Atrial Fibrillation, Familial, 4 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Atrial Fibrillation, Familial, 4

MalaCards integrated aliases for Atrial Fibrillation, Familial, 4:

Name: Atrial Fibrillation, Familial, 4 ⁵⁷ ⁷² ²⁹ ¹³ ⁶ ⁷⁰

Atfb4 ⁵⁷ ⁷²

Fibrillation, Atrial, Familial, Type 4 ³⁹

Characteristics:

HPO:

³¹

atrial fibrillation, familial, 4:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Cardiovascular diseases Blood diseases Respiratory diseases Mental diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 611493

OMIM Phenotypic Series ⁵⁷ PS608583

MeSH ⁴⁴ D001281

MedGen ⁴¹ C1862394

SNOMED-CT via HPO ⁶⁸ 263681008 282825002 284470004 more

UMLS ⁷⁰ C1862394

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Summaries for Atrial Fibrillation, Familial, 4

OMIM® : ⁵⁷ Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997). For a discussion of genetic heterogeneity of atrial fibrillation, see 608583. (611493) (Updated 20-May-2021)

MalaCards based summary : Atrial Fibrillation, Familial, 4, is also known as atfb4. An important gene associated with Atrial Fibrillation, Familial, 4 is KCNE2 (Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 2). Related phenotypes are paroxysmal atrial fibrillation and palpitations

UniProtKB/Swiss-Prot : ⁷² Atrial fibrillation, familial, 4: A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure.

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Related Diseases for Atrial Fibrillation, Familial, 4

Diseases in the Atrial Fibrillation family:

Atrial Fibrillation, Familial, 3	Atrial Fibrillation, Familial, 1
Atrial Fibrillation, Familial, 2	Atrial Fibrillation, Familial, 4
Atrial Fibrillation, Familial, 5	Atrial Fibrillation, Familial, 6
Atrial Fibrillation, Familial, 7	Atrial Fibrillation, Familial, 8
Atrial Fibrillation, Familial, 9	Atrial Fibrillation, Familial, 10
Atrial Fibrillation, Familial, 11	Atrial Fibrillation, Familial, 12
Atrial Fibrillation, Familial, 13	Atrial Fibrillation, Familial, 14
Atrial Fibrillation, Familial, 15	Atrial Fibrillation, Familial, 18
Familial Atrial Fibrillation

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Symptoms & Phenotypes for Atrial Fibrillation, Familial, 4

Human phenotypes related to Atrial Fibrillation, Familial, 4:

³¹

#	Description	HPO Frequency	HPO Source Accession
1	paroxysmal atrial fibrillation ³¹	very rare (1%)	HP:0004757
2	palpitations ³¹	very rare (1%)	HP:0001962
3	premature atrial contractions ³¹	very rare (1%)	HP:0006699
4	permanent atrial fibrillation ³¹	very rare (1%)	HP:0004754

Clinical features from OMIM®:

611493 (Updated 20-May-2021)

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Drugs & Therapeutics for Atrial Fibrillation, Familial, 4

Search Clinical Trials , NIH Clinical Center for Atrial Fibrillation, Familial, 4

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Genetic Tests for Atrial Fibrillation, Familial, 4

Genetic tests related to Atrial Fibrillation, Familial, 4:

#	Genetic test	Affiliating Genes
1	Atrial Fibrillation, Familial, 4 ²⁹	KCNE2

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Anatomical Context for Atrial Fibrillation, Familial, 4

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Publications for Atrial Fibrillation, Familial, 4

Articles related to Atrial Fibrillation, Familial, 4:

#	Title	Authors	PMID	Year
1	Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation. ⁶ ⁵⁷	Yang Y...Chen Y	15368194	2004
2	KCNE2 modulates cardiac L-type Ca(2+) channel. ⁶	Liu W...Liu J	24681347	2014
3	Identification of a genetic locus for familial atrial fibrillation. ⁵⁷	Brugada R...Roberts R	9070470	1997

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Genes for Atrial Fibrillation, Familial, 4

Genes related to Atrial Fibrillation, Familial, 4 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	KCNE2	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 2	Protein Coding	943.16	Molecular basis known ⁵⁷ Causative variation ⁷² Genetic Tests ²⁹ Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	15368194

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Variations for Atrial Fibrillation, Familial, 4

ClinVar genetic disease variations for Atrial Fibrillation, Familial, 4:

