Long Qt Syndrome 12 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Cardiovascular diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the circulatory system

Other forms of heart disease

Other conduction disorders

Other specified conduction disorders

External Ids:

OMIM ⁵⁷ 612955

Disease Ontology ¹² DOID:0110653

ICD10 ³³ I45.8

MedGen ⁴² C2751830

MeSH ⁴⁴ D008133

SNOMED-CT via HPO ⁶⁹ 263681008 271594007 272030005 more

UMLS ⁷³ C2751830

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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.

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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:

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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 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

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Drugs & Therapeutics for Long Qt Syndrome 12

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

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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

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Anatomical Context for Long Qt Syndrome 12

MalaCards organs/tissues related to Long Qt Syndrome 12:

⁴¹

Heart

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Publications for Long Qt Syndrome 12

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Genes for Long Qt Syndrome 12

Genes related to Long Qt Syndrome 12 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	SNTA1	Syntrophin Alpha 1	Protein Coding	928.35	Molecular basis known ⁵⁷ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)
2	KCNH2	Potassium Voltage-Gated Channel Subfamily H Member 2	Protein Coding	15.96	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	KCNE2	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 2	Protein Coding	15.91	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	KCNE1	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 1	Protein Coding	15.38	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	KCNQ1	Potassium Voltage-Gated Channel Subfamily Q Member 1	Protein Coding	14.91	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	SCN5A	Sodium Voltage-Gated Channel Alpha Subunit 5	Protein Coding	14.89	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)

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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

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Expression for Long Qt Syndrome 12

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

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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	Cardiac conduction ⁶⁶ Show member pathways Classical Kir channels ⁶⁶ Ion homeostasis ⁶⁶ Ion transport by P-type ATPases ⁶⁶ Muscle contraction ⁶⁶ Phase 1 - inactivation of fast Na+ channels ⁶⁶ Phase 3 - rapid repolarisation ⁶⁶ Phase 4 - resting membrane potential ⁶⁶ Physiological factors ⁶⁶ Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) ⁶⁶ Tandem pore domain halothane-inhibited K+ channel (THIK) ⁶⁶ Tandem pore domain potassium channels ⁶⁶ TWIK related potassium channel (TREK) ⁶⁶ TWIK-related alkaline pH activated K+ channel (TALK) ⁶⁶ TWIK-related spinal cord K+ channel (TRESK) ⁶⁶ TWIK-releated acid-sensitive K+ channel (TASK) ⁶⁶	12.28	KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
2	Dopamine-DARPP32 Feedback onto cAMP Pathway ⁶⁴	11.98	KCNE1 KCNE2 KCNH2 KCNQ1
3	Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways ¹	11.77	KCNH2 KCNQ1 SCN5A SNTA1
4	Phase 0 - rapid depolarisation ⁶⁶ Show member pathways Phase 2 - plateau phase ⁶⁶	11.13	KCNE1 KCNE2 KCNQ1 SCN5A
5	Antiarrhythmic Pathway, Pharmacodynamics ⁶¹	10.77	KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
6	TarBasePathway ¹	10.65	KCNE1 KCNQ1

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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

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Sources for Long Qt Syndrome 12

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

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⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

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¹⁴ DiseaseEnhancer

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¹⁶ DrugBank

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¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

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⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia