DYT6
MCID: DYT005
MIFTS: 18

Dyt-Thap1 (DYT6)

Categories: Rare diseases

Aliases & Classifications for Dyt-Thap1

MalaCards integrated aliases for Dyt-Thap1:

Name: Dyt-Thap1 53
Dystonia 6 53 25
Dyt6 53 25
Idiopathic Torsion Dystonia of Mixed Type 25
Adolescent-Onset Dystonia of Mixed Type 53
Torsion Dystonia Adult Onset Mixed Type 53
Primary Dystonia, Dyt6 Type 25
Torsion Dystonia 6 25
Thap1 Dystonia 25
Dyt6 Dystonia 25

Classifications:



Summaries for Dyt-Thap1

Genetics Home Reference : 25 Dystonia 6 is one of many forms of dystonia, which is a group of conditions characterized by involuntary movements, twisting (torsion) and tensing of various muscles, and unusual positioning of affected body parts. Dystonia 6 can appear at any age from childhood through adulthood; the average age of onset is 18. The signs and symptoms of dystonia 6 vary among affected individuals. The disorder usually first impacts muscles of the head and neck, causing problems with speaking (dysarthria) and eating (dysphagia). Eyelid twitching (blepharospasm) may also occur. Involvement of one or more limbs is common, and in some cases occurs before the head and neck problems. Dystonia 6 gradually gets worse, and it may eventually involve most of the body.

MalaCards based summary : Dyt-Thap1, also known as dystonia 6, is related to dystonia 6, torsion and dystonia 1, torsion, autosomal dominant. Affiliated tissues include brain, eye and globus pallidus.

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 98806DefinitionPrimary dystonia DYT6 type is characterized by focal, predominantly cranio-cervical dystonia with dysarthria and dysphagia, or limb dystonia in some cases.EpidemiologyIt has been reported in two Amish-Mennonite families.Clinical descriptionAdolescent and early-adult onset have been reported (average age of onset 19 years). The disease rarely progresses to generalized dystonia.EtiologyDYT6 is caused by mutations in the THAP1 gene (on chromosome 8).Genetic counselingDYT6 is transmitted as an autosomal dominant trait.Visit the Orphanet disease page for more resources.

Related Diseases for Dyt-Thap1

Graphical network of the top 20 diseases related to Dyt-Thap1:



Diseases related to Dyt-Thap1

Symptoms & Phenotypes for Dyt-Thap1

Drugs & Therapeutics for Dyt-Thap1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Investigating the Plastic Effects of Repetitive Paired Associative Stimulation (rPAS) in Dystonia Completed NCT01888926

Search NIH Clinical Center for Dyt-Thap1

Genetic Tests for Dyt-Thap1

Anatomical Context for Dyt-Thap1

MalaCards organs/tissues related to Dyt-Thap1:

41
Brain, Eye, Globus Pallidus

Publications for Dyt-Thap1

Articles related to Dyt-Thap1:

(show top 50) (show all 120)
# Title Authors PMID Year
1
Diverse mechanisms lead to common dysfunction of striatal cholinergic interneurons in distinct genetic mouse models of dystonia. 38
31320448 2019
2
Cerebellar Involvement in DYT-THAP1 Dystonia. 38
31367947 2019
3
The Effect of Globus Pallidus Interna Deep Brain Stimulation on a Dystonia Patient with the GNAL Mutation Compared to Patients with DYT1 and DYT6. 38
31158945 2019
4
Loss of the dystonia gene Thap1 leads to transcriptional deficits that converge on common pathogenic pathways in dystonic syndromes. 38
30590536 2019
5
Generation and characterization of eight human-derived iPSC lines from affected and unaffected THAP1 mutation carriers. 38
30316041 2018
6
Digitized spiral analysis may be a potential biomarker for brachial dystonia. 38
30037691 2018
7
Diagnosis and treatment of pediatric onset isolated dystonia. 38
29396174 2018
8
Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions. 38
29364887 2018
9
Dystonia of the soft palate: Mutation of the THAP1 (DYT6) gene in a 42-year-old patient. 38
29129324 2018
10
Reversal of Status Dystonicus after Relocation of Pallidal Electrodes in DYT6 Generalized Dystonia. 38
29520331 2018
11
Phenomenology, genetics, and CNS network abnormalities in laryngeal dystonia: A 30-year experience. 38
29219190 2018
12
Inherited dystonias: clinical features and molecular pathways. 38
29325615 2018
13
Dystonia-causing mutations in the transcription factor THAP1 disrupt HCFC1 cofactor recruitment and alter gene expression. 38
28486698 2017
14
THAP1: Role in Mouse Embryonic Stem Cell Survival and Differentiation. 38
28579396 2017
15
The DYT6 Dystonia Protein THAP1 Regulates Myelination within the Oligodendrocyte Lineage. 38
28697333 2017
16
In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein. 38
28299530 2017
17
New THAP1 mutation and role of putative modifier in TOR1A. 38
26940431 2017
18
Genetic screening of THAP1 in primary dystonia patients of India. 38
27913194 2017
19
Dystonia-Causing Mutations as a Contribution to the Etiology of Spasmodic Dysphonia. 38
27188707 2016
20
Excellent outcome of pallidal deep brain stimulation in DYT6 dystonia: A case report. 38
27288769 2016
21
GNAL mutation in isolated laryngeal dystonia. 38
27093447 2016
22
DYT6 Dystonia: A Neuropathological Study. 38
26610312 2016
23
Abnormalities of motor function, transcription and cerebellar structure in mouse models of THAP1 dystonia. 38
26376866 2015
24
Long-term effect on dystonia after pallidal deep brain stimulation (DBS) in three members of a family with a THAP1 mutation. 38
26486352 2015
25
Persistent chorea in DYT6, due to anticholinergic therapy. 38
26275586 2015
26
All in the blink of an eye: new insight into cerebellar and brainstem function in DYT1 and DYT6 dystonia. 38
25039324 2015
27
Short- and long-term outcome of chronic pallidal neurostimulation in monogenic isolated dystonia. 38
25653290 2015
28
Screening for THAP1 Mutations in Polish Patients with Dystonia Shows Known and Novel Substitutions. 38
26087139 2015
29
THAP1, the gene mutated in DYT6 dystonia, autoregulates its own expression. 38
25088175 2014
30
Inherited isolated dystonia: clinical genetics and gene function. 38
25155315 2014
31
Novel DYT11 gene mutation in patients without dopaminergic deficit (SWEDD) screened for dystonia. 38
25150291 2014
32
Dystonia type 6 gene product Thap1: identification of a 50 kDa DNA-binding species in neuronal nuclear fractions. 38
25231164 2014
33
Pallidal Deep Brain Stimulation in DYT6: Significant Long-Term Improvement of Dystonia and Disability. 38
30363790 2014
34
The phenotypic spectrum of DYT24 due to ANO3 mutations. 38
24442708 2014
35
DYT6 in Japan-genetic screening and clinical characteristics of the patients. 38
24227593 2014
36
Infratentorial gray matter atrophy and excess in primary craniocervical dystonia. 38
24262871 2014
37
Dystonia--new advances in classification, genetics, pathophysiology and treatment. 38
24588501 2014
38
DYT6 in Brazil: Genetic Assessment and Clinical Characteristics of Patients. 38
24757586 2014
39
Genetics in dystonia. 38
24262166 2014
40
Intrafamilial variability of the primary dystonia DYT6 phenotype caused by p.Cys5Trp mutation in THAP1 gene. 38
25168324 2014
41
Deep brain stimulation of the thalamic ventral lateral anterior nucleus for DYT6 dystonia. 38
25359437 2014
42
Pallidal deep brain stimulation for the treatment of DYT6 dystonia: a case report and review of literature. 38
25250280 2014
43
Dystonia. 38
24092288 2013
44
Genetics of dystonia: what's known? What's new? What's next? 38
23893446 2013
45
Mutation screening of the DYT6/THAP1 gene in Serbian patients with primary dystonia. 38
23180184 2013
46
Progressive dystonia. 38
23622412 2013
47
Genetic issues in the diagnosis of dystonias. 38
23596437 2013
48
Early registration of diffusion tensor images for group tractography of dystonia patients. 38
22987473 2013
49
Mutations in GNAL cause primary torsion dystonia. 38
23222958 2013
50
Metabolic changes in DYT11 myoclonus-dystonia. 38
23284065 2013

Variations for Dyt-Thap1

Expression for Dyt-Thap1

Search GEO for disease gene expression data for Dyt-Thap1.

Pathways for Dyt-Thap1

GO Terms for Dyt-Thap1

Sources for Dyt-Thap1

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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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71 Tocris
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73 UMLS via Orphanet
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