Mitochondrial oxidative phosphorylation disorder
MONDO:0016387A multisystem disorder with variable manifestations resulting from a defect in the mitochondrial oxidative phosphorylation (OXPHOS) system.
Also known as: OXPHOS disease, OXPHOS system deficiency
85 clinical trials for this condition and its sub-types.
Follow this condition — get notified about new trialsSub-types
Leber hereditary optic neuropathy
(17)
Leigh syndrome
(7)
Deafness, aminoglycoside-induced
(4)
Kearns-Sayre syndrome
(4)
Mitochondrial respiratory chain complex deficiency
(4)
Autosomal dominant optic atrophy, classic form
(3)
Maternally-inherited diabetes and deafness
(3)
Mitochondrial DNA depletion syndrome
(3)
Mitochondrial DNA depletion syndrome 4a
(3)
Mitochondrial DNA depletion syndrome, myopathic form
(3)
Myopathy, lactic acidosis, and sideroblastic anemia
(3)
Coenzyme Q10 deficiency
(2)
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
(2)
Mitochondrial complex I deficiency
(2)
NARP syndrome
(2)
Pontocerebellar hypoplasia type 6
(2)
Ataxia neuropathy spectrum
(1)
Hereditary spastic paraplegia 7
(1)
Leber plus disease
(1)
Maternally-inherited Leigh syndrome
(1)
Broader categories
Disease
(618)
Metabolic disease
(215)
Hereditary disease
(172)
Inborn mitochondrial metabolism disorder
(57)
Inborn errors of metabolism
(42)
Mitochondrial disease
(39)
Human disease
(14)
Developmental defect during embryogenesis
(7)
Disease of genetic or genomic mechanism
(2)
Inborn disorder of energy metabolism
(1)