DISEASES Nervous System Diseases [C10] Nervous System Diseases Cranial Nerve Diseases [C10.292] Cranial Nerve Diseases Optic Nerve Diseases [C10.292.700] Optic Nerve Diseases Optic Atrophy [C10.292.700.225] Optic Atrophy Optic Atrophies, Hereditary [C10.292.700.225.500] Optic Atrophies, Hereditary Optic Atrophy, Autosomal Dominant [C10.292.700.225.500.100] Optic Atrophy, Autosomal Dominant Optic Atrophy, Hereditary, Leber [C10.292.700.225.500.400] Optic Atrophy, Hereditary, Leber Wolfram Syndrome [C10.292.700.225.500.980] Wolfram Syndrome DISEASES Nervous System Diseases [C10] Nervous System Diseases Neurodegenerative Diseases [C10.574] Neurodegenerative Diseases Heredodegenerative Disorders, Nervous System [C10.574.500] Heredodegenerative Disorders, Nervous System Optic Atrophies, Hereditary [C10.574.500.662] Optic Atrophies, Hereditary Optic Atrophy, Autosomal Dominant [C10.574.500.662.100] Optic Atrophy, Autosomal Dominant Optic Atrophy, Hereditary, Leber [C10.574.500.662.400] Optic Atrophy, Hereditary, Leber Wolfram Syndrome [C10.574.500.662.980] Wolfram Syndrome DISEASES Eye Diseases [C11] Eye Diseases Eye Diseases, Hereditary [C11.270] Eye Diseases, Hereditary Optic Atrophies, Hereditary [C11.270.564] Optic Atrophies, Hereditary Optic Atrophy, Autosomal Dominant [C11.270.564.100] Optic Atrophy, Autosomal Dominant Optic Atrophy, Hereditary, Leber [C11.270.564.400] Optic Atrophy, Hereditary, Leber Wolfram Syndrome [C11.270.564.980] Wolfram Syndrome DISEASES Eye Diseases [C11] Eye Diseases Optic Nerve Diseases [C11.640] Optic Nerve Diseases Optic Atrophy [C11.640.451] Optic Atrophy Optic Atrophies, Hereditary [C11.640.451.451] Optic Atrophies, Hereditary Optic Atrophy, Autosomal Dominant [C11.640.451.451.100] Optic Atrophy, Autosomal Dominant Optic Atrophy, Hereditary, Leber [C11.640.451.451.400] Optic Atrophy, Hereditary, Leber Wolfram Syndrome [C11.640.451.451.980] Wolfram Syndrome DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn [C16.320] Genetic Diseases, Inborn Eye Diseases, Hereditary [C16.320.290] Eye Diseases, Hereditary Optic Atrophies, Hereditary [C16.320.290.564] Optic Atrophies, Hereditary Optic Atrophy, Autosomal Dominant [C16.320.290.564.100] Optic Atrophy, Autosomal Dominant Optic Atrophy, Hereditary, Leber [C16.320.290.564.400] Optic Atrophy, Hereditary, Leber Wolfram Syndrome [C16.320.290.564.980] Wolfram Syndrome DISEASES Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn [C16.320] Genetic Diseases, Inborn Heredodegenerative Disorders, Nervous System [C16.320.400] Heredodegenerative Disorders, Nervous System Optic Atrophies, Hereditary [C16.320.400.630] Optic Atrophies, Hereditary Optic Atrophy, Autosomal Dominant [C16.320.400.630.100] Optic Atrophy, Autosomal Dominant Optic Atrophy, Hereditary, Leber [C16.320.400.630.400] Optic Atrophy, Hereditary, Leber Wolfram Syndrome [C16.320.400.630.980] Wolfram Syndrome DISEASES Nutritional and Metabolic Diseases [C18] Nutritional and Metabolic Diseases Metabolic Diseases [C18.452] Metabolic Diseases Mitochondrial Diseases [C18.452.660] Mitochondrial Diseases Carbamoyl-Phosphate Synthase I Deficiency Disease [C18.452.660.097] Carbamoyl-Phosphate Synthase I Deficiency Disease Cytochrome-c Oxidase Deficiency [C18.452.660.195] Cytochrome-c Oxidase Deficiency Friedreich Ataxia [C18.452.660.300] Friedreich Ataxia Leigh Disease [C18.452.660.520] Leigh Disease Mitochondrial Myopathies [C18.452.660.560] Mitochondrial Myopathies Multiple Acyl Coenzyme A Dehydrogenase Deficiency [C18.452.660.612] Multiple Acyl Coenzyme A Dehydrogenase Deficiency Optic Atrophy, Autosomal Dominant [C18.452.660.665] Optic Atrophy, Autosomal Dominant Optic Atrophy, Hereditary, Leber [C18.452.660.670] Optic Atrophy, Hereditary, Leber Pyruvate Carboxylase Deficiency Disease [C18.452.660.705] Pyruvate Carboxylase Deficiency Disease Pyruvate Dehydrogenase Complex Deficiency Disease [C18.452.660.710] Pyruvate Dehydrogenase Complex Deficiency Disease

Optic Atrophy, Hereditary, Leber - Preferred

Concept UI	M0333667
Scope note	A maternally linked genetic disorder that presents in mid-life as acute or subacute central vision loss leading to central scotoma and blindness. The disease has been associated with missense mutations in the mtDNA, in genes for Complex I, III, and IV polypeptides, that can act autonomously or in association with each other to cause the disease. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim/, MIM#535000 (April 17, 2001))
Preferred term	Optic Atrophy, Hereditary, Leber
Entry term(s)	Disease, Leber's Diseases, Leber's Hereditary Optic Neuroretinopathies Hereditary Optic Neuroretinopathy Leber Disease Leber Hereditary Optic Atrophy Leber Hereditary Optic Neuropathy Leber Optic Atrophy Leber Optic Atrophy and Dystonia Leber Optic Neuropathy Leber's Disease Leber's Diseases Leber's Hereditary Optic Atrophy Leber's Hereditary Optic Neuropathy Leber's Optic Atrophy Leber's Optic Neuropathy Lebers Disease Lebers Optic Neuropathy Neuropathy, Leber's Optic Neuroretinopathies, Hereditary Optic Neuroretinopathy, Hereditary Optic Optic Atrophy, Leber Optic Atrophy, Leber Type Optic Atrophy, Leber, Hereditary Optic Neuropathy, Leber's Optic Neuroretinopathies, Hereditary Optic Neuroretinopathy, Hereditary