SCFI
MCID: SDD009
MIFTS: 24

Sudden Cardiac Failure, Infantile (SCFI)

Categories: Genetic diseases

Aliases & Classifications for Sudden Cardiac Failure, Infantile

MalaCards integrated aliases for Sudden Cardiac Failure, Infantile:

Name: Sudden Cardiac Failure, Infantile 57 72 29 6
Scfi 57 72

Characteristics:

OMIM®:

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

Miscellaneous:
patients die within the first 2 years of life from sudden unexpected heart failure with severe bradycardia or asystole


HPO:

31
sudden cardiac failure, infantile:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Sudden Cardiac Failure, Infantile

UniProtKB/Swiss-Prot : 72 Sudden cardiac failure, infantile: A disease characterized by sudden death within the first 2 years of life due to unexpected cardiac arrest. Some patients manifest hypertrophic cardiomyopathy, lipid accumulation in myocardium, degeneration of mitochondrial cristae, metabolic acidosis, and elevated plasma lactate levels. SCFI transmission pattern is consistent with autosomal recessive inheritance.

MalaCards based summary : Sudden Cardiac Failure, Infantile, is also known as scfi. An important gene associated with Sudden Cardiac Failure, Infantile is PPA2 (Inorganic Pyrophosphatase 2). Affiliated tissues include heart, skeletal muscle and kidney, and related phenotypes are hypertrophic cardiomyopathy and metabolic acidosis

More information from OMIM: 617222

Related Diseases for Sudden Cardiac Failure, Infantile

Symptoms & Phenotypes for Sudden Cardiac Failure, Infantile

Human phenotypes related to Sudden Cardiac Failure, Infantile:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 hypertrophic cardiomyopathy 31 occasional (7.5%) HP:0001639
2 metabolic acidosis 31 occasional (7.5%) HP:0001942
3 generalized hypotonia 31 occasional (7.5%) HP:0001290
4 seizure 31 occasional (7.5%) HP:0001250
5 congestive heart failure 31 HP:0001635
6 myocarditis 31 HP:0012819
7 bradycardia 31 HP:0001662
8 myocardial fibrosis 31 HP:0001685

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Cardiovascular Heart:
myocarditis
myocardial fibrosis
heart failure
hypertrophic cardiomyopathy (in some patients)
bradycardia, severe
more
Metabolic Features:
metabolic acidosis (in some patients)
elevated plasma lactate levels (in some patients)

Abdomen Liver:
fatty deposits in liver (in some patients)

Neurologic Central Nervous System:
seizures (in some patients)

Muscle Soft Tissue:
hypotonia (in some patients)
fatty deposits in skeletal muscle (in some patients)

Genitourinary Kidneys:
fatty deposits in kidney (in 1 patient)

Clinical features from OMIM®:

617222 (Updated 20-May-2021)

Drugs & Therapeutics for Sudden Cardiac Failure, Infantile

Search Clinical Trials , NIH Clinical Center for Sudden Cardiac Failure, Infantile

Genetic Tests for Sudden Cardiac Failure, Infantile

Genetic tests related to Sudden Cardiac Failure, Infantile:

# Genetic test Affiliating Genes
1 Sudden Cardiac Failure, Infantile 29 PPA2

Anatomical Context for Sudden Cardiac Failure, Infantile

MalaCards organs/tissues related to Sudden Cardiac Failure, Infantile:

40
Heart, Skeletal Muscle, Kidney, Liver

Publications for Sudden Cardiac Failure, Infantile

Articles related to Sudden Cardiac Failure, Infantile:

