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GTR Home > Conditions/Phenotypes > Mitochondrial complex V (ATP synthase) deficiency nuclear type 2

Mitochondrial complex V (ATP synthase) deficiency nuclear type 2

Synonyms
ENCEPHALOCARDIOMYOPATHY, MITOCHONDRIAL, NEONATAL, DUE TO ATP SYNTHASE DEFICIENCY; MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, TMEM70 TYPE; Nuclear-Encoded ATPase Deficiency, TMEM70-Related; Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Mitochondrial encephalo-cardio-myopathy due to <i>TMEM70</i> mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria. [from ORDO]

Available tests

68 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (68 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MC5DN2, TMEM70
    Summary: transmembrane protein 70

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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