⁶ (show all 18)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	KCNE2	NM_172201.1(KCNE2):c.79C>T (p.Arg27Cys)	SNV	Likely pathogenic	6055	rs74315449	GRCh37: 21:35742856-35742856 GRCh38: 21:34370557-34370557
2	KCNE2	NM_172201.2(KCNE2):c.17A>G (p.Asn6Ser)	SNV	Uncertain significance	895204		GRCh37: 21:35742794-35742794 GRCh38: 21:34370495-34370495
3	KCNE2	NM_172201.2(KCNE2):c.178T>A (p.Phe60Ile)	SNV	Uncertain significance	898248		GRCh37: 21:35742955-35742955 GRCh38: 21:34370656-34370656
4	KCNE2	NM_172201.1(KCNE2):c.354G>A (p.Gly118=)	SNV	Uncertain significance	190792	rs187917779	GRCh37: 21:35743131-35743131 GRCh38: 21:34370832-34370832
5	KCNE2	NM_172201.2(KCNE2):c.*11A>C	SNV	Uncertain significance	898249		GRCh37: 21:35743160-35743160 GRCh38: 21:34370861-34370861
6	KCNE2	NM_172201.2(KCNE2):c.*61C>T	SNV	Uncertain significance	898250		GRCh37: 21:35743210-35743210 GRCh38: 21:34370911-34370911
7	KCNE2	NM_172201.2(KCNE2):c.*234G>A	SNV	Uncertain significance	899357		GRCh37: 21:35743383-35743383 GRCh38: 21:34371084-34371084
8	KCNE2	NM_172201.1(KCNE2):c.79C>T (p.Arg27Cys)	SNV	Uncertain significance	6055	rs74315449	GRCh37: 21:35742856-35742856 GRCh38: 21:34370557-34370557
9	KCNE2	NM_172201.1(KCNE2):c.-80C>T	SNV	Uncertain significance	339715	rs566735365	GRCh37: 21:35736383-35736383 GRCh38: 21:34364084-34364084
10	KCNE2	NM_172201.1(KCNE2):c.-13+5G>A	SNV	Uncertain significance	190793	rs786205806	GRCh37: 21:35736455-35736455 GRCh38: 21:34364156-34364156
11	KCNE2	NM_172201.1(KCNE2):c.-85G>A	SNV	Uncertain significance	339714	rs41315511	GRCh37: 21:35736378-35736378 GRCh38: 21:34364079-34364079
12	KCNE2	NM_172201.1(KCNE2):c.*62G>A	SNV	Uncertain significance	339719	rs72550218	GRCh37: 21:35743211-35743211 GRCh38: 21:34370912-34370912
13	KCNE2	NM_172201.1(KCNE2):c.*240G>C	SNV	Uncertain significance	339720	rs773295544	GRCh37: 21:35743389-35743389 GRCh38: 21:34371090-34371090
14	KCNE2	NM_172201.1(KCNE2):c.153G>T (p.Leu51=)	SNV	Uncertain significance	339718	rs143767851	GRCh37: 21:35742930-35742930 GRCh38: 21:34370631-34370631
15	KCNE2	NM_172201.1(KCNE2):c.-52G>A	SNV	Likely benign	339717	rs41314699	GRCh37: 21:35736411-35736411 GRCh38: 21:34364112-34364112
16	KCNE2	NM_172201.1(KCNE2):c.170T>C (p.Ile57Thr)	SNV	Likely benign	6054	rs74315448	GRCh37: 21:35742947-35742947 GRCh38: 21:34370648-34370648
17	KCNE2	NM_172201.1(KCNE2):c.25C>G (p.Gln9Glu)	SNV	Benign	6052	rs16991652	GRCh37: 21:35742802-35742802 GRCh38: 21:34370503-34370503
18	KCNE2	NM_172201.1(KCNE2):c.-79G>A	SNV	Benign	339716	rs41260744	GRCh37: 21:35736384-35736384 GRCh38: 21:34364085-34364085

UniProtKB/Swiss-Prot genetic disease variations for Atrial Fibrillation, Familial, 4:

⁷²

#	Symbol	AA change	Variation ID	SNP ID
1	KCNE2	p.Arg27Cys	VAR_037795	rs74315449

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Expression for Atrial Fibrillation, Familial, 4

Search GEO for disease gene expression data for Atrial Fibrillation, Familial, 4.

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Pathways for Atrial Fibrillation, Familial, 4

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GO Terms for Atrial Fibrillation, Familial, 4

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Atrial Fibrillation, Familial, 4 (ATFB4)

Aliases & Classifications for Atrial Fibrillation, Familial, 4

MalaCards integrated aliases for Atrial Fibrillation, Familial, 4:

Characteristics:

HPO:

Classifications:

External Ids:

Summaries for Atrial Fibrillation, Familial, 4

Related Diseases for Atrial Fibrillation, Familial, 4

Diseases in the Atrial Fibrillation family:

Symptoms & Phenotypes for Atrial Fibrillation, Familial, 4

Human phenotypes related to Atrial Fibrillation, Familial, 4:

Clinical features from OMIM®:

Drugs & Therapeutics for Atrial Fibrillation, Familial, 4

Genetic Tests for Atrial Fibrillation, Familial, 4

Genetic tests related to Atrial Fibrillation, Familial, 4:

Anatomical Context for Atrial Fibrillation, Familial, 4

Publications for Atrial Fibrillation, Familial, 4

Articles related to Atrial Fibrillation, Familial, 4:

Genes for Atrial Fibrillation, Familial, 4

Genes related to Atrial Fibrillation, Familial, 4 (1 elite genes):

Variations for Atrial Fibrillation, Familial, 4

ClinVar genetic disease variations for Atrial Fibrillation, Familial, 4:

UniProtKB/Swiss-Prot genetic disease variations for Atrial Fibrillation, Familial, 4:

Expression for Atrial Fibrillation, Familial, 4

Pathways for Atrial Fibrillation, Familial, 4

GO Terms for Atrial Fibrillation, Familial, 4

Sources for Atrial Fibrillation, Familial, 4