LQT4
MCID: CRD054
MIFTS: 26

Cardiac Arrhythmia, Ankyrin-B-Related (LQT4)

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Cardiac Arrhythmia, Ankyrin-B-Related

MalaCards integrated aliases for Cardiac Arrhythmia, Ankyrin-B-Related:

Name: Cardiac Arrhythmia, Ankyrin-B-Related 58 54 26 13 74
Long Qt Syndrome 4 58 54 76 30 6 74
Cardiac Arrhythmia, Ankyrin B-Related 30 6 41
Ankyrin-B Syndrome 58 54 26
Lqt4 54 76
Sick Sinus Syndrome with Bradycardia 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see lqt1 )


HPO:

33
cardiac arrhythmia, ankyrin-b-related:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Cardiac Arrhythmia, Ankyrin-B-Related

OMIM : 58 Loss-of-function mutations in ANK2 can result in a broad spectrum of clinical cardiac phenotypes. Carriers of some mutations (e.g., E1425G, 106410.0001) display QT interval prolongation, stress- and/or exercise-induced polymorphic ventricular arrhythmia, syncope, and sudden cardiac death. Patients with other variants show clinical phenotypes, sometimes mild, extending beyond LQTS, leading to the label 'ankyrin-B syndrome.' These phenotypes include bradycardia, sinus arrhythmia, delayed conduction/conduction block, idiopathic ventricular fibrillation, and catecholaminergic polymorphic ventricular tachycardia (Mohler et al., 2007). (600919)

MalaCards based summary : Cardiac Arrhythmia, Ankyrin-B-Related, also known as long qt syndrome 4, is related to sinoatrial node disease and atrial fibrillation, and has symptoms including syncope An important gene associated with Cardiac Arrhythmia, Ankyrin-B-Related is ANK2 (Ankyrin 2). Affiliated tissues include heart, and related phenotypes are sudden cardiac death and prolonged qt interval

Genetics Home Reference : 26 Ankyrin-B syndrome is associated with a variety of heart problems related to disruption of the heart's normal rhythm (arrhythmia). Heart rhythm is controlled by electrical signals that move through the heart in a highly coordinated way. In ankyrin-B syndrome, disruption of different steps of electrical signaling can lead to arrhythmia, and the resulting heart problems vary among affected individuals.

UniProtKB/Swiss-Prot : 76 Long QT syndrome 4: 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. Long QT syndrome type 4 shows many atypical features compared to classical long QT syndromes, including pronounced sinus bradycardia, polyphasic T waves and atrial fibrillation. Cardiac repolarization defects may be not as severe as in classical LQT syndromes and prolonged QT interval on EKG is not a consistent feature.

Related Diseases for Cardiac Arrhythmia, Ankyrin-B-Related

Diseases related to Cardiac Arrhythmia, Ankyrin-B-Related via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 sinoatrial node disease 10.1
2 atrial fibrillation 10.1
3 sick sinus syndrome 10.1
4 heart disease 10.0
5 long qt syndrome 10.0

Graphical network of the top 20 diseases related to Cardiac Arrhythmia, Ankyrin-B-Related:



Diseases related to Cardiac Arrhythmia, Ankyrin-B-Related

Symptoms & Phenotypes for Cardiac Arrhythmia, Ankyrin-B-Related

Human phenotypes related to Cardiac Arrhythmia, Ankyrin-B-Related:

33
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 33 HP:0001645
2 prolonged qt interval 33 HP:0001657
3 syncope 33 HP:0001279
4 atrial fibrillation 33 HP:0005110
5 sinus bradycardia 33 HP:0001688

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
sudden cardiac death
syncope
atrial fibrillation
sinus bradycardia
prolong qt interval on ekg
more

Clinical features from OMIM:

600919

UMLS symptoms related to Cardiac Arrhythmia, Ankyrin-B-Related:


syncope

Drugs & Therapeutics for Cardiac Arrhythmia, Ankyrin-B-Related

Search Clinical Trials , NIH Clinical Center for Cardiac Arrhythmia, Ankyrin-B-Related

Genetic Tests for Cardiac Arrhythmia, Ankyrin-B-Related

Genetic tests related to Cardiac Arrhythmia, Ankyrin-B-Related:

