Disease: Spastic paraplegia 17 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Spastic paraplegia 17
CUI: C2931276
Disease: Spastic paraplegia 17
0.830 GeneticVariation BEFREE We report a Chinese family carrying the S90L mutation with Silver syndrome and discuss our literature review of the clinical phenotypes of S90L. 25487175 2015
Spastic paraplegia 17
CUI: C2931276
Disease: Spastic paraplegia 17
0.830 GeneticVariation UNIPROT Application of whole exome sequencing in undiagnosed inherited polyneuropathies. 24604904 2014
Spastic paraplegia 17
CUI: C2931276
Disease: Spastic paraplegia 17
0.830 GeneticVariation UNIPROT Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17. 18585921 2008
Spastic paraplegia 17
CUI: C2931276
Disease: Spastic paraplegia 17
0.830 GeneticVariation UNIPROT Four patients diagnosed with dHMN-V or SS carried known heterozygous BSCL2 mutations (N88S and S90L). 17663003 2007
Spastic paraplegia 17
CUI: C2931276
Disease: Spastic paraplegia 17
0.830 GeneticVariation BEFREE The clinical patterns in this family include presentation with lower-limb and hand-muscle involvement early in the disease course as well as the presence of Babinski signs with nonprogressive mild spastic paraparesis, resembling classic Silver syndrome and dHMN type V. This study reaffirms the clinical phenotype of the disorders associated with a BSCL2 Ser90Leu mutation and describes a genetically proven family with Silver syndrome and dHMN type V in Asia. 17486577 2007
Spastic paraplegia 17
CUI: C2931276
Disease: Spastic paraplegia 17
0.830 GeneticVariation BEFREE Four patients diagnosed with dHMN-V or SS carried known heterozygous BSCL2 mutations (N88S and S90L). 17663003 2007
Spastic paraplegia 17
CUI: C2931276
Disease: Spastic paraplegia 17
0.830 GeneticVariation UNIPROT Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. 14981520 2004
Spastic paraplegia 17
CUI: C2931276
Disease: Spastic paraplegia 17
0.830 CausalMutation CLINVAR
Spastic paraplegia 17
CUI: C2931276
Disease: Spastic paraplegia 17
0.830 GeneticVariation CLINVAR