(show all 13)
# 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 57
27523598 2016
3
Improvement on the productivity of continuous tequila fermentation by Saccharomyces cerevisiae of Agave tequilana juice with supplementation of yeast extract and aeration. 61
27447701 2016
4
A Randomized Control Trial for Evaluating Efficacies of Two Online Cognitive Interventions With and Without Fear-Appeal Imagery Approaches in Preventing Unprotected Anal Sex Among Chinese Men Who Have Sex with Men. 61
26802004 2016
5
Dynamic phase measurement based on spatial carrier-frequency phase-shifting method. 61
27410538 2016
6
Dual-wavelength interferometry based on the spatial carrier-frequency phase-shifting method. 61
27140574 2016
7
Optimizing topical antifungal therapy for superficial cutaneous fungal infections: focus on topical naftifine for cutaneous dermatophytosis. 61
24196340 2013
8
Drinking water fluoride levels for a city in northern Mexico (durango) determined using a direct electrochemical method and their potential effects on oral health. 61
24348140 2013
9
Effects of controlled-release fertiliser on nitrogen use efficiency in summer maize. 61
23936449 2013
10
Quality evaluation of beef carcasses produced under tropical conditions of México. 61
23048152 2013
11
Used battery collection in central Mexico: metal content, legislative/management situation and statistical analysis. 61
20933320 2012
12
Purification and characteristics of the streptococcal chemotactic factor inactivator. 61
3905613 1985
13
Mechanism of action of the group A streptococcal C5a inactivator. 61
3906656 1985

Variations for Sudden Cardiac Failure, Infantile

ClinVar genetic disease variations for Sudden Cardiac Failure, Infantile:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PPA2 NM_176869.3(PPA2):c.881A>C (p.Gln294Pro) SNV Pathogenic 372221 rs1057517678 GRCh37: 4:106307782-106307782
GRCh38: 4:105386625-105386625
2 PPA2 NM_176869.3(PPA2):c.280A>G (p.Met94Val) SNV Pathogenic 372223 rs1057517679 GRCh37: 4:106370548-106370548
GRCh38: 4:105449391-105449391
3 PPA2 NM_176869.3(PPA2):c.500C>T (p.Pro167Leu) SNV Pathogenic 372227 rs546693824 GRCh37: 4:106359135-106359135
GRCh38: 4:105437978-105437978
4 PPA2 NM_176869.3(PPA2):c.318G>T (p.Met106Ile) SNV Pathogenic 372224 rs1057517680 GRCh37: 4:106370510-106370510
GRCh38: 4:105449353-105449353
5 PPA2 NM_176869.3(PPA2):c.938C>A (p.Ser313Ter) SNV Pathogenic 620292 rs151331559 GRCh37: 4:106307725-106307725
GRCh38: 4:105386568-105386568
6 PPA2 NM_176869.3(PPA2):c.962_965del (p.Glu321fs) Microsatellite Pathogenic 1031742 GRCh37: 4:106292005-106292008
GRCh38: 4:105370848-105370851
7 PPA2 NM_176869.3(PPA2):c.939+1G>T SNV Pathogenic 1034388 GRCh37: 4:106307723-106307723
GRCh38: 4:105386566-105386566
8 PPA2 NM_176869.3(PPA2):c.514G>A (p.Glu172Lys) SNV Pathogenic/Likely pathogenic 372222 rs146013446 GRCh37: 4:106359121-106359121
GRCh38: 4:105437964-105437964
9 PPA2 NM_176869.3(PPA2):c.380G>T (p.Arg127Leu) SNV Pathogenic/Likely pathogenic 372225 rs139076647 GRCh37: 4:106367601-106367601
GRCh38: 4:105446444-105446444
10 PPA2 NM_176869.3(PPA2):c.182C>T (p.Ser61Phe) SNV Likely pathogenic 372220 rs772083375 GRCh37: 4:106377878-106377878
GRCh38: 4:105456721-105456721
11 PPA2 NM_176869.3(PPA2):c.442A>T (p.Thr148Ser) SNV Likely pathogenic 873541 GRCh37: 4:106359193-106359193
GRCh38: 4:105438036-105438036

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

72
# Symbol AA change Variation ID SNP ID
1 PPA2 p.Ser61Pro VAR_077866
2 PPA2 p.Met94Val VAR_077867 rs105751767
3 PPA2 p.Met106Ile VAR_077868 rs105751768
4 PPA2 p.Arg127Leu VAR_077869 rs139076647
5 PPA2 p.Pro167Leu VAR_077870 rs546693824
6 PPA2 p.Glu172Lys VAR_077871 rs146013446
7 PPA2 p.Gln294Pro VAR_077873 rs105751767

Expression for Sudden Cardiac Failure, Infantile

Search GEO for disease gene expression data for Sudden Cardiac Failure, Infantile.

Pathways for Sudden Cardiac Failure, Infantile

GO Terms for Sudden Cardiac Failure, Infantile

Sources for Sudden Cardiac Failure, Infantile

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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