ATFB6
MCID: ATR035
MIFTS: 21

Atrial Fibrillation, Familial, 6 (ATFB6)

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

Aliases & Classifications for Atrial Fibrillation, Familial, 6

MalaCards integrated aliases for Atrial Fibrillation, Familial, 6:

Name: Atrial Fibrillation, Familial, 6 58 76 30 13 6 74
Atfb6 58 76
Fibrillation, Atrial, Familial, Type 6 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
mean age of diagnosis 40 years


HPO:

33
atrial fibrillation, familial, 6:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 612201
MeSH 45 D001281
MedGen 43 C2677294
SNOMED-CT via HPO 70 263681008 49436004
UMLS 74 C2677294

Summaries for Atrial Fibrillation, Familial, 6

OMIM : 58 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. (612201)

MalaCards based summary : Atrial Fibrillation, Familial, 6, also known as atfb6, is related to atrial standstill 2 and atrial standstill. An important gene associated with Atrial Fibrillation, Familial, 6 is NPPA (Natriuretic Peptide A). Affiliated tissues include heart, and related phenotype is atrial fibrillation.

UniProtKB/Swiss-Prot : 76 Atrial fibrillation, familial, 6: 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, 6

Symptoms & Phenotypes for Atrial Fibrillation, Familial, 6

Human phenotypes related to Atrial Fibrillation, Familial, 6:

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

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
atrial fibrillation
dilation of left atrial chamber
dilation of left ventricular chamber

Clinical features from OMIM:

612201

Drugs & Therapeutics for Atrial Fibrillation, Familial, 6

Search Clinical Trials , NIH Clinical Center for Atrial Fibrillation, Familial, 6

Genetic Tests for Atrial Fibrillation, Familial, 6

Genetic tests related to Atrial Fibrillation, Familial, 6:

# Genetic test Affiliating Genes
1 Atrial Fibrillation, Familial, 6 30 NPPA

Anatomical Context for Atrial Fibrillation, Familial, 6

MalaCards organs/tissues related to Atrial Fibrillation, Familial, 6:

42
Heart

Publications for Atrial Fibrillation, Familial, 6

Articles related to Atrial Fibrillation, Familial, 6:

# Title Authors Year
1
Augmented potassium current is a shared phenotype for two genetic defects associated with familial atrial fibrillation. ( 19646991 )
2010
2
A familial mutation renders atrial natriuretic Peptide resistant to proteolytic degradation. ( 19458086 )
2009
3
Atrial natriuretic peptide frameshift mutation in familial atrial fibrillation. ( 18614783 )
2008

Variations for Atrial Fibrillation, Familial, 6

ClinVar genetic disease variations for Atrial Fibrillation, Familial, 6:

6 (show all 42)
# Gene Variation Type Significance SNP ID Assembly Location
1 NPPA NM_006172.3(NPPA): c.456_*1delAA deletion Pathogenic rs587776851 GRCh37 Chromosome 1, 11906065: 11906066
2 NPPA NM_006172.3(NPPA): c.456_*1delAA deletion Pathogenic rs587776851 GRCh38 Chromosome 1, 11846008: 11846009
3 NPPA NM_006172.3(NPPA): c.190A> C (p.Ser64Arg) single nucleotide variant Likely benign rs61757261 GRCh37 Chromosome 1, 11907430: 11907430
4 NPPA NM_006172.3(NPPA): c.190A> C (p.Ser64Arg) single nucleotide variant Likely benign rs61757261 GRCh38 Chromosome 1, 11847373: 11847373
5 NPPA NM_006172.3(NPPA): c.252C> T (p.Thr84=) single nucleotide variant Likely benign rs755212754 GRCh37 Chromosome 1, 11907368: 11907368
6 NPPA NM_006172.3(NPPA): c.253G> A (p.Gly85Arg) single nucleotide variant Uncertain significance rs749353276 GRCh37 Chromosome 1, 11907367: 11907367
7 NPPA NM_006172.3(NPPA): c.253G> A (p.Gly85Arg) single nucleotide variant Uncertain significance rs749353276 GRCh38 Chromosome 1, 11847310: 11847310
8 NPPA NM_006172.3(NPPA): c.252C> T (p.Thr84=) single nucleotide variant Likely benign rs755212754 GRCh38 Chromosome 1, 11847311: 11847311
9 NPPA NM_006172.3(NPPA): c.78T> A (p.Asn26Lys) single nucleotide variant Uncertain significance rs770401799 GRCh37 Chromosome 1, 11907664: 11907664
10 NPPA NM_006172.3(NPPA): c.78T> A (p.Asn26Lys) single nucleotide variant Uncertain significance rs770401799 GRCh38 Chromosome 1, 11847607: 11847607
11 NPPA NM_006172.3(NPPA): c.135C> T (p.Asp45=) single nucleotide variant Likely benign rs148712945 GRCh37 Chromosome 1, 11907485: 11907485
12 NPPA NM_006172.3(NPPA): c.172G> A (p.Val58Met) single nucleotide variant Uncertain significance rs768114654 GRCh37 Chromosome 1, 11907448: 11907448
13 NPPA NM_006172.3(NPPA): c.172G> A (p.Val58Met) single nucleotide variant Uncertain significance rs768114654 GRCh38 Chromosome 1, 11847391: 11847391
14 NPPA NM_006172.3(NPPA): c.135C> T (p.Asp45=) single nucleotide variant Likely benign rs148712945 GRCh38 Chromosome 1, 11847428: 11847428
15 NPPA NM_006172.3(NPPA): c.292G> A (p.Gly98Arg) single nucleotide variant Likely benign rs142022010 GRCh37 Chromosome 1, 11907328: 11907328
16 NPPA NM_006172.3(NPPA): c.292G> A (p.Gly98Arg) single nucleotide variant Likely benign rs142022010 GRCh38 Chromosome 1, 11847271: 11847271
17 NPPA NM_006172.3(NPPA): c.83T> C (p.Met28Thr) single nucleotide variant Likely benign rs142116829 GRCh37 Chromosome 1, 11907659: 11907659
18 NPPA NM_006172.3(NPPA): c.83T> C (p.Met28Thr) single nucleotide variant Likely benign rs142116829 GRCh38 Chromosome 1, 11847602: 11847602
19 NPPA NM_006172.3(NPPA): c.171C> T (p.Val57=) single nucleotide variant Likely benign rs61757262 GRCh37 Chromosome 1, 11907449: 11907449
20 NPPA NM_006172.3(NPPA): c.171C> T (p.Val57=) single nucleotide variant Likely benign rs61757262 GRCh38 Chromosome 1, 11847392: 11847392
21 NPPA NM_006172.3(NPPA): c.272A> G (p.Gln91Arg) single nucleotide variant Uncertain significance rs201879717 GRCh37 Chromosome 1, 11907348: 11907348
22 NPPA NM_006172.3(NPPA): c.272A> G (p.Gln91Arg) single nucleotide variant Uncertain significance rs201879717 GRCh38 Chromosome 1, 11847291: 11847291
23 NPPA NM_006172.3(NPPA): c.197C> T (p.Pro66Leu) single nucleotide variant Uncertain significance rs150794709 GRCh37 Chromosome 1, 11907423: 11907423
24 NPPA NM_006172.3(NPPA): c.197C> T (p.Pro66Leu) single nucleotide variant Uncertain significance rs150794709 GRCh38 Chromosome 1, 11847366: 11847366
25 NPPA NM_006172.3(NPPA): c.425G> A (p.Ser142Asn) single nucleotide variant Uncertain significance rs781197146 GRCh37 Chromosome 1, 11907195: 11907195
26 NPPA NM_006172.3(NPPA): c.425G> A (p.Ser142Asn) single nucleotide variant Uncertain significance rs781197146 GRCh38 Chromosome 1, 11847138: 11847138
27 NPPA NM_006172.3(NPPA): c.198G> A (p.Pro66=) single nucleotide variant Likely benign rs767807184 GRCh37 Chromosome 1, 11907422: 11907422
28 NPPA NM_006172.3(NPPA): c.198G> A (p.Pro66=) single nucleotide variant Likely benign rs767807184 GRCh38 Chromosome 1, 11847365: 11847365
29 NPPA NM_006172.3(NPPA): c.23C> T (p.Thr8Ile) single nucleotide variant Uncertain significance rs142653342 GRCh38 Chromosome 1, 11847662: 11847662
30 NPPA NM_006172.3(NPPA): c.23C> T (p.Thr8Ile) single nucleotide variant Uncertain significance rs142653342 GRCh37 Chromosome 1, 11907719: 11907719
31 NPPA NM_006172.3(NPPA): c.176C> T (p.Pro59Leu) single nucleotide variant Uncertain significance rs759999149 GRCh38 Chromosome 1, 11847387: 11847387
32 NPPA NM_006172.3(NPPA): c.176C> T (p.Pro59Leu) single nucleotide variant Uncertain significance rs759999149 GRCh37 Chromosome 1, 11907444: 11907444
33 NPPA NM_006172.3(NPPA): c.277_278delGA (p.Asp93Trpfs) deletion Uncertain significance rs774165756 GRCh38 Chromosome 1, 11847285: 11847286
34 NPPA NM_006172.3(NPPA): c.277_278delGA (p.Asp93Trpfs) deletion Uncertain significance rs774165756 GRCh37 Chromosome 1, 11907342: 11907343
35 NPPA NM_006172.3(NPPA): c.370A> G (p.Ser124Gly) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 11907250: 11907250
36 NPPA NM_006172.3(NPPA): c.370A> G (p.Ser124Gly) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 11847193: 11847193
37 NPPA NM_006172.3(NPPA): c.85T> C (p.Tyr29His) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 11847600: 11847600
38 NPPA NM_006172.3(NPPA): c.85T> C (p.Tyr29His) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 11907657: 11907657
39 NPPA NM_006172.3(NPPA): c.352C> A (p.Leu118Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 11847211: 11847211
40 NPPA NM_006172.3(NPPA): c.352C> A (p.Leu118Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 11907268: 11907268
41 NPPA NM_006172.3(NPPA): c.219_227delTCTCAGCCC (p.Ser75_Leu77del) deletion Uncertain significance GRCh37 Chromosome 1, 11907393: 11907401
42 NPPA NM_006172.3(NPPA): c.219_227delTCTCAGCCC (p.Ser75_Leu77del) deletion Uncertain significance GRCh38 Chromosome 1, 11847336: 11847344

Expression for Atrial Fibrillation, Familial, 6

Search GEO for disease gene expression data for Atrial Fibrillation, Familial, 6.

Pathways for Atrial Fibrillation, Familial, 6

GO Terms for Atrial Fibrillation, Familial, 6

Sources for Atrial Fibrillation, Familial, 6

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