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GTR Home > Conditions/Phenotypes > Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4

Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4

Synonyms
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 13

Summary

Mitochondrial complex IV deficiency nuclear type 13 (MC4DN13) is an autosomal recessive metabolic disorder characterized by the onset of hypertrophic cardiomyopathy soon after birth. Affected individuals have hypotonia, weakness, and failure to thrive, resulting in death in infancy. Laboratory studies show increased serum lactate and decreased levels and activity of mitochondrial respiratory complex IV (summary by Baertling et al., 2015). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110. [from OMIM]

Available tests

15 tests are in the database for this condition.

Clinical tests (15 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C1orf31, CEMCOX4, MC4DN13, COA6
    Summary: cytochrome c oxidase assembly factor 6

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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