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DeCS
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Descriptor Inglés:
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Optic Atrophy, Hereditary, Leber
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Descriptor Español:
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Atrofia Óptica Hereditaria de Leber
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Descriptor Portugués:
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Atrofia Óptica Hereditária de Leber
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Sinónimos Inglés:
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Leber Hereditary Optic Atrophy
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Categoría:
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C10.292.700.225.500.400
C10.574.500.662.400
C11.270.564.400
C11.640.451.451.400
C16.320.290.564.400
C16.320.400.630.400
C18.452.660.670
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Definición Inglés:
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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)) |
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Nota Histórica Inglés:
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2002; use OPTIC ATROPHIES, HEREDITARY 1999-2001
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Calificadores Permitidos Inglés:
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Número del Registro:
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36011
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Identificador Único:
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D029242
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Ocurrencia en la BVS:
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Similar:
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DeCS CID-10 SciELO LILACS LIS
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