CEMCOX3
MCID: CRD193
MIFTS: 15

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

Categories: Cardiovascular diseases, Genetic 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 57 75 29 6
Cemcox3 57 75
Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency, Type 3 40

Characteristics:

OMIM:

57
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:

32
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 616500
SNOMED-CT via HPO 69 258211005 233873004 45227007

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

UniProtKB/Swiss-Prot : 75 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.

Description from OMIM: 616500

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

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32
# Description HPO Frequency HPO Source Accession
1 hypertrophic cardiomyopathy 32 HP:0001639

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 29 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:

41
Heart

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 3:

75
# 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
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
Content
Loading form....