MCID: SDD010
MIFTS: 11

Sudden Cardiac Failure, Alcohol-Induced

Categories: Genetic diseases

Aliases & Classifications for Sudden Cardiac Failure, Alcohol-Induced

MalaCards integrated aliases for Sudden Cardiac Failure, Alcohol-Induced:

Name: Sudden Cardiac Failure, Alcohol-Induced 57 75 6
Scfai 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
sudden cardiac failure occurs with ingestion of small amounts of alcohol
based on report of 1 family with 4 affected sibs (last curated november 2016)


HPO:

32
sudden cardiac failure, alcohol-induced:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 617223
MeSH 44 D016757
SNOMED-CT via HPO 69 258211005

Summaries for Sudden Cardiac Failure, Alcohol-Induced

UniProtKB/Swiss-Prot : 75 Sudden cardiac failure, alcohol-induced: An autosomal recessive disease characterized by sudden death due to unexpected cardiac arrest following ingestion of small amounts of alcohol.

MalaCards based summary : Sudden Cardiac Failure, Alcohol-Induced, is also known as scfai. An important gene associated with Sudden Cardiac Failure, Alcohol-Induced is PPA2 (Pyrophosphatase (Inorganic) 2). Related phenotype is myocardial fibrosis.

Description from OMIM: 617223

Related Diseases for Sudden Cardiac Failure, Alcohol-Induced

Symptoms & Phenotypes for Sudden Cardiac Failure, Alcohol-Induced

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
myocardial fibrosis
ventricular dilation (in some patients)


Clinical features from OMIM:

617223

Human phenotypes related to Sudden Cardiac Failure, Alcohol-Induced:

32
# Description HPO Frequency HPO Source Accession
1 myocardial fibrosis 32 HP:0001685

Drugs & Therapeutics for Sudden Cardiac Failure, Alcohol-Induced

Search Clinical Trials , NIH Clinical Center for Sudden Cardiac Failure, Alcohol-Induced

Genetic Tests for Sudden Cardiac Failure, Alcohol-Induced

Anatomical Context for Sudden Cardiac Failure, Alcohol-Induced

Publications for Sudden Cardiac Failure, Alcohol-Induced

Variations for Sudden Cardiac Failure, Alcohol-Induced

UniProtKB/Swiss-Prot genetic disease variations for Sudden Cardiac Failure, Alcohol-Induced:

75
# Symbol AA change Variation ID SNP ID
1 PPA2 p.Glu172Lys VAR_077871 rs146013446
2 PPA2 p.Pro228Leu VAR_077872 rs138215926

ClinVar genetic disease variations for Sudden Cardiac Failure, Alcohol-Induced:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PPA2 NM_176869.2(PPA2): c.514G> A (p.Glu172Lys) single nucleotide variant Pathogenic rs146013446 GRCh38 Chromosome 4, 105437964: 105437964
2 PPA2 NM_176869.2(PPA2): c.514G> A (p.Glu172Lys) single nucleotide variant Pathogenic rs146013446 GRCh37 Chromosome 4, 106359121: 106359121
3 PPA2 NM_176869.2(PPA2): c.683C> T (p.Pro228Leu) single nucleotide variant Pathogenic rs138215926 GRCh38 Chromosome 4, 105399137: 105399137
4 PPA2 NM_176869.2(PPA2): c.683C> T (p.Pro228Leu) single nucleotide variant Pathogenic rs138215926 GRCh37 Chromosome 4, 106320294: 106320294

Expression for Sudden Cardiac Failure, Alcohol-Induced

Search GEO for disease gene expression data for Sudden Cardiac Failure, Alcohol-Induced.

Pathways for Sudden Cardiac Failure, Alcohol-Induced

GO Terms for Sudden Cardiac Failure, Alcohol-Induced

Sources for Sudden Cardiac Failure, Alcohol-Induced

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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