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

LQT12 MCID: LNG056 MIFTS: 41	Long Qt Syndrome 12 (LQT12) Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Muscle diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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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 ⁷² ²⁹ ¹³ ⁶ ¹⁵ ⁷⁰

Lqt12 ⁵⁷ ¹² ⁷²

Qt Syndrome, Long, Type 12 ³⁹

Characteristics:

OMIM®:

⁵⁷ (Updated 20-May-2021)

Inheritance:
autosomal dominant

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

HPO:

³¹

long qt syndrome 12:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Cardiovascular diseases Ear diseases Muscle diseases Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Diseases of the circulatory system

Other forms of heart disease

Other conduction disorders

Other specified conduction disorders

External Ids:

Disease Ontology ¹² DOID:0110653

OMIM® ⁵⁷ 612955

OMIM Phenotypic Series ⁵⁷ PS192500

MeSH ⁴⁴ D008133

ICD10 ³² I45.8

MedGen ⁴¹ C2751830

SNOMED-CT via HPO ⁶⁸ 263681008 271594007 272030005 more

UMLS ⁷⁰ 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) (Updated 20-May-2021)

MalaCards based summary : Long Qt Syndrome 12, also known as lqt12, is related to erythromelalgia and cardiac conduction defect, 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 cGMP-PKG signaling 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 : ⁷² 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
Long Qt Syndrome 8	Long Qt Syndrome 16
Familial Long Qt Syndrome

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

(show top 50) (show all 63)

#	Related Disease	Score	Top Affiliating Genes
1	erythromelalgia	10.0	SCN5A SCN4B
2	cardiac conduction defect	10.0	SCN5A KCNQ1
3	progressive familial heart block, type ia	9.9	SCN5A ANK2
4	brugada syndrome 3	9.9	KCNE2 ANK2
5	paroxysmal extreme pain disorder	9.9	SCN5A SCN4B
6	first-degree atrioventricular block	9.8	SCN5A KCNH2
7	sick sinus syndrome	9.8	SNTA1 SCN5A ANK2
8	third-degree atrioventricular block	9.8	SCN5A KCNH2
9	right bundle branch block	9.8	SCN5A KCNH2
10	familial short qt syndrome	9.8	KCNQ1 KCNH2
11	neuromuscular junction disease	9.8	SCN5A KCNH2
12	deafness, autosomal recessive 98	9.7	KCNQ1 KCNE2 KCNE1
13	malignant hyperthermia	9.7	SCN5A KCNH2 CAV3
14	brugada syndrome 1	9.7	SCN5A KCNH2 AKAP9
15	long qt syndrome 14	9.6	SCN5A KCNQ1 KCNH2
16	developmental and epileptic encephalopathy 14	9.6	SCN5A KCNQ1 KCNH2
17	brugada syndrome 4	9.6	SCN5A KCNQ1 KCNH2
18	syncope	9.6	SCN5A KCNQ1 KCNH2
19	cardiomyopathy, familial hypertrophic, 1	9.6	SCN5A KCNH2 CAV3
20	noonan syndrome with multiple lentigines	9.6	SCN5A KCNQ1 KCNH2
21	progressive familial heart block	9.6	SCN5A KCNQ1 KCNH2
22	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a	9.6	SCN5A KCNQ1 KCNH2
23	supravalvular aortic stenosis	9.5	SCN5A KCNH2
24	rasopathy	9.5	SCN5A KCNQ1 KCNH2
25	neuromuscular disease	9.5	SCN5A KCNH2 CAV3
26	early infantile epileptic encephalopathy	9.4	SCN5A SCN4B KCNQ1 KCNH2
27	sinoatrial node disease	9.3	SCN5A KCNQ1 KCNH2 ANK2
28	ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	9.3	SCN5A KCNQ1 KCNH2 ANK2
29	left ventricular noncompaction	9.2	SNTA1 SCN5A KCNQ1 KCNH2 KCNE1
30	ventricular fibrillation, paroxysmal familial, 1	9.1	SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
31	short qt syndrome	9.1	SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
32	myasthenic syndrome, congenital, 5	9.1	SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
33	atrioventricular block	9.1	SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
34	cardiac arrest	9.1	SCN5A KCNQ1 KCNH2 ANK2 AKAP9
35	arrhythmogenic right ventricular cardiomyopathy	9.1	SCN5A KCNH2 KCNE1 ANK2 AKAP9
36	lipoprotein quantitative trait locus	9.1	SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
37	cardiac arrhythmia	8.9	SCN5A KCNQ1 KCNH2 KCNE2 ANK2 AKAP9
38	congenital myasthenic syndrome	8.8	SNTA1 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
39	long qt syndrome 11	8.7	SNTA1 SCN4B KCNQ1 KCNE2 KCNE1 CAV3
40	heart disease	8.7	SCN5A KCNQ1 KCNH2 KCNE2 KCNE1 ANK2
41	sudden infant death syndrome	8.6	SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
42	long qt syndrome 10	8.5	SNTA1 SCN5A SCN4B KCNQ1 KCNE2 KCNE1
43	atrial fibrillation	8.4	SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
44	hypertrophic cardiomyopathy	8.4	SCN5A KCNQ1 KCNH2 KCNE2 KCNE1 CAV3
45	jervell and lange-nielsen syndrome 1	8.3	SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
46	familial atrial fibrillation	8.2	SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
47	long qt syndrome 13	8.2	SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
48	dilated cardiomyopathy	8.2	SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
49	long qt syndrome 1	8.1	SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
50	long qt syndrome	8.1	SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2

