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GTR Home > Conditions/Phenotypes > Mitochondrial complex 4 deficiency, nuclear type 10

Mitochondrial complex 4 deficiency, nuclear type 10

Synonyms
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10

Summary

Mitochondrial complex IV deficiency nuclear type 10 (MC4DN10) is an autosomal recessive multisystem metabolic disorder characterized by the onset of severe symptoms soon after birth. Affected infants have respiratory and neurologic distress, metabolic lactic acidosis, and dysmorphic features, including microphthalmia. Death occurs in early infancy. Postmortem examination has demonstrated systemic involvement with hepatomegaly, hypertrophic cardiomyopathy, renal hypoplasia, and adrenal hyperplasia. There is also abnormal brain myelination and cavitating brain lesions. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV (summary by Weraarpachai et al., 2012). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110. [from OMIM]

Available tests

8 tests are in the database for this condition.

Clinical tests (8 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C12orf62, MC4DN10, PCAG1, COX14
    Summary: cytochrome c oxidase assembly factor COX14

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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