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 54 50 25 13 69
Long Qt Syndrome 4 54 50 24 71 29 69
Lqt4 50 24 71
Ankyrin-B Syndrome 50 25
Cardiac Arrhythmia, Ankyrin B-Related 29
Sick Sinus Syndrome with Bradycardia 71
Lqt 4 24

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see lqt1 )


HPO:

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


Classifications:



Summaries for Cardiac Arrhythmia, Ankyrin-B-Related

OMIM : 54
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, is also known as long qt syndrome 4, and has symptoms including atrial fibrillation, syncope and sudden cardiac death. 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 : 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.

Related Diseases for Cardiac Arrhythmia, Ankyrin-B-Related

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

Symptoms via clinical synopsis from OMIM:

54

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

Clinical features from OMIM:

600919

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

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

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:

id Genetic test Affiliating Genes
1 Cardiac Arrhythmia, Ankyrin B-Related 29
2 Long Qt Syndrome 4 29 24 ANK2

Anatomical Context for Cardiac Arrhythmia, Ankyrin-B-Related

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

39
Heart

Publications for Cardiac Arrhythmia, Ankyrin-B-Related

Variations for Cardiac Arrhythmia, Ankyrin-B-Related

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

71
id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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