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

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Symptoms & Phenotypes for Long Qt Syndrome 12

Human phenotypes related to Long Qt Syndrome 12:

³¹

#	Description	HPO Source Accession
1	syncope ³¹	HP:0001279
2	ventricular fibrillation ³¹	HP:0001663
3	prolonged qtc interval ³¹	HP:0005184
4	torsade de pointes ³¹	HP:0001664

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 20-May-2021)

Cardiovascular Heart:
ventricular fibrillation
prolonged qt interval on electrocardiogram

Clinical features from OMIM®:

612955 (Updated 20-May-2021)

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	9.02	CAV3 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:

⁴⁰

Heart

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Publications for Long Qt Syndrome 12

Articles related to Long Qt Syndrome 12:

#	Title	Authors	PMID	Year
1	alpha-1-syntrophin mutation and the long-QT syndrome: a disease of sodium channel disruption. ⁶ ⁵⁷	Wu G...Vatta M	19684871	2008
2	Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex. ⁶ ⁵⁷	Ueda K...Makielski JC	18591664	2008
3	Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. ⁵⁷	Jongbloed RJ...Smeets HJ	10220144	1999
4	Postmortem Genetic Testing for Cardiac Ion Channelopathies in Stillbirths. ⁶¹	Munroe PB...Thayyil S	29874177	2018
5	Prevalence and spectrum of large deletions or duplications in the major long QT syndrome-susceptibility genes and implications for long QT syndrome genetic testing. ⁶¹	Tester DJ...Ackerman MJ	20920651	2010
6	Novel genes for QTc interval. How much heritability is explained, and how much is left to find? ⁶¹	Jamshidi Y...Snieder H	20519034	2010
7	Congenital long-QT syndromes: a clinical and genetic update from infancy through adulthood. ⁶¹	Webster G...Berul CI	19185812	2008

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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	PubMed IDs
1	SNTA1	Syntrophin Alpha 1	Protein Coding	1327.99	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	18591664
2	CAV3	Caveolin 3	Protein Coding	7.87	DISEASES inferred ¹⁵
3	SCN4B	Sodium Voltage-Gated Channel Beta Subunit 4	Protein Coding	7.86	DISEASES inferred ¹⁵
4	AKAP9	A-Kinase Anchoring Protein 9	Protein Coding	7.82	DISEASES inferred ¹⁵
5	SCN5A	Sodium Voltage-Gated Channel Alpha Subunit 5	Protein Coding	7.38	DISEASES inferred ¹⁵
6	KCNE2	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 2	Protein Coding	7.31	DISEASES inferred ¹⁵
7	KCNQ1	Potassium Voltage-Gated Channel Subfamily Q Member 1	Protein Coding	7.2	DISEASES inferred ¹⁵
8	ANK2	Ankyrin 2	Protein Coding	7.2	DISEASES inferred ¹⁵
9	KCNH2	Potassium Voltage-Gated Channel Subfamily H Member 2	Protein Coding	7.05	DISEASES inferred ¹⁵
10	KCNE1	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 1	Protein Coding	7.01	DISEASES inferred ¹⁵

