ATFB6
MCID: ATR035
MIFTS: 24

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 57 74 29 13 6 72
Atfb6 57 74
Fibrillation, Atrial, Familial, Type 6 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
mean age of diagnosis 40 years


HPO:

32
atrial fibrillation, familial, 6:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

MeSH 44 D001281
MedGen 42 C2677294
UMLS 72 C2677294

Summaries for Atrial Fibrillation, Familial, 6

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. (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 : 74 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:

32
# Description HPO Frequency HPO Source Accession
1 atrial fibrillation 32 HP:0005110

Symptoms via clinical synopsis from OMIM:

57
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 29 NPPA

Anatomical Context for Atrial Fibrillation, Familial, 6

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

41
Heart

Publications for Atrial Fibrillation, Familial, 6

Articles related to Atrial Fibrillation, Familial, 6:

# Title Authors PMID Year
1
Augmented potassium current is a shared phenotype for two genetic defects associated with familial atrial fibrillation. 8 71
19646991 2010
2
Atrial natriuretic peptide frameshift mutation in familial atrial fibrillation. 8 71
18614783 2008
3
Identification of NPPA variants associated with atrial fibrillation in a Chinese GeneID population. 8
20064500 2010
4
A familial mutation renders atrial natriuretic Peptide resistant to proteolytic degradation. 71
19458086 2009
5
Identification of a genetic locus for familial atrial fibrillation. 8
9070470 1997

Variations for Atrial Fibrillation, Familial, 6

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

6 (show all 25)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NPPA NM_006172.4(NPPA): c.456_*1del (p.Ter152TrpextTer?) deletion Pathogenic rs587776851 1:11906065-11906066 1:11846008-11846009
2 NPPA NM_006172.4(NPPA): c.190A> C (p.Ser64Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs61757261 1:11907430-11907430 1:11847373-11847373
3 NPPA NM_006172.4(NPPA): c.352C> A (p.Leu118Met) single nucleotide variant Conflicting interpretations of pathogenicity 1:11907268-11907268 1:11847211-11847211
4 NPPA NM_006172.4(NPPA): c.219_227del (p.Ser75_Leu77del) deletion Uncertain significance 1:11907393-11907401 1:11847336-11847344
5 NPPA NM_006172.4(NPPA): c.367C> A (p.Arg123=) single nucleotide variant Uncertain significance 1:11907253-11907253 1:11847196-11847196
6 NPPA NM_006172.4(NPPA): c.350C> T (p.Ala117Val) single nucleotide variant Uncertain significance 1:11907270-11907270 1:11847213-11847213
7 NPPA NM_006172.4(NPPA): c.208G> T (p.Ala70Ser) single nucleotide variant Uncertain significance 1:11907412-11907412 1:11847355-11847355
8 NPPA NM_006172.4(NPPA): c.112A> G (p.Met38Val) single nucleotide variant Uncertain significance 1:11907630-11907630 1:11847573-11847573
9 NPPA NM_006172.4(NPPA): c.253G> A (p.Gly85Arg) single nucleotide variant Uncertain significance rs749353276 1:11907367-11907367 1:11847310-11847310
10 NPPA NM_006172.4(NPPA): c.23C> T (p.Thr8Ile) single nucleotide variant Uncertain significance rs142653342 1:11907719-11907719 1:11847662-11847662
11 NPPA NM_006172.4(NPPA): c.176C> T (p.Pro59Leu) single nucleotide variant Uncertain significance rs759999149 1:11907444-11907444 1:11847387-11847387
12 NPPA NM_006172.4(NPPA): c.273_274GA[2] (p.Asp93fs) short repeat Uncertain significance rs774165756 1:11907342-11907343 1:11847285-11847286
13 NPPA NM_006172.4(NPPA): c.78T> A (p.Asn26Lys) single nucleotide variant Uncertain significance rs770401799 1:11907664-11907664 1:11847607-11847607
14 NPPA NM_006172.4(NPPA): c.370A> G (p.Ser124Gly) single nucleotide variant Uncertain significance 1:11907250-11907250 1:11847193-11847193
15 NPPA NM_006172.4(NPPA): c.85T> C (p.Tyr29His) single nucleotide variant Uncertain significance 1:11907657-11907657 1:11847600-11847600
16 NPPA NM_006172.4(NPPA): c.172G> A (p.Val58Met) single nucleotide variant Uncertain significance rs768114654 1:11907448-11907448 1:11847391-11847391
17 NPPA NM_006172.4(NPPA): c.272A> G (p.Gln91Arg) single nucleotide variant Uncertain significance rs201879717 1:11907348-11907348 1:11847291-11847291
18 NPPA NM_006172.4(NPPA): c.197C> T (p.Pro66Leu) single nucleotide variant Uncertain significance rs150794709 1:11907423-11907423 1:11847366-11847366
19 NPPA NM_006172.4(NPPA): c.425G> A (p.Ser142Asn) single nucleotide variant Uncertain significance rs781197146 1:11907195-11907195 1:11847138-11847138
20 NPPA NM_006172.4(NPPA): c.198G> A (p.Pro66=) single nucleotide variant Likely benign rs767807184 1:11907422-11907422 1:11847365-11847365
21 NPPA NM_006172.4(NPPA): c.135C> T (p.Asp45=) single nucleotide variant Likely benign rs148712945 1:11907485-11907485 1:11847428-11847428
22 NPPA NM_006172.4(NPPA): c.292G> A (p.Gly98Arg) single nucleotide variant Likely benign rs142022010 1:11907328-11907328 1:11847271-11847271
23 NPPA NM_006172.4(NPPA): c.252C> T (p.Thr84=) single nucleotide variant Likely benign rs755212754 1:11907368-11907368 1:11847311-11847311
24 NPPA NM_006172.4(NPPA): c.171C> T (p.Val57=) single nucleotide variant Likely benign rs61757262 1:11907449-11907449 1:11847392-11847392
25 NPPA NM_006172.4(NPPA): c.83T> C (p.Met28Thr) single nucleotide variant Benign/Likely benign rs142116829 1:11907659-11907659 1:11847602-11847602

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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