LQT14
MCID: LNG098
MIFTS: 29

Long Qt Syndrome 14 (LQT14)

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

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:



External Ids:

Disease Ontology 12 DOID:0110655
MeSH 44 D008133
ICD10 33 I45.8
UMLS 72 C4015671

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

Related Diseases for Long Qt Syndrome 14

Graphical network of the top 20 diseases related to Long Qt Syndrome 14:



Diseases related to Long Qt Syndrome 14

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

Drugs & Therapeutics for Long Qt Syndrome 14

Search Clinical Trials , NIH Clinical Center for Long Qt Syndrome 14

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

Anatomical Context for Long Qt Syndrome 14

MalaCards organs/tissues related to Long Qt Syndrome 14:

41
Heart, Testes

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
24076290 2014
2
Calmodulin mutations associated with recurrent cardiac arrest in infants. 8 71
23388215 2013
3
Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. 71
23994779 2013
4
Long QT Syndrome 71
20301308 2003

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

Expression for Long Qt Syndrome 14

Search GEO for disease gene expression data 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:

# 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 for Long Qt Syndrome 14

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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