Long Qt Syndrome 14 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

Aliases & Classifications for Long Qt Syndrome 14

MalaCards integrated aliases for Long Qt Syndrome 14:

Name: Long Qt Syndrome 14 ⁵⁷ ¹¹ ⁷³ ²⁸ ⁵ ¹⁴ ⁷¹

Lqt14 ⁵⁷ ¹¹ ⁷³

Long Qt Syndrome, Type 14 ³⁸

Characteristics:

Inheritance:

Autosomal dominant ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
some patients have onset at birth or in early infancy, whereas other have onset in late childhood or adolescence
some patients experience neurologic sequelae (seizures or developmental delay) after multiple episodes of cardiac arrest
in some patients, qtc interval is prolonged only during exercise testing

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³¹

Diseases of the circulatory system

Other forms of heart disease

Other conduction disorders

Other specified conduction disorders

External Ids:

Disease Ontology ¹¹ DOID:0110655

OMIM® ⁵⁷ 616247

OMIM Phenotypic Series ⁵⁷ PS192500

MeSH ⁴³ D008133

ICD10 ³¹ I45.8

MedGen ⁴⁰ C4015671 CN228133

SNOMED-CT via HPO ⁶⁹ 111975006 26636000 397829000 more

UMLS ⁷¹ C4015671

Sources

Summaries for Long Qt Syndrome 14

OMIM®: ⁵⁷ LQT14 is a cardiac arrhythmia disorder characterized by ventricular arrhythmias, often life-threatening, occurring very early in life, frequent episodes of T-wave alternans, markedly prolonged QTc intervals, and intermittent 2:1 atrioventricular block (Crotti et al., 2013). Patients with LQT14, LQT15 (616249), or LQT16 (618782), resulting from mutation in calmodulin genes CALM1, CALM2 (114182), or CALM3 (114183), respectively, typically have a more severe phenotype, with earlier onset, profound QT prolongation, and a high predilection for cardiac arrest and sudden death, than patients with mutations in other genes (Boczek et al., 2016). (616247) (Updated 08-Dec-2022)

MalaCards based summary: Long Qt Syndrome 14, also known as lqt14, is related to long qt syndrome 15 and flying phobia. An important gene associated with Long Qt Syndrome 14 is CALM1 (Calmodulin 1), and among its related pathways/superpathways are Transmission across Chemical Synapses and G-Beta Gamma Signaling. Affiliated tissues include heart and heart-ventricle, and related phenotypes are cardiac arrest and ventricular fibrillation

UniProtKB/Swiss-Prot: ⁷³ A form of long QT syndrome, 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 CALM1 gene on chromosome 14q32.11.

Sources

Related Diseases for Long Qt Syndrome 14

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 14 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 63)