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Variations for Long Qt Syndrome 12

ClinVar genetic disease variations for Long Qt Syndrome 12:

⁶ (show top 50) (show all 74)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	SNTA1	NM_003098.2(SNTA1):c.1169C>T (p.Ala390Val)	SNV	Pathogenic	8476	rs121434500	GRCh37: 20:31998009-31998009 GRCh38: 20:33410203-33410203
2	SNTA1	NM_003098.2(SNTA1):c.221C>T (p.Pro74Leu)	SNV	Conflicting interpretations of pathogenicity	263476	rs572545726	GRCh37: 20:32031206-32031206 GRCh38: 20:33443400-33443400
3	SNTA1	NM_003098.2(SNTA1):c.770C>G (p.Ala257Gly)	SNV	Conflicting interpretations of pathogenicity	191548	rs56157422	GRCh37: 20:32000520-32000520 GRCh38: 20:33412714-33412714
4	SNTA1	NM_003098.2(SNTA1):c.566C>T (p.Ser189Leu)	SNV	Conflicting interpretations of pathogenicity	263623	rs144860423	GRCh37: 20:32005660-32005660 GRCh38: 20:33417854-33417854
5	SNTA1	NM_003098.2(SNTA1):c.526T>C (p.Phe176Leu)	SNV	Uncertain significance	190909	rs781703999	GRCh37: 20:32005700-32005700 GRCh38: 20:33417894-33417894
6	SNTA1	NM_003098.3(SNTA1):c.459G>T (p.Gln153His)	SNV	Uncertain significance	811698	rs1471172997	GRCh37: 20:32026684-32026684 GRCh38: 20:33438878-33438878
7	SNTA1	NM_003098.2(SNTA1):c.128G>A (p.Ser43Asn)	SNV	Uncertain significance	190903	rs786205841	GRCh37: 20:32031299-32031299 GRCh38: 20:33443493-33443493
8	SNTA1	NM_003098.2(SNTA1):c.1504G>A (p.Gly502Arg)	SNV	Uncertain significance	190927		GRCh37: 20:31996327-31996327 GRCh38: 20:33408521-33408521
9	SNTA1	NM_003098.2(SNTA1):c.1442C>T (p.Ser481Leu)	SNV	Uncertain significance	188145	rs370531842	GRCh37: 20:31996389-31996389 GRCh38: 20:33408583-33408583
10	SNTA1	NM_003098.3(SNTA1):c.312C>A (p.Gly104=)	SNV	Uncertain significance	894980		GRCh37: 20:32026831-32026831 GRCh38: 20:33439025-33439025
11	SNTA1	NM_003098.2(SNTA1):c.210G>C (p.Pro70=)	SNV	Uncertain significance	378629	rs751651742	GRCh37: 20:32031217-32031217 GRCh38: 20:33443411-33443411
12	SNTA1	NM_003098.3(SNTA1):c.1025C>G (p.Pro342Arg)	SNV	Uncertain significance	896366		GRCh37: 20:32000117-32000117 GRCh38: 20:33412311-33412311
13	SNTA1	NM_003098.2(SNTA1):c.992G>A (p.Arg331His)	SNV	Uncertain significance	190917	rs575431717	GRCh37: 20:32000150-32000150 GRCh38: 20:33412344-33412344
14	SNTA1	NM_003098.3(SNTA1):c.-42G>A	SNV	Uncertain significance	896422		GRCh37: 20:32031468-32031468 GRCh38: 20:33443662-33443662
15	SNTA1	NM_003098.3(SNTA1):c.-62C>T	SNV	Uncertain significance	896423		GRCh37: 20:32031488-32031488 GRCh38: 20:33443682-33443682
