ATFB11
MCID: ATR059
MIFTS: 19

Atrial Fibrillation, Familial, 11 (ATFB11)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Atrial Fibrillation, Familial, 11

MalaCards integrated aliases for Atrial Fibrillation, Familial, 11:

Name: Atrial Fibrillation, Familial, 11 58 76 30 13 6 74
Atfb11 58 76
Fibrillation, Atrial, Familial, Type 11 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
atrial fibrillation, familial, 11:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 614049
MeSH 45 D001281
MedGen 43 C3279693
SNOMED-CT via HPO 70 263681008 49436004
UMLS 74 C3279693

Summaries for Atrial Fibrillation, Familial, 11

OMIM : 58 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 familial atrial fibrillation, see ATFB1 (608583). (614049)

MalaCards based summary : Atrial Fibrillation, Familial, 11, also known as atfb11, is related to atrial standstill and atrial standstill 1. An important gene associated with Atrial Fibrillation, Familial, 11 is GJA5 (Gap Junction Protein Alpha 5). Affiliated tissues include heart, and related phenotype is atrial fibrillation.

UniProtKB/Swiss-Prot : 76 Atrial fibrillation, familial, 11: 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.

Related Diseases for Atrial Fibrillation, Familial, 11

Symptoms & Phenotypes for Atrial Fibrillation, Familial, 11

Human phenotypes related to Atrial Fibrillation, Familial, 11:

33
# Description HPO Frequency HPO Source Accession
1 atrial fibrillation 33 HP:0005110

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
atrial fibrillation

Clinical features from OMIM:

614049

Drugs & Therapeutics for Atrial Fibrillation, Familial, 11

Search Clinical Trials , NIH Clinical Center for Atrial Fibrillation, Familial, 11

Genetic Tests for Atrial Fibrillation, Familial, 11

Genetic tests related to Atrial Fibrillation, Familial, 11:

# Genetic test Affiliating Genes
1 Atrial Fibrillation, Familial, 11 30 GJA5

Anatomical Context for Atrial Fibrillation, Familial, 11

MalaCards organs/tissues related to Atrial Fibrillation, Familial, 11:

42
Heart

Publications for Atrial Fibrillation, Familial, 11

Variations for Atrial Fibrillation, Familial, 11

UniProtKB/Swiss-Prot genetic disease variations for Atrial Fibrillation, Familial, 11:

76
# Symbol AA change Variation ID SNP ID
1 GJA5 p.Val85Ile VAR_066249 rs387906613
2 GJA5 p.Leu221Ile VAR_066250 rs387906614
3 GJA5 p.Leu229Met VAR_066251 rs387906615

ClinVar genetic disease variations for Atrial Fibrillation, Familial, 11:

