ATFB15
MCID: ATR092
MIFTS: 24

Atrial Fibrillation, Familial, 15 (ATFB15)

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

Aliases & Classifications for Atrial Fibrillation, Familial, 15

MalaCards integrated aliases for Atrial Fibrillation, Familial, 15:

Name: Atrial Fibrillation, Familial, 15 57 72 29 6 70
Atrial Fibrillation 15 57 29
Atfb15 57 72
Fibrillation, Atrial, Familial, Type 15 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
arrhythmias detected prenatally (in some patients)
frequent neonatal sudden death
waxing and waning cardiomyopathy (in some patients)
based on 1 uruguayan family (last curated april 2014)


HPO:

31
atrial fibrillation, familial, 15:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 615770
OMIM Phenotypic Series 57 PS608583
MeSH 44 D001281
SNOMED-CT via HPO 68 258211005 49436004 5370000
UMLS 70 C4014269

Summaries for Atrial Fibrillation, Familial, 15

OMIM® : 57 Atrial fibrillation (AF) is a supraventricular tachyarrhythmia characterized by uncoordinated atrial activation with consequent deterioration of atrial mechanical function. It is the most common sustained cardiac rhythm disturbance, and its prevalence increases as the population ages. An estimated 70,000 strokes each year are caused by atrial fibrillation (summary by Oberti et al., 2004). For a discussion of genetic heterogeneity of atrial fibrillation, see 608583. (615770) (Updated 20-May-2021)

MalaCards based summary : Atrial Fibrillation, Familial, 15, is also known as atrial fibrillation 15. An important gene associated with Atrial Fibrillation, Familial, 15 is NUP155 (Nucleoporin 155). Affiliated tissues include heart, and related phenotypes are atrial fibrillation and atrial flutter

UniProtKB/Swiss-Prot : 72 Atrial fibrillation, familial, 15: 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, 15

Human phenotypes related to Atrial Fibrillation, Familial, 15:

31
# Description HPO Frequency HPO Source Accession
1 atrial fibrillation 31 HP:0005110
2 atrial flutter 31 HP:0004749

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Cardiovascular Heart:
atrial fibrillation
atrial flutter
absent or difficult-to-count p waves on electrocardiogram (ecg)
fast atrial rate
inconsistent r-r intervals on ecg
more

Clinical features from OMIM®:

615770 (Updated 20-May-2021)

Drugs & Therapeutics for Atrial Fibrillation, Familial, 15

Search Clinical Trials , NIH Clinical Center for Atrial Fibrillation, Familial, 15

Genetic Tests for Atrial Fibrillation, Familial, 15

Genetic tests related to Atrial Fibrillation, Familial, 15:

# Genetic test Affiliating Genes
1 Atrial Fibrillation, Familial, 15 29 NUP155
2 Atrial Fibrillation 15 29

Anatomical Context for Atrial Fibrillation, Familial, 15

MalaCards organs/tissues related to Atrial Fibrillation, Familial, 15:

40
Heart

Publications for Atrial Fibrillation, Familial, 15

Articles related to Atrial Fibrillation, Familial, 15:

