SCFI
MCID: SDD009
MIFTS: 20

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 58 76 6
Scfi 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
sudden cardiac failure, infantile:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Sudden Cardiac Failure, Infantile

UniProtKB/Swiss-Prot : 76 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 (Pyrophosphatase (Inorganic) 2). Affiliated tissues include heart, kidney and skeletal muscle, and related phenotypes are seizures and hypertrophic cardiomyopathy

Description 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:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 seizures 33 occasional (7.5%) HP:0001250
2 hypertrophic cardiomyopathy 33 occasional (7.5%) HP:0001639
3 metabolic acidosis 33 occasional (7.5%) HP:0001942
4 generalized hypotonia 33 occasional (7.5%) HP:0001290
5 congestive heart failure 33 HP:0001635
6 myocarditis 33 HP:0012819
7 bradycardia 33 HP:0001662
8 myocardial fibrosis 33 HP:0001685

Symptoms via clinical synopsis from OMIM:

58
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

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

Anatomical Context for Sudden Cardiac Failure, Infantile

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

42
Heart, Kidney, Skeletal Muscle, Liver

Publications for Sudden Cardiac Failure, Infantile

Articles related to Sudden Cardiac Failure, Infantile:

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

Variations for Sudden Cardiac Failure, Infantile

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

76
# 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

ClinVar genetic disease variations for Sudden Cardiac Failure, Infantile:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 PPA2 NM_176869.2(PPA2): c.182C> T (p.Ser61Phe) single nucleotide variant Likely pathogenic rs772083375 GRCh38 Chromosome 4, 105456721: 105456721
2 PPA2 NM_176869.2(PPA2): c.182C> T (p.Ser61Phe) single nucleotide variant Likely pathogenic rs772083375 GRCh37 Chromosome 4, 106377878: 106377878
3 PPA2 NM_176869.2(PPA2): c.881A> C (p.Gln294Pro) single nucleotide variant Pathogenic rs1057517678 GRCh37 Chromosome 4, 106307782: 106307782
4 PPA2 NM_176869.2(PPA2): c.881A> C (p.Gln294Pro) single nucleotide variant Pathogenic rs1057517678 GRCh38 Chromosome 4, 105386625: 105386625
5 PPA2 NM_176869.2(PPA2): c.514G> A (p.Glu172Lys) single nucleotide variant Pathogenic rs146013446 GRCh38 Chromosome 4, 105437964: 105437964
6 PPA2 NM_176869.2(PPA2): c.514G> A (p.Glu172Lys) single nucleotide variant Pathogenic rs146013446 GRCh37 Chromosome 4, 106359121: 106359121
7 PPA2 NM_176869.2(PPA2): c.280A> G (p.Met94Val) single nucleotide variant Pathogenic rs1057517679 GRCh37 Chromosome 4, 106370548: 106370548
8 PPA2 NM_176869.2(PPA2): c.280A> G (p.Met94Val) single nucleotide variant Pathogenic rs1057517679 GRCh38 Chromosome 4, 105449391: 105449391
9 PPA2 NM_176869.2(PPA2): c.318G> T (p.Met106Ile) single nucleotide variant Pathogenic rs1057517680 GRCh37 Chromosome 4, 106370510: 106370510
10 PPA2 NM_176869.2(PPA2): c.318G> T (p.Met106Ile) single nucleotide variant Pathogenic rs1057517680 GRCh38 Chromosome 4, 105449353: 105449353
11 PPA2 NM_176869.2(PPA2): c.380G> T (p.Arg127Leu) single nucleotide variant Likely pathogenic rs139076647 GRCh37 Chromosome 4, 106367601: 106367601
12 PPA2 NM_176869.2(PPA2): c.380G> T (p.Arg127Leu) single nucleotide variant Likely pathogenic rs139076647 GRCh38 Chromosome 4, 105446444: 105446444
13 PPA2 NM_176869.2(PPA2): c.500C> T (p.Pro167Leu) single nucleotide variant Pathogenic rs546693824 GRCh37 Chromosome 4, 106359135: 106359135
14 PPA2 NM_176869.2(PPA2): c.500C> T (p.Pro167Leu) single nucleotide variant Pathogenic rs546693824 GRCh38 Chromosome 4, 105437978: 105437978

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

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75 UMLS via Orphanet
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