SPART, spartin, 23111

N. diseases: 110; N. variants: 6
Disease: Troyer syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0393559
Disease: Troyer syndrome
Troyer syndrome 		0.800 GeneticVariation disease BEFREE In summary, this is the first report of Troyer syndrome in a family caused by SPG20 compound heterozygous mutations. 31535723 2020
CUI: C0393559
Disease: Troyer syndrome
Troyer syndrome 		0.800 GeneticVariation disease BEFREE Novel SPG20 mutation in an extended family with Troyer syndrome. 28875386 2017
CUI: C0393559
Disease: Troyer syndrome
Troyer syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND SPG20 mutation in three siblings with familial hereditary spastic paraplegia. 28679690 2017
CUI: C0393559
Disease: Troyer syndrome
Troyer syndrome 		0.800 GeneticVariation disease UNIPROT Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency. 27539578 2017
CUI: C0393559
Disease: Troyer syndrome
Troyer syndrome 		0.800 GeneticVariation disease UNIPROT Novel SPG20 mutation in an extended family with Troyer syndrome. 28875386 2017
CUI: C0393559
Disease: Troyer syndrome
Troyer syndrome 		0.800 GeneticVariation disease BEFREE Troyer syndrome is a complex hereditary spastic paraplegia (HSP) due to a mutation in SPG20 first reported in the Old Amish population. 27112432 2016
CUI: C0393559
Disease: Troyer syndrome
Troyer syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND Troyer syndrome is a complex hereditary spastic paraplegia (HSP) due to a mutation in SPG20 first reported in the Old Amish population. 27112432 2016
CUI: C0393559
Disease: Troyer syndrome
Troyer syndrome 		0.800 GeneticVariation disease BEFREE Mutations in the SPG20 gene encoding spartin cause an autosomal recessive hereditary spastic paraplegia known as Troyer syndrome. 25821002 2015
CUI: C0393559
Disease: Troyer syndrome
Troyer syndrome 		0.800 GeneticVariation disease BEFREE Recurrent null mutation in SPG20 leads to Troyer syndrome. 26003402 2015
CUI: C0393559
Disease: Troyer syndrome
Troyer syndrome 		0.800 GeneticVariation disease BEFREE Troyer syndrome is an autosomal recessive hereditary spastic paraplegia (HSP) caused by frameshift mutations in the SPG20 gene that results in a lack of expression of the truncated protein. 24523286 2014
CUI: C0393559
Disease: Troyer syndrome
Troyer syndrome 		0.800 Biomarker disease BEFREE Together, these results demonstrate that Spartin regulates both synaptic development and neuronal survival by controlling microtubule stability via the BMP-dFMRP-Futsch pathway, suggesting that impaired regulation of microtubule stability is a core pathogenic component in Troyer syndrome. 23439121 2013
CUI: C0393559
Disease: Troyer syndrome
Troyer syndrome 		0.800 GeneticVariation disease BEFREE Loss-of-function mutations in the SPG20 gene encoding spartin cause autosomal recessive Troyer syndrome (SPG20), which has additional features of short stature, cognitive deficits and distal amyotrophy. 22619377 2012
CUI: C0393559
Disease: Troyer syndrome
Troyer syndrome 		0.800 GermlineCausalMutation disease ORPHANET Null mutations in SPG20 cause Troyer syndrome, a specific clinical entity with developmental and degenerative features. 20437587 2010
CUI: C0393559
Disease: Troyer syndrome
Troyer syndrome 		0.800 CausalMutation disease CLINVAR Null mutations in SPG20 cause Troyer syndrome, a specific clinical entity with developmental and degenerative features. 20437587 2010
CUI: C0393559
Disease: Troyer syndrome
Troyer syndrome 		0.800 GeneticVariation disease BEFREE Null mutations in SPG20 cause Troyer syndrome, a specific clinical entity with developmental and degenerative features. 20437587 2010
CUI: C0393559
Disease: Troyer syndrome
Troyer syndrome 		0.800 Biomarker disease BEFREE These experiments suggest functions for ubiquitin ligases and SPG20 in the regulation of LD turnover and potential pathological mechanisms in Troyer syndrome. 19307600 2009
CUI: C0393559
Disease: Troyer syndrome
Troyer syndrome 		0.800 Biomarker disease BEFREE To determine whether the truncated spartin protein is present or absent in cells derived from patients with Troyer syndrome. 18413476 2008
CUI: C0393559
Disease: Troyer syndrome
Troyer syndrome 		0.800 GeneticVariation disease BEFREE Affected subjects resembled those with OPIDN and those with Troyer Syndrome due to SPG20/spartin gene mutation (excluded by genetic linkage and SPG20/spartin sequence analysis). 18313024 2008
CUI: C0393559
Disease: Troyer syndrome
Troyer syndrome 		0.800 Biomarker disease BEFREE Taken together, our data suggest that spartin is involved in the intracellular trafficking of EGFR and that impaired endocytosis may underlie the pathogenesis of Troyer syndrome. 17332501 2007
CUI: C0393559
Disease: Troyer syndrome
Troyer syndrome 		0.800 GeneticVariation disease BEFREE SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. 12134148 2002
CUI: C0393559
Disease: Troyer syndrome
Troyer syndrome 		0.800 GeneticVariation disease UNIPROT We report mapping of the TRS locus to chromosome 13q12.3 and identify a frameshift mutation in SPG20, encoding spartin. 12134148 2002
CUI: C0393559
Disease: Troyer syndrome
Troyer syndrome 		0.800 GermlineCausalMutation disease ORPHANET We report mapping of the TRS locus to chromosome 13q12.3 and identify a frameshift mutation in SPG20, encoding spartin. 12134148 2002
CUI: C0393559
Disease: Troyer syndrome
Troyer syndrome 		0.800 Biomarker disease CTD_human