.2(SNTA1): c.1339C> T (p.Arg447Ter) single nucleotide variant Uncertain significance GRCh37 Chromosome 20, 31996593: 31996593
22 SNTA1 NM_003098.2(SNTA1): c.1339C> T (p.Arg447Ter) single nucleotide variant Uncertain significance GRCh38 Chromosome 20, 33408787: 33408787
23 SNTA1 NM_003098.2(SNTA1): c.770C> T (p.Ala257Val) single nucleotide variant Likely benign GRCh38 Chromosome 20, 33412714: 33412714
24 SNTA1 NM_003098.2(SNTA1): c.770C> T (p.Ala257Val) single nucleotide variant Likely benign GRCh37 Chromosome 20, 32000520: 32000520

Expression for Long Qt Syndrome 12

Search GEO for disease gene expression data for Long Qt Syndrome 12.

Pathways for Long Qt Syndrome 12

Pathways related to Long Qt Syndrome 12 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.45 KCNE1 KCNQ1 SCN5A
2
Show member pathways
12.28 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
3 11.98 KCNE1 KCNE2 KCNH2 KCNQ1
4 11.77 KCNH2 KCNQ1 SCN5A SNTA1
5
Show member pathways
11.13 KCNE1 KCNE2 KCNQ1 SCN5A
6 10.77 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
7 10.65 KCNE1 KCNQ1

GO Terms for Long Qt Syndrome 12

Cellular components related to Long Qt Syndrome 12 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.73 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A SNTA1
2 Z disc GO:0030018 9.4 KCNE1 SCN5A
3 sarcolemma GO:0042383 9.37 SCN5A SNTA1
4 lysosome GO:0005764 9.33 KCNE1 KCNE2 KCNQ1
5 lateral plasma membrane GO:0016328 9.32 SCN5A SNTA1
6 cell surface GO:0009986 9.26 KCNE1 KCNE2 KCNH2 SCN5A
7 voltage-gated potassium channel complex GO:0008076 8.92 KCNE1 KCNE2 KCNH2 KCNQ1

Biological processes related to Long Qt Syndrome 12 according to GeneCards Suite gene sharing:

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.96 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
2 potassium ion transport GO:0006813 9.85 KCNE1 KCNE2 KCNH2 KCNQ1
3 potassium ion transmembrane transport GO:0071805 9.84 KCNE1 KCNE2 KCNH2 KCNQ1
4 regulation of ion transmembrane transport GO:0034765 9.83 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
5 transmembrane transport GO:0055085 9.81 KCNH2 KCNQ1 SCN5A
6 cellular response to drug GO:0035690 9.75 KCNE2 KCNH2 KCNQ1
7 cardiac muscle contraction GO:0060048 9.74 KCNH2 KCNQ1 SCN5A
8 potassium ion export across plasma membrane GO:0097623 9.71 KCNE1 KCNE2 KCNH2 KCNQ1
9 regulation of potassium ion transmembrane transport GO:1901379 9.7 KCNE1 KCNE2 KCNH2
10 cardiac muscle cell action potential involved in contraction GO:0086002 9.69 KCNE1 KCNE2 SCN5A
11 positive regulation of potassium ion transmembrane transport GO:1901381 9.67 KCNE1 KCNH2 KCNQ1
12 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.67 KCNE1 KCNE2 KCNH2 KCNQ1
13 regulation of membrane repolarization GO:0060306 9.65 KCNE2 KCNH2 KCNQ1
14 cellular response to cAMP GO:0071320 9.63 KCNE1 KCNQ1
15 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.63 KCNE1 KCNH2 KCNQ1
16 regulation of heart rate GO:0002027 9.62 SCN5A SNTA1
17 membrane depolarization during action potential GO:0086010 9.62 KCNH2 SCN5A
18 membrane repolarization GO:0086009 9.62 KCNE1 KCNE2 KCNH2 KCNQ1
19 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.61 KCNE1 KCNE2
20 atrial cardiac muscle cell action potential GO:0086014 9.61 KCNQ1 SCN5A
21 regulation of sodium ion transmembrane transport GO:1902305 9.6 SCN5A SNTA1
22 regulation of delayed rectifier potassium channel activity GO:1902259 9.59 KCNE1 KCNE2
23 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.58 KCNQ1 SCN5A
24 membrane repolarization during action potential GO:0086011 9.56 KCNE1 KCNE2 KCNH2 KCNQ1
25 regulation of heart rate by cardiac conduction GO:0086091 9.55 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
26 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.43 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A SNTA1
27 ventricular cardiac muscle cell action potential GO:0086005 9.1 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A SNTA1

Molecular functions related to Long Qt Syndrome 12 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.71 KCNE2 KCNH2 KCNQ1 SCN5A
2 potassium channel activity GO:0005267 9.67 KCNE1 KCNE2 KCNH2 KCNQ1
3 calmodulin binding GO:0005516 9.65 KCNQ1 SCN5A SNTA1
4 voltage-gated potassium channel activity GO:0005249 9.62 KCNE1 KCNE2 KCNH2 KCNQ1
5 scaffold protein binding GO:0097110 9.61 KCNH2 KCNQ1 SCN5A
6 potassium channel regulator activity GO:0015459 9.51 KCNE1 KCNE2
7 inward rectifier potassium channel activity GO:0005242 9.49 KCNE2 KCNH2
8 nitric-oxide synthase binding GO:0050998 9.46 SCN5A SNTA1
9 delayed rectifier potassium channel activity GO:0005251 9.46 KCNE1 KCNE2 KCNH2 KCNQ1
10 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.43 KCNE1 KCNH2 KCNQ1
11 ion channel binding GO:0044325 9.35 KCNE1 KCNE2 KCNQ1 SCN5A SNTA1
12 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 8.92 KCNE1 KCNE2 KCNH2 KCNQ1

Sources for Long Qt Syndrome 12

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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