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

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 08-Dec-2022)

MalaCards based summary: Long Qt Syndrome 12, also known as lqt12, is related to cardiomyopathy, dilated, 3b and brugada syndrome 3, 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, heart-atrium and heart-ventricle, and related phenotypes are syncope and prolonged qtc interval

UniProtKB/Swiss-Prot: ⁷³ 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.

Disease Ontology: ¹¹ A long QT syndrome that has material basis in dominant inheritance of mutation in the SNTA1 gene on chromosome 20q11.21.

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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 68)

#	Related Disease	Score	Top Affiliating Genes
1	cardiomyopathy, dilated, 3b	10.1	SNTA1 CAV3
2	brugada syndrome 3	10.1	KCNE2 ANK2
3	cardiomyopathy, familial hypertrophic, 4	10.1	ANK2 AKAP9
4	progressive familial heart block, type ia	10.0	SCN5A ANK2
5	ventricular tachycardia, catecholaminergic polymorphic, 3	10.0	KCNJ2 ANK2
6	progressive familial heart block	10.0	SCN5A KCNQ1
7	familial periodic paralysis	10.0	SCN5A KCNJ2
8	paroxysmal extreme pain disorder	10.0	SCN5A SCN4B
9	cardiac conduction defect	9.9	SCN5A KCNQ1
10	paramyotonia congenita of von eulenburg	9.9	SCN5A KCNJ2
11	generalized epilepsy with febrile seizures plus	9.9	SCN5A SCN4B ANK2
12	muscular dystrophy, becker type	9.9	SNTA1 CAV3
13	second-degree atrioventricular block	9.8	SCN5A KCNH2
14	diamond-blackfan anemia 3	9.8	SCN5A KCNH2
15	hyperkalemic periodic paralysis	9.8	SCN5A KCNJ2
16	trichothiodystrophy 7, nonphotosensitive	9.8	SCN5A KCNH2
17	benign familial neonatal epilepsy	9.8	KCNQ1 KCNE1
18	brugada syndrome 1	9.8	SCN5A KCNH2
19	deafness, autosomal recessive 98	9.7	KCNQ1 KCNE2 KCNE1
20	right bundle branch block	9.7	SCN5A KCNH2
21	sick sinus syndrome	9.7	SCN5A KCNE1
22	first-degree atrioventricular block	9.6	SCN5A KCNJ2 KCNH2
23	syncope	9.6	SCN5A KCNQ1 KCNH2
24	developmental and epileptic encephalopathy 14	9.6	SCN5A KCNQ1 KCNH2
25	noonan syndrome with multiple lentigines	9.6	SCN5A KCNQ1 KCNH2
26	wolff-parkinson-white syndrome	9.6	SCN5A KCNQ1 KCNH2
27	cardiac arrest	9.6	SCN5A KCNQ1 KCNH2
28	familial short qt syndrome	9.6	KCNQ1 KCNJ2 KCNH2
29	congestive heart failure	9.6	SCN5A KCNQ1 KCNJ2 KCNE2
30	rasopathy	9.5	SCN5A KCNQ1 KCNH2
31	cardiomyopathy, familial hypertrophic, 1	9.4	SCN5A KCNQ1 KCNH2 CAV3
32	arrhythmogenic right ventricular cardiomyopathy	9.4	SCN5A KCNQ1 KCNH2 ANK2
33	long qt syndrome 15	9.4	SNTA1 SCN4B KCNJ2 KCNH2 AKAP9
34	brugada syndrome 4	9.3	SCN5A KCNQ1 KCNJ2 KCNH2
35	familial long qt syndrome	9.3	SCN5A KCNQ1 KCNH2 KCNE1
36	sudden infant death syndrome	9.1	SNTA1 SCN5A SCN4B KCNQ1 KCNH2 CAV3
37	hypokalemic periodic paralysis, type 1	9.1	SCN5A SCN4B KCNQ1 KCNJ2 KCNE1 CAV3
38	lipoprotein quantitative trait locus	9.1	SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2
39	ventricular fibrillation, paroxysmal familial, 1	9.1	SCN5A KCNQ1 KCNH2 KCNE2 KCNE1
40	long qt syndrome 14	9.1	SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
41	sinoatrial node disease	9.0	SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 ANK2
42	atrioventricular block	8.9	SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
43	heart disease	8.8	SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
44	long qt syndrome 10	8.7	SNTA1 SCN5A SCN4B KCNJ2 KCNE2 KCNE1
45	long qt syndrome 11	8.7	SNTA1 SCN4B KCNQ1 KCNJ2 KCNE2 KCNE1
46	third-degree atrioventricular block	8.7	SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
47	heart conduction disease	8.5	SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE2
48	short qt syndrome	8.5	SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE2
49	left ventricular noncompaction	8.4	SNTA1 SCN5A KCNQ1 KCNJ2 KCNH2 KCNE2
50	atrial fibrillation	8.4	SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2