# Genetic test Affiliating Genes
1 Cardiac Arrhythmia, Ankyrin B-Related 30 ANK2
2 Long Qt Syndrome 4 30

Anatomical Context for Cardiac Arrhythmia, Ankyrin-B-Related

MalaCards organs/tissues related to Cardiac Arrhythmia, Ankyrin-B-Related:

42
Heart

Publications for Cardiac Arrhythmia, Ankyrin-B-Related

Articles related to Cardiac Arrhythmia, Ankyrin-B-Related:

# Title Authors Year
1
Novel Variant in the ANK2 Membrane-Binding Domain Is Associated With Ankyrin-B Syndrome and Structural Heart Disease in a First Nations Population With a High Rate of Long QT Syndrome. ( 28196901 )
2017
2
Ankyrin-B syndrome: a case of sinus node dysfunction, atrial fibrillation and prolonged QT in a young adult. ( 25456501 )
2015
3
Atrial fibrillation and sinus node dysfunction in human ankyrin-B syndrome: a computational analysis. ( 23436330 )
2013
4
CaMKII inhibition rescues proarrhythmic phenotypes in the model of human ankyrin-B syndrome. ( 23059182 )
2012
5
Defining the cellular phenotype of "ankyrin-B syndrome" variants: human ANK2 variants associated with clinical phenotypes display a spectrum of activities in cardiomyocytes. ( 17242276 )
2007
6
Ankyrin-B syndrome: enhanced cardiac function balanced by risk of cardiac death and premature senescence. ( 17940615 )
2007
7
A cardiac arrhythmia syndrome caused by loss of ankyrin-B function. ( 15178757 )
2004
8
Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. ( 12571597 )
2003
9
Concealed arrhythmogenic syndromes: the hidden substrate of idiopathic ventricular fibrillation? ( 11334825 )
2001

Variations for Cardiac Arrhythmia, Ankyrin-B-Related

UniProtKB/Swiss-Prot genetic disease variations for Cardiac Arrhythmia, Ankyrin-B-Related:

76
# Symbol AA change Variation ID SNP ID
1 ANK2 p.Leu3740Ile VAR_022935 rs35530544
2 ANK2 p.Thr3744Asn VAR_022936 rs121912705
3 ANK2 p.Arg3906Trp VAR_022937 rs121912706
4 ANK2 p.Glu3931Lys VAR_022938 rs45454496

ClinVar genetic disease variations for Cardiac Arrhythmia, Ankyrin-B-Related:

