CEMCOX4
MCID: CRD192
MIFTS: 21

Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 4 (CEMCOX4)

Categories: Cardiovascular diseases, Genetic diseases, Metabolic diseases

Aliases & Classifications for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C...

MalaCards integrated aliases for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 4:

Name: Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 4 57 74 29 6
Cemcox4 57 74
Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency, Type 4 40
Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C Oxidase Deficiency 4 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero or at birth
two unrelated patients have been reported (last curated july 2015)
lethal in first weeks of life


HPO:

32
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080360
OMIM 57 616501

Summaries for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C...

UniProtKB/Swiss-Prot : 74 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4: An infantile disorder with a fatal course in the first weeks of life, characterized by hypertrophic cardiomyopathy, left ventricular non- compaction, lactic acidosis, metabolic hypotonia, and mitochondrial complex IV deficiency.

MalaCards based summary : Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 4, also known as cemcox4, is related to cardioencephalomyopathy. An important gene associated with Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 4 is COA6 (Cytochrome C Oxidase Assembly Factor 6). Related phenotypes are muscular hypotonia and hypertrophic cardiomyopathy

Disease Ontology : 12 A fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency that has material basis in homozygous or compound heterozygous mutation in the COA6 gene on chromosome 1q42.

More information from OMIM: 616501

Related Diseases for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C...

Diseases related to Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cardioencephalomyopathy 9.2 COA6-AS1 COA6

Symptoms & Phenotypes for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C...

Human phenotypes related to Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 4:

32
# Description HPO Frequency HPO Source Accession
1 muscular hypotonia 32 HP:0001252
2 hypertrophic cardiomyopathy 32 HP:0001639
3 lactic acidosis 32 HP:0003128
4 short chin 32 HP:0000331
5 left ventricular noncompaction 32 HP:0030682

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
hypertrophic cardiomyopathy
left ventricular noncompaction

Muscle Soft Tissue:
hypotonia metabolic : lactic acidosis

Head And Neck Face:
small chin
abnormal facies
flat orbital ridges

Laboratory Abnormalities:
mitochondrial complex iv deficiency in cardiac tissue

Clinical features from OMIM:

616501

Drugs & Therapeutics for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C...

Search Clinical Trials , NIH Clinical Center for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 4

Genetic Tests for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C...

Genetic tests related to Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 4:

# Genetic test Affiliating Genes
1 Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 4 29 COA6

Anatomical Context for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C...

Publications for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C...

Articles related to Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 4:

# Title Authors PMID Year
1
COA6 is a mitochondrial complex IV assembly factor critical for biogenesis of mtDNA-encoded COX2. 8 71
26160915 2015
2
Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy. 8 71
25339201 2015
3
Copper supplementation restores cytochrome c oxidase assembly defect in a mitochondrial disease model of COA6 deficiency. 8 71
24549041 2014
4
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. 8 71
22277967 2012
5
Cooperation between COA6 and SCO2 in COX2 maturation during cytochrome c oxidase assembly links two mitochondrial cardiomyopathies. 71
25959673 2015

Variations for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C...

ClinVar genetic disease variations for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 4:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 COA6 NM_001206641.3(COA6): c.267G> C (p.Trp89Cys) single nucleotide variant Pathogenic 1:234510030-234510030 1:234374284-234374284
2 COA6 NM_001206641.3(COA6): c.349G> T (p.Glu117Ter) single nucleotide variant Pathogenic rs146440690 1:234510112-234510112 1:234374366-234374366
3 COA6 NM_001206641.3(COA6): c.286T> C (p.Trp96Arg) single nucleotide variant Pathogenic rs875989827 1:234510049-234510049 1:234374303-234374303

UniProtKB/Swiss-Prot genetic disease variations for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 4:

74
# Symbol AA change Variation ID SNP ID
1 COA6 p.Trp59Cys VAR_075046
2 COA6 p.Trp66Arg VAR_075047 rs875989827

Expression for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C...

Search GEO for disease gene expression data for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 4.

Pathways for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C...

GO Terms for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C...

Sources for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C...

3 CDC
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11 DGIdb
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34 ICD10 via Orphanet
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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