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Concept information

Nutritional and Metabolic Diseases > Metabolic Diseases > Mitochondrial Diseases > Optic Atrophy, Autosomal Dominant
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Eye Diseases, Hereditary > Optic Atrophies, Hereditary > Optic Atrophy, Autosomal Dominant
Eye Diseases > Eye Diseases, Hereditary > Optic Atrophies, Hereditary > Optic Atrophy, Autosomal Dominant
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Heredodegenerative Disorders, Nervous System > Optic Atrophies, Hereditary > Optic Atrophy, Autosomal Dominant
Nervous System Diseases > Neurodegenerative Diseases > Heredodegenerative Disorders, Nervous System > Optic Atrophies, Hereditary > Optic Atrophy, Autosomal Dominant
... > Nervous System Diseases > Cranial Nerve Diseases > Optic Nerve Diseases > Optic Atrophy > Optic Atrophies, Hereditary > Optic Atrophy, Autosomal Dominant
Eye Diseases > Optic Nerve Diseases > Optic Atrophy > Optic Atrophies, Hereditary > Optic Atrophy, Autosomal Dominant

Terme préférentiel

Optic Atrophy, Autosomal Dominant  

Type

  • mesh:Descriptor

Définition

  • Dominant optic atrophy is a hereditary optic neuropathy causing decreased visual acuity, color vision deficits, a centrocecal scotoma, and optic nerve pallor (Hum. Genet. 1998; 102: 79-86). Mutations leading to this condition have been mapped to the OPA1 gene at chromosome 3q28-q29. OPA1 codes for a dynamin-related GTPase that localizes to mitochondria.

Concept générique

Synonyme(s)

  • Autosomal Dominant Optic Atrophy
  • Autosomal Dominant Optic Atrophy Kjer Type
  • Dominant Optic Atrophy
  • Kjer's Optic Atrophy
  • Kjer Type Optic Atrophy
  • Kjer-Type Optic Atrophy
  • Optic Atrophy 1
  • Optic Atrophy, Hereditary, Autosomal Dominant
  • Optic Atrophy, Juvenile
  • Optic Atrophy, Kjer Type
  • Optic Atrophy Type 1

Qualificatif(s) autorisé(s)

Traductions

  • Atrophie optique autosomique dominante

    français

  • Atrophie du nerf optique autosomique dominante
  • Atrophie optique dominante
  • Atrophie optique dominante de Kjer
  • Atrophie optique dominante de type 1
  • Atrophie optique dominante de type I
  • Maladie de Kjer

URI

http://data.loterre.fr/ark:/67375/JVR-TRH09QKJ-0

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RDF/XML TURTLE JSON-LD Date de création 25/07/2001, dernière modification le 08/07/2013