MCID: CRD054
MIFTS: 24

Cardiac Arrhythmia, Ankyrin-B-Related

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 57 53 25 13 73
Long Qt Syndrome 4 57 53 75 29 6 73
Cardiac Arrhythmia, Ankyrin B-Related 29 6 40
Ankyrin-B Syndrome 57 53 25
Lqt4 53 75
Sick Sinus Syndrome with Bradycardia 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see lqt1 )


HPO:

32
cardiac arrhythmia, ankyrin-b-related:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



Summaries for Cardiac Arrhythmia, Ankyrin-B-Related

OMIM : 57 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 heart disease and long qt syndrome, 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 syncope and sudden cardiac death

Genetics Home Reference : 25 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 : 75 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 heart disease 9.8
2 long qt syndrome 9.8

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

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
prolong qt interval on ekg
sinus bradycardia
sinus nude dysfunction
atrial fibrillation
syncope
more

Clinical features from OMIM:

600919

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

32
# Description HPO Frequency HPO Source Accession
1 syncope 32 HP:0001279
2 sudden cardiac death 32 HP:0001645
3 prolonged qt interval 32 HP:0001657
4 sinus bradycardia 32 HP:0001688
5 atrial fibrillation 32 HP:0005110

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 29 ANK2
2 Long Qt Syndrome 4 29

Anatomical Context for Cardiac Arrhythmia, Ankyrin-B-Related

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

41
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
CaMKII inhibition rescues proarrhythmic phenotypes in the model of human ankyrin-B syndrome. ( 23059182 )
2012
3
Ankyrin-B syndrome: enhanced cardiac function balanced by risk of cardiac death and premature senescence. ( 17940615 )
2007

Variations for Cardiac Arrhythmia, Ankyrin-B-Related

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

75
# Symbol AA change Variation ID SNP ID
1 ANK2 p.Glu1458Gly VAR_022934 rs72544141
2 ANK2 p.Leu3740Ile VAR_022935 rs35530544
3 ANK2 p.Thr3744Asn VAR_022936 rs121912705
4 ANK2 p.Arg3906Trp VAR_022937 rs121912706
5 ANK2 p.Glu3931Lys VAR_022938 rs45454496

