MCID: ATR074
MIFTS: 20

Atrial Standstill 2

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Atrial Standstill 2

MalaCards integrated aliases for Atrial Standstill 2:

Name: Atrial Standstill 2 57 75 29 6 73
Atrial Dilation and Standstill 57 75
Atrst2 57 75
Cardiomyopathy, Atrial Dilated, with Atrial Standstill 57
Atrial Dilated Cardiomyopathy with Atrial Standstill 75
Standstill, Atrial, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset of symptoms in the fourth to sixth decade of life


HPO:

32
atrial standstill 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 615745
UMLS 73 C3810401

Summaries for Atrial Standstill 2

OMIM : 57 Atrial standstill (AS) is a rare condition characterized by the absence of electrical and mechanical activity in the atria. On surface ECG, AS is distinguished by bradycardia, junctional (usually narrow complex) escape rhythm, and absence of the P wave. Nearly 50% of patients with AS experience syncope. AS can be persistent or transient, and diffuse or partial (summary by Fazelifar et al., 2005). (615745)

MalaCards based summary : Atrial Standstill 2, also known as atrial dilation and standstill, is related to atrial fibrillation, familial, 6 and atrial standstill. An important gene associated with Atrial Standstill 2 is NPPA (Natriuretic Peptide A). Related phenotypes are cardiomyopathy and bradycardia

UniProtKB/Swiss-Prot : 75 Atrial standstill 2: A rare arrhythmia characterized by the absence of electrical and mechanical activity in the atria. Electrocardiographically, it is characterized by bradycardia, the absence of P waves, and a junctional narrow complex escape rhythm.

Related Diseases for Atrial Standstill 2

Diseases in the Atrial Standstill family:

Atrial Standstill 1 Atrial Standstill 2

Diseases related to Atrial Standstill 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 atrial fibrillation, familial, 6 9.2 NPPA NPPA-AS1
2 atrial standstill 9.0 NPPA NPPA-AS1

Symptoms & Phenotypes for Atrial Standstill 2

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
progressive biatrial enlargement
progressive decrease in atrial voltage
bradycardia
absence of p wave on electrocardiography
no atrial electrical activity on endocavitary recordings
more

Clinical features from OMIM:

615745

Human phenotypes related to Atrial Standstill 2:

32
# Description HPO Frequency HPO Source Accession
1 cardiomyopathy 32 HP:0001638
2 bradycardia 32 HP:0001662

Drugs & Therapeutics for Atrial Standstill 2

Search Clinical Trials , NIH Clinical Center for Atrial Standstill 2

Genetic Tests for Atrial Standstill 2

Genetic tests related to Atrial Standstill 2:

# Genetic test Affiliating Genes
1 Atrial Standstill 2 29 NPPA

Anatomical Context for Atrial Standstill 2

Publications for Atrial Standstill 2

Variations for Atrial Standstill 2

UniProtKB/Swiss-Prot genetic disease variations for Atrial Standstill 2:

75
# Symbol AA change Variation ID SNP ID
1 NPPA p.Arg150Gln VAR_071307

ClinVar genetic disease variations for Atrial Standstill 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NPPA NM_006172.3(NPPA): c.449G> A (p.Arg150Gln) single nucleotide variant Pathogenic rs202102042 GRCh37 Chromosome 1, 11907171: 11907171
2 NPPA NM_006172.3(NPPA): c.449G> A (p.Arg150Gln) single nucleotide variant Pathogenic rs202102042 GRCh38 Chromosome 1, 11847114: 11847114

Expression for Atrial Standstill 2

Search GEO for disease gene expression data for Atrial Standstill 2.

Pathways for Atrial Standstill 2

GO Terms for Atrial Standstill 2

Sources for Atrial Standstill 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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