MCID: ATR038
MIFTS: 17

Atrial Fibrillation, Familial, 3

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Atrial Fibrillation, Familial, 3

MalaCards integrated aliases for Atrial Fibrillation, Familial, 3:

Name: Atrial Fibrillation, Familial, 3 57 75 29 13 6 73
Atfb3 57 75
Fibrillation, Atrial, Familial, Type 3 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see, e.g., atfb1, )
allelic disorder to long qt syndrome-1 (lqt1, )


HPO:

32
atrial fibrillation, familial, 3:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

OMIM 57 607554
MedGen 42 C1837014
MeSH 44 D001281
UMLS 73 C1837014

Summaries for Atrial Fibrillation, Familial, 3

OMIM : 57 Atrial fibrillation (AF) 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. (607554)

MalaCards based summary : Atrial Fibrillation, Familial, 3, is also known as atfb3. An important gene associated with Atrial Fibrillation, Familial, 3 is KCNQ1 (Potassium Voltage-Gated Channel Subfamily Q Member 1). Affiliated tissues include heart, and related phenotypes are tachycardia and thromboembolic stroke

UniProtKB/Swiss-Prot : 75 Atrial fibrillation, familial, 3: An autosomal dominant 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.

Symptoms & Phenotypes for Atrial Fibrillation, Familial, 3

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
atrial fibrillation, isolated
rapid heart beat
irregular heart beat
thromboembolic stroke may occur


Clinical features from OMIM:

607554

Human phenotypes related to Atrial Fibrillation, Familial, 3:

32
# Description HPO Frequency HPO Source Accession
1 tachycardia 32 HP:0001649
2 thromboembolic stroke 32 frequent (33%) HP:0001727
3 atrial fibrillation 32 HP:0005110

Drugs & Therapeutics for Atrial Fibrillation, Familial, 3

Search Clinical Trials , NIH Clinical Center for Atrial Fibrillation, Familial, 3

Genetic Tests for Atrial Fibrillation, Familial, 3

Genetic tests related to Atrial Fibrillation, Familial, 3:

# Genetic test Affiliating Genes
1 Atrial Fibrillation, Familial, 3 29 KCNQ1

Anatomical Context for Atrial Fibrillation, Familial, 3

MalaCards organs/tissues related to Atrial Fibrillation, Familial, 3:

41
Heart

Publications for Atrial Fibrillation, Familial, 3

Variations for Atrial Fibrillation, Familial, 3

UniProtKB/Swiss-Prot genetic disease variations for Atrial Fibrillation, Familial, 3:

75
# Symbol AA change Variation ID SNP ID
1 KCNQ1 p.Ser140Gly VAR_015742 rs120074192

ClinVar genetic disease variations for Atrial Fibrillation, Familial, 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNQ1 NM_000218.2(KCNQ1): c.418A> G (p.Ser140Gly) single nucleotide variant Pathogenic rs120074192 GRCh37 Chromosome 11, 2549189: 2549189
2 KCNQ1 NM_000218.2(KCNQ1): c.418A> G (p.Ser140Gly) single nucleotide variant Pathogenic rs120074192 GRCh38 Chromosome 11, 2527959: 2527959
3 KCNQ1 NM_000218.2(KCNQ1): c.1588C> T (p.Gln530Ter) single nucleotide variant Pathogenic rs397508097 GRCh37 Chromosome 11, 2790147: 2790147
4 KCNQ1 NM_000218.2(KCNQ1): c.1588C> T (p.Gln530Ter) single nucleotide variant Pathogenic rs397508097 GRCh38 Chromosome 11, 2768917: 2768917
5 KCNQ1 NM_000218.2(KCNQ1): c.686G> A (p.Gly229Asp) single nucleotide variant Pathogenic rs199472708 GRCh37 Chromosome 11, 2593245: 2593245
6 KCNQ1 NM_000218.2(KCNQ1): c.686G> A (p.Gly229Asp) single nucleotide variant Pathogenic rs199472708 GRCh38 Chromosome 11, 2572015: 2572015
7 KCNQ1 NM_000218.2(KCNQ1): c.692G> A (p.Arg231His) single nucleotide variant Pathogenic rs199472709 GRCh37 Chromosome 11, 2593251: 2593251
8 KCNQ1 NM_000218.2(KCNQ1): c.692G> A (p.Arg231His) single nucleotide variant Pathogenic rs199472709 GRCh38 Chromosome 11, 2572021: 2572021
9 KCNQ1 NM_000218.2(KCNQ1): c.625T> C (p.Ser209Pro) single nucleotide variant Pathogenic rs199472705 GRCh37 Chromosome 11, 2592575: 2592575
10 KCNQ1 NM_000218.2(KCNQ1): c.625T> C (p.Ser209Pro) single nucleotide variant Pathogenic rs199472705 GRCh38 Chromosome 11, 2571345: 2571345

Expression for Atrial Fibrillation, Familial, 3

Search GEO for disease gene expression data for Atrial Fibrillation, Familial, 3.

Pathways for Atrial Fibrillation, Familial, 3

GO Terms for Atrial Fibrillation, Familial, 3

Sources for Atrial Fibrillation, Familial, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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