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:

³⁰

#	Description	HPO Frequency	HPO Source Accession
1	syncope ³⁰	Very rare (1%)	HP:0001279
2	prolonged qtc interval ³⁰	Very rare (1%)	HP:0005184
3	ventricular fibrillation ³⁰		HP:0001663
4	torsade de pointes ³⁰		HP:0001664

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Cardiovascular Heart:
ventricular fibrillation
prolonged qt interval on electrocardiogram

Clinical features from OMIM®:

612955 (Updated 08-Dec-2022)

UMLS symptoms related to Long Qt Syndrome 12:

syncopal episode

MGI Mouse Phenotypes related to Long Qt Syndrome 12:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	muscle	MP:0005369	9.76	ANK2 CAV3 KCNE1 KCNH2 KCNJ2 KCNQ1
2	homeostasis/metabolism	MP:0005376	9.61	AKAP9 ANK2 CAV3 KCNE1 KCNE2 KCNH2
3	growth/size/body region	MP:0005378	9.28	AKAP9 ANK2 CAV3 KCNE1 KCNE2 KCNH2

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Drugs & Therapeutics for Long Qt Syndrome 12

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

Cochrane evidence based reviews: 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 ²⁸	SNTA1

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Anatomical Context for Long Qt Syndrome 12

Organs/tissues related to Long Qt Syndrome 12:

MalaCards : Heart

ODiseA: Heart-Atrium, Heart-Ventricle, 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. ⁵⁷ ⁵	Wu G...Vatta M	19684871	2008
2	Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex. ⁵⁷ ⁵	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. ⁶²	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. ⁶²	Tester DJ...Ackerman MJ	20920651	2010
6	Novel genes for QTc interval. How much heritability is explained, and how much is left to find? ⁶²	Jamshidi Y...Snieder H	20519034	2010
7	Congenital long-QT syndromes: a clinical and genetic update from infancy through adulthood. ⁶²	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):

(show all 11)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	SNTA1	Syntrophin Alpha 1	Protein Coding	1316.7	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	18591664
2	CAV3	Caveolin 3	Protein Coding	7.65	DISEASES inferred ¹⁴
3	SCN4B	Sodium Voltage-Gated Channel Beta Subunit 4	Protein Coding	7.64	DISEASES inferred ¹⁴
4	AKAP9	A-Kinase Anchoring Protein 9	Protein Coding	7.6	DISEASES inferred ¹⁴
5	KCNE2	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 2	Protein Coding	7.18	DISEASES inferred ¹⁴
6	ANK2	Ankyrin 2	Protein Coding	7.16	DISEASES inferred ¹⁴
7	SCN5A	Sodium Voltage-Gated Channel Alpha Subunit 5	Protein Coding	7.16	DISEASES inferred ¹⁴
8	KCNQ1	Potassium Voltage-Gated Channel Subfamily Q Member 1	Protein Coding	6.91	DISEASES inferred ¹⁴
9	KCNE1	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 1	Protein Coding	6.84	DISEASES inferred ¹⁴
10	KCNH2	Potassium Voltage-Gated Channel Subfamily H Member 2	Protein Coding	6.75	DISEASES inferred ¹⁴
11	KCNJ2	Potassium Inwardly Rectifying Channel Subfamily J Member 2	Protein Coding	6.72	DISEASES inferred ¹⁴

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Variations for Long Qt Syndrome 12

ClinVar genetic disease variations for Long Qt Syndrome 12:

