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 ⁷⁵ ²⁹ ⁶ ¹⁵ ⁷³

Lqt14 ⁵⁷ ¹² ⁷⁵

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:
Inheritance autosomal dominant inheritance
Mortality/Aging sudden death

Classifications:

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

OMIM ⁵⁷ 616247

Disease Ontology ¹² DOID:0110655

ICD10 ³³ I45.8

MedGen ⁴² C4015671 CN228133

MeSH ⁴⁴ D008133

SNOMED-CT via HPO ⁶⁹ 263681008 111975006 397829000 more

UMLS ⁷³ C4015671

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Summaries for Long Qt Syndrome 14

UniProtKB/Swiss-Prot : ⁷⁵ 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 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy and catecholaminergic polymorphic ventricular tachycardia. An important gene associated with Long Qt Syndrome 14 is CALM1 (Calmodulin 1). Affiliated tissues include heart and testes, and related phenotypes are prolonged qt interval and cardiac arrest

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	ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	9.4	ANK2 CALM1
2	catecholaminergic polymorphic ventricular tachycardia	9.3	ANK2 CALM1
3	long qt syndrome 1	9.2	ANK2 CALM1
4	long qt syndrome	9.0	ANK2 CALM1

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Symptoms & Phenotypes for Long Qt Syndrome 14

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Clinical features from OMIM:

616247

Human phenotypes related to Long Qt Syndrome 14:

³²

#	Description	HPO Frequency	HPO Source Accession
1	prolonged qt interval ³²		HP:0001657
2	cardiac arrest ³²	occasional (7.5%)	HP:0001695

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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

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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	1353.64	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	23388215 20301308 24076290
2	ANK2	Ankyrin 2	Protein Coding	17.32	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)

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Variations for Long Qt Syndrome 14

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

⁷⁵

#	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_006888.4(CALM1): c.293A> G (p.Asn98Ser)	single nucleotide variant	Pathogenic/Likely pathogenic	rs267607277	GRCh37	Chromosome 14, 90870730: 90870730
2	CALM1	NM_006888.4(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_006888.4(CALM1): c.389A> G (p.Asp130Gly)	single nucleotide variant	Pathogenic	rs730882252	GRCh37	Chromosome 14, 90870826: 90870826
6	CALM1	NM_006888.4(CALM1): c.389A> G (p.Asp130Gly)	single nucleotide variant	Pathogenic	rs730882252	GRCh38	Chromosome 14, 90404482: 90404482
7	CALM1	NM_006888.4(CALM1): c.426C> G (p.Phe142Leu)	single nucleotide variant	Pathogenic	rs199744595	GRCh37	Chromosome 14, 90871037: 90871037
8	CALM1	NM_006888.4(CALM1): c.426C> G (p.Phe142Leu)	single nucleotide variant	Pathogenic	rs199744595	GRCh38	Chromosome 14, 90404693: 90404693
9	CALM1	NM_006888.4(CALM1): c.268T> C (p.Phe90Leu)	single nucleotide variant	Pathogenic	rs730882253	GRCh37	Chromosome 14, 90870295: 90870295
10	CALM1	NM_006888.4(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	GRCh38	Chromosome 14, 90400055: 90400055
14	CALM1	NM_006888.4(CALM1): c.4-10C> G	single nucleotide variant	Benign/Likely benign	rs191723671	GRCh37	Chromosome 14, 90866399: 90866399
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		GRCh38	Chromosome 14, 90401302: 90401302
18	CALM1	NM_006888.4(CALM1): c.78C> T (p.Gly26=)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 14, 90867646: 90867646
19	CALM1	NM_006888.4(CALM1): c.157A> G (p.Ile53Val)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 14, 90867725: 90867725
20	CALM1	NM_006888.4(CALM1): c.157A> G (p.Ile53Val)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 14, 90401381: 90401381
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		GRCh37	Chromosome 14, 90870835: 90870835
24	CALM1	NM_006888.4(CALM1): c.398G> A (p.Gly133Glu)	single nucleotide variant	Likely pathogenic		GRCh38	Chromosome 14, 90404491: 90404491
25	CALM1	NM_006888.4(CALM1): c.273A> G (p.Arg91=)	single nucleotide variant	Likely benign		GRCh38	Chromosome 14, 90403956: 90403956
26	CALM1	NM_006888.4(CALM1): c.273A> G (p.Arg91=)	single nucleotide variant	Likely benign		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

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

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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 ExPASy

¹⁸ FDA Approved Drugs

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 SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia