DYT13, dystonia 13, torsion, 93983

N. diseases: 7; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1843264
Disease: DYSTONIA 13, TORSION
DYSTONIA 13, TORSION 		0.300 GermlineCausalMutation disease ORPHANET DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13--36.32 in an Italian family with cranial-cervical or upper limb onset. 11261511 2001
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome 		0.040 Biomarker disease BEFREE DYT13-PTD is an autosomal dominant disease, with incomplete penetrance (58%). 14978677 2004
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome 		0.040 GeneticVariation disease BEFREE PTD in this family was not linked to the known disease loci (DYT1, DYT6, DYT7, and DYT13), and the 3-bp deletion in the DYT1 gene was also excluded. 11921130 2002
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome 		0.040 GeneticVariation disease BEFREE A genome-wide search performed in the family identified a novel PTD locus (DYT13) within a 22-cM interval on the short arm of chromosome 1, with a maximum lod score of 3.44 (theta = 0) between the disease and marker D1S2667. 11487218 2001
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome 		0.040 GeneticVariation disease BEFREE Linkage analysis and haplotype construction allowed us to identify a novel PTD locus (DYT13) within a 22 cM interval on the short arm of chromosome 1, with a maximum lod score of 3.44 between the disease and marker D1S2667. 11261511 2001
CUI: C0743332
Disease: Focal Dystonia
Focal Dystonia 		0.020 GeneticVariation disease BEFREE To evaluate the frequency of familial focal dystonia in a French population presenting with PFD, we screened 197 patients (150 index cases and 47 affected family members) presenting focal primary dystonia for the GAG deletion in the DYT1 gene and analyzed linkage to the DYT6, DYT7, and DYT13 loci in those who presented a family history. 15726581 2005
CUI: C0013423
Disease: Dystonia Musculorum Deformans
Dystonia Musculorum Deformans 		0.020 GeneticVariation disease BEFREE Conditions discussed in detail include idiopathic torsion dystonia (DYT1), focal dystonias (DYT7) and mixed dystonias (DYT6 and DYT13), dopa-responsive dystonia, myoclonus dystonia, rapid-onset dystonia parkinsonism, Fahr disease, Aicardi-Goutieres syndrome, Hallervorden-Spatz syndrome, X-linked dystonia parkinsonism, deafness-dystonia syndrome, mitochondrial dystonias, neuroacanthocytosis and the paroxysmal dystonias/dyskinesias. 11912106 2002
CUI: C0743332
Disease: Focal Dystonia
Focal Dystonia 		0.020 GeneticVariation disease BEFREE Conditions discussed in detail include idiopathic torsion dystonia (DYT1), focal dystonias (DYT7) and mixed dystonias (DYT6 and DYT13), dopa-responsive dystonia, myoclonus dystonia, rapid-onset dystonia parkinsonism, Fahr disease, Aicardi-Goutieres syndrome, Hallervorden-Spatz syndrome, X-linked dystonia parkinsonism, deafness-dystonia syndrome, mitochondrial dystonias, neuroacanthocytosis and the paroxysmal dystonias/dyskinesias. 11912106 2002
CUI: C0013423
Disease: Dystonia Musculorum Deformans
Dystonia Musculorum Deformans 		0.020 GeneticVariation disease BEFREE Identification of a novel primary torsion dystonia locus (DYT13) on chromosome 1p36 in an Italian family with cranial-cervical or upper limb onset. 11487218 2001
CUI: C0013421
Disease: Dystonia
Dystonia 		0.010 Biomarker phenotype BEFREE Conditions discussed in detail include idiopathic torsion dystonia (DYT1), focal dystonias (DYT7) and mixed dystonias (DYT6 and DYT13), dopa-responsive dystonia, myoclonus dystonia, rapid-onset dystonia parkinsonism, Fahr disease, Aicardi-Goutieres syndrome, Hallervorden-Spatz syndrome, X-linked dystonia parkinsonism, deafness-dystonia syndrome, mitochondrial dystonias, neuroacanthocytosis and the paroxysmal dystonias/dyskinesias. 11912106 2002
CUI: C1997740
Disease: Segmental dystonia
Segmental dystonia 		0.010 GeneticVariation disease BEFREE Recently, a novel gene locus (DYT13) was detected in a family with segmental dystonia, and the gene causing myoclonus-dystonia was identified (SGCE). 12151848 2002
CUI: C3888090
Disease: Early onset torsion dystonia
Early onset torsion dystonia 		0.010 GeneticVariation disease BEFREE Identification of a novel primary torsion dystonia locus (DYT13) on chromosome 1p36 in an Italian family with cranial-cervical or upper limb onset. 11487218 2001