MCID: LNG098
MIFTS: 26

Long Qt Syndrome 14

Categories: Genetic diseases, Cardiovascular 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 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:



External Ids:

OMIM 57 616247
Disease Ontology 12 DOID:0110655
ICD10 33 I45.8
MeSH 44 D008133
UMLS 73 C4015671

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

Related Diseases for Long Qt Syndrome 14

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

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

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

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

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

Sources for Long Qt Syndrome 14

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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