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

6
(show all 46)
# Gene Variation Type Significance SNP ID Assembly Location
1 ANK2 NM_001148.4(ANK2): c.6206G> A (p.Arg2069His) single nucleotide variant Likely benign rs149645600 GRCh37 Chromosome 4, 114275980: 114275980
2 ANK2 NM_001148.4(ANK2): c.6206G> A (p.Arg2069His) single nucleotide variant Likely benign rs149645600 GRCh38 Chromosome 4, 113354824: 113354824
3 ANK2 NM_001148.4(ANK2): c.7132G> A (p.Glu2378Lys) single nucleotide variant Benign/Likely benign rs141191319 GRCh37 Chromosome 4, 114276906: 114276906
4 ANK2 NM_001148.4(ANK2): c.7132G> A (p.Glu2378Lys) single nucleotide variant Benign/Likely benign rs141191319 GRCh38 Chromosome 4, 113355750: 113355750
5 ANK2 NM_001148.4(ANK2): c.1397C> T (p.Thr466Met) single nucleotide variant Uncertain significance rs786205722 GRCh38 Chromosome 4, 113264907: 113264907
6 ANK2 NM_001148.4(ANK2): c.1397C> T (p.Thr466Met) single nucleotide variant Uncertain significance rs786205722 GRCh37 Chromosome 4, 114186063: 114186063
7 ANK2 NM_001148.4(ANK2): c.2060A> G (p.Asn687Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs29372 GRCh38 Chromosome 4, 113282853: 113282853
8 ANK2 NM_001148.4(ANK2): c.2060A> G (p.Asn687Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs29372 GRCh37 Chromosome 4, 114204009: 114204009
9 ANK2 NM_001148.4(ANK2): c.9854T> C (p.Ile3285Thr) single nucleotide variant Benign/Likely benign rs36210417 GRCh37 Chromosome 4, 114279628: 114279628
10 ANK2 NM_001148.4(ANK2): c.9854T> C (p.Ile3285Thr) single nucleotide variant Benign/Likely benign rs36210417 GRCh38 Chromosome 4, 113358472: 113358472
11 ANK2 NM_001148.4(ANK2): c.4745G> A (p.Arg1582Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs138842207 GRCh37 Chromosome 4, 114274519: 114274519
12 ANK2 NM_001148.4(ANK2): c.4745G> A (p.Arg1582Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs138842207 GRCh38 Chromosome 4, 113353363: 113353363
13 ANK2 NM_001148.4(ANK2): c.6176C> T (p.Thr2059Met) single nucleotide variant Conflicting interpretations of pathogenicity rs200765866 GRCh37 Chromosome 4, 114275950: 114275950
14 ANK2 NM_001148.4(ANK2): c.6176C> T (p.Thr2059Met) single nucleotide variant Conflicting interpretations of pathogenicity rs200765866 GRCh38 Chromosome 4, 113354794: 113354794
15 ANK2 NM_001148.4(ANK2): c.8354C> T (p.Ser2785Leu) single nucleotide variant Benign/Likely benign rs145895389 GRCh38 Chromosome 4, 113356972: 113356972
16 ANK2 NM_001148.4(ANK2): c.8354C> T (p.Ser2785Leu) single nucleotide variant Benign/Likely benign rs145895389 GRCh37 Chromosome 4, 114278128: 114278128
17 ANK2 NM_001148.4(ANK2): c.9900C> A (p.Ser3300Arg) single nucleotide variant Benign/Likely benign rs34270799 GRCh38 Chromosome 4, 113358518: 113358518
18 ANK2 NM_001148.4(ANK2): c.9900C> A (p.Ser3300Arg) single nucleotide variant Benign/Likely benign rs34270799 GRCh37 Chromosome 4, 114279674: 114279674
19 ANK2 NM_001148.4(ANK2): c.9526G> T (p.Asp3176Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs138928206 GRCh37 Chromosome 4, 114279300: 114279300
20 ANK2 NM_001148.4(ANK2): c.9526G> T (p.Asp3176Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs138928206 GRCh38 Chromosome 4, 113358144: 113358144
21 ANK2 NM_001127493.1(ANK2): c.4764delT (p.Gln1589Lysfs) deletion Uncertain significance rs878853166 GRCh37 Chromosome 4, 114288735: 114288735
22 ANK2 NM_001127493.1(ANK2): c.4764delT (p.Gln1589Lysfs) deletion Uncertain significance rs878853166 GRCh38 Chromosome 4, 113367579: 113367579
23 ANK2 NM_001148.4(ANK2): c.1401A> G (p.Ala467=) single nucleotide variant Conflicting interpretations of pathogenicity rs142159132 GRCh37 Chromosome 4, 114186067: 114186067
24 ANK2 NM_001148.4(ANK2): c.1401A> G (p.Ala467=) single nucleotide variant Conflicting interpretations of pathogenicity rs142159132 GRCh38 Chromosome 4, 113264911: 113264911
25 ANK2 NM_001148.4(ANK2): c.2277+9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs141965666 GRCh37 Chromosome 4, 114209651: 114209651
26 ANK2 NM_001148.4(ANK2): c.2277+9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs141965666 GRCh38 Chromosome 4, 113288495: 113288495
27 ANK2 NM_001148.4(ANK2): c.10371G> A (p.Thr3457=) single nucleotide variant Conflicting interpretations of pathogenicity rs142908806 GRCh37 Chromosome 4, 114280145: 114280145
28 ANK2 NM_001148.4(ANK2): c.10371G> A (p.Thr3457=) single nucleotide variant Conflicting interpretations of pathogenicity rs142908806 GRCh38 Chromosome 4, 113358989: 113358989
29 ANK2 NM_001148.4(ANK2): c.6398C> T (p.Ser2133Phe) single nucleotide variant Uncertain significance rs879253759 GRCh37 Chromosome 4, 114276172: 114276172
30 ANK2 NM_001148.4(ANK2): c.6398C> T (p.Ser2133Phe) single nucleotide variant Uncertain significance rs879253759 GRCh38 Chromosome 4, 113355016: 113355016
31 ANK2 NM_001148.4(ANK2): c.5469C> T (p.Pro1823=) single nucleotide variant Benign/Likely benign rs33966911 GRCh37 Chromosome 4, 114275243: 114275243
32 ANK2 NM_001148.4(ANK2): c.5469C> T (p.Pro1823=) single nucleotide variant Benign/Likely benign rs33966911 GRCh38 Chromosome 4, 113354087: 113354087
33 ANK2 NM_001148.4(ANK2): c.7110A> G (p.Gln2370=) single nucleotide variant Benign/Likely benign rs3733615 GRCh38 Chromosome 4, 113355728: 113355728
34 ANK2 NM_001148.4(ANK2): c.7110A> G (p.Gln2370=) single nucleotide variant Benign/Likely benign rs3733615 GRCh37 Chromosome 4, 114276884: 114276884
35 ANK2 NM_001148.4(ANK2): c.9648A> G (p.Glu3216=) single nucleotide variant Benign/Likely benign rs10013743 GRCh38 Chromosome 4, 113358266: 113358266
36 ANK2 NM_001148.4(ANK2): c.9648A> G (p.Glu3216=) single nucleotide variant Benign/Likely benign rs10013743 GRCh37 Chromosome 4, 114279422: 114279422
37 ANK2 NM_001148.4(ANK2): c.3379+12T> G single nucleotide variant Benign/Likely benign rs139528815 GRCh38 Chromosome 4, 113333220: 113333220
38 ANK2 NM_001148.4(ANK2): c.3379+12T> G single nucleotide variant Benign/Likely benign rs139528815 GRCh37 Chromosome 4, 114254376: 114254376
39 ANK2 NM_001148.4(ANK2): c.2278-11G> A single nucleotide variant Benign/Likely benign rs146312675 GRCh38 Chromosome 4, 113292405: 113292405
40 ANK2 NM_001148.4(ANK2): c.2278-11G> A single nucleotide variant Benign/Likely benign rs146312675 GRCh37 Chromosome 4, 114213561: 114213561
41 ANK2 NM_001148.4(ANK2): c.1673T> C (p.Leu558Ser) single nucleotide variant Uncertain significance rs139199018 GRCh37 Chromosome 4, 114195795: 114195795
42 ANK2 NM_001148.4(ANK2): c.1673T> C (p.Leu558Ser) single nucleotide variant Uncertain significance rs139199018 GRCh38 Chromosome 4, 113274639: 113274639
43 ANK2 NM_001148.5(ANK2): c.4502C> T (p.Pro1501Leu) single nucleotide variant Uncertain significance rs201071074 GRCh38 Chromosome 4, 113353120: 113353120
44 ANK2 NM_001148.5(ANK2): c.4502C> T (p.Pro1501Leu) single nucleotide variant Uncertain significance rs201071074 GRCh37 Chromosome 4, 114274276: 114274276
45 ANK2 NM_001148.5(ANK2): c.2178+18C> T single nucleotide variant Benign rs45447896 GRCh37 Chromosome 4, 114208877: 114208877
46 ANK2 NM_001148.5(ANK2): c.2178+18C> T single nucleotide variant Benign rs45447896 GRCh38 Chromosome 4, 113287721: 113287721

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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