SCFAI
MCID: SDD010
MIFTS: 14

Sudden Cardiac Failure, Alcohol-Induced (SCFAI)

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 72 29 6
Scfai 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

31
sudden cardiac failure, alcohol-induced:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 617223
MeSH 44 D016757
SNOMED-CT via HPO 68 258211005

Summaries for Sudden Cardiac Failure, Alcohol-Induced

UniProtKB/Swiss-Prot : 72 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 (Inorganic Pyrophosphatase 2). Related phenotype is myocardial fibrosis.

More information from OMIM: 617223

Related Diseases for Sudden Cardiac Failure, Alcohol-Induced

Symptoms & Phenotypes for Sudden Cardiac Failure, Alcohol-Induced

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

31 (showing 1, show less)
# Description HPO Frequency HPO Source Accession
1 myocardial fibrosis 31 HP:0001685

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Cardiovascular Heart:
myocardial fibrosis
ventricular dilation (in some patients)

Clinical features from OMIM®:

617223 (Updated 20-May-2021)

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

Genetic tests related to Sudden Cardiac Failure, Alcohol-Induced:

# Genetic test Affiliating Genes
1 Sudden Cardiac Failure, Alcohol-Induced 29 PPA2

Anatomical Context for Sudden Cardiac Failure, Alcohol-Induced

Publications for Sudden Cardiac Failure, Alcohol-Induced

Articles related to Sudden Cardiac Failure, Alcohol-Induced:

(showing 2, show less)
# Title Authors PMID Year
1
Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2. 6 57
27523597 2016
2
Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy. 6
27523598 2016

Variations for Sudden Cardiac Failure, Alcohol-Induced

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

6 (showing 2, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PPA2 NM_176869.3(PPA2):c.514G>A (p.Glu172Lys) SNV Pathogenic 372222 rs146013446 GRCh37: 4:106359121-106359121
GRCh38: 4:105437964-105437964
2 PPA2 NM_176869.3(PPA2):c.683C>T (p.Pro228Leu) SNV Pathogenic 372226 rs138215926 GRCh37: 4:106320294-106320294
GRCh38: 4:105399137-105399137

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

72 (showing 2, show less)
# Symbol AA change Variation ID SNP ID
1 PPA2 p.Glu172Lys VAR_077871 rs146013446
2 PPA2 p.Pro228Leu VAR_077872 rs138215926

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 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
Content
Loading form....