16	SNTA1	NM_003098.3(SNTA1):c.-70C>A	SNV	Uncertain significance	896424		GRCh37: 20:32031496-32031496 GRCh38: 20:33443690-33443690
17	SNTA1	NM_003098.2(SNTA1):c.1204C>T (p.Arg402Trp)	SNV	Uncertain significance	203366	rs373387978	GRCh37: 20:31997974-31997974 GRCh38: 20:33410168-33410168
18	SNTA1	NM_003098.2(SNTA1):c.1256G>A (p.Arg419His)	SNV	Uncertain significance	190921	rs751302839	GRCh37: 20:31996676-31996676 GRCh38: 20:33408870-33408870
19	SNTA1	NM_003098.2(SNTA1):c.514G>A (p.Val172Ile)	SNV	Uncertain significance	338218	rs775580363	GRCh37: 20:32005712-32005712 GRCh38: 20:33417906-33417906
20	SNTA1	NM_003098.2(SNTA1):c.1181G>A (p.Arg394His)	SNV	Uncertain significance	338214	rs750278583	GRCh37: 20:31997997-31997997 GRCh38: 20:33410191-33410191
21	SNTA1	NM_003098.2(SNTA1):c.-261C>A	SNV	Uncertain significance	338228	rs536994978	GRCh37: 20:32031687-32031687 GRCh38: 20:33443881-33443881
22	SNTA1	NM_003098.2(SNTA1):c.277G>A (p.Ala93Thr)	SNV	Uncertain significance	338220	rs886056627	GRCh37: 20:32031150-32031150 GRCh38: 20:33443344-33443344
23	SNTA1	NM_003098.2(SNTA1):c.-18G>A	SNV	Uncertain significance	338221	rs886056628	GRCh37: 20:32031444-32031444 GRCh38: 20:33443638-33443638
24	SNTA1	NM_003098.2(SNTA1):c.*79C>A	SNV	Uncertain significance	338209	rs78892511	GRCh37: 20:31996234-31996234 GRCh38: 20:33408428-33408428
25	SNTA1	NM_003098.2(SNTA1):c.1205G>A (p.Arg402Gln)	SNV	Uncertain significance	338213	rs771369802	GRCh37: 20:31997973-31997973 GRCh38: 20:33410167-33410167
26	SNTA1	NM_003098.2(SNTA1):c.1118G>A (p.Arg373His)	SNV	Uncertain significance	338215	rs754648214	GRCh37: 20:31998060-31998060 GRCh38: 20:33410254-33410254
27	SNTA1	NM_003098.2(SNTA1):c.-96G>C	SNV	Uncertain significance	338222	rs145471317	GRCh37: 20:32031522-32031522 GRCh38: 20:33443716-33443716
28	SNTA1	NM_003098.2(SNTA1):c.1479C>T (p.Phe493=)	SNV	Uncertain significance	338211	rs559827815	GRCh37: 20:31996352-31996352 GRCh38: 20:33408546-33408546
29	SNTA1	NM_003098.2(SNTA1):c.1238-13G>C	SNV	Uncertain significance	338212	rs748801869	GRCh37: 20:31996707-31996707 GRCh38: 20:33408901-33408901
30	SNTA1	NM_003098.2(SNTA1):c.-262C>T	SNV	Uncertain significance	338229	rs550104436	GRCh37: 20:32031688-32031688 GRCh38: 20:33443882-33443882
31	SNTA1	NM_003098.2(SNTA1):c.-186C>T	SNV	Uncertain significance	338224	rs886056629	GRCh37: 20:32031612-32031612 GRCh38: 20:33443806-33443806
32	SNTA1	NM_003098.2(SNTA1):c.*6G>A	SNV	Uncertain significance	338210	rs565582070	GRCh37: 20:31996307-31996307 GRCh38: 20:33408501-33408501
