ATFB15
MCID: ATR092
MIFTS: 18

Atrial Fibrillation, Familial, 15 (ATFB15)

Categories: Blood diseases, Cardiovascular diseases, Genetic 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 58 76 30 6 74
Atfb15 58 76
Fibrillation, Atrial, Familial, Type 15 41
Atrial Fibrillation 15 58

Characteristics:

OMIM:

58
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:

33
atrial fibrillation, familial, 15:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 615770
MeSH 45 D001281
SNOMED-CT via HPO 70 258211005 49436004 5370000
UMLS 74 C4014269

Summaries for Atrial Fibrillation, Familial, 15

OMIM : 58 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)

MalaCards based summary : Atrial Fibrillation, Familial, 15, is also known as atfb15. 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 : 76 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:

33
# Description HPO Frequency HPO Source Accession
1 atrial fibrillation 33 HP:0005110
2 atrial flutter 33 HP:0004749

Symptoms via clinical synopsis from OMIM:

58
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

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 30 NUP155

Anatomical Context for Atrial Fibrillation, Familial, 15

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

42
Heart

Publications for Atrial Fibrillation, Familial, 15

Variations for Atrial Fibrillation, Familial, 15

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

76
# Symbol AA change Variation ID SNP ID
1 NUP155 p.Arg391His VAR_071762 rs587777339

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NUP155 NM_153485.2(NUP155): c.1172G> A (p.Arg391His) single nucleotide variant Pathogenic rs587777339 GRCh38 Chromosome 5, 37341164: 37341164
2 NUP155 NM_153485.2(NUP155): c.1172G> A (p.Arg391His) single nucleotide variant Pathogenic rs587777339 GRCh37 Chromosome 5, 37341266: 37341266

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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