LQT14
MCID: LNG098
MIFTS: 38

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 56 12 73 29 6 15 71
Lqt14 56 12 73
Long Qt Syndrome, Type 14 39

Characteristics:

OMIM:

56
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:

31
long qt syndrome 14:
Clinical modifier sudden death
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110655
OMIM 56 616247
OMIM Phenotypic Series 56 PS192500
MeSH 43 D008133
ICD10 32 I45.8
UMLS 71 C4015671

Summaries for Long Qt Syndrome 14

UniProtKB/Swiss-Prot : 73 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 sinoatrial node disease and long qt syndrome 6. An important gene associated with Long Qt Syndrome 14 is CALM1 (Calmodulin 1), and among its related pathways/superpathways are Cardiac conduction and Ion channel transport. 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

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 Familial Long Qt Syndrome

Diseases related to Long Qt Syndrome 14 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 sinoatrial node disease 9.8 SCN1B ANK2
2 long qt syndrome 6 9.8 KCNE1 ANK2
3 long qt syndrome 13 9.8 KCNE1 ANK2
4 long qt syndrome 12 9.8 KCNE1 ANK2
5 long qt syndrome 11 9.8 KCNE1 ANK2
6 long qt syndrome 5 9.8 KCNE1 ANK2
7 long qt syndrome 9 9.7 KCNE1 ANK2
8 jervell and lange-nielsen syndrome 1 9.7 KCNE1 ANK2
9 timothy syndrome 9.6 KCNE1 ANK2
10 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.6 TRDN CALM1 ANK2
11 long qt syndrome 3 9.6 SCN1B KCNE1 ANK2
12 atrial fibrillation 9.6 SCN1B KCNE1 ANK2
13 hypokalemic periodic paralysis, type 1 9.6 TRDN KCNE4 KCNE1
14 cardiac arrhythmia 9.5 KCNE1 ANK2
15 short qt syndrome 9.5 SCN1B KCNE1 ANK2
16 sick sinus syndrome 9.5 SCN1B ANK2
17 andersen cardiodysrhythmic periodic paralysis 9.5 TRDN KCNE1 ANK2
18 cardiac arrest 9.4 TRDN CALM3 CALM1 ANK2
19 familial atrial fibrillation 9.2 SCN1B KCNE4 KCNE1 ANK2
20 long qt syndrome 2 9.2 TRDN SCN1B KCNE1 ANK2
21 heart conduction disease 9.2 TRDN SCN1B KCNE1 ANK2
22 long qt syndrome 15 9.2 TRDN SCN1B KCNE1 CALM3 CALM1
23 brugada syndrome 8.9 TRDN SCN1B KCNE4 KCNE1 ANK2
24 long qt syndrome 8.7 TRDN SCN1B KCNE1 CALM3 CALM1 ANK2
25 catecholaminergic polymorphic ventricular tachycardia 8.7 TRDN SCN1B KCNE1 CALM3 CALM1 ANK2
26 long qt syndrome 1 8.4 TRDN SCN1B KCNE4 KCNE1 CALM3 CALM1

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:

31
# Description HPO Frequency HPO Source Accession
1 cardiac arrest 31 occasional (7.5%) HP:0001695
2 prolonged qtc interval 31 HP:0005184
3 ventricular fibrillation 31 HP:0001663

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Heart:
sudden death (in some patients)
cardiac arrest (in some patients)
recurrent episodes of ventricular fibrillation
ventricular tachycardia, nonsustained (in some patients)
syncopal episodes (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:

40
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. 56 6
24076290 2014
2
Calmodulin mutations associated with recurrent cardiac arrest in infants. 56 6
23388215 2013
3
Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. 6
23994779 2013
4
Long QT Syndrome 6
20301308 2003

Variations for Long Qt Syndrome 14

ClinVar genetic disease variations for Long Qt Syndrome 14:

