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

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Aliases & Classifications for Long Qt Syndrome 14

MalaCards integrated aliases for Long Qt Syndrome 14:

Name: Long Qt Syndrome 14 ⁵⁸ ¹² ⁷⁶ ³⁰ ⁶ ¹⁵ ⁷⁴

Lqt14 ⁵⁸ ¹² ⁷⁶

Long Qt Syndrome, Type 14 ⁴¹

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal dominant

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

HPO:

³³

long qt syndrome 14:
Clinical modifier sudden death
Inheritance autosomal dominant inheritance

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the circulatory system

Other forms of heart disease

Other conduction disorders

Other specified conduction disorders

External Ids:

Disease Ontology ¹² DOID:0110655

OMIM ⁵⁸ 616247

MeSH ⁴⁵ D008133

ICD10 ³⁴ I45.8

MedGen ⁴³ C4015671 CN228133

SNOMED-CT via HPO ⁷⁰ 263681008 26636000 397829000 more

UMLS ⁷⁴ C4015671

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Summaries for Long Qt Syndrome 14

UniProtKB/Swiss-Prot : ⁷⁶ Long QT syndrome 14: 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.

MalaCards based summary : Long Qt Syndrome 14, also known as lqt14, is related to long qt syndrome 1 and long qt syndrome. An important gene associated with Long Qt Syndrome 14 is CALM1 (Calmodulin 1). Affiliated tissues include heart and testes, and related phenotypes are cardiac arrest and ventricular fibrillation

Disease Ontology : ¹² A long QT syndrome that has material basis in dominant inheritance of mutation in the CALM1 gene on chromosome 14q32.11.

Description from OMIM: 616247

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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

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

#	Related Disease	Score	Top Affiliating Genes
1	long qt syndrome 1	9.7	ANK2 CALM1
2	long qt syndrome	9.7	ANK2 CALM1
3	ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	9.7	ANK2 CALM1
4	catecholaminergic polymorphic ventricular tachycardia	9.6	ANK2 CALM1
5	cardiac arrest	9.5	ANK2 CALM1

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:

³³

#	Description	HPO Frequency	HPO Source Accession
1	cardiac arrest ³³	occasional (7.5%)	HP:0001695
2	ventricular fibrillation ³³		HP:0001663
3	prolonged qtc interval ³³		HP:0005184

Symptoms via clinical synopsis from OMIM:

⁵⁸

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

Clinical features from OMIM:

616247

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Drugs & Therapeutics for Long Qt Syndrome 14

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

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Genetic Tests for Long Qt Syndrome 14

Genetic tests related to Long Qt Syndrome 14:

#	Genetic test	Affiliating Genes
1	Long Qt Syndrome 14 ³⁰	CALM1

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Anatomical Context for Long Qt Syndrome 14

MalaCards organs/tissues related to Long Qt Syndrome 14:

⁴²

Heart, Testes

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Publications for Long Qt Syndrome 14

Articles related to Long Qt Syndrome 14:

#	Title	Authors	Year
1	A mutation in CALM1 encoding calmodulin in familial idiopathic ventricular fibrillation in childhood and adolescence. ( 24076290 )	Marsman RF...Bezzina CR	2014
2	Calmodulin mutations associated with recurrent cardiac arrest in infants. ( 23388215 )	Crotti L...George AL	2013

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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	PubmedIds
1	CALM1	Calmodulin 1	Protein Coding	1328.81	Molecular basis known ⁵⁸ Pathogenic/Likely pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	23388215 20301308 24076290
2	ANK2	Ankyrin 2	Protein Coding	17.26	DISEASES inferred ¹⁵

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Variations for Long Qt Syndrome 14

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

⁷⁶

#	Symbol	AA change	Variation ID	SNP ID
1	CALM1	p.Phe90Leu	VAR_073275	rs730882253
2	CALM1	p.Phe142Leu	VAR_073282	rs11551462
3	CALM1	p.Glu141Gly	VAR_078263
4	CALM1	p.Asp130Gly	VAR_078542	rs730882252

ClinVar genetic disease variations for Long Qt Syndrome 14:

