cytochrome-c oxidase deficiency disease

Term ID

DOID:3762

Synonyms

MITOCHONDRIAL COMPLEX IV DEFICIENCY

Definition

A mitochondrial metabolism disease that is characterized by deficiency of cytochrome c oxidase, myopathy, hepatomegaly, hypertrophic cardiomyopathy, lactic acidosis, and Leigh syndrome, and is caused by mutations related to oxidative phosphorylation. (3)

References

GARD:48
MESH:D030401
NCI:C98910
OMIM:PS220110
SNOMEDCT_US_2023_03_01:237991006
UMLS_CUI:C0268237

Ontology

Human Disease ( DOID:3762 )

Relationships

is a type of: mitochondrial metabolism disease

mitochondrial metabolism disease Show first 5 Terms
has subtype: COX deficiency, benign infantile mitochondrial myopathy COX deficiency, infantile mitochondrial myopathy French Canadian Leigh disease Leigh disease mitochondrial complex IV deficiency nuclear type 23

COX deficiency, benign infantile mitochondrial myopathy COX deficiency, infantile mitochondrial myopathy French Canadian Leigh disease Leigh disease mitochondrial complex IV deficiency nuclear type 23 Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations