Spastic Paraplegia 50, Autosomal Recessive (SPG50)

Alias:

Hereditary Spastic Paraplegia 50

Ap-4 Deficiency Syndrome

Spg50

Ap-4-Associated Hereditary Spastic Paraplegia

Adaptor Protein Complex 4 Deficiency

Cerebral Palsy, Spastic Quadriplegic, 3, Formerly

Paraplegia, Spastic, Autosomal Recessive, Type 50

Spastic Paraplegia-50, Autosomal Recessive

Autosomal Recessive Spastic Paraplegia 50

Ap-4-Associated Hsp

Cpsq3, Formerly

Ap-4 Deficiency

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Spastic Paraplegia 50, Autosomal Recessive, also known as hereditary spastic paraplegia 50, is related to severe intellectual disability and progressive spastic paraplegia and spastic paraplegia 47, autosomal recessive, and has symptoms including seizures and pseudobulbar signs. An important gene associated with Spastic Paraplegia 50, Autosomal Recessive is AP4M1 (Adaptor Related Protein Complex 4 Subunit Mu 1), and among its related pathways/superpathways are Vesicle-mediated transport and trans-Golgi Network Vesicle Budding. Affiliated tissues include brain, and related phenotypes are hyperreflexia and hypotonia

Related ID：

MALACARDS：SPS103

OMIM：612936

MESH：D015419