ATFB11
MCID: ATR059
MIFTS: 22

Atrial Fibrillation, Familial, 11 (ATFB11)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Mental 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 57 72 29 13 6 70
Atfb11 57 72
Fibrillation, Atrial, Familial, Type 11 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
atrial fibrillation, familial, 11:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 614049
OMIM Phenotypic Series 57 PS608583
MeSH 44 D001281
MedGen 41 C3279693
SNOMED-CT via HPO 68 263681008 49436004
UMLS 70 C3279693

Summaries for Atrial Fibrillation, Familial, 11

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 familial atrial fibrillation, see ATFB1 (608583). (614049) (Updated 05-Apr-2021)

MalaCards based summary : Atrial Fibrillation, Familial, 11, is also known as atfb11. An important gene associated with Atrial Fibrillation, Familial, 11 is GJA5 (Gap Junction Protein Alpha 5). Related phenotype is atrial fibrillation.

UniProtKB/Swiss-Prot : 72 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.

Symptoms & Phenotypes for Atrial Fibrillation, Familial, 11

Human phenotypes related to Atrial Fibrillation, Familial, 11:

31
# Description HPO Frequency HPO Source Accession
1 atrial fibrillation 31 HP:0005110

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Cardiovascular Heart:
atrial fibrillation

Clinical features from OMIM®:

614049 (Updated 05-Apr-2021)

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 29 GJA5

Anatomical Context for Atrial Fibrillation, Familial, 11

Publications for Atrial Fibrillation, Familial, 11

Articles related to Atrial Fibrillation, Familial, 11:

# Title Authors PMID Year
1
Novel germline GJA5/connexin40 mutations associated with lone atrial fibrillation impair gap junctional intercellular communication. 6 57
23348765 2013
2
Connexin40 nonsense mutation in familial atrial fibrillation. 57 6
20818502 2010
3
Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation. 57 6
16790700 2006
4
A common connexin-40 gene promoter variant affects connexin-40 expression in human atria and is associated with atrial fibrillation. 57
21076161 2011
5
Novel connexin40 missense mutations in patients with familial atrial fibrillation. 57
20650941 2010
6
The role of connexin40 in atrial fibrillation. 57
19535379 2009
7
Simple electrocardiographic markers for the prediction of paroxysmal idiopathic atrial fibrillation. 6
9588401 1998
8
Identification of a genetic locus for familial atrial fibrillation. 57
9070470 1997

Variations for Atrial Fibrillation, Familial, 11

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

6 (show top 50) (show all 70)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GJA5 NM_181703.4(GJA5):c.145C>T (p.Gln49Ter) SNV Pathogenic 29663 rs387906612 GRCh37: 1:147231202-147231202
GRCh38: 1:147759094-147759094
2 GJA5 NM_181703.4(GJA5):c.253G>A (p.Val85Ile) SNV Pathogenic 29664 rs387906613 GRCh37: 1:147231094-147231094
GRCh38: 1:147758986-147758986
3 GJA5 NM_181703.4(GJA5):c.661C>A (p.Leu221Ile) SNV Pathogenic 29665 rs387906614 GRCh37: 1:147230686-147230686
GRCh38: 1:147758578-147758578
4 GJA5 NM_181703.4(GJA5):c.685C>A (p.Leu229Met) SNV Pathogenic 29666 rs387906615 GRCh37: 1:147230662-147230662
GRCh38: 1:147758554-147758554
5 GJA5 NM_181703.4(GJA5):c.223A>T (p.Ile75Phe) SNV Pathogenic 126903 rs587777304 GRCh37: 1:147231124-147231124
GRCh38: 1:147759016-147759016
6 GJA5 GRCh37/hg19 1q21.2(chr1:147245049-147246661) copy number loss Pathogenic 625769 GRCh37: 1:147245049-147246661
GRCh38:
7 GJA5 NM_181703.4(GJA5):c.286G>T (p.Ala96Ser) SNV Pathogenic 16998 rs121434557 GRCh37: 1:147231061-147231061
GRCh38: 1:147758953-147758953
8 GJA5 NM_181703.4(GJA5):c.1006G>A (p.Gly336Ser) SNV Uncertain significance 838990 GRCh37: 1:147230341-147230341
GRCh38: 1:147758233-147758233
9 GJA5 NM_181703.4(GJA5):c.286G>T (p.Ala96Ser) SNV Uncertain significance 16998 rs121434557 GRCh37: 1:147231061-147231061
GRCh38: 1:147758953-147758953
10 GJA5 NM_181703.4(GJA5):c.592G>A (p.Val198Ile) SNV Uncertain significance 859880 GRCh37: 1:147230755-147230755
GRCh38: 1:147758647-147758647
11 GJA5 NM_181703.4(GJA5):c.790C>A (p.Pro264Thr) SNV Uncertain significance 971270 GRCh37: 1:147230557-147230557
GRCh38: 1:147758449-147758449
12 GJA5 NM_181703.4(GJA5):c.525C>G (p.Tyr175Ter) SNV Uncertain significance 1034934 GRCh37: 1:147230822-147230822
GRCh38: 1:147758714-147758714
13 GJA5 NM_181703.4(GJA5):c.278T>C (p.Met93Thr) SNV Uncertain significance 1038988 GRCh37: 1:147231069-147231069
GRCh38: 1:147758961-147758961
14 GJA5 NM_181703.4(GJA5):c.*616T>C SNV Uncertain significance 292440 rs202133825 GRCh37: 1:147229654-147229654
GRCh38: 1:147757546-147757546
15 GJA5 NM_181703.4(GJA5):c.*508G>A SNV Uncertain significance 292443 rs587741640 GRCh37: 1:147229762-147229762
GRCh38: 1:147757654-147757654
16 GJA5 NM_181703.4(GJA5):c.*46T>C SNV Uncertain significance 292446 rs886045249 GRCh37: 1:147230224-147230224
GRCh38: 1:147758116-147758116
17 GJA5 NC_000001.10:g.(?_147230260)_(147245383_?)dup Duplication Uncertain significance 831772 GRCh37: 1:147230260-147245383
GRCh38:
18 GJA5 NM_181703.4(GJA5):c.1035_1038del (p.Ser345fs) Deletion Uncertain significance 836933 GRCh37: 1:147230309-147230312
GRCh38: 1:147758201-147758204
19 GJA5 NM_181703.4(GJA5):c.*498A>T SNV Uncertain significance 875073 GRCh37: 1:147229772-147229772
GRCh38: 1:147757664-147757664
20 GJA5 NM_181703.4(GJA5):c.*333C>G SNV Uncertain significance 875074 GRCh37: 1:147229937-147229937
GRCh38: 1:147757829-147757829
21 GJA5 NM_005266.6(GJA5):c.-125C>T SNV Uncertain significance 875121 GRCh37: 1:147245447-147245447
GRCh38: 1:147773343-147773343
22 GJA5 NM_181703.4(GJA5):c.*22G>A SNV Uncertain significance 876005 GRCh37: 1:147230248-147230248
GRCh38: 1:147758140-147758140
23 GJA5 NM_181703.4(GJA5):c.1057T>G (p.Ser353Ala) SNV Uncertain significance 876006 GRCh37: 1:147230290-147230290
GRCh38: 1:147758182-147758182
24 GJA5 NM_181703.4(GJA5):c.956A>T (p.Gln319Leu) SNV Uncertain significance 876987 GRCh37: 1:147230391-147230391
GRCh38: 1:147758283-147758283
25 GJA5 NM_181703.4(GJA5):c.938T>C (p.Ile313Thr) SNV Uncertain significance 876988 GRCh37: 1:147230409-147230409
GRCh38: 1:147758301-147758301
26 GJA5 NM_181703.4(GJA5):c.377C>T (p.Pro126Leu) SNV Uncertain significance 876989 GRCh37: 1:147230970-147230970
GRCh38: 1:147758862-147758862
27 GJA5 NM_181703.4(GJA5):c.348G>A (p.Glu116=) SNV Uncertain significance 876990 GRCh37: 1:147230999-147230999
GRCh38: 1:147758891-147758891
28 GJA5 NM_181703.4(GJA5):c.478C>T (p.Arg160Cys) SNV Uncertain significance 970329 GRCh37: 1:147230869-147230869
GRCh38: 1:147758761-147758761
29 GJA5 NM_181703.4(GJA5):c.995G>A (p.Arg332His) SNV Uncertain significance 292448 rs116551187 GRCh37: 1:147230352-147230352
GRCh38: 1:147758244-147758244
30 GJA5 NM_181703.4(GJA5):c.995G>A (p.Arg332His) SNV Uncertain significance 292448 rs116551187 GRCh37: 1:147230352-147230352
GRCh38: 1:147758244-147758244
31 GJA5 NM_181703.4(GJA5):c.793C>T (p.Pro265Ser) SNV Uncertain significance 648482 rs148311482 GRCh37: 1:147230554-147230554
GRCh38: 1:147758446-147758446
32 GJA5 NM_181703.4(GJA5):c.479G>T (p.Arg160Leu) SNV Uncertain significance 844690 GRCh37: 1:147230868-147230868
GRCh38: 1:147758760-147758760
33 GJA5 NM_181703.4(GJA5):c.297T>G (p.Thr99=) SNV Uncertain significance 936909 GRCh37: 1:147231050-147231050
GRCh38: 1:147758942-147758942
34 GJA5 NM_181703.4(GJA5):c.358T>C (p.Ser120Pro) SNV Uncertain significance 963188 GRCh37: 1:147230989-147230989
GRCh38: 1:147758881-147758881
35 GJA5 NM_181703.4(GJA5):c.941A>G (p.Gln314Arg) SNV Uncertain significance 1001932 GRCh37: 1:147230406-147230406
GRCh38: 1:147758298-147758298
36 GJA5 NC_000001.10:g.(?_147230260)_(147245383_?)dup Duplication Uncertain significance 1007640 GRCh37: 1:147230260-147245383
GRCh38:
37 GJA5 NM_181703.4(GJA5):c.947G>A (p.Arg316His) SNV Uncertain significance 835840 GRCh37: 1:147230400-147230400
GRCh38: 1:147758292-147758292
38 GJA5 NM_181703.4(GJA5):c.199G>A (p.Asp67Asn) SNV Uncertain significance 1018451 GRCh37: 1:147231148-147231148
GRCh38: 1:147759040-147759040
39 GJA5 NM_181703.4(GJA5):c.787C>T (p.Pro263Ser) SNV Uncertain significance 1021422 GRCh37: 1:147230560-147230560
GRCh38: 1:147758452-147758452
40 GJA5 NM_181703.4(GJA5):c.771dup (p.Val258fs) Duplication Uncertain significance 1025426 GRCh37: 1:147230575-147230576
GRCh38: 1:147758467-147758468
41 GJA5 NM_181703.4(GJA5):c.744C>A (p.Cys248Ter) SNV Uncertain significance 632079 rs1557942871 GRCh37: 1:147230603-147230603
GRCh38: 1:147758495-147758495
42 GJA5 NM_181703.4(GJA5):c.241C>T (p.Gln81Ter) SNV Uncertain significance 632080 rs1557943827 GRCh37: 1:147231106-147231106
GRCh38: 1:147758998-147758998
43 GJA5 NM_181703.4(GJA5):c.148G>A (p.Ala50Thr) SNV Uncertain significance 638996 rs782167622 GRCh37: 1:147231199-147231199
GRCh38: 1:147759091-147759091
44 GJA5 NM_181703.4(GJA5):c.411G>T (p.Glu137Asp) SNV Uncertain significance 645730 rs200288659 GRCh37: 1:147230936-147230936
GRCh38: 1:147758828-147758828
45 GJA5 NC_000001.10:g.(?_147230260)_(147245383_?)del Deletion Uncertain significance 659591 GRCh37: 1:147230260-147245383
GRCh38:
46 GJA5 NM_181703.4(GJA5):c.199G>T (p.Asp67Tyr) SNV Uncertain significance 664564 rs150906806 GRCh37: 1:147231148-147231148
GRCh38: 1:147759040-147759040
47 GJA5 NC_000001.10:g.(?_147230250)_(147231366_?)dup Duplication Uncertain significance 471954 GRCh37: 1:147230250-147231366
GRCh38:
48 GJA5 NM_181703.4(GJA5):c.365C>T (p.Ser122Phe) SNV Uncertain significance 539329 rs781831348 GRCh37: 1:147230982-147230982
GRCh38: 1:147758874-147758874
49 GJA5 NM_181703.4(GJA5):c.977G>A (p.Gly326Glu) SNV Uncertain significance 566272 rs782703462 GRCh37: 1:147230370-147230370
GRCh38: 1:147758262-147758262
50 GJA5 NM_181703.4(GJA5):c.430G>A (p.Ala144Thr) SNV Uncertain significance 567064 rs782438073 GRCh37: 1:147230917-147230917
GRCh38: 1:147758809-147758809

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

72
# 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

Expression for Atrial Fibrillation, Familial, 11

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Pathways for Atrial Fibrillation, Familial, 11

GO Terms for Atrial Fibrillation, Familial, 11

Sources for Atrial Fibrillation, Familial, 11

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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