CEMCOX3
MCID: CRD193
MIFTS: 17

Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 3 (CEMCOX3)

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 3:

Name: Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 3 58 76 30 6
Cemcox3 58 76
Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency, Type 3 41
Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C Oxidase Deficiency 3 12

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero
lethal in first weeks of life
one consanguineous turkish family has been reported (last curated july 2015)


HPO:

33
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080359
OMIM 58 616500
SNOMED-CT via HPO 70 233873004 258211005 45227007

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

UniProtKB/Swiss-Prot : 76 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3: An infantile disorder with a fatal course in the first weeks of life, characterized by hypertrophic cardiomyopathy and mitochondrial complex IV deficiency. Postmortem microscopic investigations show accumulation of lipid droplets in cardiomyocytes and mitochondrial proliferation.

MalaCards based summary : Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 3, is also known as cemcox3. An important gene associated with Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 3 is COA5 (Cytochrome C Oxidase Assembly Factor 5). Affiliated tissues include heart, and related phenotype is hypertrophic cardiomyopathy.

Disease Ontology : 12 A fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency that has material basis in homozygous mutation in the COA5 gene on chromosome 2q11.

Description from OMIM: 616500

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

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

Human phenotypes related to Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 3:

33
# Description HPO Frequency HPO Source Accession
1 hypertrophic cardiomyopathy 33 HP:0001639

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
hypertrophic cardiomyopathy
cardiomyocytes show an accumulation of lipid droplets and mitochondrial proliferation

Laboratory Abnormalities:
mitochondrial complex iv deficiency in fibroblasts and heart muscle

Clinical features from OMIM:

616500

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 3

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

Genetic tests related to Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 3:

# Genetic test Affiliating Genes
1 Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 3 30 COA5

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

MalaCards organs/tissues related to Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 3:

42
Heart

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

Articles related to Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 3:

# Title Authors Year
1
A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy. ( 21457908 )
2011

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 3:

76
# Symbol AA change Variation ID SNP ID
1 COA5 p.Ala53Pro VAR_065499 rs387907099

ClinVar genetic disease variations for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 COA5 NM_001008215.2(COA5): c.157G> C (p.Ala53Pro) single nucleotide variant Pathogenic rs387907099 GRCh37 Chromosome 2, 99220597: 99220597
2 COA5 NM_001008215.2(COA5): c.157G> C (p.Ala53Pro) single nucleotide variant Pathogenic rs387907099 GRCh38 Chromosome 2, 98604134: 98604134

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 3.

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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