LQT14
MCID: LNG098
MIFTS: 27

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 58 12 76 30 6 15 74
Lqt14 58 12 76
Long Qt Syndrome, Type 14 41

Characteristics:

OMIM:

58
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:

33
long qt syndrome 14:
Mortality/Aging sudden death
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110655
OMIM 58 616247
MeSH 45 D008133
ICD10 34 I45.8
UMLS 74 C4015671

Summaries for Long Qt Syndrome 14

UniProtKB/Swiss-Prot : 76 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 ventricular fibrillation

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

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:

33
# Description HPO Frequency HPO Source Accession
1 cardiac arrest 33 occasional (7.5%) HP:0001695
2 ventricular fibrillation 33 HP:0001663
3 prolonged qtc interval 33 HP:0005184

Symptoms via clinical synopsis from OMIM:

58
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 30 CALM1

Anatomical Context for Long Qt Syndrome 14

MalaCards organs/tissues related to Long Qt Syndrome 14:

42
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:

76
# 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.72C> T (p.Gly24=) single nucleotide variant Conflicting interpretations of pathogenicity rs267607278 GRCh37 Chromosome 14, 90867640: 90867640
2 CALM1 NM_006888.4(CALM1): c.72C> T (p.Gly24=) single nucleotide variant Conflicting interpretations of pathogenicity rs267607278 GRCh38 Chromosome 14, 90401296: 90401296
3 CALM1 NM_006888.4(CALM1): c.389A> G (p.Asp130Gly) single nucleotide variant Pathogenic rs730882252 GRCh37 Chromosome 14, 90870826: 90870826
4 CALM1 NM_006888.4(CALM1): c.389A> G (p.Asp130Gly) single nucleotide variant Pathogenic rs730882252 GRCh38 Chromosome 14, 90404482: 90404482
5 CALM1 NM_006888.4(CALM1): c.426C> G (p.Phe142Leu) single nucleotide variant Pathogenic rs199744595 GRCh37 Chromosome 14, 90871037: 90871037
6 CALM1 NM_006888.4(CALM1): c.426C> G (p.Phe142Leu) single nucleotide variant Pathogenic rs199744595 GRCh38 Chromosome 14, 90404693: 90404693
7 CALM1 NM_006888.4(CALM1): c.268T> C (p.Phe90Leu) single nucleotide variant Pathogenic rs730882253 GRCh37 Chromosome 14, 90870295: 90870295
8 CALM1 NM_006888.4(CALM1): c.268T> C (p.Phe90Leu) single nucleotide variant Pathogenic rs730882253 GRCh38 Chromosome 14, 90403951: 90403951
9 CALM1 NM_006888.5(CALM1): c.293A> G (p.Asn98Ser) single nucleotide variant Pathogenic/Likely pathogenic rs267607277 GRCh37 Chromosome 14, 90870730: 90870730
10 CALM1 NM_006888.5(CALM1): c.293A> G (p.Asn98Ser) single nucleotide variant Pathogenic/Likely pathogenic rs267607277 GRCh38 Chromosome 14, 90404386: 90404386
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 GRCh37 Chromosome 14, 90866399: 90866399
14 CALM1 NM_006888.4(CALM1): c.4-10C> G single nucleotide variant Benign/Likely benign rs191723671 GRCh38 Chromosome 14, 90400055: 90400055
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 rs1555365884 GRCh38 Chromosome 14, 90401302: 90401302
18 CALM1 NM_006888.4(CALM1): c.78C> T (p.Gly26=) single nucleotide variant Uncertain significance rs1555365884 GRCh37 Chromosome 14, 90867646: 90867646
19 CALM1 NM_006888.4(CALM1): c.157A> G (p.Ile53Val) single nucleotide variant Uncertain significance rs1555365887 GRCh38 Chromosome 14, 90401381: 90401381
20 CALM1 NM_006888.4(CALM1): c.157A> G (p.Ile53Val) single nucleotide variant Uncertain significance rs1555365887 GRCh37 Chromosome 14, 90867725: 90867725
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 rs1555366045 GRCh38 Chromosome 14, 90404491: 90404491
24 CALM1 NM_006888.4(CALM1): c.398G> A (p.Gly133Glu) single nucleotide variant Likely pathogenic rs1555366045 GRCh37 Chromosome 14, 90870835: 90870835
25 CALM1 NM_006888.4(CALM1): c.273A> G (p.Arg91=) single nucleotide variant Likely benign rs1211887414 GRCh38 Chromosome 14, 90403956: 90403956
26 CALM1 NM_006888.4(CALM1): c.273A> G (p.Arg91=) single nucleotide variant Likely benign rs1211887414 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

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 ANK2 CALM1

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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