THAP1, THAP domain containing 1, 55145

N. diseases: 51; N. variants: 27
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.400 GeneticVariation group BEFREE We report a case of a 51-year-old male DYT-THAP1 mutation carrier with dystonia, who additionally developed ataxia 1.5 years ago. 31367947 2019
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.400 GeneticVariation group BEFREE Available data on the effect in DYT-THAP1 dystonia (also known as DYT6 dystonia) are scarce and long-term follow-up studies are lacking. 31817799 2019
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.400 Biomarker group BEFREE However, THAP1 downstream targets in neurons, and the mechanism via which it causes dystonia are largely unknown. 29364887 2018
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.400 GeneticVariation group BEFREE These lines provide a valuable resource for studying the impact of THAP1 mutations on the pathology of dystonia. 30316041 2018
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.400 Biomarker group BEFREE There are well-known monogenic forms of isolated dystonia with pediatric onset such as DYT1 and DYT6 transmitted with autosomal dominant inheritance and low penetrance. 29396174 2018
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.400 GeneticVariation group BEFREE Our goal was to characterize patients with inherited and isolated dystonia and determine the frequency of mutations responsible for DYT1 and DYT6 in Brazilian patients. 26940431 2017
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.400 Biomarker group BEFREE The DYT6 Dystonia Protein THAP1 Regulates Myelination within the Oligodendrocyte Lineage. 28697333 2017
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.400 GeneticVariation group BEFREE Thanatos-associated protein domain containing, apoptosis-associated protein 1 (THAP1), the gene mutated in DYT6 dystonia, encodes a transcription factor. 28486698 2017
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.400 Biomarker group BEFREE In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein. 28299530 2017
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.400 Biomarker group BEFREE THAP1 downstream targets and the mechanism via which it causes dystonia are largely unknown. 28579396 2017
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.400 GeneticVariation group BEFREE A total of three nucleotide variants were detected, which include a reported missense mutation (c.427 A>G; p.Met143Val) in a juvenile onset generalized dystonia patient, a novel frameshift deletion mutation (c.208-209 ΔAA; p.K70VfsX15) in a juvenile onset cervical dystonia patient and a rare variant in 3' UTR of THAP1 (c.*157 T>C) in an adult-onset blepharospasm patient. 27913194 2017
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.400 GeneticVariation group BEFREE Mutations in the thanatos-associated protein domain containing apoptosis-associated protein 1 gene (THAP1) are responsible for adult-onset isolated dystonia (DYT6). 26610312 2016
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.400 GeneticVariation group BEFREE GNAL mutations are not a common cause of dystonia in the Brazilian population and have a lower prevalence than THAP1 and TOR1A mutations. 26810727 2016
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.400 Biomarker group BEFREE Moreover, in the absence of family history and strong in silico or in vitro evidence of deleteriousness, the pathogenicity of novel SVs in THAP1 and other dystonia-associated genes can be indeterminate. 26944167 2016
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.400 GeneticVariation group BEFREE Our findings strongly suggest the role of other genetic factors or environmental triggers in the pathogenesis of dystonia related to mutations in THAP1 gene. 25385508 2015
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.400 Biomarker group BEFREE Therefore, a previously proposed association between this substitution and DYT6 dystonia seems unlikely. 26087139 2015
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.400 Biomarker group BEFREE Overall, our observation supports pallidal DBS as an important treatment option in patients with DYT6 dystonia. 26486352 2015
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.400 GeneticVariation group BEFREE Carriers were less likely to have dystonia restricted to a single site (11.11% in carriers vs. 65.9% in noncarriers; P < 0.01) and were less likely to have dystonia onset in cervical regions (25.9% of THAP1 carriers vs. 52.5% of noncarriers; P = 0.04). 24500857 2014
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.400 GeneticVariation group BEFREE Therefore, THAP1 variants are an important cause of dystonia among individuals with an early-onset disease and a positive family history. 24976531 2014
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.400 GeneticVariation group BEFREE He was diagnosed as having DYT6 dystonia with mutations in the THAP1 gene. 25359437 2014
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.400 GeneticVariation group BEFREE Here, I review the clinical genetics and cell biology of three forms of inherited dystonia for which the causative mutation is known: DYT1 (TOR1A), DYT6 (THAP1), DYT25 (GNAL). 25155315 2014
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.400 GeneticVariation group BEFREE The deletion of THAP1 in addition to SLC20A2 in the Canadian IBGC family may contribute to the severe and early onset dystonia in this family. 24135862 2014
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.400 GeneticVariation group BEFREE Notably, mutations in both of these genes lead to dystonia (DYT6 or DYT1). 25088175 2014
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.400 GeneticVariation group BEFREE After excluding mutations in known primary dystonia genes (TOR1A, THAP1 and CIZ1), whole-exome sequencing identified a GNAL missense mutation (c.682G>T, p.V228F) in an African-American pedigree with clinical phenotypes that include cervical, laryngeal and hand-forearm dystonia. 23449625 2013
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.400 Biomarker group BEFREE Dystonias with known genes include DYT1 and DYT6 dystonia, presenting as isolated torsion dystonia, as well as DYT5 (dopa-responsive dystonia), DYT11 (myoclonus-dystonia), and DYT12 (rapid-onset dystonia-parkinsonism), where dystonia occurs in conjunction with other types of movement disorders. 23622412 2013