ATFB6
MCID: ATR035
MIFTS: 24

Atrial Fibrillation, Familial, 6 (ATFB6)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Mental 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 72 29 13 6 70
Atfb6 57 72
Fibrillation, Atrial, Familial, Type 6 39

Characteristics:

OMIM®:

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

Miscellaneous:
mean age of diagnosis 40 years


HPO:

31
atrial fibrillation, familial, 6:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 612201
OMIM Phenotypic Series 57 PS608583
MeSH 44 D001281
MedGen 41 C2677294
SNOMED-CT via HPO 68 263681008 49436004
UMLS 70 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) (Updated 05-Apr-2021)

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

UniProtKB/Swiss-Prot : 72 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:

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
dilation of left atrial chamber
dilation of left ventricular chamber

Clinical features from OMIM®:

612201 (Updated 05-Apr-2021)

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

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. 6 57
19646991 2010
2
Identification of NPPA variants associated with atrial fibrillation in a Chinese GeneID population. 57
20064500 2010
3
A familial mutation renders atrial natriuretic Peptide resistant to proteolytic degradation. 6
19458086 2009
4
Atrial natriuretic peptide frameshift mutation in familial atrial fibrillation. 57
18614783 2008
5
Identification of a genetic locus for familial atrial fibrillation. 57
9070470 1997