#	Related Disease	Score	Top Affiliating Genes
1	long qt syndrome 15	29.7	TRDN TECRL SNTA1 SCN4B KCNJ2 KCNH2
2	flying phobia	10.2	CALM3 CALM1
3	ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	10.1	TRDN CALM1
4	second-degree atrioventricular block	10.0	SCN5A KCNH2
5	trichothiodystrophy 7, nonphotosensitive	10.0	SCN5A KCNH2
6	familial periodic paralysis	10.0	SCN5A KCNJ2
7	brugada syndrome 1	10.0	SCN5A KCNH2
8	ventricular tachycardia, catecholaminergic polymorphic, 4	9.9	KCNQ1 CALM1
9	ventricular tachycardia, catecholaminergic polymorphic, 3	9.9	TRDN TECRL KCNJ2
10	paramyotonia congenita of von eulenburg	9.9	SCN5A KCNJ2
11	right bundle branch block	9.9	SCN5A KCNH2
12	malignant hyperthermia	9.9	TRDN TECRL SCN5A
13	first-degree atrioventricular block	9.8	SCN5A KCNJ2 KCNH2
14	progressive familial heart block	9.8	SCN5A KCNQ1
15	cardiac conduction defect	9.8	SCN5A KCNQ1
16	diamond-blackfan anemia 3	9.7	SCN5A KCNH2 CALM3 CALM1
17	paroxysmal extreme pain disorder	9.7	SCN5A SCN4B
18	hyperkalemic periodic paralysis	9.7	SCN5A KCNJ2
19	familial short qt syndrome	9.7	KCNQ1 KCNJ2 KCNH2
20	familial long qt syndrome	9.6	SCN5A KCNQ1 KCNH2
21	syncope	9.6	SCN5A KCNQ1 KCNH2
22	ventricular fibrillation, paroxysmal familial, 1	9.6	SCN5A KCNQ1 KCNH2
23	developmental and epileptic encephalopathy 14	9.6	SCN5A KCNQ1 KCNH2
24	noonan syndrome with multiple lentigines	9.6	SCN5A KCNQ1 KCNH2
25	wolff-parkinson-white syndrome	9.6	SCN5A KCNQ1 KCNH2
26	congestive heart failure	9.6	SCN5A KCNQ1 KCNJ2
27	rasopathy	9.5	SCN5A KCNQ1 KCNH2
28	arrhythmogenic right ventricular cardiomyopathy	9.5	SCN5A KCNQ1 KCNH2
29	cardiomyopathy, familial hypertrophic, 1	9.5	SCN5A KCNQ1 KCNH2
30	long qt syndrome 10	9.5	SNTA1 SCN5A SCN4B KCNJ2
31	brugada syndrome 4	9.4	SCN5A KCNQ1 KCNJ2 KCNH2
32	sinoatrial node disease	9.4	SCN5A KCNQ1 KCNJ2 KCNH2
33	third-degree atrioventricular block	9.4	SCN5A KCNQ1 KCNJ2 KCNH2
34	atrioventricular block	9.4	SCN5A KCNQ1 KCNJ2 KCNH2
35	long qt syndrome 11	9.3	SNTA1 SCN4B KCNQ1 KCNJ2
36	lipoprotein quantitative trait locus	9.3	SCN5A KCNQ1 KCNJ2 KCNH2
37	hypokalemic periodic paralysis, type 1	9.1	TRDN SCN5A SCN4B KCNQ1 KCNJ2
38	short qt syndrome	9.1	SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
39	sudden infant death syndrome	9.0	SNTA1 SCN5A SCN4B KCNQ1 KCNH2
40	cardiac arrest	9.0	TRDN TECRL SCN5A KCNQ1 KCNH2 CALM3
41	heart disease	9.0	TRDN SCN5A KCNQ1 KCNJ2 KCNH2
42	heart conduction disease	8.9	TRDN SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
43	long qt syndrome 5	8.9	SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
44	long qt syndrome 6	8.8	SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
45	long qt syndrome 13	8.8	SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
46	long qt syndrome 12	8.8	SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
47	atrial fibrillation	8.8	SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
48	intrinsic cardiomyopathy	8.8	SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
49	left ventricular noncompaction	8.8	TRDN SNTA1 SCN5A KCNQ1 KCNJ2 KCNH2
50	long qt syndrome 9	8.7	TRDN SNTA1 SCN5A SCN4B KCNQ1 KCNJ2

Graphical network of the top 20 diseases related to Long Qt Syndrome 14:

Sources

Symptoms & Phenotypes for Long Qt Syndrome 14

Human phenotypes related to Long Qt Syndrome 14:

³⁰ (show all 6)

#	Description	HPO Frequency	HPO Source Accession
1	cardiac arrest ³⁰	Very rare (1%)	HP:0001695
2	ventricular fibrillation ³⁰	Very rare (1%)	HP:0001663
3	prolonged qtc interval ³⁰	Very rare (1%)	HP:0005184
4	t-wave alternans ³⁰	Very rare (1%)	HP:0012266
5	prolonged qt interval ³⁰		HP:0001657
6	sudden death ³⁰		HP:0001699

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Cardiovascular Heart:
sudden death (in some patients)
cardiac arrest (in some patients)
recurrent episodes of ventricular fibrillation
ventricular tachycardia, nonsustained (in some patients)
syncopal episodes (in some patients)
more

Clinical features from OMIM®:

616247 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Long Qt Syndrome 14:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	muscle	MP:0005369	9.43	KCNH2 KCNJ2 KCNQ1 SCN5A SNTA1 TRDN
2	behavior/neurological	MP:0005386	9.23	CALM1 KCNJ2 KCNQ1 SCN4B SCN5A SNTA1

Sources

Drugs & Therapeutics for Long Qt Syndrome 14

Search Clinical Trials, NIH Clinical Center for Long Qt Syndrome 14

Sources

Genetic Tests for Long Qt Syndrome 14

Genetic tests related to Long Qt Syndrome 14:

#	Genetic test	Affiliating Genes
1	Long Qt Syndrome 14 ²⁸	CALM1

Sources

Anatomical Context for Long Qt Syndrome 14

Organs/tissues related to Long Qt Syndrome 14:

MalaCards : Heart

ODiseA: Heart-Ventricle, Heart

Sources

Publications for Long Qt Syndrome 14

Articles related to Long Qt Syndrome 14:

(show all 16)

