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GTR Home > Conditions/Phenotypes > Mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6

Mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6

Synonyms
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6

Summary

Mitochondrial complex V (ATP synthase) deficiency nuclear type 6 (MC5DN6) is an autosomal recessive progressive and degenerative disorder characterized by episodic regression of gross motor skills beginning in early childhood. The episodes are associated with metabolic stress, including fever, illness, and general anesthesia. Patients develop gait difficulties or loss of ambulation, as well as other variable abnormalities, including abnormal movements, hemiplegia, and persistent lethargy. Brain imaging shows degenerative features in the basal ganglia and brainstem consistent with a diagnosis of Leigh syndrome (see 256000) (summary by Barca et al., 2018). For a discussion of genetic heterogeneity of mitochondrial complex V deficiency, see MC5DN1 (604273). [from OMIM]

Available tests

2 tests are in the database for this condition.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AGP, ATP5MD, DAPIT, HCVFTP2, MC5DN6, USMG5, bA792D24.4, ATP5MK
    Summary: ATP synthase membrane subunit k

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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