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 56 73 29 13 6 71
Atfb6 56 73
Fibrillation, Atrial, Familial, Type 6 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
mean age of diagnosis 40 years


HPO:

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


Classifications:



External Ids:

OMIM 56 612201
OMIM Phenotypic Series 56 PS608583
MeSH 43 D001281
MedGen 41 C2677294
SNOMED-CT via HPO 68 263681008 49436004
UMLS 71 C2677294

Summaries for Atrial Fibrillation, Familial, 6

OMIM : 56 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 cardiovascular system disease and atrial standstill 2. 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 : 73 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:

56
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:

40
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. 6 56
19646991 2010
2
Atrial natriuretic peptide frameshift mutation in familial atrial fibrillation. 6 56
18614783 2008
3
Identification of NPPA variants associated with atrial fibrillation in a Chinese GeneID population. 56
20064500 2010
4
A familial mutation renders atrial natriuretic Peptide resistant to proteolytic degradation. 6
19458086 2009
5
Identification of a genetic locus for familial atrial fibrillation. 56
9070470 1997

Variations for Atrial Fibrillation, Familial, 6

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

6 (show all 30) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NPPA NM_006172.4(NPPA):c.456_*1del (p.Ter152TrpextTer?)deletion Pathogenic 17788 rs587776851 1:11906065-11906066 1:11846008-11846009
2 NPPA NM_006172.4(NPPA):c.190A>C (p.Ser64Arg)SNV Conflicting interpretations of pathogenicity 126847 rs61757261 1:11907430-11907430 1:11847373-11847373
3 NPPA NM_006172.4(NPPA):c.253G>A (p.Gly85Arg)SNV Uncertain significance 240293 rs749353276 1:11907367-11907367 1:11847310-11847310
4 NPPA NM_006172.4(NPPA):c.23C>T (p.Thr8Ile)SNV Uncertain significance 537320 rs142653342 1:11907719-11907719 1:11847662-11847662
5 NPPA NM_006172.4(NPPA):c.176C>T (p.Pro59Leu)SNV Uncertain significance 537321 rs759999149 1:11907444-11907444 1:11847387-11847387
6 NPPA NM_006172.4(NPPA):c.273_274GA[2] (p.Asp93fs)short repeat Uncertain significance 537322 rs774165756 1:11907342-11907343 1:11847285-11847286
7 NPPA NM_006172.4(NPPA):c.370A>G (p.Ser124Gly)SNV Uncertain significance 574575 rs1215729892 1:11907250-11907250 1:11847193-11847193
8 NPPA NM_006172.4(NPPA):c.85T>C (p.Tyr29His)SNV Uncertain significance 580618 rs771777356 1:11907657-11907657 1:11847600-11847600
9 NPPA NM_006172.4(NPPA):c.78T>A (p.Asn26Lys)SNV Uncertain significance 240294 rs770401799 1:11907664-11907664 1:11847607-11847607
10 NPPA NM_006172.4(NPPA):c.172G>A (p.Val58Met)SNV Uncertain significance 410071 rs768114654 1:11907448-11907448 1:11847391-11847391
11 NPPA NM_006172.4(NPPA):c.197C>T (p.Pro66Leu)SNV Uncertain significance 469605 rs150794709 1:11907423-11907423 1:11847366-11847366
12 NPPA NM_006172.4(NPPA):c.425G>A (p.Ser142Asn)SNV Uncertain significance 469608 rs781197146 1:11907195-11907195 1:11847138-11847138
13 NPPA NM_006172.4(NPPA):c.219_227del (p.Ser75_Leu77del)deletion Uncertain significance 573319 rs1557442938 1:11907393-11907401 1:11847336-11847344
14 NPPA NM_006172.4(NPPA):c.367C>A (p.Arg123=)SNV Uncertain significance 652171 1:11907253-11907253 1:11847196-11847196
15 NPPA NM_006172.4(NPPA):c.350C>T (p.Ala117Val)SNV Uncertain significance 643252 1:11907270-11907270 1:11847213-11847213
16 NPPA NM_006172.4(NPPA):c.208G>T (p.Ala70Ser)SNV Uncertain significance 642370 1:11907412-11907412 1:11847355-11847355
17 NPPA NM_006172.4(NPPA):c.112A>G (p.Met38Val)SNV Uncertain significance 644514 1:11907630-11907630 1:11847573-11847573
18 covers 21 genes, none of which curated to show dosage sensitivity NC_000001.11:g.(?_11012634)_(11934865_?)deldeletion Uncertain significance 830841 1:11072691-11994922
19 NPPA NM_006172.4(NPPA):c.346_354del (p.Arg116_Leu118del)deletion Uncertain significance 840195 1:11907266-11907274 1:11847209-11847217
20 NPPA NM_006172.4(NPPA):c.118T>C (p.Phe40Leu)SNV Uncertain significance 857219 1:11907624-11907624 1:11847567-11847567
21 NPPA NM_006172.4(NPPA):c.89A>G (p.Asn30Ser)SNV Uncertain significance 836403 1:11907653-11907653 1:11847596-11847596
22 NPPA NM_006172.4(NPPA):c.16_18ACC[2] (p.Thr8del)short repeat Uncertain significance 842219 1:11907718-11907720 1:11847661-11847663
23 NPPA NM_006172.4(NPPA):c.198G>A (p.Pro66=)SNV Likely benign 469606 rs767807184 1:11907422-11907422 1:11847365-11847365
24 NPPA NM_006172.4(NPPA):c.171C>T (p.Val57=)SNV Likely benign 469604 rs61757262 1:11907449-11907449 1:11847392-11847392
25 NPPA NM_006172.4(NPPA):c.272A>G (p.Gln91Arg)SNV Likely benign 469607 rs201879717 1:11907348-11907348 1:11847291-11847291
26 NPPA NM_006172.4(NPPA):c.135C>T (p.Asp45=)SNV Likely benign 415935 rs148712945 1:11907485-11907485 1:11847428-11847428
27 NPPA NM_006172.4(NPPA):c.292G>A (p.Gly98Arg)SNV Likely benign 415936 rs142022010 1:11907328-11907328 1:11847271-11847271
28 NPPA NM_006172.4(NPPA):c.352C>A (p.Leu118Met)SNV Likely benign 578290 rs147081122 1:11907268-11907268 1:11847211-11847211
29 NPPA NM_006172.4(NPPA):c.252C>T (p.Thr84=)SNV Likely benign 240292 rs755212754 1:11907368-11907368 1:11847311-11847311
30 NPPA NM_006172.4(NPPA):c.83T>C (p.Met28Thr)SNV Benign/Likely benign 415934 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....