⁵ (show top 50) (show all 76)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	SNTA1	NM_003098.3(SNTA1):c.1169C>T (p.Ala390Val)	SNV	Pathogenic	8476	rs121434500	GRCh37: 20:31998009-31998009 GRCh38: 20:33410203-33410203
2	SNTA1	NM_003098.3(SNTA1):c.221C>T (p.Pro74Leu)	SNV	Conflicting Interpretations Of Pathogenicity	263476	rs572545726	GRCh37: 20:32031206-32031206 GRCh38: 20:33443400-33443400
3	SNTA1	NM_003098.3(SNTA1):c.770C>G (p.Ala257Gly)	SNV	Conflicting Interpretations Of Pathogenicity	191548	rs56157422	GRCh37: 20:32000520-32000520 GRCh38: 20:33412714-33412714
4	SNTA1	NM_003098.3(SNTA1):c.1479C>T (p.Phe493=)	SNV	Uncertain Significance	338211	rs559827815	GRCh37: 20:31996352-31996352 GRCh38: 20:33408546-33408546
5	SNTA1	NM_003098.3(SNTA1):c.277G>A (p.Ala93Thr)	SNV	Uncertain Significance	338220	rs886056627	GRCh37: 20:32031150-32031150 GRCh38: 20:33443344-33443344
6	SNTA1	NM_003098.3(SNTA1):c.160G>C (p.Gly54Arg)	SNV	Uncertain Significance	190934	rs786205848	GRCh37: 20:32031267-32031267 GRCh38: 20:33443461-33443461
7	SNTA1	NM_003098.3(SNTA1):c.25C>T (p.Arg9Cys)	SNV	Uncertain Significance	264021	rs886039012	GRCh37: 20:32031402-32031402 GRCh38: 20:33443596-33443596
8	SNTA1	NM_003098.3(SNTA1):c.1255C>T (p.Arg419Cys)	SNV	Uncertain Significance	809246	rs375515058	GRCh37: 20:31996677-31996677 GRCh38: 20:33408871-33408871
9	SNTA1	NM_003098.3(SNTA1):c.101G>A (p.Ser34Asn)	SNV	Uncertain Significance	496194	rs963277918	GRCh37: 20:32031326-32031326 GRCh38: 20:33443520-33443520
10	SNTA1	NM_003098.3(SNTA1):c.459G>T (p.Gln153His)	SNV	Uncertain Significance	811698	rs1471172997	GRCh37: 20:32026684-32026684 GRCh38: 20:33438878-33438878
11	SNTA1	NM_003098.3(SNTA1):c.115G>A (p.Val39Met)	SNV	Uncertain Significance	894981	rs755986911	GRCh37: 20:32031312-32031312 GRCh38: 20:33443506-33443506
12	SNTA1	NM_003098.3(SNTA1):c.992G>A (p.Arg331His)	SNV	Uncertain Significance	190917	rs575431717	GRCh37: 20:32000150-32000150 GRCh38: 20:33412344-33412344
13	SNTA1	NM_003098.3(SNTA1):c.817C>T (p.Pro273Ser)	SNV	Uncertain Significance	897983	rs750459988	GRCh37: 20:32000473-32000473 GRCh38: 20:33412667-33412667
14	SNTA1	NM_003098.3(SNTA1):c.787G>T (p.Ala263Ser)	SNV	Uncertain Significance	190914	rs150576530	GRCh37: 20:32000503-32000503 GRCh38: 20:33412697-33412697
15	SNTA1	NM_003098.2(SNTA1):c.-186C>T	SNV	Uncertain Significance	338224	rs886056629	GRCh37: 20:32031612-32031612 GRCh38: 20:33443806-33443806
16	SNTA1	NM_003098.2(SNTA1):c.-262C>T	SNV	Uncertain Significance	338229	rs550104436	GRCh37: 20:32031688-32031688 GRCh38: 20:33443882-33443882
17	SNTA1	NM_003098.3(SNTA1):c.620G>A (p.Arg207Gln)	SNV	Uncertain Significance	264348	rs771180054	GRCh37: 20:32005606-32005606 GRCh38: 20:33417800-33417800
18	SNTA1	NM_003098.3(SNTA1):c.566C>T (p.Ser189Leu)	SNV	Uncertain Significance	263623	rs144860423	GRCh37: 20:32005660-32005660 GRCh38: 20:33417854-33417854
19	SNTA1	NM_003098.3(SNTA1):c.1442C>T (p.Ser481Leu)	SNV	Uncertain Significance	188145	rs370531842	GRCh37: 20:31996389-31996389 GRCh38: 20:33408583-33408583
20	SNTA1	NM_003098.3(SNTA1):c.312C>A (p.Gly104=)	SNV	Uncertain Significance	894980	rs533476140	GRCh37: 20:32026831-32026831 GRCh38: 20:33439025-33439025
21	SNTA1	NM_003098.3(SNTA1):c.210G>C (p.Pro70=)	SNV	Uncertain Significance	378629	rs751651742	GRCh37: 20:32031217-32031217 GRCh38: 20:33443411-33443411
22	SNTA1	NM_003098.3(SNTA1):c.1204C>T (p.Arg402Trp)	SNV	Uncertain Significance	203366	rs373387978	GRCh37: 20:31997974-31997974 GRCh38: 20:33410168-33410168
23	SNTA1	NM_003098.3(SNTA1):c.514G>A (p.Val172Ile)	SNV	Uncertain Significance	338218	rs775580363	GRCh37: 20:32005712-32005712 GRCh38: 20:33417906-33417906
24	SNTA1	NM_003098.2(SNTA1):c.-261C>A	SNV	Uncertain Significance	338228	rs536994978	GRCh37: 20:32031687-32031687 GRCh38: 20:33443881-33443881
25	SNTA1	NM_003098.3(SNTA1):c.1205G>A (p.Arg402Gln)	SNV	Uncertain Significance	338213	rs771369802	GRCh37: 20:31997973-31997973 GRCh38: 20:33410167-33410167
26	SNTA1	NM_003098.3(SNTA1):c.1238-13G>C	SNV	Uncertain Significance	338212	rs748801869	GRCh37: 20:31996707-31996707 GRCh38: 20:33408901-33408901
27	SNTA1	NM_003098.3(SNTA1):c.*6G>A	SNV	Uncertain Significance	338210	rs565582070	GRCh37: 20:31996307-31996307 GRCh38: 20:33408501-33408501
28	SNTA1	NM_003098.3(SNTA1):c.128G>A (p.Ser43Asn)	SNV	Uncertain Significance	190903	rs786205841	GRCh37: 20:32031299-32031299 GRCh38: 20:33443493-33443493
29	SNTA1	NM_003098.3(SNTA1):c.375G>C (p.Gln125His)	SNV	Uncertain Significance	191512	rs201421292	GRCh37: 20:32026768-32026768 GRCh38: 20:33438962-33438962
30	SNTA1	NM_003098.3(SNTA1):c.1504G>A (p.Gly502Arg)	SNV	Uncertain Significance	190927	rs768377696	GRCh37: 20:31996327-31996327 GRCh38: 20:33408521-33408521
31	SNTA1	NM_003098.3(SNTA1):c.1238-14T>C	SNV	Uncertain Significance	896365	rs369876616	GRCh37: 20:31996708-31996708 GRCh38: 20:33408902-33408902
32	SNTA1	NM_003098.3(SNTA1):c.651G>A (p.Leu217=)	SNV	Uncertain Significance	338217	rs886056626	GRCh37: 20:32005575-32005575 GRCh38: 20:33417769-33417769
33	SNTA1	NM_003098.3(SNTA1):c.1256G>A (p.Arg419His)	SNV	Uncertain Significance	190921	rs751302839	GRCh37: 20:31996676-31996676 GRCh38: 20:33408870-33408870
34	SNTA1	NM_003098.3(SNTA1):c.1181G>A (p.Arg394His)	SNV	Uncertain Significance	338214	rs750278583	GRCh37: 20:31997997-31997997 GRCh38: 20:33410191-33410191
35	SNTA1	NM_003098.3(SNTA1):c.-18G>A	SNV	Uncertain Significance	338221	rs886056628	GRCh37: 20:32031444-32031444 GRCh38: 20:33443638-33443638
36	SNTA1	NM_003098.3(SNTA1):c.*79C>A	SNV	Uncertain Significance	338209	rs78892511	GRCh37: 20:31996234-31996234 GRCh38: 20:33408428-33408428
37	SNTA1	NM_003098.3(SNTA1):c.1118G>A (p.Arg373His)	SNV	Uncertain Significance	338215	rs754648214	GRCh37: 20:31998060-31998060 GRCh38: 20:33410254-33410254
38	SNTA1	NM_003098.3(SNTA1):c.-96G>C	SNV	Uncertain Significance	338222	rs145471317	GRCh37: 20:32031522-32031522 GRCh38: 20:33443716-33443716
39	SNTA1	NM_003098.3(SNTA1):c.194A>G (p.Asn65Ser)	SNV	Uncertain Significance	431380	rs1135401951	GRCh37: 20:32031233-32031233 GRCh38: 20:33443427-33443427
40	SNTA1	NM_003098.3(SNTA1):c.1339C>T (p.Arg447Ter)	SNV	Uncertain Significance	560703	rs1187536758	GRCh37: 20:31996593-31996593 GRCh38: 20:33408787-33408787
41	SNTA1	NM_003098.3(SNTA1):c.526T>C (p.Phe176Leu)	SNV	Uncertain Significance	190909	rs781703999	GRCh37: 20:32005700-32005700 GRCh38: 20:33417894-33417894
42	SNTA1	NM_003098.3(SNTA1):c.1025C>G (p.Pro342Arg)	SNV	Uncertain Significance	896366	rs1989758393	GRCh37: 20:32000117-32000117 GRCh38: 20:33412311-33412311
43	SNTA1	NM_003098.3(SNTA1):c.-42G>A	SNV	Uncertain Significance	896422	rs921708182	GRCh37: 20:32031468-32031468 GRCh38: 20:33443662-33443662
44	SNTA1	NM_003098.3(SNTA1):c.-62C>T	SNV	Uncertain Significance	896423	rs1990639431	GRCh37: 20:32031488-32031488 GRCh38: 20:33443682-33443682
45	SNTA1	NM_003098.3(SNTA1):c.-70C>A	SNV	Uncertain Significance	896424	rs930437100	GRCh37: 20:32031496-32031496 GRCh38: 20:33443690-33443690
46	SNTA1	NM_003098.3(SNTA1):c.816G>T (p.Thr272=)	SNV	Uncertain Significance	897984	rs371028127	GRCh37: 20:32000474-32000474 GRCh38: 20:33412668-33412668
47	SNTA1	NM_003098.3(SNTA1):c.740T>G (p.Leu247Arg)	SNV	Uncertain Significance	897985	rs1989777102	GRCh37: 20:32000550-32000550 GRCh38: 20:33412744-33412744
48	SNTA1	NM_003098.3(SNTA1):c.*412G>C	SNV	Uncertain Significance	899048	rs566401281	GRCh37: 20:31995901-31995901 GRCh38: 20:33408095-33408095
49	SNTA1	NM_003098.3(SNTA1):c.*333G>A	SNV	Uncertain Significance	899049	rs1222182431	GRCh37: 20:31995980-31995980 GRCh38: 20:33408174-33408174
50	SNTA1	NM_003098.3(SNTA1):c.*231C>T	SNV	Uncertain Significance	899050	rs187657721	GRCh37: 20:31996082-31996082 GRCh38: 20:33408276-33408276

