MCID: LNG056
MIFTS: 35

Long Qt Syndrome 12

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Long Qt Syndrome 12

MalaCards integrated aliases for Long Qt Syndrome 12:

Name: Long Qt Syndrome 12 57 12 75 29 13 6 15 73
Lqt12 57 12 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
long qt syndrome 12:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 612955
Disease Ontology 12 DOID:0110653
ICD10 33 I45.8
MedGen 42 C2751830
MeSH 44 D008133
UMLS 73 C2751830

Summaries for Long Qt Syndrome 12

OMIM : 57 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 long qt syndrome 9 and brugada syndrome 1, 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 Cardiac conduction and Dopamine-DARPP32 Feedback onto cAMP Pathway. 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 : 75 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 32)
# Related Disease Score Top Affiliating Genes
1 long qt syndrome 9 10.0 SCN5A SNTA1
2 brugada syndrome 1 10.0 KCNH2 SCN5A
3 sick sinus syndrome 9.9 SCN5A SNTA1
4 catecholaminergic polymorphic ventricular tachycardia 9.8 KCNH2 SCN5A
5 familial short qt syndrome 9.6 KCNH2 KCNQ1
6 cardiac arrest 9.2 KCNQ1 SCN5A
7 long qt syndrome 13 9.2 KCNH2 KCNQ1 SCN5A
8 cardiac conduction defect 9.1 KCNH2 KCNQ1 SCN5A
9 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.1 KCNH2 KCNQ1 SCN5A
10 syncope 9.1 KCNH2 KCNQ1 SCN5A
11 left ventricular noncompaction 9.1 KCNQ1 SCN5A SNTA1
12 heart conduction disease 9.1 KCNH2 KCNQ1 SCN5A
13 timothy syndrome 9.0 KCNE1 KCNH2 KCNQ1
14 sudden infant death syndrome 8.6 KCNH2 KCNQ1 SCN5A SNTA1
15 andersen cardiodysrhythmic periodic paralysis 8.6 KCNE2 KCNH2 KCNQ1 SCN5A
16 dilated cardiomyopathy 8.4 KCNH2 KCNQ1 SCN5A
17 short qt syndrome 8.4 KCNE1 KCNE2 KCNH2 KCNQ1
18 heart disease 8.4 KCNE2 KCNH2 KCNQ1 SCN5A
19 long qt syndrome 3 7.9 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
20 long qt syndrome 5 7.9 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
21 ventricular fibrillation, paroxysmal familial, 1 7.9 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
22 long qt syndrome 6 7.9 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
23 jervell and lange-nielsen syndrome 1 7.9 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
24 cardiac arrhythmia 7.9 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
25 intrinsic cardiomyopathy 7.9 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
26 atrioventricular block 7.9 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
27 familial atrial fibrillation 7.9 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
28 atrial fibrillation 7.8 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
29 long qt syndrome 2 7.4 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A SNTA1
30 long qt syndrome 1 7.4 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A SNTA1
31 long qt syndrome 7.4 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A SNTA1
32 brugada syndrome 7.4 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

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
prolonged qt interval on electrocardiogram
ventricular fibrillation


Clinical features from OMIM:

612955

Human phenotypes related to Long Qt Syndrome 12:

32
# Description HPO Frequency HPO Source Accession
1 syncope 32 HP:0001279
2 ventricular fibrillation 32 HP:0001663
3 torsade de pointes 32 HP:0001664
4 prolonged qtc interval 32 HP:0005184

UMLS symptoms related to Long Qt Syndrome 12:


syncopal episode

MGI Mouse Phenotypes related to Long Qt Syndrome 12:

46
# 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 29 SNTA1

Anatomical Context for Long Qt Syndrome 12

MalaCards organs/tissues related to Long Qt Syndrome 12:

