Neuropathy, Hereditary Motor and Sensory, Type Via, with Optic Atrophy (HMSN6A)

遗传性运动感觉神经病6A型伴有视神经萎缩(来自ICD-11)

别称:

Peripheral Neuropathy and Optic Atrophy

Charcot-Marie-Tooth Disease Type 6

Hmsn Vi

Cmt6

Neuropathy, Hereditary Motor and Sensory, Type 6a

Hereditary Motor and Sensory Neuropathy Type Vi

Hereditary Motor and Sensory Neuropathy Type 6

Hmsn Via

Hmsn6a

Hmsn6

Cmt6a

Neuropathyneuropathy, Motor and Sensory, Hereditary, with Optic Atrophy, Type6a

Neuropathy, Hereditary Motor and Sensory, 6a, with Optic Atrophy

Hereditary Motor and Sensory Neuropathy with Optic Atrophy

Neuropathy, Hereditary Motor and Sensory, Type Vi

Hereditary Motor and Sensory Neuropathy Type Via

Hereditary Motor and Sensory Neuropathy Via

Hereditary Motor and Sensory Neuropathy Vi

Charcot-Marie-Tooth Disease, Type 6a

Charcot-Marie-Tooth Disease, Type 6

Charcot-Marie-Tooth Disease 6a

Charcot-Marie-Tooth Disease 6

Hmsn 6

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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

遗传性感觉运动性神经病，第Ⅳ型，伴有视神经萎缩，也称为周围神经病和视神经萎缩，与Charcot-Marie-Tooth病2a2a型和先天性脱髓鞘性神经病1型，常染色体隐性遗传有关。与遗传性感觉运动性神经病，第Ⅳ型，伴有视神经萎缩相关的基因是MFN2（融合蛋白2）。相关组织包括大脑和周围神经，相关表型为视神经萎缩和反射减退。

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