| Disease Associations |
Leber hereditary optic neuropathy (LHON) [MIM:535000]: A maternally inherited disease resulting in acute or subacute loss of central vision, due to optic nerve dysfunction. Cardiac conduction defects and neurological defects have also been described in some patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes. {ECO:0000269PubMed:16240359, ECO:0000269PubMed:1732158, ECO:0000269PubMed:1900003, ECO:0000269PubMed:8213825}. Note=The disease is caused by mutations affecting the gene represented in this entry.Leigh syndrome (LS) [MIM:256000]: An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. {ECO:0000269PubMed:11938446, ECO:0000269PubMed:12796552, ECO:0000269PubMed:17400793}. Note=The disease is caused by mutations affecting the gene represented in this entry.Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]: 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. {ECO:0000269PubMed:20818383}. Note=The disease is caused by mutations affecting the gene represented in this entry.Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000]: Genetically heterogeneous disorder, characterized by episodic vomiting, seizures, and recurrent cerebral insults resembling strokes and causing hemiparesis, hemianopsia, or cortical blindness. {ECO:0000269PubMed:12509858, ECO:0000269PubMed:15767514, ECO:0000269PubMed:17400793, ECO:0000269PubMed:9299505}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Version 5.4