(show all 35)
# Title Authors PMID Year
1
Mutation in nuclear pore component NUP155 leads to atrial fibrillation and early sudden cardiac death. 6 57
19070573 2008
2
Genome-wide linkage scan identifies a novel genetic locus on chromosome 5p13 for neonatal atrial fibrillation associated with sudden death and variable cardiomyopathy. 57 6
15596564 2004
3
Risk of stroke and transient ischaemic attack in patients with a diagnosis of resolved atrial fibrillation: retrospective cohort studies. 61
29743285 2018
4
Nonpegylated liposomal doxorubicin combination regimen in patients with diffuse large B-cell lymphoma and cardiac comorbidity. Results of the HEART01 phase II trial conducted by the Fondazione Italiana Linfomi. 61
28524259 2018
5
The increasing burden of atrial fibrillation in acute medical admissions, an opportunity to optimise stroke prevention. 61
29537402 2017
6
Transcatheter aortic valve implantation versus surgical aortic valve replacement in patients over 85 years old. 61
28962494 2017
7
Perioperative management of vitamin K antagonists in patients with low thromboembolic risk undergoing elective surgery: A prospective experience. 61
28283268 2017
8
Analysis of adults with congenital heart disease presenting to pediatric emergency departments with arrhythmias. 61
28544787 2017
9
Profiling cardiac arrhythmia and heart failure patients in India: The Pan-arrhythmia and Heart Failure Observational Study. 61
28460772 2017
10
Perioperative management of patients treated with angiotensin-converting enzyme inhibitors and angiotensin II receptor blockers: a quality improvement audit. 61
27246933 2016
11
Very long-term follow-up after percutaneous closure of patent foramen ovale. 61
24429213 2015
12
Effects of levosimendan in patients with left ventricular hypertrophy undergoing aortic valve replacement. 61
25348510 2015
13
Aortic valve replacement via right minithoracotomy versus median sternotomy: a propensity score analysis. 61
24758951 2014
14
Predicting costs of care in heart failure patients. 61
23194470 2012
15
Electrocardiographic abnormalities in centenarians and octogenarians: a case-matched study. 61
23094883 2012
16
Rapid access cardiology--a nine year review. 61
21976600 2012
17
Preoperative C-reactive protein predicts respiratory infection after coronary artery bypass graft surgery. 61
21971635 2011
18
Stroke aphasia: 1,500 consecutive cases. 61
21346340 2011
19
Impact of preoperative atrial fibrillation on the late outcome of off-pump coronary artery bypass surgery. 61
20304667 2010
20
Effect of cardiac resynchronization therapy on conversion of persistent atrial fibrillation to sinus rhythm. 61
19034378 2009
21
[Relationships between age and accessory pathway location in Wolff-Parkinson-White syndrome]. 61
18550025 2008
22
Different effects of antiarrhythmic drugs on the rate-dependency of QT interval: a study with amiodarone and flecainide. 61
18030063 2007
23
Electrocardiographic findings in 888 patients > or =90 years of age. 61
17126661 2006
24
[Clinical peculiarities of pathogenetic subtypes of vertebrobasilar transient ischemic attacks in elderly and aged patients]. 61
18196630 2006
25
Ethnicity and variation in prognosis for patients newly hospitalised for heart failure: a matched historical cohort study. 61
15797930 2005
26
Stroke registry in Kaohsiung Veterans General Hospital. 61
12365647 2002
27
[Prevention of thromboembolic disease in patients with heart disease]. 61
11100597 2000
28
Glucose-insulin-potassium solutions improve outcomes in diabetics who have coronary artery operations. 61
10921699 2000
29
[A new diagnostic concept in cardiac pacing for the evaluation of the incidence of atrial arrhythmias. Results of the AIDA study]. 61
10410810 1999
30
Tricuspid inflow and regurgitant flow dynamics after mitral valve replacement: differences relating to surgical repair of the tricuspid valve. 61
9130130 1997
31
Arrhythmias in newborn thoroughbred foals. 61
1606928 1992
32
Etiology and pathogenesis of thromboembolism. 61
1765343 1991
33
111In platelet imaging of left ventricular thrombi. Predictive value for systemic emboli. 61
2317901 1990
34
Evaluation of the temperature response to exercise testing in patients with single chamber, rate adaptive pacemakers: a multicenter study. 61
2478981 1989
35
Intravenous flecainide acetate for supraventricular tachycardias. 61
3136630 1988

Variations for Atrial Fibrillation, Familial, 15

ClinVar genetic disease variations for Atrial Fibrillation, Familial, 15:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NUP155 NM_153485.3(NUP155):c.1172G>A (p.Arg391His) SNV Pathogenic 127142 rs587777339 GRCh37: 5:37341266-37341266
GRCh38: 5:37341164-37341164
2 NUP155 NM_153485.3(NUP155):c.1204G>A (p.Val402Met) SNV Uncertain significance 870608 GRCh37: 5:37341234-37341234
GRCh38: 5:37341132-37341132
3 NUP155 NM_153485.3(NUP155):c.3226C>T (p.Arg1076Cys) SNV Uncertain significance 1032504 GRCh37: 5:37303453-37303453
GRCh38: 5:37303351-37303351

UniProtKB/Swiss-Prot genetic disease variations for Atrial Fibrillation, Familial, 15:

72
# Symbol AA change Variation ID SNP ID
1 NUP155 p.Arg391His VAR_071762 rs587777339

Expression for Atrial Fibrillation, Familial, 15

Search GEO for disease gene expression data for Atrial Fibrillation, Familial, 15.

Pathways for Atrial Fibrillation, Familial, 15

GO Terms for Atrial Fibrillation, Familial, 15

Sources for Atrial Fibrillation, Familial, 15

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
34 ICD9CM
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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