⁶ (show all 28)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	CALM1	NM_006888.5(CALM1): c.293A> G (p.Asn98Ser)	single nucleotide variant	Pathogenic/Likely pathogenic	rs267607277	GRCh37	Chromosome 14, 90870730: 90870730
2	CALM1	NM_006888.5(CALM1): c.293A> G (p.Asn98Ser)	single nucleotide variant	Pathogenic/Likely pathogenic	rs267607277	GRCh38	Chromosome 14, 90404386: 90404386
3	CALM1	NM_006888.4(CALM1): c.72C> T (p.Gly24=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs267607278	GRCh37	Chromosome 14, 90867640: 90867640
4	CALM1	NM_006888.4(CALM1): c.72C> T (p.Gly24=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs267607278	GRCh38	Chromosome 14, 90401296: 90401296
5	CALM1	NM_006888.5(CALM1): c.389A> G (p.Asp130Gly)	single nucleotide variant	Pathogenic	rs730882252	GRCh37	Chromosome 14, 90870826: 90870826
6	CALM1	NM_006888.5(CALM1): c.389A> G (p.Asp130Gly)	single nucleotide variant	Pathogenic	rs730882252	GRCh38	Chromosome 14, 90404482: 90404482
7	CALM1	NM_006888.5(CALM1): c.426C> G (p.Phe142Leu)	single nucleotide variant	Pathogenic	rs199744595	GRCh37	Chromosome 14, 90871037: 90871037
8	CALM1	NM_006888.5(CALM1): c.426C> G (p.Phe142Leu)	single nucleotide variant	Pathogenic	rs199744595	GRCh38	Chromosome 14, 90404693: 90404693
9	CALM1	NM_006888.5(CALM1): c.268T> C (p.Phe90Leu)	single nucleotide variant	Pathogenic	rs730882253	GRCh37	Chromosome 14, 90870295: 90870295
10	CALM1	NM_006888.5(CALM1): c.268T> C (p.Phe90Leu)	single nucleotide variant	Pathogenic	rs730882253	GRCh38	Chromosome 14, 90403951: 90403951
11	CALM1	NM_006888.4(CALM1): c.324C> T (p.His108=)	single nucleotide variant	Likely benign	rs139706811	GRCh37	Chromosome 14, 90870761: 90870761
12	CALM1	NM_006888.4(CALM1): c.324C> T (p.His108=)	single nucleotide variant	Likely benign	rs139706811	GRCh38	Chromosome 14, 90404417: 90404417
13	CALM1	NM_006888.4(CALM1): c.4-10C> G	single nucleotide variant	Benign/Likely benign	rs191723671	GRCh37	Chromosome 14, 90866399: 90866399
14	CALM1	NM_006888.4(CALM1): c.4-10C> G	single nucleotide variant	Benign/Likely benign	rs191723671	GRCh38	Chromosome 14, 90400055: 90400055
15	CALM1	NM_006888.4(CALM1): c.69T> C (p.Asp23=)	single nucleotide variant	Likely benign	rs144339242	GRCh37	Chromosome 14, 90867637: 90867637
16	CALM1	NM_006888.4(CALM1): c.69T> C (p.Asp23=)	single nucleotide variant	Likely benign	rs144339242	GRCh38	Chromosome 14, 90401293: 90401293
17	CALM1	NM_006888.4(CALM1): c.78C> T (p.Gly26=)	single nucleotide variant	Uncertain significance	rs1555365884	GRCh38	Chromosome 14, 90401302: 90401302
18	CALM1	NM_006888.4(CALM1): c.78C> T (p.Gly26=)	single nucleotide variant	Uncertain significance	rs1555365884	GRCh37	Chromosome 14, 90867646: 90867646
19	CALM1	NM_006888.4(CALM1): c.157A> G (p.Ile53Val)	single nucleotide variant	Uncertain significance	rs1555365887	GRCh38	Chromosome 14, 90401381: 90401381
20	CALM1	NM_006888.4(CALM1): c.157A> G (p.Ile53Val)	single nucleotide variant	Uncertain significance	rs1555365887	GRCh37	Chromosome 14, 90867725: 90867725
21	CALM1	NM_006888.4(CALM1): c.303C> T (p.Ile101=)	single nucleotide variant	Benign/Likely benign	rs143503733	GRCh37	Chromosome 14, 90870740: 90870740
22	CALM1	NM_006888.4(CALM1): c.303C> T (p.Ile101=)	single nucleotide variant	Benign/Likely benign	rs143503733	GRCh38	Chromosome 14, 90404396: 90404396
23	CALM1	NM_006888.4(CALM1): c.398G> A (p.Gly133Glu)	single nucleotide variant	Likely pathogenic	rs1555366045	GRCh37	Chromosome 14, 90870835: 90870835
24	CALM1	NM_006888.4(CALM1): c.398G> A (p.Gly133Glu)	single nucleotide variant	Likely pathogenic	rs1555366045	GRCh38	Chromosome 14, 90404491: 90404491
25	CALM1	NM_006888.4(CALM1): c.273A> G (p.Arg91=)	single nucleotide variant	Likely benign	rs1211887414	GRCh38	Chromosome 14, 90403956: 90403956
26	CALM1	NM_006888.4(CALM1): c.273A> G (p.Arg91=)	single nucleotide variant	Likely benign	rs1211887414	GRCh37	Chromosome 14, 90870300: 90870300
27	CALM1	NM_006888.4(CALM1): c.411C> G (p.Val137=)	single nucleotide variant	Likely benign	rs749827346	GRCh37	Chromosome 14, 90870848: 90870848
28	CALM1	NM_006888.4(CALM1): c.411C> G (p.Val137=)	single nucleotide variant	Likely benign	rs749827346	GRCh38	Chromosome 14, 90404504: 90404504

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Expression for Long Qt Syndrome 14

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

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Pathways for Long Qt Syndrome 14

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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	neuron projection	GO:0043005	8.62	ANK2 CALM1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	regulation of heart rate	GO:0002027	9.16	ANK2 CALM1
2	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	GO:0010881	8.96	ANK2 CALM1
3	regulation of cardiac muscle contraction	GO:0055117	8.62	ANK2 CALM1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	protein kinase binding	GO:0019901	8.96	ANK2 CALM1
2	ion channel binding	GO:0044325	8.62	ANK2 CALM1

Sources

Sources for Long Qt Syndrome 14

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 FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Long Qt Syndrome 14 (LQT14)

Aliases & Classifications for Long Qt Syndrome 14

MalaCards integrated aliases for Long Qt Syndrome 14:

Characteristics:

OMIM:

HPO:

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:

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

MalaCards 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

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

ClinVar genetic disease variations for Long Qt Syndrome 14:

Expression for Long Qt Syndrome 14

Pathways for Long Qt Syndrome 14

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