Cardiac Arrhythmia, Ankyrin-B-Related disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: CRD054 MIFTS: 24	Cardiac Arrhythmia, Ankyrin-B-Related Categories: Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Download Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 600919

MedGen ⁴² C1970119 C1833154

MeSH ⁴⁴ D008133

SNOMED-CT via HPO ⁶⁹ 263681008 271594007 272030005 more

UMLS ⁷³ C1970119 C1833154

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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.

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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

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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 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

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

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

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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

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Anatomical Context for Cardiac Arrhythmia, Ankyrin-B-Related

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

⁴¹

Heart

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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 )	Swayne L.A....Arbour L.T.	2017
2	CaMKII inhibition rescues proarrhythmic phenotypes in the model of human ankyrin-B syndrome. ( 23059182 )	DeGrande S....Mohler P.J.	2012
3	Ankyrin-B syndrome: enhanced cardiac function balanced by risk of cardiac death and premature senescence. ( 17940615 )	Mohler P.J....Bennett V.	2007

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Genes for Cardiac Arrhythmia, Ankyrin-B-Related

Genes related to Cardiac Arrhythmia, Ankyrin-B-Related (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ANK2	Ankyrin 2	Protein Coding	919.37	Molecular basis known ⁵⁷ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Variants (show sections)

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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

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Expression for Cardiac Arrhythmia, Ankyrin-B-Related

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

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Pathways for Cardiac Arrhythmia, Ankyrin-B-Related

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GO Terms for Cardiac Arrhythmia, Ankyrin-B-Related

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Sources for Cardiac Arrhythmia, Ankyrin-B-Related

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