#	Title	Authors	PMID	Year
1	Spectrum and Prevalence of CALM1-, CALM2-, and CALM3-Encoded Calmodulin Variants in Long QT Syndrome and Functional Characterization of a Novel Long QT Syndrome-Associated Calmodulin Missense Variant, E141G. ⁵⁷ ⁵	Boczek NJ...Ackerman MJ	26969752	2016
2	A mutation in CALM1 encoding calmodulin in familial idiopathic ventricular fibrillation in childhood and adolescence. ⁵⁷ ⁵	Marsman RF...Bezzina CR	24076290	2014
3	Calmodulin mutations associated with recurrent cardiac arrest in infants. ⁵⁷ ⁵	Crotti L...George AL	23388215	2013
4	Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry. ⁵⁷	Crotti L...Schwartz PJ	31170290	2019
5	Genetic Mosaicism in Calmodulinopathy. ⁵	Wren LM...George AL	31454269	2019
6	Elucidating arrhythmogenic mechanisms of long-QT syndrome CALM1-F142L mutation in patient-specific induced pluripotent stem cell-derived cardiomyocytes. ⁵	Rocchetti M...Zaza A	28158429	2017
7	Novel calmodulin mutations associated with congenital long QT syndrome affect calcium current in human cardiomyocytes. ⁵	Pipilas DC...George AL	27374306	2016
8	Arrhythmogenic calmodulin mutations impede activation of small-conductance calcium-activated potassium current. ⁵	Yu CC...Chen PS	27165696	2016
9	Distinctive malfunctions of calmodulin mutations associated with heart RyR2-mediated arrhythmic disease. ⁵	Vassilakopoulou V...Nomikos M	26164367	2015
10	Arrhythmogenic Calmodulin Mutations Affect the Activation and Termination of Cardiac Ryanodine Receptor-mediated Ca2+ Release. ⁵	Sondergaard MT...Overgaard MT	26309258	2015
11	Calmodulin mutations causing catecholaminergic polymorphic ventricular tachycardia confer opposing functional and biophysical molecular changes. ⁵	Sondergaard MT...Overgaard MT	25557436	2015
12	Calmodulin mutations associated with long QT syndrome prevent inactivation of cardiac L-type Ca(2+) currents and promote proarrhythmic behavior in ventricular myocytes. ⁵	Limpitikul WB...Yue DT	24816216	2014
13	Altered RyR2 regulation by the calmodulin F90L mutation associated with idiopathic ventricular fibrillation and early sudden cardiac death. ⁵	Nomikos M...Lai FA	25036739	2014
14	Divergent regulation of ryanodine receptor 2 calcium release channels by arrhythmogenic human calmodulin missense mutants. ⁵	Hwang HS...Knollmann BC	24563457	2014
15	Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death. ⁵	Nyegaard M...Borglum AD	23040497	2012
16	Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. ⁵⁷	Tester DJ...Ackerman MJ	15840476	2005

Sources

Genes for Long Qt Syndrome 14

Genes related to Long Qt Syndrome 14 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CALM1	Calmodulin 1	Protein Coding	1340.18	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	23040497 23388215 24563457 (more) 24816216 25557436 26164367 26309258 26969752 27165696 27374306 28158429 31454269 24076290 25036739
2	CALM3	Calmodulin 3	Protein Coding	7.05	DISEASES inferred ¹⁴
3	TRDN	Triadin	Protein Coding	6.74	DISEASES inferred ¹⁴
4	TECRL	Trans-2,3-Enoyl-CoA Reductase Like	Protein Coding	6.33	DISEASES inferred ¹⁴
5	KCNH2	Potassium Voltage-Gated Channel Subfamily H Member 2	Protein Coding	6.28	DISEASES inferred ¹⁴
6	KCNJ2	Potassium Inwardly Rectifying Channel Subfamily J Member 2	Protein Coding	6.23	DISEASES inferred ¹⁴
7	SNTA1	Syntrophin Alpha 1	Protein Coding	6.21	DISEASES inferred ¹⁴
8	SCN4B	Sodium Voltage-Gated Channel Beta Subunit 4	Protein Coding	6.19	DISEASES inferred ¹⁴
9	KCNQ1	Potassium Voltage-Gated Channel Subfamily Q Member 1	Protein Coding	6.19	DISEASES inferred ¹⁴
10	SCN5A	Sodium Voltage-Gated Channel Alpha Subunit 5	Protein Coding	6.16	DISEASES inferred ¹⁴

Sources

Variations for Long Qt Syndrome 14

ClinVar genetic disease variations for Long Qt Syndrome 14:

