CEMCOX2
MCID: CRD158
MIFTS: 19

Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 2 (CEMCOX2)

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 2:

Name: Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 2 58 76 30 13 6 74
Cemcox2 58 76
Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency, Type 2 41
Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C Oxidase Deficiency 2 12

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2:
Inheritance autosomal recessive inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 76 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2: An infantile disorder, with a rapidly progressive fatal course, characterized by cytochrome c oxidase deficiency. Clinical features include microcephaly, encephalopathy, hypertrophic cardiomyopathy, persistent lactic acidosis, respiratory distress, hypotonia and seizures. Postmortem cardiac muscle studies show marked complex IV deficiency. Complex IV activity is only slightly decreased in the skeletal muscle.

MalaCards based summary : Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 2, is also known as cemcox2. An important gene associated with Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 2 is COX15 (Cytochrome C Oxidase Assembly Homolog COX15). Affiliated tissues include skeletal muscle, and related phenotypes are microcephaly and hepatic steatosis

Disease Ontology : 12 A fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency that has material basis in compound heterozygous mutation in the COX15 gene on chromosome 10q24.

Description from OMIM: 615119

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 2:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 microcephaly 33 HP:0000252
2 hepatic steatosis 33 HP:0001397
3 cardiomyopathy 33 HP:0001638
4 decreased fetal movement 33 HP:0001558
5 generalized hypotonia 33 HP:0001290
6 encephalopathy 33 HP:0001298
7 gliosis 33 HP:0002171

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
microcephaly

Muscle Soft Tissue:
hypotonia
increased intermyofibrillar and subsarcolemmal glycogen
mildly decreased cytochrome c oxidase activity

Prenatal Manifestations Movement:
decreased fetal movements

Metabolic Features:
lactic acidosis, persistent

Neurologic Central Nervous System:
encephalopathy
gliosis

Abdomen Liver:
steatosis

Cardiovascular Heart:
hypertrophic cardiomyopathy, biventricular
glycogen deposition
markedly decreased cytochrome c oxidase activity

Clinical features from OMIM:

615119

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 2

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

Genetic tests related to Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 2:

# Genetic test Affiliating Genes
1 Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 2 30 COX15

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

MalaCards organs/tissues related to Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 2:

42
Skeletal Muscle

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 2:

76
# Symbol AA change Variation ID SNP ID
1 COX15 p.Arg217Trp VAR_019596 rs28939711

ClinVar genetic disease variations for Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 COX15 NM_004376.6(COX15): c.649C> T (p.Arg217Trp) single nucleotide variant Pathogenic rs28939711 GRCh37 Chromosome 10, 101483814: 101483814
2 COX15 NM_004376.6(COX15): c.649C> T (p.Arg217Trp) single nucleotide variant Pathogenic rs28939711 GRCh38 Chromosome 10, 99724057: 99724057
3 COX15 NM_004376.6(COX15): c.396-3C> G single nucleotide variant Conflicting interpretations of pathogenicity rs200910834 GRCh37 Chromosome 10, 101486914: 101486914
4 COX15 NM_004376.6(COX15): c.396-3C> G single nucleotide variant Conflicting interpretations of pathogenicity rs200910834 GRCh38 Chromosome 10, 99727157: 99727157

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 2.

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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10 dbSNP
11 DGIdb
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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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