LQT16
MCID: LNG114
MIFTS: 22

Long Qt Syndrome 16 (LQT16)

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

Aliases & Classifications for Long Qt Syndrome 16

MalaCards integrated aliases for Long Qt Syndrome 16:

Name: Long Qt Syndrome 16 56 73 6
Ventricular Tachycardia, Catecholaminergic Polymorphic, 6 73 6
Lqt16 56 73
Ventricular Tachycardia, Catecholaminergic Polymorphic 6 56
Cpvt6 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
long qt syndrome 16:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 618782
OMIM Phenotypic Series 56 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 perimembranous ventricular septal defect and bradycardia

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 11.3
2 long qt syndrome 15 11.3

Symptoms & Phenotypes for Long Qt Syndrome 16

Human phenotypes related to Long Qt Syndrome 16:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 perimembranous ventricular septal defect 31 very rare (1%) HP:0011682
2 bradycardia 31 very rare (1%) HP:0001662
3 second degree atrioventricular block 31 very rare (1%) HP:0011706
4 prolonged qtc interval 31 very rare (1%) HP:0005184
5 patent ductus arteriosus after birth at term 31 very rare (1%) HP:0011648
6 t-wave alternans 31 very rare (1%) HP:0012266

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Heart:
prolonged qt interval
syncope
bradycardia
ventricular fibrillation
ventricular arrhythmias
more

Clinical features from OMIM:

618782

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

Anatomical Context for Long Qt Syndrome 16

MalaCards organs/tissues related to Long Qt Syndrome 16:

40
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. 56 6
27516456 2016
2
CALM3 mutation associated with long QT syndrome. 6 56
25460178 2015
3
Genetic Mosaicism in Calmodulinopathy. 6
31454269 2019
4
Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry. 56
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. 56
26969752 2016
6
Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. 6
23994779 2013
7
Catecholaminergic Polymorphic Ventricular Tachycardia 6
20301466 2004

Variations for Long Qt Syndrome 16

ClinVar genetic disease variations for Long Qt Syndrome 16:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CALM3 NM_005184.4(CALM3):c.389A>G (p.Asp130Gly)SNV Pathogenic 812676 19:47112206-47112206 19:46608949-46608949
2 CALM3 CALM3, ALA103VALundetermined variant Pathogenic 812677
3 CALM3 NM_005184.4(CALM3):c.421G>A (p.Glu141Lys)SNV Pathogenic 812678 19:47112238-47112238 19:46608981-46608981

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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