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 ⁵⁷ ¹² ⁷⁴ ²⁹ ⁶ ¹⁵ ⁷²

Lqt14 ⁵⁷ ¹² ⁷⁴

Long Qt Syndrome, Type 14 ⁴⁰

Characteristics:

OMIM:

⁵⁷

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:

³²

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: ³³

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 ⁵⁷ 616247 PS192500

MeSH ⁴⁴ D008133

ICD10 ³³ I45.8

MedGen ⁴² C4015671 CN228133

UMLS ⁷² C4015671

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Summaries for Long Qt Syndrome 14

UniProtKB/Swiss-Prot : ⁷⁴ 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 prolonged qtc interval

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

More information from OMIM: 616247 PS192500

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	Familial Long Qt Syndrome

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	9.6	CALM1 ANK2
2	long qt syndrome	9.5	CALM1 ANK2
3	ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	9.5	CALM1 ANK2
4	catecholaminergic polymorphic ventricular tachycardia	9.4	CALM1 ANK2
5	cardiac arrest	9.2	CALM1 ANK2

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:

³²

#	Description	HPO Frequency	HPO Source Accession
1	cardiac arrest ³²	occasional (7.5%)	HP:0001695
2	prolonged qtc interval ³²		HP:0005184
3	ventricular fibrillation ³²		HP:0001663

Symptoms via clinical synopsis from OMIM:

⁵⁷

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 ²⁹	CALM1

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Anatomical Context for Long Qt Syndrome 14

MalaCards organs/tissues related to Long Qt Syndrome 14:

⁴¹

Heart, Testes

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Publications for Long Qt Syndrome 14

Articles related to Long Qt Syndrome 14:

#	Title	Authors	PMID	Year
1	A mutation in CALM1 encoding calmodulin in familial idiopathic ventricular fibrillation in childhood and adolescence. ⁸ ⁷¹	Marsman RF...Bezzina CR	24076290	2014
2	Calmodulin mutations associated with recurrent cardiac arrest in infants. ⁸ ⁷¹	Crotti L...George AL	23388215	2013
3	Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. ⁷¹	Priori SG...Asia Pacific Heart Rhythm Society	23994779	2013
4	Long QT Syndrome ⁷¹	Alders M...Christiaans I	20301308	2003

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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	1328.76	Molecular basis known ⁵⁷ Pathogenic/Likely pathogenic ⁶ Causative variation ⁷⁴ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	23388215 24076290 20301308
2	ANK2	Ankyrin 2	Protein Coding	17.23	DISEASES inferred ¹⁵

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Variations for Long Qt Syndrome 14

ClinVar genetic disease variations for Long Qt Syndrome 14:

⁶ (show all 16)

#	Gene	Variation	Type	Significance	SNP ID	GRCh37 Pos	GRCh38 Pos
1	CALM1	NM_006888.6(CALM1): c.389A> G (p.Asp130Gly)	single nucleotide variant	Pathogenic	rs730882252	14:90870826-90870826	14:90404482-90404482
2	CALM1	NM_006888.6(CALM1): c.426C> G (p.Phe142Leu)	single nucleotide variant	Pathogenic	rs199744595	14:90871037-90871037	14:90404693-90404693
3	CALM1	NM_006888.6(CALM1): c.268T> C (p.Phe90Leu)	single nucleotide variant	Pathogenic	rs730882253	14:90870295-90870295	14:90403951-90403951
4	CALM1	NM_006888.6(CALM1): c.394G> A (p.Asp132Asn)	single nucleotide variant	Pathogenic		14:90870831-90870831	14:90404487-90404487
5	CALM1	NM_006888.6(CALM1): c.293A> G (p.Asn98Ser)	single nucleotide variant	Pathogenic/Likely pathogenic	rs267607277	14:90870730-90870730	14:90404386-90404386
6	CALM1	NM_006888.6(CALM1): c.398G> A (p.Gly133Glu)	single nucleotide variant	Likely pathogenic	rs1555366045	14:90870835-90870835	14:90404491-90404491
7	CALM1	NM_006888.6(CALM1): c.72C> T (p.Gly24=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs267607278	14:90867640-90867640	14:90401296-90401296
8	CALM1	NM_006888.6(CALM1): c.78C> T (p.Gly26=)	single nucleotide variant	Uncertain significance	rs1555365884	14:90867646-90867646	14:90401302-90401302
9	CALM1	NM_006888.6(CALM1): c.157A> G (p.Ile53Val)	single nucleotide variant	Uncertain significance	rs1555365887	14:90867725-90867725	14:90401381-90401381
10	CALM1	NM_006888.6(CALM1): c.301A> G (p.Ile101Val)	single nucleotide variant	Uncertain significance		14:90870738-90870738	14:90404394-90404394
11	CALM1	NM_006888.6(CALM1): c.69T> C (p.Asp23=)	single nucleotide variant	Likely benign	rs144339242	14:90867637-90867637	14:90401293-90401293
12	CALM1	NM_006888.6(CALM1): c.324C> T (p.His108=)	single nucleotide variant	Likely benign	rs139706811	14:90870761-90870761	14:90404417-90404417
13	CALM1	NM_006888.6(CALM1): c.273A> G (p.Arg91=)	single nucleotide variant	Likely benign	rs1211887414	14:90870300-90870300	14:90403956-90403956
14	CALM1	NM_006888.6(CALM1): c.411C> G (p.Val137=)	single nucleotide variant	Likely benign	rs749827346	14:90870848-90870848	14:90404504-90404504
15	CALM1	NM_006888.6(CALM1): c.4-10C> G	single nucleotide variant	Benign/Likely benign	rs191723671	14:90866399-90866399	14:90400055-90400055
16	CALM1	NM_006888.6(CALM1): c.303C> T (p.Ile101=)	single nucleotide variant	Benign/Likely benign	rs143503733	14:90870740-90870740	14:90404396-90404396

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

⁷⁴

#	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

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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	CALM1 ANK2

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	CALM1 ANK2
2	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	GO:0010881	8.96	CALM1 ANK2
3	regulation of cardiac muscle contraction	GO:0055117	8.62	CALM1 ANK2

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	CALM1 ANK2
2	ion channel binding	GO:0044325	8.62	CALM1 ANK2

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 FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ 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

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

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