DYT6
MCID: DYS067
MIFTS: 40

Dystonia 6, Torsion (DYT6)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Dystonia 6, Torsion

MalaCards integrated aliases for Dystonia 6, Torsion:

Name: Dystonia 6, Torsion 56 73 29 13 6 71
Dyt6 56 58 73
Torsion Dystonia 6 12 15
Generalized Cervical and Upper-Limb-Onset Dystonia 58
Torsion Dystonia, Adult-Onset, Mixed Type 56
Idiopathic Torsion Dystonia of Mixed Type 58
Adult-Onset Torsion Dystonia Mixed Type 73
Autosomal Dominant Torsion Dystonia 6 73
Primary Dystonia, Dyt6 Type 58
Dystonia, Type 6, Torsion 39
Torsion Dystonia Type 6 73
Dystonia-6 73

Characteristics:

Orphanet epidemiological data:

58
primary dystonia, dyt6 type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
variable distribution, may be focal, segmental, multifocal, or generalized
average age at onset 19 years (range 5 to 38)
often presents with cranial or cervical involvement
reduced penetrance (about 60%)


HPO:

31
dystonia 6, torsion:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0090039
OMIM 56 602629
OMIM Phenotypic Series 56 PS128100
MeSH 43 D004421
ICD10 32 G24.1
ICD10 via Orphanet 33 G24.1
UMLS via Orphanet 72 C1414216
Orphanet 58 ORPHA98806
MedGen 41 C1414216
UMLS 71 C1414216

Summaries for Dystonia 6, Torsion

UniProtKB/Swiss-Prot : 73 Dystonia 6, torsion: A primary torsion dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Dystonia type 6 is characterized by onset in early adulthood, cranial or cervical involvement in about half of the cases, and frequent progression to involve multiple body regions.

MalaCards based summary : Dystonia 6, Torsion, also known as dyt6, is related to focal dystonia and dystonia 1, torsion, autosomal dominant, and has symptoms including torticollis and lingual dystonia. An important gene associated with Dystonia 6, Torsion is THAP1 (THAP Domain Containing 1). Affiliated tissues include brain, tongue and eye, and related phenotypes are generalized dystonia and dysarthria

Disease Ontology : 12 A generalized dystonia that is characterized by early-onset generalised dystonia typically involing the craniocervical region with spasmodic dysphonia that has material basis in autosomal dominant inheritance of heterozygous mutation in the THAP domain containing 1 gene (THAP1) on chromosome 8p11.

OMIM : 56 Dystonia-6 is an autosomal dominant movement disorder characterized by early involvement of craniofacial muscles with secondary generalization often involving the arms, and laryngeal dystonia that causes speech difficulties (review by Djarmati et al., 2009). Blanchard et al. (2011) provided a review of dystonia-6 and the THAP1 gene. (602629)

Related Diseases for Dystonia 6, Torsion

Diseases in the Torsion Dystonia with Onset in Infancy family:

Dystonia 1, Torsion, Autosomal Dominant Dystonia 4, Torsion, Autosomal Dominant
Dystonia 2, Torsion, Autosomal Recessive Dystonia 7, Torsion
Dystonia 6, Torsion Dystonia 13, Torsion, Autosomal Dominant
Dystonia 17, Torsion, Autosomal Recessive Torsion Dystonia 2
Torsion Dystonia 4 Torsion Dystonia 17

Diseases related to Dystonia 6, Torsion via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
# Related Disease Score Top Affiliating Genes
1 focal dystonia 30.4 THAP1 CIZ1
2 dystonia 1, torsion, autosomal dominant 30.0 THAP1 HPCA CIZ1
3 oromandibular dystonia 29.9 THAP1 CIZ1
4 isolated dystonia 29.9 THAP1 HPCA
5 cervical dystonia 29.8 THAP1 CIZ1
6 dystonia 3, torsion, x-linked 29.8 THAP1 HPCA
7 spasmodic dystonia 29.4 THAP1 HPCA CIZ1
8 movement disease 29.4 THAP1 CIZ1
9 segmental dystonia 29.4 THAP1 HPCA CIZ1
10 dystonia 29.1 THAP1 HPCA CIZ1
11 dyt-thap1 11.5
12 spasmodic dysphonia 10.3
13 obsolete: laryngeal dyskinesia 10.3
14 dystonia 12 10.2
15 dyt-gnal 10.2
16 hereditary dystonia 10.2
17 dystonia 4, torsion, autosomal dominant 10.0
18 dystonia 7, torsion 10.0
19 dystonia 13, torsion, autosomal dominant 10.0
20 dystonia 17, torsion, autosomal recessive 10.0
21 heart and brain malformation syndrome 10.0
22 chorea, childhood-onset, with psychomotor retardation 10.0
23 focal hand dystonia 10.0
24 choreatic disease 10.0
25 tremor 10.0
26 obsolete: autosomal dominant focal dystonia, dyt7 type 10.0
27 blepharospasm 9.9 THAP1 CIZ1
28 dystonia 11, myoclonic 9.8 THAP1 CIZ1
29 dystonia 24 9.7 THAP1 HPCA
30 alternating hemiplegia of childhood 9.7 THAP1 CIZ1
31 torsion dystonia 4 9.7 HPCA CIZ1
32 dystonia 27 9.6 HPCA CIZ1
33 multifocal dystonia 9.4 THAP1 HPCA CIZ1
34 torsion dystonia 2 9.4 THAP1 HPCA CIZ1
35 dystonia 25 9.4 THAP1 HPCA CIZ1

