MCID: CRD192
MIFTS: 17

Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 4

Categories: Genetic diseases, Cardiovascular 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 75 29 6
Cemcox4 57 75
Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency, Type 4 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:



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

UniProtKB/Swiss-Prot : 75 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

Description 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 9.0 COA6 LOC101927765

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
abnormal facies
small chin
flat orbital ridges

Muscle Soft Tissue:
hypotonia metabolic : lactic acidosis

Cardiovascular Heart:
hypertrophic cardiomyopathy
left ventricular noncompaction

Laboratory Abnormalities:
mitochondrial complex iv deficiency in cardiac tissue


Clinical features from OMIM:

616501

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

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...

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

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

75
# Symbol AA change Variation ID SNP ID
1 COA6 p.Trp59Cys VAR_075046
2 COA6 p.Trp66Arg VAR_075047 rs875989827

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 COA6 COA6, TRP59CYS undetermined variant Pathogenic
2 COA6 NM_001206641.2(COA6): c.349G> T (p.Glu117Ter) single nucleotide variant Pathogenic rs146440690 GRCh37 Chromosome 1, 234510112: 234510112
3 COA6 NM_001206641.2(COA6): c.349G> T (p.Glu117Ter) single nucleotide variant Pathogenic rs146440690 GRCh38 Chromosome 1, 234374366: 234374366
4 COA6 NM_001206641.2(COA6): c.286T> C (p.Trp96Arg) single nucleotide variant Pathogenic rs875989827 GRCh37 Chromosome 1, 234510049: 234510049
5 COA6 NM_001206641.2(COA6): c.286T> C (p.Trp96Arg) single nucleotide variant Pathogenic rs875989827 GRCh38 Chromosome 1, 234374303: 234374303

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
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
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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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