3-Methylglutaconic Aciduria, Type Iii (MGCA3)

3-甲基戊二酰酸尿症3型(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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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

3-甲基戊二酸尿症，III型，也称为视神经萎缩，与Leber遗传性视神经病变，修饰和视神经萎缩7，伴有或不伴有听神经病变有关，其症状包括共济失调，肌肉痉挛和外锥体运动功能异常。与3-甲基戊二酸尿症，III型有关的重要基因是OPA3（外线粒体膜脂质代谢调节因子OPA3），其相关通路/超通路包括线粒体钙离子转运。在该疾病的背景下，Idebenone和保护剂已被提及。附属组织包括眼睛和视网膜，相关表型为视觉障碍和舞蹈病。

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