Variations for Atrial Fibrillation, Familial, 6

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

6 (show all 43)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NPPA-AS1 , NPPA NM_006172.4(NPPA):c.456_*1del (p.Ter152TrpextTer?) Deletion Pathogenic 17788 rs587776851 GRCh37: 1:11906065-11906066
GRCh38: 1:11846008-11846009
2 NPPA-AS1 , LOC114827827 , NPPA NM_006172.4(NPPA):c.273_274GA[2] (p.Asp93fs) Microsatellite Conflicting interpretations of pathogenicity 537322 rs774165756 GRCh37: 1:11907342-11907343
GRCh38: 1:11847285-11847286
3 LOC114827827 , NPPA NM_006172.4(NPPA):c.59T>C (p.Leu20Pro) SNV Uncertain significance 1035991 GRCh37: 1:11907683-11907683
GRCh38: 1:11847626-11847626
4 NPPA-AS1 , LOC114827827 , NPPA NM_006172.4(NPPA):c.449G>A (p.Arg150Gln) SNV Uncertain significance 126846 rs202102042 GRCh37: 1:11907171-11907171
GRCh38: 1:11847114-11847114
5 overlap with 21 genes NC_000001.11:g.(?_11012634)_(11934865_?)del Deletion Uncertain significance 830841 GRCh37: 1:11072691-11994922
GRCh38:
6 NPPA-AS1 , LOC114827827 , NPPA NM_006172.4(NPPA):c.370A>G (p.Ser124Gly) SNV Uncertain significance 574575 rs1215729892 GRCh37: 1:11907250-11907250
GRCh38: 1:11847193-11847193
7 NPPA-AS1 , LOC114827827 , NPPA NM_006172.4(NPPA):c.89A>G (p.Asn30Ser) SNV Uncertain significance 836403 GRCh37: 1:11907653-11907653
GRCh38: 1:11847596-11847596
8 NPPA-AS1 , LOC114827827 , NPPA NM_006172.4(NPPA):c.368G>A (p.Arg123Gln) SNV Uncertain significance 936415 GRCh37: 1:11907252-11907252
GRCh38: 1:11847195-11847195
9 NPPA-AS1 , LOC114827827 , NPPA NM_006172.4(NPPA):c.103G>A (p.Ala35Thr) SNV Uncertain significance 938596 GRCh37: 1:11907639-11907639
GRCh38: 1:11847582-11847582
10 NPPA-AS1 , LOC114827827 , NPPA NM_006172.4(NPPA):c.316G>C (p.Asp106His) SNV Uncertain significance 998849 GRCh37: 1:11907304-11907304
GRCh38: 1:11847247-11847247
11 NPPA NM_006172.4(NPPA):c.377G>A (p.Arg126Gln) SNV Uncertain significance 872949 rs1803268 GRCh37:
GRCh38:
12 NPPA-AS1 , LOC114827827 , NPPA NM_006172.4(NPPA):c.206A>C (p.Glu69Ala) SNV Uncertain significance 432823 rs376184349 GRCh37: 1:11907414-11907414
GRCh38: 1:11847357-11847357
13 LOC114827827 , NPPA NM_006172.4(NPPA):c.19A>G (p.Thr7Ala) SNV Uncertain significance 1011647 GRCh37: 1:11907723-11907723
GRCh38: 1:11847666-11847666
14 NPPA-AS1 , LOC114827827 , NPPA NM_006172.4(NPPA):c.112A>G (p.Met38Val) SNV Uncertain significance 644514 rs764360980 GRCh37: 1:11907630-11907630
GRCh38: 1:11847573-11847573
15 NPPA-AS1 , LOC114827827 , NPPA NM_006172.4(NPPA):c.154C>T (p.Pro52Ser) SNV Uncertain significance 1025429 GRCh37: 1:11907466-11907466
GRCh38: 1:11847409-11847409
16 LOC114827827 , NPPA NM_006172.4(NPPA):c.25G>A (p.Val9Met) SNV Uncertain significance 944170 GRCh37: 1:11907717-11907717
GRCh38: 1:11847660-11847660
17 NPPA-AS1 , LOC114827827 , NPPA NM_006172.4(NPPA):c.319C>T (p.Arg107Ter) SNV Uncertain significance 948535 GRCh37: 1:11907301-11907301
GRCh38: 1:11847244-11847244
18 NPPA-AS1 , LOC114827827 , NPPA NM_006172.4(NPPA):c.78T>A (p.Asn26Lys) SNV Uncertain significance 240294 rs770401799 GRCh37: 1:11907664-11907664
GRCh38: 1:11847607-11847607
19 NPPA-AS1 , LOC114827827 , NPPA NM_006172.4(NPPA):c.253G>A (p.Gly85Arg) SNV Uncertain significance 240293 rs749353276 GRCh37: 1:11907367-11907367
GRCh38: 1:11847310-11847310
20 NPPA-AS1 , LOC114827827 , NPPA NM_006172.4(NPPA):c.172G>A (p.Val58Met) SNV Uncertain significance 410071 rs768114654 GRCh37: 1:11907448-11907448
GRCh38: 1:11847391-11847391
21 NPPA-AS1 , LOC114827827 , NPPA NM_006172.4(NPPA):c.425G>A (p.Ser142Asn) SNV Uncertain significance 469608 rs781197146 GRCh37: 1:11907195-11907195
GRCh38: 1:11847138-11847138
22 NPPA-AS1 , LOC114827827 , NPPA NM_006172.4(NPPA):c.197C>T (p.Pro66Leu) SNV Uncertain significance 469605 rs150794709 GRCh37: 1:11907423-11907423
GRCh38: 1:11847366-11847366
23 LOC114827827 , NPPA NM_006172.4(NPPA):c.23C>T (p.Thr8Ile) SNV Uncertain significance 537320 rs142653342 GRCh37: 1:11907719-11907719