⁵ (show top 50) (show all 51)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	CALM1	NM_006888.6(CALM1):c.389A>G (p.Asp130Gly)	SNV	Pathogenic	183230	rs730882252	GRCh37: 14:90870826-90870826 GRCh38: 14:90404482-90404482
2	CALM1	NM_006888.6(CALM1):c.426C>G (p.Phe142Leu)	SNV	Pathogenic	183231	rs199744595	GRCh37: 14:90871037-90871037 GRCh38: 14:90404693-90404693
3	CALM1	NM_006888.6(CALM1):c.422A>G (p.Glu141Gly)	SNV	Pathogenic	974612	rs1887120112	GRCh37: 14:90871033-90871033 GRCh38: 14:90404689-90404689
4	CALM1	NM_006888.6(CALM1):c.422A>T (p.Glu141Val)	SNV	Pathogenic	974613	rs1887120112	GRCh37: 14:90871033-90871033 GRCh38: 14:90404689-90404689
5	CALM1	NM_006888.6(CALM1):c.395A>G (p.Asp132Gly)	SNV	Pathogenic	1362982		GRCh37: 14:90870832-90870832 GRCh38: 14:90404488-90404488
6	CALM1	NM_006888.6(CALM1):c.394G>A (p.Asp132Asn)	SNV	Pathogenic	639902	rs1595102640	GRCh37: 14:90870831-90870831 GRCh38: 14:90404487-90404487
7	CALM1	NM_006888.6(CALM1):c.395A>T (p.Asp132Val)	SNV	Pathogenic	948239	rs1887113791	GRCh37: 14:90870832-90870832 GRCh38: 14:90404488-90404488
8	CALM1	NM_006888.6(CALM1):c.426C>A (p.Phe142Leu)	SNV	Pathogenic	961658	rs199744595	GRCh37: 14:90871037-90871037 GRCh38: 14:90404693-90404693
9	CALM1	NM_006888.6(CALM1):c.424T>C (p.Phe142Leu)	SNV	Pathogenic	426161	rs1085307479	GRCh37: 14:90871035-90871035 GRCh38: 14:90404691-90404691
10	CALM1	NM_006888.6(CALM1):c.293A>G (p.Asn98Ser)	SNV	Pathogenic	39758	rs267607277	GRCh37: 14:90870730-90870730 GRCh38: 14:90404386-90404386
11	CALM1	NM_006888.6(CALM1):c.398G>A (p.Gly133Glu)	SNV	Likely Pathogenic	542137	rs1555366045	GRCh37: 14:90870835-90870835 GRCh38: 14:90404491-90404491
12	CALM1	NM_006888.6(CALM1):c.268T>C (p.Phe90Leu)	SNV	Likely Pathogenic	183232	rs730882253	GRCh37: 14:90870295-90870295 GRCh38: 14:90403951-90403951
13	CALM1	NM_006888.6(CALM1):c.328A>C (p.Met110Leu)	SNV	Uncertain Significance	1424459		GRCh37: 14:90870765-90870765 GRCh38: 14:90404421-90404421
14	CALM1	NC_000014.8:g.(?_90870713)_(90871071_?)dup	DUP	Uncertain Significance	1062650		GRCh37: 14:90870713-90871071 GRCh38:
15	CALM1	NM_006888.6(CALM1):c.78C>T (p.Gly26=)	SNV	Uncertain Significance	475383	rs1555365884	GRCh37: 14:90867646-90867646 GRCh38: 14:90401302-90401302
16	CALM1	NM_006888.6(CALM1):c.157A>G (p.Ile53Val)	SNV	Uncertain Significance	475380	rs1555365887	GRCh37: 14:90867725-90867725 GRCh38: 14:90401381-90401381
17	CALM1	NM_006888.6(CALM1):c.301A>G (p.Ile101Val)	SNV	Uncertain Significance	644229	rs1595102592	GRCh37: 14:90870738-90870738 GRCh38: 14:90404394-90404394
18	CALM1	NM_006888.6(CALM1):c.106G>C (p.Val36Leu)	SNV	Uncertain Significance	845207	rs1887015236	GRCh37: 14:90867674-90867674 GRCh38: 14:90401330-90401330
19	CALM1	NM_006888.6(CALM1):c.280G>C (p.Asp94His)	SNV	Uncertain Significance	945682	rs1887099943	GRCh37: 14:90870307-90870307 GRCh38: 14:90403963-90403963
20	CALM1	NM_006888.6(CALM1):c.358G>A (p.Glu120Lys)	SNV	Uncertain Significance	1718023		GRCh37: 14:90870795-90870795 GRCh38: 14:90404451-90404451
21	CALM1	NM_006888.6(CALM1):c.72C>T (p.Gly24=)	SNV	Uncertain Significance	162063	rs267607278	GRCh37: 14:90867640-90867640 GRCh38: 14:90401296-90401296
22	CALM1	NM_006888.6(CALM1):c.411C>G (p.Val137=)	SNV	Likely Benign	542139	rs749827346	GRCh37: 14:90870848-90870848 GRCh38: 14:90404504-90404504
23	CALM1	NM_006888.6(CALM1):c.18C>T (p.Thr6=)	SNV	Likely Benign	391901	rs755065015	GRCh37: 14:90866423-90866423 GRCh38: 14:90400079-90400079
24	CALM1	NM_006888.6(CALM1):c.225A>G (p.Arg75=)	SNV	Likely Benign	1620746		GRCh37: 14:90870252-90870252 GRCh38: 14:90403908-90403908
