Long Qt Syndrome 16 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Long Qt Syndrome 16

MalaCards integrated aliases for Long Qt Syndrome 16:

Name: Long Qt Syndrome 16 ⁵⁷ ⁷³ ²⁸ ⁵ ³⁸

Ventricular Tachycardia, Catecholaminergic Polymorphic, 6 ⁷³ ²⁸ ⁵

Lqt16 ⁵⁷ ⁷³

Ventricular Tachycardia, Catecholaminergic Polymorphic 6 ⁵⁷

Cpvt6 ⁷³

Characteristics:

Inheritance:

Autosomal dominant ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
sudden death may occur
cpvt6 is based on report of 1 family (last curated february 2020)
fetal bradycardia may be detected (in lqt16 patients)
onset at birth or neonatal period (in lqt16 patients)
onset in childhood (in cpvt6 patients)
structural cardiac defects have been reported in some lqt16 patients
de novo mutation (in most lqt16 patients)
somatic mosaicism in unaffected parents seen of some lqt16 patients has been reported

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 618782

OMIM Phenotypic Series ⁵⁷ PS192500,PS604772

MeSH ⁴³ D008133 D017180

MedGen ⁴⁰ C5394068 CN263287 CN263316

SNOMED-CT via HPO ⁶⁹ 109428005 195042002 428550008 more

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Summaries for Long Qt Syndrome 16

UniProtKB/Swiss-Prot ⁷³ Long qt syndrome 16: An autosomal dominant 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.

Ventricular tachycardia, catecholaminergic polymorphic, 6: An arrhythmogenic disorder characterized by stress-induced, bidirectional ventricular tachycardia that may degenerate into cardiac arrest and cause sudden death. Patients present with recurrent syncope, seizures, or sudden death after physical activity or emotional stress. CPVT6 inheritance is autosomal dominant.

MalaCards based summary: Long Qt Syndrome 16, also known as ventricular tachycardia, catecholaminergic polymorphic, 6, is related to long qt syndrome 14 and long qt syndrome 15. An important gene associated with Long Qt Syndrome 16 is CALM3 (Calmodulin 3). Affiliated tissues include heart, and related phenotypes are bradycardia and perimembranous ventricular septal defect

More information from OMIM: 618782 PS192500,PS604772

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Related Diseases for Long Qt Syndrome 16

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

#	Related Disease	Score	Top Affiliating Genes
1	long qt syndrome 14	11.0
2	long qt syndrome 15	11.0

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Symptoms & Phenotypes for Long Qt Syndrome 16

Human phenotypes related to Long Qt Syndrome 16:

³⁰ (show all 6)

#	Description	HPO Frequency	HPO Source Accession
1	bradycardia ³⁰	Very rare (1%)	HP:0001662
2	perimembranous ventricular septal defect ³⁰	Very rare (1%)	HP:0011682
3	second degree atrioventricular block ³⁰	Very rare (1%)	HP:0011706
4	prolonged qtc interval ³⁰	Very rare (1%)	HP:0005184
5	patent ductus arteriosus after birth at term ³⁰	Very rare (1%)	HP:0011648
6	t-wave alternans ³⁰	Very rare (1%)	HP:0012266

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Cardiovascular Heart:
prolonged qt interval
syncope
bradycardia
ventricular fibrillation
ventricular arrhythmias
more

Clinical features from OMIM®:

618782 (Updated 08-Dec-2022)

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Drugs & Therapeutics for Long Qt Syndrome 16

Search Clinical Trials, NIH Clinical Center for Long Qt Syndrome 16

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Genetic Tests for Long Qt Syndrome 16

Genetic tests related to Long Qt Syndrome 16:

#	Genetic test	Affiliating Genes
1	Long Qt Syndrome 16 ²⁸	CALM3
2	Ventricular Tachycardia, Catecholaminergic Polymorphic, 6 ²⁸

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Anatomical Context for Long Qt Syndrome 16

Organs/tissues related to Long Qt Syndrome 16:

MalaCards : Heart

Sources

Publications for Long Qt Syndrome 16

Articles related to Long Qt Syndrome 16:

#	Title	Authors	PMID	Year
1	Novel CPVT-Associated Calmodulin Mutation in CALM3 (CALM3-A103V) Activates Arrhythmogenic Ca Waves and Sparks. ⁵⁷ ⁵	Gomez-Hurtado N...Knollmann BC	27516456	2016
2	CALM3 mutation associated with long QT syndrome. ⁵⁷ ⁵	Reed GJ...Ackerman MJ	25460178	2015
3	Genetic Mosaicism in Calmodulinopathy. ⁵⁷	Wren LM...George AL	31454269	2019
4	Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry. ⁵⁷	Crotti L...Schwartz PJ	31170290	2019
5	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	Boczek NJ...Ackerman MJ	26969752	2016

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Genes for Long Qt Syndrome 16

Genes related to Long Qt Syndrome 16 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CALM3	Calmodulin 3	Protein Coding	1357.94	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Unconfirmed association ⁵⁷ GeneCards inferred via : Disorders (show sections)	25460178 27516456

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Variations for Long Qt Syndrome 16

ClinVar genetic disease variations for Long Qt Syndrome 16:

⁵

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	CALM3	NM_005184.4(CALM3):c.389A>G (p.Asp130Gly)	SNV	Pathogenic	812676	rs1599759554	GRCh37: 19:47112206-47112206 GRCh38: 19:46608949-46608949
2	CALM3	NM_005184.4(CALM3):c.421G>A (p.Glu141Lys)	SNV	Pathogenic	812678	rs1599759598	GRCh37: 19:47112238-47112238 GRCh38: 19:46608981-46608981
3	CALM3	A103V	VAR	Pathogenic	812677		GRCh37: GRCh38:
4	CALM3	NM_005184.4(CALM3):c.4-73T>C	SNV	Benign	678453	rs3729510	GRCh37: 19:47109011-47109011 GRCh38: 19:46605754-46605754
5	CALM3	NM_005184.4(CALM3):c.178+66T>C	SNV	Benign	678454	rs3729760	GRCh37: 19:47111663-47111663 GRCh38: 19:46608406-46608406

UniProtKB/Swiss-Prot genetic disease variations for Long Qt Syndrome 16:

⁷³

#	Symbol	AA change	Variation ID
1	CALM3	p.Ala103Val	VAR_078261
2	CALM3	p.Asp130Gly	VAR_083815
3	CALM3	p.Glu141Lys	VAR_083816

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Expression for Long Qt Syndrome 16

Search GEO for disease gene expression data for Long Qt Syndrome 16.

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Pathways for Long Qt Syndrome 16

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GO Terms for Long Qt Syndrome 16

Sources

Sources for Long Qt Syndrome 16

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

LQT16 MCID: LNG114 MIFTS: 25	Long Qt Syndrome 16 (LQT16) 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 16 (LQT16)

Aliases & Classifications for Long Qt Syndrome 16

MalaCards integrated aliases for Long Qt Syndrome 16:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Long Qt Syndrome 16

Related Diseases for Long Qt Syndrome 16

Diseases in the Long Qt Syndrome family:

Diseases related to Long Qt Syndrome 16 via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Long Qt Syndrome 16

Human phenotypes related to Long Qt Syndrome 16:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Long Qt Syndrome 16

Genetic Tests for Long Qt Syndrome 16

Genetic tests related to Long Qt Syndrome 16:

Anatomical Context for Long Qt Syndrome 16

Organs/tissues related to Long Qt Syndrome 16:

Publications for Long Qt Syndrome 16

Articles related to Long Qt Syndrome 16:

Genes for Long Qt Syndrome 16

Genes related to Long Qt Syndrome 16 (1 elite genes):

Variations for Long Qt Syndrome 16

ClinVar genetic disease variations for Long Qt Syndrome 16:

UniProtKB/Swiss-Prot genetic disease variations for Long Qt Syndrome 16:

Expression for Long Qt Syndrome 16

Pathways for Long Qt Syndrome 16

GO Terms for Long Qt Syndrome 16

Sources for Long Qt Syndrome 16