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

⁷³

#	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 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 2 - plateau phase 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	12.34	SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE2
2	Dopamine-DARPP32 Feedback onto cAMP Pathway ⁶⁴	12.09	KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1 AKAP9
3	L1CAM interactions ⁶⁶ Show member pathways CHL1 interactions ⁶⁶ Neurofascin interactions ⁶⁶ NrCAM interactions ⁶⁶ Recycling pathway of L1 ⁶⁶	11.89	SCN5A SCN4B ANK2
4	Sudden infant death syndrome (SIDS) susceptibility pathways ⁷⁴	11.83	CAV3 KCNH2 KCNQ1 SCN4B SCN5A SNTA1
5	Potassium Channels ⁶⁶ Show member pathways Ca2+ activated K+ channels ⁶⁶ HCN channels ⁶⁶ Voltage gated Potassium channels ⁶⁶	11.78	KCNQ1 KCNJ2 KCNH2
6	Interaction between L1 and Ankyrins ⁶⁶	11.04	SCN5A SCN4B ANK2
7	Phase 0 - rapid depolarisation ⁶⁶	10.99	SCN5A SCN4B
8	Antiarrhythmic Pathway, Pharmacodynamics ⁶⁰	10.97	SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE2
9	Genes targeted by miRNAs in adipocytes ⁷⁴	10.61	KCNQ1 KCNJ2 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	cell surface	GO:0009986	10.15	SCN5A KCNQ1 KCNH2 KCNE2 KCNE1 CAV3
2	lysosome	GO:0005764	10.11	KCNQ1 KCNE2 KCNE1 ANK2
3	membrane raft	GO:0045121	10.03	ANK2 CAV3 KCNE1 KCNQ1
4	Z disc	GO:0030018	9.92	ANK2 CAV3 KCNE1 SCN5A
5	sarcolemma	GO:0042383	9.86	SNTA1 SCN5A CAV3 ANK2
6	voltage-gated sodium channel complex	GO:0001518	9.8	SCN5A SCN4B
7	lateral plasma membrane	GO:0016328	9.8	SNTA1 SCN5A KCNQ1
8	dystrophin-associated glycoprotein complex	GO:0016010	9.78	SNTA1 CAV3
9	T-tubule	GO:0030315	9.76	SCN5A KCNJ2 CAV3 ANK2
10	intercalated disc	GO:0014704	9.65	ANK2 CAV3 KCNJ2 SCN4B SCN5A
11	potassium channel complex	GO:0034705	9.63	KCNQ1 AKAP9
12	voltage-gated potassium channel complex	GO:0008076	9.4	KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1 AKAP9