33	SNTA1	NM_003098.2(SNTA1):c.620G>A (p.Arg207Gln)	SNV	Uncertain significance	264348	rs771180054	GRCh37: 20:32005606-32005606 GRCh38: 20:33417800-33417800
34	SNTA1	NM_003098.2(SNTA1):c.1339C>T (p.Arg447Ter)	SNV	Uncertain significance	560703	rs1187536758	GRCh37: 20:31996593-31996593 GRCh38: 20:33408787-33408787
35	SNTA1	NM_003098.2(SNTA1):c.787G>T (p.Ala263Ser)	SNV	Uncertain significance	190914	rs150576530	GRCh37: 20:32000503-32000503 GRCh38: 20:33412697-33412697
36	SNTA1	NM_003098.2(SNTA1):c.375G>C (p.Gln125His)	SNV	Uncertain significance	191512	rs201421292	GRCh37: 20:32026768-32026768 GRCh38: 20:33438962-33438962
37	SNTA1	NM_003098.2(SNTA1):c.194A>G (p.Asn65Ser)	SNV	Uncertain significance	431380	rs1135401951	GRCh37: 20:32031233-32031233 GRCh38: 20:33443427-33443427
38	SNTA1	NM_003098.2(SNTA1):c.651G>A (p.Leu217=)	SNV	Uncertain significance	338217	rs886056626	GRCh37: 20:32005575-32005575 GRCh38: 20:33417769-33417769
39	SNTA1	NM_003098.3(SNTA1):c.25C>T	SNV	Uncertain significance	264021	rs886039012	GRCh37: 20:32031402-32031402 GRCh38: 20:33443596-33443596
40	SNTA1	NM_003098.3(SNTA1):c.817C>T (p.Pro273Ser)	SNV	Uncertain significance	897983		GRCh37: 20:32000473-32000473 GRCh38: 20:33412667-33412667
41	SNTA1	NM_003098.3(SNTA1):c.816G>T (p.Thr272=)	SNV	Uncertain significance	897984		GRCh37: 20:32000474-32000474 GRCh38: 20:33412668-33412668
42	SNTA1	NM_003098.3(SNTA1):c.740T>G (p.Leu247Arg)	SNV	Uncertain significance	897985		GRCh37: 20:32000550-32000550 GRCh38: 20:33412744-33412744
43	SNTA1	NM_003098.3(SNTA1):c.*412G>C	SNV	Uncertain significance	899048		GRCh37: 20:31995901-31995901 GRCh38: 20:33408095-33408095
44	SNTA1	NM_003098.3(SNTA1):c.*333G>A	SNV	Uncertain significance	899049		GRCh37: 20:31995980-31995980 GRCh38: 20:33408174-33408174
45	SNTA1	NM_003098.3(SNTA1):c.*231C>T	SNV	Uncertain significance	899050		GRCh37: 20:31996082-31996082 GRCh38: 20:33408276-33408276
46	SNTA1	NM_003098.3(SNTA1):c.*132C>T	SNV	Uncertain significance	899051		GRCh37: 20:31996181-31996181 GRCh38: 20:33408375-33408375
47	SNTA1	NM_003098.3(SNTA1):c.115G>A (p.Val39Met)	SNV	Uncertain significance	894981		GRCh37: 20:32031312-32031312 GRCh38: 20:33443506-33443506
48	SNTA1	NM_003098.3(SNTA1):c.1238-14T>C	SNV	Uncertain significance	896365		GRCh37: 20:31996708-31996708 GRCh38: 20:33408902-33408902
49	SNTA1	NM_003098.3(SNTA1):c.538A>G (p.Thr180Ala)	SNV	Uncertain significance	899113		GRCh37: 20:32005688-32005688 GRCh38: 20:33417882-33417882
50	SNTA1	NM_003098.3(SNTA1):c.1287G>C (p.Lys429Asn)	SNV	Uncertain significance	1029668		GRCh37: 20:31996645-31996645 GRCh38: 20:33408839-33408839

