Spastic Paraplegia 17 malady
Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Gastrointestinal diseases, Bone diseases, Metabolic diseases, Mental diseases categories
Aliases & Descriptions for Spastic Paraplegia 17:
MalaCards categories: See all MalaCards categories (disease lists)
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Neuronal diseases, Eye diseases, Gastrointestinal diseases, Bone diseases, Mental diseases
Rare neurological diseases
Characteristics (Orphanet epidemiological data):51
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide)
Genetics Home Reference:23 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 based summary: Spastic Paraplegia 17, also known as silver syndrome, is related to silver-russell syndrome and silver spastic paraplegia syndrome. An important gene associated with Spastic Paraplegia 17 is BSCL2 (Berardinelli-Seip Congenital Lipodystrophy 2 (Seipin)). Affiliated tissues include brain, bone and eye.
MalaCards organs/tissues related to Spastic Paraplegia 17:33
Brain, Bone, Eye
Articles related to Spastic Paraplegia 17:
Search GEO for disease gene expression data for Spastic Paraplegia 17.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet