Spastic Paraplegia 17 (SPG17) malady

Genetics Home Reference:²¹ Silver syndrome belongs to a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and, frequently, development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. Both types involve the lower limbs; the complex types may also involve the upper limbs, although to a lesser degree. In addition, the complex types may affect the brain and parts of the nervous system involved in muscle movement and sensations. Silver syndrome is a complex hereditary spastic paraplegia.

MalaCards: Spastic Paraplegia 17, also known as silver syndrome, is related to silver-russell syndrome and partington syndrome. An important gene associated with Spastic Paraplegia 17 is BSCL2 (Berardinelli-Seip congenital lipodystrophy 2 (seipin)). Affiliated tissues include brain.

Description from OMIM:⁴⁷ 270685

External Ids:

OMIM47 270685

ICD10 via Orphanet26 G11.4

Clinical features from OMIM:

270685

Clinical synopsis from OMIM:

270685

Search GEO for disease gene expression data for Spastic Paraplegia 17.