25	CALM1	NM_006888.6(CALM1):c.324C>T (p.His108=)	SNV	Likely Benign	389896	rs139706811	GRCh37: 14:90870761-90870761 GRCh38: 14:90404417-90404417
26	CALM1	NM_006888.6(CALM1):c.69T>C (p.Asp23=)	SNV	Likely Benign	475382	rs144339242	GRCh37: 14:90867637-90867637 GRCh38: 14:90401293-90401293
27	CALM1	NM_006888.6(CALM1):c.273A>G (p.Arg91=)	SNV	Likely Benign	542138	rs1211887414	GRCh37: 14:90870300-90870300 GRCh38: 14:90403956-90403956
28	CALM1	NM_006888.6(CALM1):c.402C>T (p.Asp134=)	SNV	Likely Benign	1483238		GRCh37: 14:90870839-90870839 GRCh38: 14:90404495-90404495
29	CALM1	NM_006888.6(CALM1):c.421+7_421+10del	DEL	Likely Benign	423014	rs771894805	GRCh37: 14:90870863-90870866 GRCh38: 14:90404519-90404522
30	CALM1	NM_006888.6(CALM1):c.34+16C>T	SNV	Likely Benign	1576161		GRCh37: 14:90866455-90866455 GRCh38: 14:90400111-90400111
31	CALM1	NM_006888.6(CALM1):c.183T>C (p.Asn61=)	SNV	Likely Benign	1532952		GRCh37: 14:90870210-90870210 GRCh38: 14:90403866-90403866
32	CALM1	NM_006888.6(CALM1):c.421+8_421+9del	DEL	Likely Benign	1579436		GRCh37: 14:90870866-90870867 GRCh38: 14:90404522-90404523
33	CALM1	NM_006888.6(CALM1):c.285+17A>G	SNV	Likely Benign	1591527		GRCh37: 14:90870329-90870329 GRCh38: 14:90403985-90403985
34	CALM1	NM_006888.6(CALM1):c.3+13T>C	SNV	Likely Benign	1625710		GRCh37: 14:90863590-90863590 GRCh38: 14:90397246-90397246
35	CALM1	NM_006888.6(CALM1):c.390T>C (p.Asp130=)	SNV	Likely Benign	1592268		GRCh37: 14:90870827-90870827 GRCh38: 14:90404483-90404483
36	CALM1	NM_006888.6(CALM1):c.118C>T (p.Leu40=)	SNV	Likely Benign	1632430		GRCh37: 14:90867686-90867686 GRCh38: 14:90401342-90401342
37	CALM1	NM_006888.6(CALM1):c.285+20G>T	SNV	Likely Benign	1601848		GRCh37: 14:90870332-90870332 GRCh38: 14:90403988-90403988
38	CALM1	NM_006888.6(CALM1):c.108C>T (p.Val36=)	SNV	Likely Benign	1639895		GRCh37: 14:90867676-90867676 GRCh38: 14:90401332-90401332
39	CALM1	NM_006888.6(CALM1):c.417T>C (p.Tyr139=)	SNV	Likely Benign	1547633		GRCh37: 14:90870854-90870854 GRCh38: 14:90404510-90404510
40	CALM1	NM_006888.6(CALM1):c.422-20T>C	SNV	Likely Benign	1660141		GRCh37: 14:90871013-90871013 GRCh38: 14:90404669-90404669
41	CALM1	NM_006888.6(CALM1):c.87A>C (p.Thr29=)	SNV	Likely Benign	1671658		GRCh37: 14:90867655-90867655 GRCh38: 14:90401311-90401311
42	CALM1	NM_006888.6(CALM1):c.34+12A>C	SNV	Likely Benign	1568949		GRCh37: 14:90866451-90866451 GRCh38: 14:90400107-90400107
43	CALM1	NM_006888.6(CALM1):c.4-9T>A	SNV	Likely Benign	1086423		GRCh37: 14:90866400-90866400 GRCh38: 14:90400056-90400056
44	CALM1	NM_006888.6(CALM1):c.421+6dup	DUP	Likely Benign	1090568		GRCh37: 14:90870860-90870861 GRCh38: 14:90404516-90404517
45	CALM1	NM_006888.6(CALM1):c.426C>T (p.Phe142=)	SNV	Likely Benign	1122289		GRCh37: 14:90871037-90871037 GRCh38: 14:90404693-90404693
46	CALM1	NM_006888.6(CALM1):c.267A>G (p.Ala89=)	SNV	Likely Benign	1127747		GRCh37: 14:90870294-90870294 GRCh38: 14:90403950-90403950
47	CALM1	NM_006888.6(CALM1):c.90A>C (p.Thr30=)	SNV	Likely Benign	1136143		GRCh37: 14:90867658-90867658 GRCh38: 14:90401314-90401314
48	CALM1	NM_006888.6(CALM1):c.178+18A>G	SNV	Benign	389684	rs201018787	GRCh37: 14:90867764-90867764 GRCh38: 14:90401420-90401420
49	CALM1	NM_006888.6(CALM1):c.303C>T (p.Ile101=)	SNV	Benign	475381	rs143503733	GRCh37: 14:90870740-90870740 GRCh38: 14:90404396-90404396
50	LOC112272566, CALM1	NM_006888.5(CALM1):c.-218C>T	SNV	Benign	1164456		GRCh37: 14:90863357-90863357 GRCh38: 14:90397013-90397013

