Spastic Paraplegia 6, Autosomal Dominant (SPG6)

Alias:

Spg6

Hereditary Spastic Paraplegia 6

Autosomal Dominant Spastic Paraplegia Type 6

Fsp3

Autosomal Dominant Familial Spastic Paraplegia Type 3

Familial Spastic Paraplegia, Autosomal Dominant, 3

Familial Spastic Paraplegia Autosomal Dominant 3

Autosomal Dominant Spastic Paraplegia 6

Paraplegia, Spastic, Type 6

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Spastic Paraplegia 6, Autosomal Dominant, also known as spg6, is related to angelman syndrome and spastic paraplegia 3, autosomal dominant, and has symptoms including clonus and urgency of micturition. An important gene associated with Spastic Paraplegia 6, Autosomal Dominant is NIPA1 (NIPA Magnesium Transporter 1), and among its related pathways/superpathways are Prader-Willi and Angelman syndrome and Miscellaneous transport and binding events. Affiliated tissues include skeletal muscle and brain, and related phenotypes are gait disturbance and spastic paraplegia

Related ID：

MALACARDS：SPS127

OMIM：600363

MESH：D015419