Gene Role Disease OMIM Descriptions Sources
DNA2 causing PEOA6 615156 The disease is caused by mutations affecting the gene represented in this entry. A disorder characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance, and mitochondrial DNA deletions on muscle biopsy. Symptoms may appear in childhood or adulthood and show slow progression. [read more] 23352259
DNM1L May be associated with Alzheimer disease through beta-amyloid-induced increased S-nitrosylation of DNM1L, which triggers, directly or indirectly, excessive mitochondrial fission, synaptic loss and neuronal damage. [read more] 19342591
DNM1L causing EMPF 614388 The disease is caused by mutations affecting the gene represented in this entry. A rare autosomal dominant systemic disorder resulting in lack of neurologic development and death in infancy. After birth, infants present in the first week of life with poor feeding and neurologic impairment, including hypotonia, little spontaneous movement, no tendon reflexes, no response to light stimulation, and poor visual fixation. Other features include mildly elevated plasma concentration of very-long-chain fatty acids, lactic acidosis, microcephaly, deep-set eyes, optic atrophy and hypoplasia, and an abnormal gyral pattern in both frontal lobes associated with dysmyelination. [read more] 17460227
19342591
EARS2 causing COXPD12 614924 The disease is caused by mutations affecting the gene represented in this entry. An autosomal recessive, mitochondrial, neurologic disorder characterized by onset in infancy of hypotonia and delayed psychomotor development, or early developmental regression, associated with T2-weighted hyperintensities in the deep cerebral white matter, brainstem, and cerebellar white matter. Serum lactate is increased due to a defect in mitochondrial respiration. There are 2 main phenotypic groups: those with a milder disease course and some recovery of skills after age 2 years, and those with a severe disease course resulting in marked disability. [read more] 22492562
23008233
FARS2 causing COXPD14 614946 The disease is caused by mutations affecting the gene represented in this entry. A severe multisystemic autosomal recessive disorder characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis. Biochemical studies show deficiencies of multiple mitochondrial respiratory enzymes. [read more] 22833457
22499341
FOXRED1 causing MT-C1D 252010 The disease is caused by mutations affecting the gene represented in this entry. A disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. [read more] 20818383
GFER causing MPMCHD 613076 The disease is caused by mutations affecting the gene represented in this entry. A disease characterized by progressive myopathy and partial combined respiratory-chain deficiency, congenital cataract, sensorineural hearing loss, and developmental delay. [read more] 20593814
19409522
GFM1 causing COXPD1 609060 The disease is caused by mutations affecting the gene represented in this entry. A mitochondrial disease resulting in early rapidly progressive hepatoencephalopathy. [read more] 15537906
17160893
GYG1 causing GSD15 613507 The disease is caused by mutations affecting the gene represented in this entry. A metabolic disorder resulting in muscle weakness, associated with the glycogen depletion in skeletal muscle, and cardiac arrhythmia, associated with the accumulation of abnormal storage material in the heart. The skeletal muscle shows a marked predominance of slow-twitch, oxidative muscle fibers and mitochondrial proliferation. [read more] 20357282
IBA57 causing MMDS3 615330 The disease is caused by mutations affecting the gene represented in this entry. A severe disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, hyperglycinemia and early death. Some patients show failure to thrive, pulmonary hypertension, hypotonia and irritability. Biochemical features include severe combined deficiency of the 2-oxoacid dehydrogenases, defective lipoic acid synthesis and reduction in activity of mitochondrial respiratory chain complexes. [read more] 23462291