6 (show top 50) (show all 82)
# Gene Variation Type Significance SNP ID Assembly Location
1 ANK2 NM_001148.4(ANK2): c.4373A> G (p.Glu1458Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs72544141 GRCh37 Chromosome 4, 114269433: 114269433
2 ANK2 NM_001148.4(ANK2): c.4373A> G (p.Glu1458Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs72544141 GRCh38 Chromosome 4, 113348277: 113348277
3 ANK2 NM_001148.4(ANK2): c.11231C> A (p.Thr3744Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs121912705 GRCh37 Chromosome 4, 114288920: 114288920
4 ANK2 NM_001148.4(ANK2): c.11231C> A (p.Thr3744Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs121912705 GRCh38 Chromosome 4, 113367764: 113367764
5 ANK2 NM_001148.4(ANK2): c.11218C> A (p.Leu3740Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs35530544 GRCh37 Chromosome 4, 114288907: 114288907
6 ANK2 NM_001148.4(ANK2): c.11218C> A (p.Leu3740Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs35530544 GRCh38 Chromosome 4, 113367751: 113367751
7 ANK2 NM_001148.4(ANK2): c.11716C> T (p.Arg3906Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs121912706 GRCh37 Chromosome 4, 114294462: 114294462
8 ANK2 NM_001148.4(ANK2): c.11716C> T (p.Arg3906Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs121912706 GRCh38 Chromosome 4, 113373306: 113373306
9 ANK2 NM_001148.4(ANK2): c.11791G> A (p.Glu3931Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs45454496 GRCh37 Chromosome 4, 114294537: 114294537
10 ANK2 NM_001148.4(ANK2): c.11791G> A (p.Glu3931Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs45454496 GRCh38 Chromosome 4, 113373381: 113373381
11 ANK2 NM_001148.4(ANK2): c.7106T> C (p.Val2369Ala) single nucleotide variant Benign/Likely benign rs28377576 GRCh37 Chromosome 4, 114276880: 114276880
12 ANK2 NM_001148.4(ANK2): c.7106T> C (p.Val2369Ala) single nucleotide variant Benign/Likely benign rs28377576 GRCh38 Chromosome 4, 113355724: 113355724
13 ANK2 NM_001148.4(ANK2): c.2377-8C> T single nucleotide variant Benign/Likely benign rs139893914 GRCh37 Chromosome 4, 114214588: 114214588
14 ANK2 NM_001148.4(ANK2): c.2377-8C> T single nucleotide variant Benign/Likely benign rs139893914 GRCh38 Chromosome 4, 113293432: 113293432
15 ANK2 NM_001148.4(ANK2): c.10888+20C> T single nucleotide variant Benign rs35728190 GRCh37 Chromosome 4, 114284645: 114284645
16 ANK2 NM_001148.4(ANK2): c.10888+20C> T single nucleotide variant Benign rs35728190 GRCh38 Chromosome 4, 113363489: 113363489
17 ANK2 NM_001148.4(ANK2): c.11673T> C (p.His3891=) single nucleotide variant Benign/Likely benign rs2293324 GRCh37 Chromosome 4, 114294308: 114294308
18 ANK2 NM_001148.4(ANK2): c.11673T> C (p.His3891=) single nucleotide variant Benign/Likely benign rs2293324 GRCh38 Chromosome 4, 113373152: 113373152
19 ANK2 NM_001148.4(ANK2): c.*7C> T single nucleotide variant Benign/Likely benign rs35446871 GRCh37 Chromosome 4, 114302634: 114302634
20 ANK2 NM_001148.4(ANK2): c.*7C> T single nucleotide variant Benign/Likely benign rs35446871 GRCh38 Chromosome 4, 113381478: 113381478
21 ANK2 NM_001148.4(ANK2): c.6206G> A (p.Arg2069His) single nucleotide variant Likely benign rs149645600 GRCh37 Chromosome 4, 114275980: 114275980
22 ANK2 NM_001148.4(ANK2): c.6206G> A (p.Arg2069His) single nucleotide variant Likely benign rs149645600 GRCh38 Chromosome 4, 113354824: 113354824
23 ANK2 NM_001148.4(ANK2): c.7132G> A (p.Glu2378Lys) single nucleotide variant Benign/Likely benign rs141191319 GRCh37 Chromosome 4, 114276906: 114276906
24 ANK2 NM_001148.4(ANK2): c.7132G> A (p.Glu2378Lys) single nucleotide variant Benign/Likely benign rs141191319 GRCh38 Chromosome 4, 113355750: 113355750
25 ANK2 NM_001148.4(ANK2): c.1397C> T (p.Thr466Met) single nucleotide variant Uncertain significance rs786205722 GRCh38 Chromosome 4, 113264907: 113264907
26 ANK2 NM_001148.4(ANK2): c.1397C> T (p.Thr466Met) single nucleotide variant Uncertain significance rs786205722 GRCh37 Chromosome 4, 114186063: 114186063
27 ANK2 NM_001148.4(ANK2): c.2060A> G (p.Asn687Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs29372 GRCh38 Chromosome 4, 113282853: 113282853