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

⁷²

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

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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 ⁶⁵ Show member pathways Classical Kir channels ⁶⁵ Ion homeostasis ⁶⁵ Ion transport by P-type ATPases ⁶⁵ Muscle contraction ⁶⁵ Phase 1 - inactivation of fast Na+ channels ⁶⁵ Phase 3 - rapid repolarisation ⁶⁵ Phase 4 - resting membrane potential ⁶⁵ Physiological factors ⁶⁵ Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) ⁶⁵ Tandem pore domain halothane-inhibited K+ channel (THIK) ⁶⁵ Tandem pore domain potassium channels ⁶⁵ TWIK related potassium channel (TREK) ⁶⁵ TWIK-related alkaline pH activated K+ channel (TALK) ⁶⁵ TWIK-related spinal cord K+ channel (TRESK) ⁶⁵ TWIK-releated acid-sensitive K+ channel (TASK) ⁶⁵	12.49	SCN5A SCN4B KCNQ1 KCNH2 KCNE2 KCNE1
2	cGMP-PKG signaling pathway ³⁶ Show member pathways Adrenergic signaling in cardiomyocytes ³⁶	12.21	SCN5A SCN4B KCNQ1 KCNE1
3	Dopamine-DARPP32 Feedback onto cAMP Pathway ⁶³	12.08	KCNQ1 KCNH2 KCNE2 KCNE1 AKAP9
4	Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways ¹	11.94	SNTA1 SCN5A SCN4B KCNQ1 KCNH2 CAV3
5	L1CAM interactions ⁶⁵ Show member pathways CHL1 interactions ⁶⁵ Neurofascin interactions ⁶⁵ NrCAM interactions ⁶⁵	11.71	SCN5A SCN4B ANK2
6	Phase 0 - rapid depolarisation ⁶⁵ Show member pathways Phase 2 - plateau phase ⁶⁵	11.31	SCN5A SCN4B KCNQ1 KCNE2 KCNE1 AKAP9
7	Interaction between L1 and Ankyrins ⁶⁵	11.02	SCN5A SCN4B ANK2
8	Antiarrhythmic Pathway, Pharmacodynamics ⁶⁰	10.92	SCN5A SCN4B KCNQ1 KCNH2 KCNE2 KCNE1
9	TarBasePathway ¹	10.74	KCNQ1 KCNE1

Sources

GO Terms for Long Qt Syndrome 12

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

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	plasma membrane	GO:0005886	10.11	SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
2	lysosome	GO:0005764	9.78	KCNQ1 KCNE2 KCNE1 ANK2
3	cell surface	GO:0009986	9.77	SCN5A KCNH2 KCNE2 KCNE1 CAV3
4	membrane raft	GO:0045121	9.71	KCNQ1 KCNE1 CAV3 ANK2
5	lateral plasma membrane	GO:0016328	9.61	SNTA1 SCN5A KCNQ1
6	Z disc	GO:0030018	9.56	SCN5A KCNE1 CAV3 ANK2
7	dystrophin-associated glycoprotein complex	GO:0016010	9.51	SNTA1 CAV3
8	T-tubule	GO:0030315	9.5	SCN5A CAV3 ANK2
9	voltage-gated sodium channel complex	GO:0001518	9.49	SCN5A SCN4B
10	sarcolemma	GO:0042383	9.46	SNTA1 SCN5A CAV3 ANK2
11	intercalated disc	GO:0014704	9.26	SCN5A SCN4B CAV3 ANK2
12	voltage-gated potassium channel complex	GO:0008076	9.02	KCNQ1 KCNH2 KCNE2 KCNE1 AKAP9

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

(show all 46)