41
Heart

Publications for Long Qt Syndrome 12

Variations for Long Qt Syndrome 12

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

75
# 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 16)
# 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.770C> G (p.Ala257Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs56157422 GRCh37 Chromosome 20, 32000520: 32000520
4 SNTA1 NM_003098.2(SNTA1): c.770C> G (p.Ala257Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs56157422 GRCh38 Chromosome 20, 33412714: 33412714
5 SNTA1 NM_003098.2(SNTA1): c.375G> C (p.Gln125His) single nucleotide variant Uncertain significance rs201421292 GRCh37 Chromosome 20, 32026768: 32026768
6 SNTA1 NM_003098.2(SNTA1): c.375G> C (p.Gln125His) single nucleotide variant Uncertain significance rs201421292 GRCh38 Chromosome 20, 33438962: 33438962
7 SNTA1 NM_003098.2(SNTA1): c.1204C> T (p.Arg402Trp) single nucleotide variant Uncertain significance rs373387978 GRCh38 Chromosome 20, 33410168: 33410168
8 SNTA1 NM_003098.2(SNTA1): c.1204C> T (p.Arg402Trp) single nucleotide variant Uncertain significance rs373387978 GRCh37 Chromosome 20, 31997974: 31997974
9 SNTA1 NM_003098.2(SNTA1): c.566C> T (p.Ser189Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs144860423 GRCh37 Chromosome 20, 32005660: 32005660
10 SNTA1 NM_003098.2(SNTA1): c.566C> T (p.Ser189Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs144860423 GRCh38 Chromosome 20, 33417854: 33417854
11 SNTA1 NM_003098.2(SNTA1): c.620G> A (p.Arg207Gln) single nucleotide variant Uncertain significance rs771180054 GRCh37 Chromosome 20, 32005606: 32005606
12 SNTA1 NM_003098.2(SNTA1): c.620G> A (p.Arg207Gln) single nucleotide variant Uncertain significance rs771180054 GRCh38 Chromosome 20, 33417800: 33417800
13 SNTA1 NM_003098.2(SNTA1): c.221C> T (p.Pro74Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs572545726 GRCh37 Chromosome 20, 32031206: 32031206
14 SNTA1 NM_003098.2(SNTA1): c.221C> T (p.Pro74Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs572545726 GRCh38 Chromosome 20, 33443400: 33443400
15 SNTA1 NM_003098.2(SNTA1): c.194A> G (p.Asn65Ser) single nucleotide variant Uncertain significance rs1135401951 GRCh37 Chromosome 20, 32031233: 32031233
16 SNTA1 NM_003098.2(SNTA1): c.194A> G (p.Asn65Ser) single nucleotide variant Uncertain significance rs1135401951 GRCh38 Chromosome 20, 33443427: 33443427

Expression for Long Qt Syndrome 12

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

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 29)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.97 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
2 regulation of ion transmembrane transport GO:0034765 9.88 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
3 potassium ion transport GO:0006813 9.86 KCNE1 KCNE2 KCNH2 KCNQ1
4 potassium ion transmembrane transport GO:0071805 9.85 KCNE1 KCNE2 KCNH2 KCNQ1
5 transmembrane transport GO:0055085 9.82 KCNH2 KCNQ1 SCN5A
6 cellular response to drug GO:0035690 9.76 KCNE2 KCNH2 KCNQ1
7 regulation of membrane repolarization GO:0060306 9.76 KCNE1 KCNE2 KCNH2 KCNQ1
8 cardiac muscle contraction GO:0060048 9.75 KCNH2 KCNQ1 SCN5A
9 membrane repolarization GO:0086009 9.73 KCNE1 KCNE2 KCNH2 KCNQ1
10 cardiac conduction GO:0061337 9.72 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
11 regulation of potassium ion transmembrane transport GO:1901379 9.71 KCNE1 KCNE2 KCNH2
12 potassium ion export GO:0071435 9.71 KCNE1 KCNE2 KCNH2 KCNQ1
13 cardiac muscle cell action potential involved in contraction GO:0086002 9.7 KCNE1 KCNE2 SCN5A
14 positive regulation of potassium ion transmembrane transport GO:1901381 9.69 KCNE1 KCNH2 KCNQ1
15 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.67 KCNE1 KCNH2 KCNQ1
16 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.67 KCNE1 KCNE2 KCNH2 KCNQ1
17 cellular response to cAMP GO:0071320 9.64 KCNE1 KCNQ1
18 regulation of heart rate GO:0002027 9.63 SCN5A SNTA1
19 membrane depolarization during action potential GO:0086010 9.63 KCNH2 SCN5A
20 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.62 KCNE1 KCNE2
21 atrial cardiac muscle cell action potential GO:0086014 9.62 KCNQ1 SCN5A
22 regulation of sodium ion transmembrane transport GO:1902305 9.61 SCN5A SNTA1
23 regulation of delayed rectifier potassium channel activity GO:1902259 9.61 KCNE1 KCNE2
24 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.6 KCNQ1 SCN5A
25 potassium ion export across plasma membrane GO:0097623 9.59 KCNH2 KCNQ1
26 membrane repolarization during action potential GO:0086011 9.56 KCNE1 KCNE2 KCNH2 KCNQ1
27 regulation of heart rate by cardiac conduction GO:0086091 9.55 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
28 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.43 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A SNTA1
29 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 calmodulin binding GO:0005516 9.67 KCNQ1 SCN5A SNTA1
3 ion channel binding GO:0044325 9.67 KCNE2 KCNQ1 SCN5A SNTA1
4 potassium channel activity GO:0005267 9.62 KCNE1 KCNE2 KCNH2 KCNQ1
5 scaffold protein binding GO:0097110 9.61 KCNH2 KCNQ1 SCN5A
6 voltage-gated potassium channel activity GO:0005249 9.56 KCNE1 KCNE2 KCNH2 KCNQ1
7 potassium channel regulator activity GO:0015459 9.51 KCNE1 KCNE2
8 inward rectifier potassium channel activity GO:0005242 9.48 KCNE2 KCNH2
9 nitric-oxide synthase binding GO:0050998 9.46 SCN5A SNTA1
10 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.33 KCNE1 KCNH2 KCNQ1
11 delayed rectifier potassium channel activity GO:0005251 9.26 KCNE1 KCNE2 KCNH2 KCNQ1
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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