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

(show all 47)

#	Name	GO ID	Score	Top Affiliating Genes
1	potassium ion transmembrane transport	GO:0071805	10.28	KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
2	potassium ion import across plasma membrane	GO:1990573	10.18	KCNQ1 KCNJ2 KCNH2 KCNE2
3	cardiac muscle contraction	GO:0060048	10.17	SCN5A SCN4B KCNQ1 KCNH2
4	cellular response to xenobiotic stimulus	GO:0071466	10.14	KCNQ1 KCNH2 KCNE2
5	positive regulation of potassium ion transmembrane transport	GO:1901381	10.13	KCNQ1 KCNJ2 KCNH2 KCNE1
6	cellular response to cAMP	GO:0071320	10.12	AKAP9 KCNE1 KCNQ1
7	potassium ion export across plasma membrane	GO:0097623	10.11	KCNQ1 KCNH2 KCNE2 KCNE1
8	regulation of heart rate by cardiac conduction	GO:0086091	10.11	KCNE2 KCNE1 ANK2 AKAP9 KCNH2 KCNJ2
9	membrane repolarization during ventricular cardiac muscle cell action potential	GO:0098915	10.1	KCNE1 KCNE2 KCNH2 KCNQ1
10	regulation of potassium ion transmembrane transport	GO:1901379	10.09	KCNH2 KCNE2 KCNE1
11	membrane depolarization during cardiac muscle cell action potential	GO:0086012	10.09	SCN5A SCN4B KCNJ2
12	regulation of heart rate	GO:0002027	10.09	ANK2 CAV3 KCNQ1 SCN5A SNTA1
13	sodium ion transport	GO:0006814	10.08	SCN5A SCN4B KCNQ1
14	regulation of cardiac muscle cell contraction	GO:0086004	10.08	SCN5A KCNJ2 ANK2
15	monoatomic ion transport	GO:0006811	10.08	SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE2
16	atrial cardiac muscle cell action potential	GO:0086014	10.07	SCN5A KCNQ1 ANK2
17	cardiac muscle cell action potential involved in contraction	GO:0086002	10.07	KCNE1 KCNE2 KCNJ2 SCN4B SCN5A
18	membrane repolarization during cardiac muscle cell action potential	GO:0086013	10.06	KCNQ1 KCNJ2 KCNH2 KCNE1
19	potassium ion transport	GO:0006813	10.02	KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
20	membrane repolarization	GO:0086009	10.02	KCNQ1 KCNH2 KCNE2 KCNE1
21	regulation of membrane repolarization	GO:0060306	10.02	KCNQ1 KCNJ2 KCNH2 KCNE2 AKAP9
22	regulation of monoatomic ion transmembrane transport	GO:0034765	10.01	SCN5A SCN4B KCNQ1 KCNJ2 KCNH2 KCNE2
23	positive regulation of microtubule polymerization	GO:0031116	10	CAV3 AKAP9
24	potassium ion homeostasis	GO:0055075	10	KCNQ1 KCNH2
25	negative regulation of delayed rectifier potassium channel activity	GO:1902260	10	KCNE1 KCNE2 KCNQ1
26	regulation of cardiac muscle contraction	GO:0055117	9.99	CAV3 ANK2
27	regulation of sodium ion transmembrane transporter activity	GO:2000649	9.99	SCN4B CAV3
28	membrane depolarization during action potential	GO:0086010	9.99	SCN5A KCNH2
29	positive regulation of sodium ion transport	GO:0010765	9.99	SCN5A SCN4B
30	positive regulation of voltage-gated calcium channel activity	GO:1901387	9.98	KCNE2 KCNE1
31	negative regulation of potassium ion transmembrane transport	GO:1901380	9.98	CAV3 KCNH2
32	regulation of sodium ion transmembrane transport	GO:1902305	9.97	SNTA1 SCN5A
33	T-tubule organization	GO:0033292	9.97	CAV3 ANK2
34	regulation of cardiac muscle cell action potential involved in regulation of contraction	GO:0098909	9.97	CAV3 AKAP9
35	regulation of delayed rectifier potassium channel activity	GO:1902259	9.96	KCNE2 KCNE1
36	positive regulation of potassium ion transmembrane transporter activity	GO:1901018	9.96	ANK2 AKAP9
37	membrane repolarization during action potential	GO:0086011	9.96	KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
38	regulation of ventricular cardiac muscle cell membrane repolarization	GO:0060307	9.96	SNTA1 SCN5A SCN4B KCNQ1 KCNH2 KCNE2
39	regulation of ventricular cardiac muscle cell membrane depolarization	GO:0060373	9.95	SCN5A CAV3
40	regulation of atrial cardiac muscle cell membrane repolarization	GO:0060372	9.95	SCN5A KCNQ1
41	membrane depolarization during SA node cell action potential	GO:0086046	9.94	SCN5A ANK2
42	SA node cell action potential	GO:0086015	9.93	SCN5A ANK2
43	AV node cell action potential	GO:0086016	9.93	SCN5A SCN4B
44	regulation of calcium ion transmembrane transporter activity	GO:1901019	9.92	CAV3 ANK2
45	regulation of calcium ion transport	GO:0051924	9.88	CAV3 ANK2
46	negative regulation of voltage-gated potassium channel activity	GO:1903817	9.73	KCNE1 KCNE2 KCNQ1
47	ventricular cardiac muscle cell action potential	GO:0086005	9.53	ANK2 CAV3 KCNE1 KCNE2 KCNH2 KCNQ1

