3-Methylglutaconic Aciduria, Type Iii (MGCA3)

3-Methylglutaconic Aciduria, Type Iii(来自ICD-11)

别称:

Optic Atrophy

3-Methylglutaconic Aciduria Type 3

Costeff Syndrome

Mga3

Costeff Optic Atrophy Syndrome

Infantile Optic Atrophy with Chorea and Spastic Paraplegia

Autosomal Recessive Optic Atrophy Plus Syndrome

Autosomal Recessive Optic Atrophy Type 3

Optic Atrophy Plus Syndrome

3-Methylglutaconic Aciduria Type Iii

Mga, Type Iii

Opa3 Defect

Mgca3

Optic Atrophy, Infantile, with Chorea and Spastic Paraplegia

Opa3-Related 3-Methylglutaconic Aciduria

3-Alpha-Methylglutaconic Aciduria Type 3

Optic Atrophy 3, Autosomal Recessive

Autosomal Recessive Optic Atrophy 3

Optic Atrophy 3 Autosomal Recessive

Iraqi-Jewish 'optic Atrophy Plus'

Iraqi-Jewish Optic Atrophy Plus

Iraqi Jewish Optic Atrophy Plus

3-Methylglutaconic Aciduria 3

Second Cranial Nerve Atrophy

Second Cranium Nerve Atrophy

Opa3, Autosomal Recessive

Autosomal Recessive Opa3

Primary Optic Atrophy

Atrophy of Optic Disc

Oa - [optic Atrophy]

Optic Nerve Atrophy

Atrophy, Optic

Mga Type Iii

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

3-Methylglutaconic Aciduria, Type Iii, also known as optic atrophy, is related to leber hereditary optic neuropathy, modifier of and optic atrophy 7 with or without auditory neuropathy, and has symptoms including ataxia, muscle spasticity and abnormality of extrapyramidal motor function. An important gene associated with 3-Methylglutaconic Aciduria, Type Iii is OPA3 (Outer Mitochondrial Membrane Lipid Metabolism Regulator OPA3), and among its related pathways/superpathways is Mitochondrial calcium ion transport. The drugs Idebenone and Protective Agents have been mentioned in the context of this disorder. Affiliated tissues include eye and retina, and related phenotypes are visual impairment and choreoathetosis

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