UniProtKB/Swiss-Prot genetic disease variations for Long Qt Syndrome 14:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	CALM1	p.Phe90Leu	VAR_073275	rs730882253
2	CALM1	p.Phe142Leu	VAR_073282	rs1085307479
3	CALM1	p.Glu141Gly	VAR_078263
4	CALM1	p.Asp130Gly	VAR_078542	rs730882252
5	CALM1	p.Glu141Val	VAR_083814

Sources

Expression for Long Qt Syndrome 14

Search GEO for disease gene expression data for Long Qt Syndrome 14.

Sources

Pathways for Long Qt Syndrome 14

Pathways related to Long Qt Syndrome 14 according to GeneCards Suite gene sharing:

(show all 20)

#	Super pathways	Score	Top Affiliating Genes
1	Transmission across Chemical Synapses ⁶⁶ Show member pathways Neuronal System ⁶⁶ Neurotransmitter receptors and postsynaptic signal transmission ⁶⁶	12.75	CALM1 CALM3 KCNH2 KCNJ2 KCNQ1
2	G-Beta Gamma Signaling ⁶⁴ Show member pathways CRHR Pathway ⁶⁴ GHRH Signaling ⁶⁴	12.32	SCN5A SCN4B CALM3 CALM1
3	Ion channel transport ⁶⁶ Show member pathways Stimuli-sensing channels ⁶⁶	12.24	TRDN CALM3 CALM1
4	Dopamine-DARPP32 Feedback onto cAMP Pathway ⁶⁴	12.08	KCNQ1 KCNJ2 KCNH2 CALM3 CALM1
5	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	11.96	TRDN SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
6	Sudden infant death syndrome (SIDS) susceptibility pathways ⁷⁴	11.86	SNTA1 SCN5A SCN4B KCNQ1 KCNH2
7	Potassium Channels ⁶⁶ Show member pathways Ca2+ activated K+ channels ⁶⁶ HCN channels ⁶⁶ Voltage gated Potassium channels ⁶⁶	11.85	KCNQ1 KCNJ2 KCNH2
8	Smooth Muscle Contraction ⁶⁶	11.24	CALM3 CALM1
9	Antigen activates B Cell Receptor (BCR) leading to generation of second messengers ⁶⁶ Show member pathways B-Cell Receptor Complex ⁶⁴ CD22 mediated BCR regulation ⁶⁶	11.17	CALM3 CALM1
10	Metabolism of nitric oxide: NOS3 activation and regulation ⁶⁶ Show member pathways EGF/EGFR signaling pathway ⁷⁴ eNOS activation ⁶⁶ NOSIP mediated eNOS trafficking ⁶⁶ NOSTRIN mediated eNOS trafficking ⁶⁶	11.15	CALM3 CALM1
11	Nur77 Signaling in T-Cell ⁶⁴	11.1	CALM3 CALM1
12	Antiarrhythmic Pathway, Pharmacodynamics ⁶⁰	11.09	SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
13	Interaction between L1 and Ankyrins ⁶⁶	11.04	SCN5A SCN4B
14	nNOS Signaling at Neuronal Synapses ⁶⁴	11	CALM3 CALM1
15	Phase 0 - rapid depolarisation ⁶⁶	10.99	SCN5A SCN4B CALM3 CALM1
16	RAS processing ⁶⁶	10.96	CALM3 CALM1
17	VEGFR2 mediated cell proliferation ⁶⁶	10.83	CALM3 CALM1
18	Protein methylation ⁶⁶	10.77	CALM3 CALM1
19	Genes targeted by miRNAs in adipocytes ⁷⁴	10.57	KCNQ1 KCNJ2
20	Estradiol regulation in porto-sinusoidal vascular disease ⁷⁴	10.21	CALM3 CALM1

Sources

GO Terms for Long Qt Syndrome 14

Cellular components related to Long Qt Syndrome 14 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	calcium channel complex	GO:0034704	9.67	CALM3 CALM1
2	catalytic complex	GO:1902494	9.62	CALM3 CALM1
3	voltage-gated sodium channel complex	GO:0001518	9.56	SCN5A SCN4B
4	lateral plasma membrane	GO:0016328	9.55	SNTA1 SCN5A KCNQ1
5	intercalated disc	GO:0014704	9.43	SCN5A SCN4B KCNJ2
6	voltage-gated potassium channel complex	GO:0008076	9.32	KCNQ1 KCNJ2 KCNH2 CALM3 CALM1

Biological processes related to Long Qt Syndrome 14 according to GeneCards Suite gene sharing:

(show all 45)

#	Name	GO ID	Score	Top Affiliating Genes
1	potassium ion transmembrane transport	GO:0071805	10.16	KCNQ1 KCNJ2 KCNH2
2	sodium ion transport	GO:0006814	10.05	KCNQ1 SCN4B SCN5A
3	potassium ion import across plasma membrane	GO:1990573	10.04	KCNH2 KCNJ2 KCNQ1
4	regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	GO:0010880	10.02	TRDN CALM3 CALM1
5	cardiac muscle cell action potential involved in contraction	GO:0086002	10.01	SCN5A SCN4B KCNJ2
6	positive regulation of protein autophosphorylation	GO:0031954	10	CALM3 CALM1
7	positive regulation of potassium ion transmembrane transport	GO:1901381	10	KCNQ1 KCNJ2 KCNH2
8	potassium ion homeostasis	GO:0055075	9.99	KCNQ1 KCNH2
9	regulation of cardiac muscle contraction	GO:0055117	9.99	CALM3 CALM1
10	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	GO:0010881	9.99	CALM3 CALM1
11	membrane depolarization during cardiac muscle cell action potential	GO:0086012	9.99	KCNJ2 SCN4B SCN5A
12	negative regulation of peptidyl-threonine phosphorylation	GO:0010801	9.98	CALM3 CALM1
13	regulation of calcium-mediated signaling	GO:0050848	9.98	CALM3 CALM1
14	membrane depolarization during action potential	GO:0086010	9.97	SCN5A KCNH2
15	positive regulation of phosphoprotein phosphatase activity	GO:0032516	9.97	CALM3 CALM1
16	positive regulation of sodium ion transport	GO:0010765	9.97	SCN5A SCN4B
17	negative regulation of ryanodine-sensitive calcium-release channel activity	GO:0060315	9.97	TRDN CALM3 CALM1
18	potassium ion export across plasma membrane	GO:0097623	9.96	KCNQ1 KCNH2
19	potassium ion transport	GO:0006813	9.96	KCNQ1 KCNJ2 KCNH2
20	monoatomic ion transport	GO:0006811	9.96	SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
21	detection of calcium ion	GO:0005513	9.95	CALM3 CALM1
22	membrane repolarization during ventricular cardiac muscle cell action potential	GO:0098915	9.95	KCNQ1 KCNH2
23	regulation of membrane repolarization	GO:0060306	9.95	KCNQ1 KCNJ2 KCNH2
24	regulation of cardiac muscle cell contraction	GO:0086004	9.94	SCN5A KCNJ2
25	regulation of sodium ion transmembrane transport	GO:1902305	9.93	SNTA1 SCN5A
26	atrial cardiac muscle cell action potential	GO:0086014	9.93	KCNQ1 SCN5A
27	membrane repolarization during action potential	GO:0086011	9.93	KCNQ1 KCNJ2 KCNH2
28	regulation of cell communication by electrical coupling involved in cardiac conduction	GO:1901844	9.92	CALM1 CALM3
29	cardiac muscle contraction	GO:0060048	9.92	SCN5A SCN4B KCNQ1 KCNH2
30	regulation of atrial cardiac muscle cell membrane repolarization	GO:0060372	9.91	SCN5A KCNQ1
31	negative regulation of high voltage-gated calcium channel activity	GO:1901842	9.91	CALM3 CALM1
32	membrane repolarization during cardiac muscle cell action potential	GO:0086013	9.91	KCNQ1 KCNJ2 KCNH2
33	regulation of cardiac muscle cell action potential	GO:0098901	9.9	CALM3 CALM1
34	positive regulation of cyclic-nucleotide phosphodiesterase activity	GO:0051343	9.89	CALM3 CALM1
35	negative regulation of calcium ion export across plasma membrane	GO:1905913	9.88	CALM3 CALM1
36	AV node cell action potential	GO:0086016	9.88	SCN5A SCN4B
37	positive regulation of ryanodine-sensitive calcium-release channel activity	GO:0060316	9.88	CALM1 CALM3 TRDN
38	ventricular cardiac muscle cell action potential	GO:0086005	9.86	SNTA1 SCN5A KCNQ1 KCNH2
39	regulation of ryanodine-sensitive calcium-release channel activity	GO:0060314	9.85	CALM1 CALM3
40	regulation of monoatomic ion transmembrane transport	GO:0034765	9.85	SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
41	regulation of heart rate by cardiac conduction	GO:0086091	9.85	KCNH2 KCNJ2 KCNQ1 SCN4B SCN5A
42	membrane repolarization	GO:0086009	9.81	KCNQ1 KCNH2
43	negative regulation of calcium ion transmembrane transporter activity	GO:1901020	9.62	CALM3 CALM1
44	regulation of heart rate	GO:0002027	9.61	SNTA1 SCN5A KCNQ1 CALM3 CALM1
45	regulation of ventricular cardiac muscle cell membrane repolarization	GO:0060307	9.32	SNTA1 SCN5A SCN4B KCNQ1 KCNH2