#	Name	GO ID	Score	Top Affiliating Genes
1	ion transport	GO:0006811	10.06	SCN5A SCN4B KCNQ1 KCNH2 KCNE2 KCNE1
2	regulation of ion transmembrane transport	GO:0034765	9.91	SCN5A SCN4B KCNQ1 KCNH2 KCNE2 KCNE1
3	potassium ion transport	GO:0006813	9.9	KCNQ1 KCNH2 KCNE2 KCNE1
4	potassium ion transmembrane transport	GO:0071805	9.89	KCNQ1 KCNH2 KCNE2 KCNE1
5	cardiac muscle contraction	GO:0060048	9.83	SCN5A SCN4B KCNQ1 KCNH2
6	cellular response to drug	GO:0035690	9.81	KCNQ1 KCNH2 KCNE2
7	regulation of heart rate	GO:0002027	9.81	SNTA1 SCN5A CAV3 ANK2
8	cardiac muscle cell action potential involved in contraction	GO:0086002	9.8	SCN5A SCN4B KCNE2 KCNE1
9	cellular response to cAMP	GO:0071320	9.79	KCNQ1 KCNE1 AKAP9
10	potassium ion export across plasma membrane	GO:0097623	9.78	KCNQ1 KCNH2 KCNE2 KCNE1
11	membrane repolarization during ventricular cardiac muscle cell action potential	GO:0098915	9.76	KCNQ1 KCNH2 KCNE2 KCNE1
12	regulation of heart rate by cardiac conduction	GO:0086091	9.76	SCN5A SCN4B KCNQ1 KCNH2 KCNE2 KCNE1
13	regulation of potassium ion transmembrane transport	GO:1901379	9.75	KCNH2 KCNE2 KCNE1
14	negative regulation of delayed rectifier potassium channel activity	GO:1902260	9.74	KCNQ1 KCNE2 KCNE1
15	positive regulation of potassium ion transmembrane transport	GO:1901381	9.73	KCNQ1 KCNH2 KCNE1
16	cardiac conduction	GO:0061337	9.73	SCN5A KCNQ1 KCNH2 KCNE2 KCNE1 AKAP9
17	membrane repolarization during cardiac muscle cell action potential	GO:0086013	9.72	KCNQ1 KCNH2 KCNE1
18	atrial cardiac muscle cell action potential	GO:0086014	9.71	SCN5A KCNQ1 ANK2
19	membrane repolarization	GO:0086009	9.71	KCNQ1 KCNH2 KCNE2 KCNE1
20	potassium ion import across plasma membrane	GO:1990573	9.7	KCNH2 KCNE2
21	regulation of heart contraction	GO:0008016	9.7	KCNQ1 CAV3
22	regulation of calcium ion transport	GO:0051924	9.69	CAV3 ANK2
23	positive regulation of microtubule polymerization	GO:0031116	9.69	CAV3 AKAP9
24	regulation of cardiac muscle contraction	GO:0055117	9.69	CAV3 ANK2
25	regulation of sodium ion transmembrane transporter activity	GO:2000649	9.68	SCN4B CAV3
26	membrane depolarization during action potential	GO:0086010	9.68	SCN5A KCNH2
27	positive regulation of sodium ion transport	GO:0010765	9.68	SCN5A SCN4B
28	regulation of cardiac muscle cell contraction	GO:0086004	9.68	SCN5A ANK2
29	membrane depolarization during cardiac muscle cell action potential	GO:0086012	9.67	SCN5A SCN4B
30	negative regulation of potassium ion transmembrane transport	GO:1901380	9.67	KCNH2 CAV3
31	T-tubule organization	GO:0033292	9.67	CAV3 ANK2
32	regulation of membrane repolarization	GO:0060306	9.67	KCNQ1 KCNH2 KCNE2 AKAP9
33	regulation of sodium ion transmembrane transport	GO:1902305	9.66	SNTA1 SCN5A
34	regulation of cardiac muscle cell action potential involved in regulation of contraction	GO:0098909	9.66	CAV3 AKAP9
35	regulation of delayed rectifier potassium channel activity	GO:1902259	9.65	KCNE2 KCNE1
36	regulation of ventricular cardiac muscle cell membrane depolarization	GO:0060373	9.65	SCN5A CAV3
37	negative regulation of voltage-gated potassium channel activity	GO:1903817	9.65	KCNQ1 KCNE2
38	positive regulation of potassium ion transmembrane transporter activity	GO:1901018	9.64	ANK2 AKAP9
39	regulation of atrial cardiac muscle cell membrane repolarization	GO:0060372	9.64	SCN5A KCNQ1
40	membrane depolarization during SA node cell action potential	GO:0086046	9.63	SCN5A ANK2
41	SA node cell action potential	GO:0086015	9.62	SCN5A ANK2
42	membrane repolarization during action potential	GO:0086011	9.62	KCNQ1 KCNH2 KCNE2 KCNE1
43	AV node cell action potential	GO:0086016	9.61	SCN5A SCN4B
44	regulation of calcium ion transmembrane transporter activity	GO:1901019	9.61	CAV3 ANK2
45	ventricular cardiac muscle cell action potential	GO:0086005	9.56	SNTA1 SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
46	regulation of ventricular cardiac muscle cell membrane repolarization	GO:0060307	9.32	SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2

