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 53 49 24 13 69
Long Qt Syndrome 4 53 49 71 28 69
Ankyrin-B Syndrome 53 49 24
Lqt4 49 71
Cardiac Arrhythmia, Ankyrin B-Related 28
Sick Sinus Syndrome with Bradycardia 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see lqt1 )


HPO:

31
cardiac arrhythmia, ankyrin-b-related:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



Summaries for Cardiac Arrhythmia, Ankyrin-B-Related

OMIM : 53 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, sudden cardiac death and prolonged qt interval. An important gene associated with Cardiac Arrhythmia, Ankyrin-B-Related is ANK2 (Ankyrin 2). Affiliated tissues include heart.

UniProtKB/Swiss-Prot : 71 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.

Genetics Home Reference : 24 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.

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:

53
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:

31
# Description HPO Frequency HPO Source Accession
1 syncope 31 HP:0001279
2 sudden cardiac death 31 HP:0001645
3 prolonged qt interval 31 HP:0001657
4 atrial fibrillation 31 HP:0005110
5 sinus bradycardia 31 HP:0001688

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 28 ANK2
2 Long Qt Syndrome 4 28

Anatomical Context for Cardiac Arrhythmia, Ankyrin-B-Related

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

38
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: 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:

71
# 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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....