Molecular functions related to Long Qt Syndrome 14 according to GeneCards Suite gene sharing:

(show all 17)

#	Name	GO ID	Score	Top Affiliating Genes
1	scaffold protein binding	GO:0097110	9.91	SCN5A KCNQ1 KCNH2
2	enzyme regulator activity	GO:0030234	9.87	CALM3 CALM1
3	inward rectifier potassium channel activity	GO:0005242	9.86	KCNJ2 KCNH2
4	voltage-gated sodium channel activity	GO:0005248	9.85	SCN5A SCN4B
5	protein phosphatase activator activity	GO:0072542	9.83	CALM3 CALM1
6	titin binding	GO:0031432	9.8	CALM3 CALM1
7	voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	GO:1902282	9.78	KCNQ1 KCNH2
8	adenylate cyclase binding	GO:0008179	9.76	CALM3 CALM1
9	nitric-oxide synthase binding	GO:0050998	9.73	SNTA1 SCN5A CALM3
10	voltage-gated sodium channel activity involved in cardiac muscle cell action potential	GO:0086006	9.71	SCN4B SCN5A
11	monoatomic ion channel activity	GO:0005216	9.69	KCNH2 KCNQ1 SCN5A
12	adenylate cyclase activator activity	GO:0010856	9.67	CALM3 CALM1
13	voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization	GO:0086008	9.63	KCNH2 KCNJ2 KCNQ1
14	N-terminal myristoylation domain binding	GO:0031997	9.62	CALM3 CALM1
15	sodium channel activity	GO:0005272	9.54	SCN5A SCN4B
16	voltage-gated monoatomic ion channel activity	GO:0005244	9.5	SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
17	transmembrane transporter binding	GO:0044325	9.47	TRDN SNTA1 SCN5A SCN4B KCNQ1 CALM3

Sources

Sources for Long Qt Syndrome 14

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

LQT14 MCID: LNG098 MIFTS: 44	Long Qt Syndrome 14 (LQT14) 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 14 (LQT14)

Aliases & Classifications for Long Qt Syndrome 14

MalaCards integrated aliases for Long Qt Syndrome 14:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Long Qt Syndrome 14

Related Diseases for Long Qt Syndrome 14

Diseases in the Long Qt Syndrome family:

Diseases related to Long Qt Syndrome 14 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Long Qt Syndrome 14:

Symptoms & Phenotypes for Long Qt Syndrome 14

Human phenotypes related to Long Qt Syndrome 14:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

MGI Mouse Phenotypes related to Long Qt Syndrome 14:

Drugs & Therapeutics for Long Qt Syndrome 14

Genetic Tests for Long Qt Syndrome 14

Genetic tests related to Long Qt Syndrome 14:

Anatomical Context for Long Qt Syndrome 14

Organs/tissues related to Long Qt Syndrome 14:

Publications for Long Qt Syndrome 14

Articles related to Long Qt Syndrome 14:

Genes for Long Qt Syndrome 14

Genes related to Long Qt Syndrome 14 (1 elite genes):

Variations for Long Qt Syndrome 14

ClinVar genetic disease variations for Long Qt Syndrome 14:

UniProtKB/Swiss-Prot genetic disease variations for Long Qt Syndrome 14:

Expression for Long Qt Syndrome 14

Pathways for Long Qt Syndrome 14

Pathways related to Long Qt Syndrome 14 according to GeneCards Suite gene sharing:

GO Terms for Long Qt Syndrome 14

Cellular components related to Long Qt Syndrome 14 according to GeneCards Suite gene sharing:

Biological processes related to Long Qt Syndrome 14 according to GeneCards Suite gene sharing:

Molecular functions related to Long Qt Syndrome 14 according to GeneCards Suite gene sharing:

Sources for Long Qt Syndrome 14