6 (show all 33)
# Gene Variation Type Significance SNP ID Assembly Location
1 GJA5 NM_005266.6(GJA5): c.286G> T (p.Ala96Ser) single nucleotide variant Likely pathogenic rs121434557 GRCh37 Chromosome 1, 147231061: 147231061
2 GJA5 NM_005266.6(GJA5): c.286G> T (p.Ala96Ser) single nucleotide variant Likely pathogenic rs121434557 GRCh38 Chromosome 1, 147758953: 147758953
3 GJA5 NM_005266.6(GJA5): c.145C> T (p.Gln49Ter) single nucleotide variant Pathogenic rs387906612 GRCh37 Chromosome 1, 147231202: 147231202
4 GJA5 NM_005266.6(GJA5): c.145C> T (p.Gln49Ter) single nucleotide variant Pathogenic rs387906612 GRCh38 Chromosome 1, 147759094: 147759094
5 GJA5 NM_005266.6(GJA5): c.253G> A (p.Val85Ile) single nucleotide variant Pathogenic rs387906613 GRCh37 Chromosome 1, 147231094: 147231094
6 GJA5 NM_005266.6(GJA5): c.253G> A (p.Val85Ile) single nucleotide variant Pathogenic rs387906613 GRCh38 Chromosome 1, 147758986: 147758986
7 GJA5 NM_005266.6(GJA5): c.661C> A (p.Leu221Ile) single nucleotide variant Pathogenic rs387906614 GRCh37 Chromosome 1, 147230686: 147230686
8 GJA5 NM_005266.6(GJA5): c.661C> A (p.Leu221Ile) single nucleotide variant Pathogenic rs387906614 GRCh38 Chromosome 1, 147758578: 147758578
9 GJA5 NM_005266.6(GJA5): c.685C> A (p.Leu229Met) single nucleotide variant Pathogenic rs387906615 GRCh37 Chromosome 1, 147230662: 147230662
10 GJA5 NM_005266.6(GJA5): c.685C> A (p.Leu229Met) single nucleotide variant Pathogenic rs387906615 GRCh38 Chromosome 1, 147758554: 147758554
11 GJA5 NM_005266.6(GJA5): c.223A> T (p.Ile75Phe) single nucleotide variant Pathogenic rs587777304 GRCh37 Chromosome 1, 147231124: 147231124
12 GJA5 NM_005266.6(GJA5): c.223A> T (p.Ile75Phe) single nucleotide variant Pathogenic rs587777304 GRCh38 Chromosome 1, 147759016: 147759016
13 GJA5 NM_005266.6(GJA5): c.995G> A (p.Arg332His) single nucleotide variant Uncertain significance rs116551187 GRCh38 Chromosome 1, 147758244: 147758244
14 GJA5 NM_005266.6(GJA5): c.995G> A (p.Arg332His) single nucleotide variant Uncertain significance rs116551187 GRCh37 Chromosome 1, 147230352: 147230352
15 GJA5 NM_005266.6(GJA5): c.369C> T (p.Tyr123=) single nucleotide variant Benign/Likely benign rs2232191 GRCh38 Chromosome 1, 147758870: 147758870
16 GJA5 NM_005266.6(GJA5): c.369C> T (p.Tyr123=) single nucleotide variant Benign/Likely benign rs2232191 GRCh37 Chromosome 1, 147230978: 147230978
17 GJA5 NC_000001.10: g.(?_147230250)_(147231366_?)dup duplication Uncertain significance GRCh37 Chromosome 1, 147230250: 147231366
18 GJA5 NM_005266.6(GJA5): c.365C> T (p.Ser122Phe) single nucleotide variant Uncertain significance rs781831348 GRCh37 Chromosome 1, 147230982: 147230982
19 GJA5 NM_005266.6(GJA5): c.365C> T (p.Ser122Phe) single nucleotide variant Uncertain significance rs781831348 GRCh38 Chromosome 1, 147758874: 147758874
20 GJA5 NM_005266.6(GJA5): c.433delC (p.Leu145Serfs) deletion Uncertain significance GRCh38 Chromosome 1, 147758806: 147758806
21 GJA5 NM_005266.6(GJA5): c.433delC (p.Leu145Serfs) deletion Uncertain significance GRCh37 Chromosome 1, 147230914: 147230914
22 GJA5 NM_005266.6(GJA5): c.973A> C (p.Asn325His) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 147758266: 147758266
23 GJA5 NM_005266.6(GJA5): c.973A> C (p.Asn325His) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 147230374: 147230374
24 GJA5 NM_005266.6(GJA5): c.977G> A (p.Gly326Glu) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 147230370: 147230370
25 GJA5 NM_005266.6(GJA5): c.977G> A (p.Gly326Glu) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 147758262: 147758262
26 GJA5 NM_005266.6(GJA5): c.430G> A (p.Ala144Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 147230917: 147230917
27 GJA5 NM_005266.6(GJA5): c.430G> A (p.Ala144Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 147758809: 147758809
28 GJA5 NM_005266.6(GJA5): c.259A> T (p.Thr87Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 147231088: 147231088
29 GJA5 NM_005266.6(GJA5): c.259A> T (p.Thr87Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 147758980: 147758980
30 GJA5 NM_005266.6(GJA5): c.496G> A (p.Gly166Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 147758743: 147758743
31 GJA5 NM_005266.6(GJA5): c.496G> A (p.Gly166Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 147230851: 147230851
32 GJA5 NM_005266.6(GJA5): c.325C> T (p.Arg109Trp) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 147758914: 147758914
33 GJA5 NM_005266.6(GJA5): c.325C> T (p.Arg109Trp) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 147231022: 147231022

Expression for Atrial Fibrillation, Familial, 11

Search GEO for disease gene expression data for Atrial Fibrillation, Familial, 11.

Pathways for Atrial Fibrillation, Familial, 11

GO Terms for Atrial Fibrillation, Familial, 11

Sources for Atrial Fibrillation, Familial, 11

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