Gyrate Atrophy of Choroid and Retina (GACR)

Alias:
Ornithine Aminotransferase Deficiency
Gyrate Atrophy
Hyperornithinemia
Hoga
Hyperornithinemia with Gyrate Atrophy of Choroid and Retina
Ornithine Keto Acid Aminotransferase Deficiency
Ornithine-Delta-Aminotransferase Deficiency
Oat Deficiency
Okt Deficiency
Gyrate Atrophy of Choroid and Retina with or Without Ornithinemia
Hyperornithinemia-Gyrate Atrophy of Choroid and Retina Syndrome
Gyrate Atrophy of the Choroid and Retina
Ornithinemia with Gyrate Atrophy
Gyrate Atrophy of the Retina
Gacr
Fuchs Atrophia Gyrata Chorioideae Et Retinae
Gyrate Atrophy of the Choroid and/or Retina
Atrophy, Gyrate, of Choroid and Retina
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Gyrate Atrophy of Choroid and Retina, also known as ornithine aminotransferase deficiency, is related to macular retinal edema and ornithinemia. An important gene associated with Gyrate Atrophy of Choroid and Retina is OAT (Ornithine Aminotransferase), and among its related pathways/superpathways are Visual phototransduction and Visual Cycle in Retinal Rods. The drugs Ornithine and Arginine have been mentioned in the context of this disorder. Affiliated tissues include retina and eye, and related phenotypes are progressive visual loss and myopia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
--
31
228
76

Medical Symptom

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Description
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Gene & Mutation

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Disease Model

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MGI
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References Literature

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