MCID: CRD158
MIFTS: 17

Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 2

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 2:

Name: Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 2 57 75 29 13 6 73
Cemcox2 57 75
Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
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 : 75 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 (COX15, Cytochrome C Oxidase Assembly Homolog). Affiliated tissues include skeletal muscle, and related phenotypes are microcephaly and generalized hypotonia

Description from OMIM: 615119

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
Head And Neck Head:
microcephaly

Abdomen Liver:
steatosis

Neurologic Central Nervous System:
encephalopathy
gliosis

Prenatal Manifestations Movement:
decreased fetal movements

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

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

Metabolic Features:
lactic acidosis, persistent


Clinical features from OMIM:

615119

Human phenotypes related to Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 2:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 generalized hypotonia 32 HP:0001290
3 encephalopathy 32 HP:0001298
4 hepatic steatosis 32 HP:0001397
5 decreased fetal movement 32 HP:0001558
6 gliosis 32 HP:0002171

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 29 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:

41
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:

75
# 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 COX15, IVS3, C-G, -3 single nucleotide variant Pathogenic

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
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
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