LQT16
MCID: LNG114
MIFTS: 25

Long Qt Syndrome 16 (LQT16)

Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Muscle diseases, Rare diseases
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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:



External Ids:

OMIM® 57 618782
OMIM Phenotypic Series 57 PS192500,PS604772

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

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

Symptoms & Phenotypes for Long Qt Syndrome 16

Human phenotypes related to Long Qt Syndrome 16:

30 (show all 6)
# Description HPO Frequency Orphanet 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)

Drugs & Therapeutics for Long Qt Syndrome 16

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

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

Anatomical Context for Long Qt Syndrome 16

Organs/tissues related to Long Qt Syndrome 16:

MalaCards : Heart

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
27516456 2016
2
CALM3 mutation associated with long QT syndrome. 57 5
25460178 2015
3
Genetic Mosaicism in Calmodulinopathy. 57
31454269 2019
4
Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry. 57
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
26969752 2016

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 SNP ID
1 CALM3 p.Ala103Val VAR_078261
2 CALM3 p.Asp130Gly VAR_083815
3 CALM3 p.Glu141Lys VAR_083816

Expression for Long Qt Syndrome 16

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

Pathways for Long Qt Syndrome 16

GO Terms for Long Qt Syndrome 16

Sources for Long Qt Syndrome 16

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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