GRCh38: 1:11847662-11847662
24 NPPA-AS1 , LOC114827827 , NPPA NM_006172.4(NPPA):c.176C>T (p.Pro59Leu) SNV Uncertain significance 537321 rs759999149 GRCh37: 1:11907444-11907444
GRCh38: 1:11847387-11847387
25 NPPA-AS1 , LOC114827827 , NPPA NM_006172.4(NPPA):c.219_227del (p.Ser75_Leu77del) Deletion Uncertain significance 573319 rs1557442938 GRCh37: 1:11907393-11907401
GRCh38: 1:11847336-11847344
26 NPPA-AS1 , LOC114827827 , NPPA NM_006172.4(NPPA):c.85T>C (p.Tyr29His) SNV Uncertain significance 580618 rs771777356 GRCh37: 1:11907657-11907657
GRCh38: 1:11847600-11847600
27 NPPA-AS1 , LOC114827827 , NPPA NM_006172.4(NPPA):c.253G>A (p.Gly85Arg) SNV Uncertain significance 240293 rs749353276 GRCh37: 1:11907367-11907367
GRCh38: 1:11847310-11847310
28 NPPA-AS1 , LOC114827827 , NPPA NM_006172.4(NPPA):c.208G>T (p.Ala70Ser) SNV Uncertain significance 642370 rs1433555315 GRCh37: 1:11907412-11907412
GRCh38: 1:11847355-11847355
29 NPPA-AS1 , LOC114827827 , NPPA NM_006172.4(NPPA):c.350C>T (p.Ala117Val) SNV Uncertain significance 643252 rs72639212 GRCh37: 1:11907270-11907270
GRCh38: 1:11847213-11847213
30 NPPA-AS1 , LOC114827827 , NPPA NM_006172.4(NPPA):c.367C>A (p.Arg123=) SNV Uncertain significance 652171 rs377057675 GRCh37: 1:11907253-11907253
GRCh38: 1:11847196-11847196
31 NPPA-AS1 , LOC114827827 , NPPA NM_006172.4(NPPA):c.346_354del (p.Arg116_Leu118del) Deletion Uncertain significance 840195 GRCh37: 1:11907266-11907274
GRCh38: 1:11847209-11847217
32 LOC114827827 , NPPA NM_006172.4(NPPA):c.16_18ACC[2] (p.Thr8del) Microsatellite Uncertain significance 842219 GRCh37: 1:11907718-11907720
GRCh38: 1:11847661-11847663
33 NPPA-AS1 , LOC114827827 , NPPA NM_006172.4(NPPA):c.118T>C (p.Phe40Leu) SNV Uncertain significance 857219 GRCh37: 1:11907624-11907624
GRCh38: 1:11847567-11847567
34 NPPA-AS1 , LOC114827827 , NPPA NM_006172.4(NPPA):c.337A>G (p.Ser113Gly) SNV Uncertain significance 967364 GRCh37: 1:11907283-11907283
GRCh38: 1:11847226-11847226
35 NPPA-AS1 , LOC114827827 , NPPA NM_006172.4(NPPA):c.83T>C (p.Met28Thr) SNV Likely benign 415934 rs142116829 GRCh37: 1:11907659-11907659
GRCh38: 1:11847602-11847602
36 NPPA-AS1 , LOC114827827 , NPPA NM_006172.4(NPPA):c.272A>G (p.Gln91Arg) SNV Likely benign 469607 rs201879717 GRCh37: 1:11907348-11907348
GRCh38: 1:11847291-11847291
37 NPPA-AS1 , LOC114827827 , NPPA NM_006172.4(NPPA):c.352C>A (p.Leu118Met) SNV Likely benign 578290 rs147081122 GRCh37: 1:11907268-11907268
GRCh38: 1:11847211-11847211
38 NPPA-AS1 , LOC114827827 , NPPA NM_006172.4(NPPA):c.198G>A (p.Pro66=) SNV Likely benign 469606 rs767807184 GRCh37: 1:11907422-11907422
GRCh38: 1:11847365-11847365
39 NPPA-AS1 , LOC114827827 , NPPA NM_006172.4(NPPA):c.292G>A (p.Gly98Arg) SNV Likely benign 415936 rs142022010 GRCh37: 1:11907328-11907328
GRCh38: 1:11847271-11847271
40 NPPA-AS1 , LOC114827827 , NPPA NM_006172.4(NPPA):c.171C>T (p.Val57=) SNV Likely benign 469604 rs61757262 GRCh37: 1:11907449-11907449
GRCh38: 1:11847392-11847392
41 NPPA-AS1 , LOC114827827 , NPPA NM_006172.4(NPPA):c.135C>T (p.Asp45=) SNV Likely benign 415935 rs148712945 GRCh37: 1:11907485-11907485
GRCh38: 1:11847428-11847428
42 NPPA-AS1 , LOC114827827 , NPPA NM_006172.4(NPPA):c.252C>T (p.Thr84=) SNV Likely benign 240292 rs755212754 GRCh37: 1:11907368-11907368
GRCh38: 1:11847311-11847311
43 NPPA-AS1 , LOC114827827 , NPPA NM_006172.4(NPPA):c.190A>C (p.Ser64Arg) SNV Benign 126847 rs61757261 GRCh37: 1:11907430-11907430
GRCh38: 1:11847373-11847373

Expression for Atrial Fibrillation, Familial, 6

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Pathways for Atrial Fibrillation, Familial, 6

GO Terms for Atrial Fibrillation, Familial, 6

Sources for Atrial Fibrillation, Familial, 6

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61 PubMed
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71 UMLS via Orphanet
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