mitochondrial oxidative phosphorylation disorder

Findings

No curated finding names mitochondrial oxidative phosphorylation disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• inborn mitochondrial metabolism disorder

Narrower terms (48)

• acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
• adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
• ataxia neuropathy spectrum
• autosomal dominant mitochondrial myopathy with exercise intolerance
• autosomal dominant optic atrophy and peripheral neuropathy
• autosomal dominant optic atrophy, classic form
• autosomal recessive optic atrophy, OPA7 type
• cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
• Charcot-Marie-Tooth disease recessive intermediate D
• Charcot-Marie-Tooth disease type 4K
• chronic diarrhea with villous atrophy
• coenzyme Q10 deficiency
• combined oxidative phosphorylation deficiency
• congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
• deafness, aminoglycoside-induced
• encephalopathy due to mitochondrial and peroxisomal fission defect
• FASTKD2-related infantile mitochondrial encephalomyopathy

Resolves to: mitochondrial oxidative phosphorylation disorder

Also called

OXPHOS diseaseOXPHOS system deficiency