28 ANK2 NM_001148.4(ANK2): c.2060A> G (p.Asn687Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs29372 GRCh37 Chromosome 4, 114204009: 114204009
29 ANK2 NM_001148.4(ANK2): c.4835C> T (p.Thr1612Ile) single nucleotide variant Uncertain significance rs765274871 GRCh37 Chromosome 4, 114274609: 114274609
30 ANK2 NM_001148.4(ANK2): c.4835C> T (p.Thr1612Ile) single nucleotide variant Uncertain significance rs765274871 GRCh38 Chromosome 4, 113353453: 113353453
31 ANK2 NM_001148.4(ANK2): c.9854T> C (p.Ile3285Thr) single nucleotide variant Benign/Likely benign rs36210417 GRCh37 Chromosome 4, 114279628: 114279628
32 ANK2 NM_001148.4(ANK2): c.9854T> C (p.Ile3285Thr) single nucleotide variant Benign/Likely benign rs36210417 GRCh38 Chromosome 4, 113358472: 113358472
33 ANK2 NM_001148.4(ANK2): c.11134G> A (p.Val3712Ile) single nucleotide variant Uncertain significance rs146476345 GRCh37 Chromosome 4, 114288823: 114288823
34 ANK2 NM_001148.4(ANK2): c.11134G> A (p.Val3712Ile) single nucleotide variant Uncertain significance rs146476345 GRCh38 Chromosome 4, 113367667: 113367667
35 ANK2 NM_001148.4(ANK2): c.4745G> A (p.Arg1582Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs138842207 GRCh37 Chromosome 4, 114274519: 114274519
36 ANK2 NM_001148.4(ANK2): c.4745G> A (p.Arg1582Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs138842207 GRCh38 Chromosome 4, 113353363: 113353363
37 ANK2 NM_001148.4(ANK2): c.6176C> T (p.Thr2059Met) single nucleotide variant Conflicting interpretations of pathogenicity rs200765866 GRCh37 Chromosome 4, 114275950: 114275950
38 ANK2 NM_001148.4(ANK2): c.6176C> T (p.Thr2059Met) single nucleotide variant Conflicting interpretations of pathogenicity rs200765866 GRCh38 Chromosome 4, 113354794: 113354794
39 ANK2 NM_001148.4(ANK2): c.8354C> T (p.Ser2785Leu) single nucleotide variant Benign/Likely benign rs145895389 GRCh38 Chromosome 4, 113356972: 113356972
40 ANK2 NM_001148.4(ANK2): c.8354C> T (p.Ser2785Leu) single nucleotide variant Benign/Likely benign rs145895389 GRCh37 Chromosome 4, 114278128: 114278128
41 ANK2 NM_001148.4(ANK2): c.9900C> A (p.Ser3300Arg) single nucleotide variant Benign/Likely benign rs34270799 GRCh38 Chromosome 4, 113358518: 113358518
42 ANK2 NM_001148.4(ANK2): c.9900C> A (p.Ser3300Arg) single nucleotide variant Benign/Likely benign rs34270799 GRCh37 Chromosome 4, 114279674: 114279674
43 ANK2 NM_001148.4(ANK2): c.10881T> G (p.His3627Gln) single nucleotide variant Uncertain significance rs148405740 GRCh38 Chromosome 4, 113363462: 113363462
44 ANK2 NM_001148.4(ANK2): c.10881T> G (p.His3627Gln) single nucleotide variant Uncertain significance rs148405740 GRCh37 Chromosome 4, 114284618: 114284618
45 ANK2 NM_001148.4(ANK2): c.9526G> T (p.Asp3176Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs138928206 GRCh37 Chromosome 4, 114279300: 114279300
46 ANK2 NM_001148.4(ANK2): c.9526G> T (p.Asp3176Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs138928206 GRCh38 Chromosome 4, 113358144: 113358144
47 ANK2 NM_001148.4(ANK2): c.1401A> G (p.Ala467=) single nucleotide variant Conflicting interpretations of pathogenicity rs142159132 GRCh37 Chromosome 4, 114186067: 114186067
48 ANK2 NM_001148.4(ANK2): c.1401A> G (p.Ala467=) single nucleotide variant Conflicting interpretations of pathogenicity rs142159132 GRCh38 Chromosome 4, 113264911: 113264911
49 ANK2 NM_001148.4(ANK2): c.2277+9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs141965666 GRCh37 Chromosome 4, 114209651: 114209651
50 ANK2 NM_001148.4(ANK2): c.2277+9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs141965666 GRCh38 Chromosome 4, 113288495: 113288495

Expression for Cardiac Arrhythmia, Ankyrin-B-Related

Search GEO for disease gene expression data for Cardiac Arrhythmia, Ankyrin-B-Related.

Pathways for Cardiac Arrhythmia, Ankyrin-B-Related

GO Terms for Cardiac Arrhythmia, Ankyrin-B-Related

Sources for Cardiac Arrhythmia, Ankyrin-B-Related

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63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
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75 UMLS via Orphanet
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