Spastic Paraplegia 78, Autosomal Recessive (SPG78)

Alias:

Spg78

Autosomal Recessive Spastic Paraplegia Type 78

Hereditary Spastic Paraplegia 78

Spastic Paraplegia 78 Autosomal Recessive

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Spastic Paraplegia 78, Autosomal Recessive, also known as spg78, is related to kufor-rakeb syndrome and spastic paraparesis. An important gene associated with Spastic Paraplegia 78, Autosomal Recessive is ATP13A2 (ATPase Cation Transporting 13A2), and among its related pathways/superpathways is Metabolic disorders of biological oxidation enzymes. Affiliated tissues include brain and skeletal muscle, and related phenotypes are hyperreflexia and dysarthria

Related ID：

MALACARDS：SPS203

OMIM：617225

MESH：D015419