6 (show all 11) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CALM1 NM_006888.6(CALM1):c.389A>G (p.Asp130Gly)SNV Pathogenic 183230 rs730882252 14:90870826-90870826 14:90404482-90404482
2 CALM1 NM_006888.6(CALM1):c.426C>G (p.Phe142Leu)SNV Pathogenic 183231 rs199744595 14:90871037-90871037 14:90404693-90404693
3 CALM1 NM_006888.6(CALM1):c.268T>C (p.Phe90Leu)SNV Pathogenic 183232 rs730882253 14:90870295-90870295 14:90403951-90403951
4 CALM1 NM_006888.6(CALM1):c.394G>A (p.Asp132Asn)SNV Pathogenic 639902 14:90870831-90870831 14:90404487-90404487
5 CALM1 NM_006888.6(CALM1):c.293A>G (p.Asn98Ser)SNV Pathogenic/Likely pathogenic 39758 rs267607277 14:90870730-90870730 14:90404386-90404386
6 CALM1 NM_006888.6(CALM1):c.398G>A (p.Gly133Glu)SNV Likely pathogenic 542137 rs1555366045 14:90870835-90870835 14:90404491-90404491
7 CALM1 NM_006888.6(CALM1):c.72C>T (p.Gly24=)SNV Conflicting interpretations of pathogenicity 162063 rs267607278 14:90867640-90867640 14:90401296-90401296
8 CALM1 NM_006888.6(CALM1):c.301A>G (p.Ile101Val)SNV Uncertain significance 644229 14:90870738-90870738 14:90404394-90404394
9 CALM1 NM_006888.6(CALM1):c.78C>T (p.Gly26=)SNV Uncertain significance 475383 rs1555365884 14:90867646-90867646 14:90401302-90401302
10 CALM1 NM_006888.6(CALM1):c.157A>G (p.Ile53Val)SNV Uncertain significance 475380 rs1555365887 14:90867725-90867725 14:90401381-90401381
11 CALM1 NM_006888.6(CALM1):c.273A>G (p.Arg91=)SNV Likely benign 542138 rs1211887414 14:90870300-90870300 14:90403956-90403956

UniProtKB/Swiss-Prot genetic disease variations for Long Qt Syndrome 14:

73
# 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

Pathways related to Long Qt Syndrome 14 according to GeneCards Suite gene sharing:

(show all 23)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.36 TRDN SCN1B KCNE4 KCNE1 CALM3 CALM1
2
Show member pathways
12.28 TRDN CALM3 CALM1
3
Show member pathways
12.12 SCN1B KCNE1 CALM3 CALM1
4
Show member pathways
12.04 CAMKV CALM3 CALM1
5
Show member pathways
11.95 TRDN CALM3 CALM1
6 11.91 KCNE4 KCNE1 CALM3 CALM1
7
Show member pathways
11.61 CALM3 CALM1
8 11.31 CALM3 CALM1
9 11.15 CALM3 CALM1
10 11.14 CALM3 CALM1
11 11.12 CALM3 CALM1
12 11.09 CALM3 CALM1
13 11.05 CALM3 CALM1
14 11.02 SCN1B ANK2
15 11 SCN1B KCNE4 KCNE1 ANK2
16 10.99 CALM3 CALM1
17 10.97 CALM3 CALM1
18 10.96 CALM3 CALM1
19
Show member pathways
10.9 SCN1B KCNE4 KCNE1 CALM3 CALM1
20 10.8 CALM3 CALM1
21 10.71 CALM3 CALM1
22 10.68 CALM3 CALM1
23 10.48 CALM3 CALM1

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 plasma membrane GO:0005886 9.76 TRDN SCN1B MPP2 KCNE1 CAMKV CALM3
2 intercalated disc GO:0014704 9.43 SCN1B ANK2
3 T-tubule GO:0030315 9.4 SCN1B ANK2
4 spindle microtubule GO:0005876 9.37 CALM3 CALM1
5 myelin sheath GO:0043209 9.32 CALM3 CALM1
6 calcium channel complex GO:0034704 9.26 CALM3 CALM1
7 catalytic complex GO:1902494 8.96 CALM3 CALM1
8 voltage-gated potassium channel complex GO:0008076 8.8 KCNE4 KCNE1 CALM3

Biological processes related to Long Qt Syndrome 14 according to GeneCards Suite gene sharing:

(show all 38)
# Name GO ID Score Top Affiliating Genes
1 regulation of ion transmembrane transport GO:0034765 9.8 SCN1B KCNE4 KCNE1
2 positive regulation of protein serine/threonine kinase activity GO:0071902 9.68 CALM3 CALM1
3 cardiac conduction GO:0061337 9.67 SCN1B KCNE1
4 substantia nigra development GO:0021762 9.67 CALM3 CALM1
5 activation of adenylate cyclase activity GO:0007190 9.67 CALM3 CALM1
6 regulation of cytokinesis GO:0032465 9.66 CALM3 CALM1
7 response to amphetamine GO:0001975 9.66 CALM3 CALM1
8 positive regulation of peptidyl-threonine phosphorylation GO:0010800 9.65 CALM3 CALM1
9 positive regulation of protein dephosphorylation GO:0035307 9.65 CALM3 CALM1
10 positive regulation of nitric-oxide synthase activity GO:0051000 9.65 CALM3 CALM1
11 positive regulation of protein autophosphorylation GO:0031954 9.64 CALM3 CALM1
12 negative regulation of peptidyl-threonine phosphorylation GO:0010801 9.64 CALM3 CALM1
13 response to corticosterone GO:0051412 9.63 CALM3 CALM1
14 regulation of heart rate GO:0002027 9.63 CALM3 CALM1 ANK2
15 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.62 CALM3 CALM1
16 cardiac muscle cell action potential involved in contraction GO:0086002 9.62 SCN1B KCNE1
17 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.61 KCNE4 KCNE1
18 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.61 CALM3 CALM1
19 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.61 CALM3 CALM1 ANK2
20 regulation of release of sequestered calcium ion into cytosol GO:0051279 9.6 TRDN ANK2
21 regulation of synaptic vesicle endocytosis GO:1900242 9.59 CALM3 CALM1
22 potassium ion export across plasma membrane GO:0097623 9.58 KCNE4 KCNE1
23 establishment of protein localization to membrane GO:0090150 9.58 CALM3 CALM1
24 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.58 TRDN CALM3 CALM1
25 detection of calcium ion GO:0005513 9.57 CALM3 CALM1
26 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.56 KCNE4 KCNE1
27 membrane repolarization during action potential GO:0086011 9.55 KCNE4 KCNE1
28 regulation of cell communication by electrical coupling involved in cardiac conduction GO:1901844 9.54 CALM3 CALM1
29 regulation of cardiac muscle contraction GO:0055117 9.54 CALM3 CALM1 ANK2
30 regulation of high voltage-gated calcium channel activity GO:1901841 9.52 CALM3 CALM1
31 positive regulation of cyclic-nucleotide phosphodiesterase activity GO:0051343 9.51 CALM3 CALM1
32 ventricular cardiac muscle cell action potential GO:0086005 9.5 KCNE4 KCNE1 ANK2
33 positive regulation by host of symbiont cAMP-mediated signal transduction GO:0075206 9.49 CALM3 CALM1
34 establishment of protein localization to mitochondrial membrane GO:0090151 9.48 CALM3 CALM1
35 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.43 TRDN CALM3 CALM1
36 positive regulation of ryanodine-sensitive calcium-release channel activity GO:0060316 9.33 TRDN CALM3 CALM1
37 regulation of heart rate by cardiac conduction GO:0086091 9.26 SCN1B KCNE4 KCNE1 ANK2
38 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 8.92 SCN1B KCNE4 KCNE1 ANK2

Molecular functions related to Long Qt Syndrome 14 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 potassium channel regulator activity GO:0015459 9.55 KCNE4 KCNE1
2 disordered domain specific binding GO:0097718 9.54 CALM3 CALM1
3 delayed rectifier potassium channel activity GO:0005251 9.52 KCNE4 KCNE1
4 protein serine/threonine kinase activator activity GO:0043539 9.51 CALM3 CALM1
5 phosphatidylinositol 3-kinase binding GO:0043548 9.49 CALM3 CALM1
6 nitric-oxide synthase binding GO:0050998 9.48 CALM3 CALM1
7 titin binding GO:0031432 9.46 CALM3 CALM1
8 adenylate cyclase binding GO:0008179 9.43 CALM3 CALM1
9 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.4 KCNE4 KCNE1
10 protein phosphatase activator activity GO:0072542 9.37 CALM3 CALM1
11 nitric-oxide synthase regulator activity GO:0030235 9.32 CALM3 CALM1
12 adenylate cyclase activator activity GO:0010856 9.26 CALM3 CALM1
13 ion channel binding GO:0044325 9.23 TRDN SCN1B MPP2 KCNE4 KCNE1 CALM3
14 N-terminal myristoylation domain binding GO:0031997 9.16 CALM3 CALM1
15 type 3 metabotropic glutamate receptor binding GO:0031800 8.96 CALM3 CALM1

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 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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