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

(show all 17)

#	Name	GO ID	Score	Top Affiliating Genes
1	scaffold protein binding	GO:0097110	10	SCN5A KCNQ1 KCNH2
2	potassium channel regulator activity	GO:0015459	9.97	AKAP9 KCNE1 KCNE2
3	sodium channel regulator activity	GO:0017080	9.95	SNTA1 SCN4B CAV3
4	voltage-gated potassium channel activity	GO:0005249	9.95	KCNQ1 KCNH2 KCNE2 KCNE1
5	inward rectifier potassium channel activity	GO:0005242	9.93	KCNJ2 KCNH2 KCNE2
6	delayed rectifier potassium channel activity	GO:0005251	9.92	KCNQ1 KCNH2 KCNE2 KCNE1
7	nitric-oxide synthase binding	GO:0050998	9.91	SNTA1 SCN5A CAV3
8	protein kinase A regulatory subunit binding	GO:0034237	9.87	KCNQ1 AKAP9
9	voltage-gated sodium channel activity	GO:0005248	9.86	SCN5A SCN4B
10	voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	GO:1902282	9.86	KCNQ1 KCNH2 KCNE2 KCNE1
11	voltage-gated sodium channel activity involved in cardiac muscle cell action potential	GO:0086006	9.81	SCN5A SCN4B
12	voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization	GO:0086008	9.76	KCNQ1 KCNJ2 KCNH2 KCNE1
13	monoatomic ion channel activity	GO:0005216	9.71	SCN5A KCNQ1 KCNH2
14	potassium channel activity	GO:0005267	9.67	KCNE1 KCNE2 KCNH2 KCNQ1
15	voltage-gated monoatomic ion channel activity	GO:0005244	9.61	KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN4B
16	transmembrane transporter binding	GO:0044325	9.58	SNTA1 SCN5A SCN4B KCNQ1 KCNE2 KCNE1
17	sodium channel activity	GO:0005272	9.55	SCN5A SCN4B

Sources

Sources for Long Qt Syndrome 12

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

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 Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

LQT12 MCID: LNG056 MIFTS: 42	Long Qt Syndrome 12 (LQT12) Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Muscle diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Long Qt Syndrome 12 (LQT12)

Aliases & Classifications for Long Qt Syndrome 12

MalaCards integrated aliases for Long Qt Syndrome 12:

Characteristics:

Inheritance:

OMIM®:

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

Cochrane evidence based reviews: long qt syndrome 12

Genetic Tests for Long Qt Syndrome 12

Genetic tests related to Long Qt Syndrome 12:

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

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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