TOR1A, torsin family 1 member A, 1861

N. diseases: 115; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4316810
Disease: Writer's Cramp
Writer's Cramp
0.500 GeneticVariation disease BEFREE Our meta-analysis revealed a significant implication of rs1182 and rs1801968 TOR1A variants in the development of focal dystonia and writer's cramp respectively. 28081261 2017
CUI: C4316810
Disease: Writer's Cramp
Writer's Cramp
0.500 Biomarker disease CTD_human Mutations in GNAL cause primary torsion dystonia. 23222958 2013
CUI: C4316810
Disease: Writer's Cramp
Writer's Cramp
0.500 GeneticVariation disease BEFREE We investigated whether writer's cramp as presenting symptom is associated with mutations in DYT11, DYT16, or with the DYT1 GAG deletion in 43 patients. 19441135 2009
CUI: C4316810
Disease: Writer's Cramp
Writer's Cramp
0.500 Biomarker disease BEFREE The following groups of patients were included in the study: 1) patients with early-onset (<30 years) generalized dystonia and those patients with onset after age 30 years who have relatives with early-onset dystonia, 2) patients with writer's cramp (focal or as part of segmental dystonia) independently of age of onset, 3) asymptomatic (adult only) relatives of the diagnosed DYT1 carriers. 18224570 2008
CUI: C4316810
Disease: Writer's Cramp
Writer's Cramp
0.500 GeneticVariation disease BEFREE Writer's cramp in an Australian pedigree with DYT1 dystonia. 15177405 2004
CUI: C4316810
Disease: Writer's Cramp
Writer's Cramp
0.500 GeneticVariation disease BEFREE Analysis of 83 published series including 5,057 patients indicated significant differences in the mean age at onset of five phenotypes of PTD (mean age at onset; 95% CI): DYT1 dystonia (11.3 years; 10.3 to 12.2), writer's cramp (38.4; 36.9 to 39.9), CD (40.8; 40.3 to 41.3), spasmodic dysphonia (43.0; 42.2 to 43.9), and blepharospasm-oromandibular dystonia (55.7; 55.1 to 56.4). 15505159 2004
CUI: C4316810
Disease: Writer's Cramp
Writer's Cramp
0.500 GeneticVariation disease BEFREE To determine the frequency of this mutation in a larger series of patients, we examined 44 index patients with sporadic or familial (seven patients) writer's cramp for the presence of the DYT1 GAG deletion, including eight patients with segmental dystonia involving at least one upper limb. 11104212 2000
CUI: C4316810
Disease: Writer's Cramp
Writer's Cramp
0.500 GeneticVariation disease BEFREE The GAG deletion in the DYT1 gene was excluded in the proband and in the family member affected by writer's cramp. 10495044 1999
CUI: C4316810
Disease: Writer's Cramp
Writer's Cramp
0.500 Biomarker disease BEFREE We demonstrate that writer's cramp or focal cervical dystonia is a clinical presentation of DYT1 as well as generalized dystonia. 10225357 1999
CUI: C4316810
Disease: Writer's Cramp
Writer's Cramp
0.500 GeneticVariation disease BEFREE Phenotypic expression of the DYT1 mutation: a family with writer's cramp of juvenile onset. 9667600 1998
CUI: C4316810
Disease: Writer's Cramp
Writer's Cramp
0.500 GeneticVariation disease BEFREE Genetic haplotypes at five marker loci that are closely linked to the DYT1 gene on chromosome 9q were determined in 10 Ashkenazi Jewish patients with focal hand dystonia (eight with musician's cramp, two with writer's cramp). 8684386 1996
CUI: C4316810
Disease: Writer's Cramp
Writer's Cramp
0.500 Biomarker disease HPO