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

Alias:

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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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Neuropathy, Hereditary Motor and Sensory, Type Via, with Optic Atrophy, also known as peripheral neuropathy and optic atrophy, is related to charcot-marie-tooth disease type 2a2a and neuropathy, congenital hypomyelinating, 1, autosomal recessive. An important gene associated with Neuropathy, Hereditary Motor and Sensory, Type Via, with Optic Atrophy is MFN2 (Mitofusin 2). Affiliated tissues include brain and peripheral nerve, and related phenotypes are optic atrophy and hyporeflexia

Related ID：

MALACARDS：NRP066

OMIM：601152

MESH：D002607