Spastic Paraplegia 17 malady
Genetic diseases, Rare diseases, Neuronal diseases, Gastrointestinal diseases, Bone diseases, Metabolic diseases, Eye 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, Gastrointestinal diseases, Bone diseases, Eye diseases, Mental diseases
Rare neurological diseases
Characteristics (Orphanet epidemiological data):48
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide)
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 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.
MalaCards organs/tissues related to Spastic Paraplegia 17:31
Articles related to Spastic Paraplegia 17:
Search GEO for disease gene expression data for Spastic Paraplegia 17.
26ICD10 via Orphanet
34MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet