Silver Spastic Paraplegia Syndrome malady
Categories: Genetic diseases, Neuronal diseases, Rare diseases
Aliases & Descriptions for Silver Spastic Paraplegia Syndrome:
Orphanet epidemiological data:53
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases
Rare neurological diseases
UniProtKB/Swiss-Prot:69 Spastic paraplegia 17, autosomal dominant: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG17 is characterized by prominent amyotrophy of the hand muscles, the presence of mild to severe pyramidal tract signs and spastic paraplegia. SPG17 is a motor neuron disease overlapping with distal spinal muscular atrophy type 5.
MalaCards based summary: Silver Spastic Paraplegia Syndrome, also known as spastic paraplegia 17, autosomal dominant, is related to der kaloustian mcintosh silver syndrome and chromosome 11p15.5-related russell-silver syndrome, and has symptoms including spastic paraplegia, hyperreflexia and pes cavus. An important gene associated with Silver Spastic Paraplegia Syndrome is BSCL2 (BSCL2, Seipin Lipid Droplet Biogenesis Associated). Affiliated tissues include brain.
Genetics Home Reference:25 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.
Description from OMIM:51 270685
Diseases related to Silver Spastic Paraplegia Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of diseases related to Silver Spastic Paraplegia Syndrome:
Human phenotypes related to Silver Spastic Paraplegia Syndrome:63 (show all 12)
UMLS symptoms related to Silver Spastic Paraplegia Syndrome:weakness of lower limb
Genetic tests related to Silver Spastic Paraplegia Syndrome:
MalaCards organs/tissues related to Silver Spastic Paraplegia Syndrome:35
UniProtKB/Swiss-Prot genetic disease variations for Silver Spastic Paraplegia Syndrome:69
Clinvar genetic disease variations for Silver Spastic Paraplegia Syndrome:5
Search GEO for disease gene expression data for Silver Spastic Paraplegia Syndrome.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet