Spastic Paraplegia 17, Autosomal Dominant (SPG17)

Alias:

Silver Syndrome

Spg17

Silver Spastic Paraplegia Syndrome

Spastic Paraplegia with Amyotrophy of Hands and Feet

Hereditary Spastic Paraplegia 17

Spastic Paraplegia-Amyotrophy of Hands and Feet

Autosomal Dominant Spastic Paraplegia Type 17

Spastic Paraplegia 17

Paraplegia, Spastic, Autosomal Dominant, Type 17

Neuronopathy, Distal Hereditary Motor, Type Vb

Distal Hereditary Motor Neuropathy Type 5b

Autosomal Dominant Spastic Paraplegia 17

Russell-Silver Syndrome

Dhmn5b

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Spastic Paraplegia 17, Autosomal Dominant, also known as silver syndrome, is related to silver-russell syndrome 1 and neuronopathy, distal hereditary motor, autosomal dominant 13. An important gene associated with Spastic Paraplegia 17, Autosomal Dominant is BSCL2 (BSCL2 Lipid Droplet Biogenesis Associated, Seipin). Affiliated tissues include brain and spinal cord, and related phenotypes are hyperreflexia and babinski sign

Related ID：

MALACARDS：SPS219

OMIM：270685

MESH：D010264