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

(show all 18)

#	Name	GO ID	Score	Top Affiliating Genes
1	calmodulin binding	GO:0005516	9.74	SNTA1 SCN5A KCNQ1
2	ion channel activity	GO:0005216	9.72	SCN5A KCNQ1 KCNH2
3	potassium channel activity	GO:0005267	9.71	KCNQ1 KCNH2 KCNE2 KCNE1
4	scaffold protein binding	GO:0097110	9.67	SCN5A KCNQ1 KCNH2
5	voltage-gated potassium channel activity	GO:0005249	9.67	KCNQ1 KCNH2 KCNE2 KCNE1
6	potassium channel regulator activity	GO:0015459	9.65	KCNE2 KCNE1 AKAP9
7	sodium channel regulator activity	GO:0017080	9.63	SNTA1 SCN4B CAV3
8	nitric-oxide synthase binding	GO:0050998	9.61	SNTA1 SCN5A CAV3
9	sodium channel activity	GO:0005272	9.58	SCN5A SCN4B
10	protein kinase A regulatory subunit binding	GO:0034237	9.56	KCNQ1 AKAP9
11	delayed rectifier potassium channel activity	GO:0005251	9.56	KCNQ1 KCNH2 KCNE2 KCNE1
12	voltage-gated sodium channel activity	GO:0005248	9.54	SCN5A SCN4B
13	inward rectifier potassium channel activity	GO:0005242	9.52	KCNH2 KCNE2
14	voltage-gated sodium channel activity involved in cardiac muscle cell action potential	GO:0086006	9.51	SCN5A SCN4B
15	voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization	GO:0086008	9.5	KCNQ1 KCNH2 KCNE1
16	voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	GO:1902282	9.46	KCNQ1 KCNH2 KCNE2 KCNE1
17	voltage-gated ion channel activity	GO:0005244	9.43	SCN5A SCN4B KCNQ1 KCNH2 KCNE2 KCNE1
18	ion channel binding	GO:0044325	9.28	SNTA1 SCN5A SCN4B KCNQ1 KCNE2 KCNE1

Sources

Sources for Long Qt Syndrome 12

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Long Qt Syndrome 12 (LQT12)

Aliases & Classifications for Long Qt Syndrome 12

MalaCards integrated aliases for Long Qt Syndrome 12:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Long Qt Syndrome 12

Related Diseases for Long Qt Syndrome 12

Diseases in the Long Qt Syndrome family:

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

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

Symptoms & Phenotypes for Long Qt Syndrome 12

Human phenotypes related to Long Qt Syndrome 12:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Long Qt Syndrome 12:

MGI Mouse Phenotypes related to Long Qt Syndrome 12:

Drugs & Therapeutics for Long Qt Syndrome 12

Genetic Tests for Long Qt Syndrome 12

Genetic tests related to Long Qt Syndrome 12:

Anatomical Context for Long Qt Syndrome 12

MalaCards organs/tissues related to Long Qt Syndrome 12:

Publications for Long Qt Syndrome 12

Articles related to Long Qt Syndrome 12:

Genes for Long Qt Syndrome 12

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

Variations for Long Qt Syndrome 12

ClinVar genetic disease variations for Long Qt Syndrome 12:

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

Expression for Long Qt Syndrome 12

Pathways for Long Qt Syndrome 12

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

GO Terms for Long Qt Syndrome 12

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

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

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

Sources for Long Qt Syndrome 12