Graphical network of the top 20 diseases related to Dystonia 6, Torsion:



Diseases related to Dystonia 6, Torsion

Symptoms & Phenotypes for Dystonia 6, Torsion

Human phenotypes related to Dystonia 6, Torsion:

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 generalized dystonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0007325
2 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
3 blepharospasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0000643
4 torticollis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000473
5 lingual dystonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0031008
6 laryngeal dystonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0012049
7 myoclonus 31 occasional (7.5%) HP:0001336
8 limb dystonia 58 31 very rare (1%) Very rare (<4-1%) HP:0002451
9 dysphonia 31 HP:0001618
10 dystonia 58 Very frequent (99-80%)
11 oromandibular dystonia 31 HP:0012048
12 writer's cramp 31 HP:0002356
13 torsion dystonia 31 HP:0001304
14 abnormality of the head 31 HP:0000234
15 craniofacial dystonia 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
dysarthria
dysphonia
writer's cramp
torsion dystonia
dystonia, trunk and limbs (upper and lower)
more
Respiratory Larynx:
laryngeal dystonia

Head And Neck Head:
cranial dystonia

Skeletal Limbs:
dystonia, upper and lower limbs

Head And Neck Neck:
torticollis

Head And Neck Face:
facial dystonia
jaw dystonia

Head And Neck Mouth:
tongue dystonia

Clinical features from OMIM:

602629

UMLS symptoms related to Dystonia 6, Torsion:


torticollis, lingual dystonia

Drugs & Therapeutics for Dystonia 6, Torsion

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 Dystonia 6, Torsion

Genetic Tests for Dystonia 6, Torsion

Genetic tests related to Dystonia 6, Torsion:

# Genetic test Affiliating Genes
1 Dystonia 6, Torsion 29 THAP1

Anatomical Context for Dystonia 6, Torsion

MalaCards organs/tissues related to Dystonia 6, Torsion:

40
Brain, Tongue, Eye, Globus Pallidus, Heart

Publications for Dystonia 6, Torsion

Articles related to Dystonia 6, Torsion:

(show top 50) (show all 123)
# Title Authors PMID Year
1
Identification and functional analysis of novel THAP1 mutations. 61 56 6
21847143 2012
2
Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. 61 56 6
19345147 2009
3
Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study. 61 56 6
19345148 2009
4
Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. 61 56 6
19182804 2009
5
DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene. 61 56
21793105 2011
6
EFNS guidelines on diagnosis and treatment of primary dystonias. 61 6
20482602 2011
7
THAP1 mutations (DYT6) are an additional cause of early-onset dystonia. 61 56
20211909 2010
8
Novel THAP1 sequence variants in primary dystonia. 61 56
20083799 2010
9
Abnormal striatal and thalamic dopamine neurotransmission: Genotype-related features of dystonia. 61 56
19528516 2009
10
Narrowing the DYT6 dystonia region and evidence for locus heterogeneity in the Amish-Mennonites. 61 56
17702011 2007
11
Regional metabolism in primary torsion dystonia: effects of penetrance and genotype. 61 56
15111678 2004
12
Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families. 61 56
9382482 1997
13
Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype. 56
21110056 2011
14
Hereditary Dystonia Overview 6
20301334 2003
15
Clinical and molecular genetics of primary dystonias. 56
10737119 1998
16
Pallidal Deep Brain Stimulation in DYT6 Dystonia: Clinical Outcome and Predictive Factors for Motor Improvement. 61
31817799 2019
17
Diverse Mechanisms Lead to Common Dysfunction of Striatal Cholinergic Interneurons in Distinct Genetic Mouse Models of Dystonia. 61
31320448 2019
18
The Effect of Globus Pallidus Interna Deep Brain Stimulation on a Dystonia Patient with the GNAL Mutation Compared to Patients with DYT1 and DYT6. 61
31158945 2019
19
Loss of the dystonia gene Thap1 leads to transcriptional deficits that converge on common pathogenic pathways in dystonic syndromes. 61
30590536 2019
20
Generation and characterization of eight human-derived iPSC lines from affected and unaffected THAP1 mutation carriers. 61
30316041 2018
21
Digitized spiral analysis may be a potential biomarker for brachial dystonia. 61
30037691 2018
22
Diagnosis and treatment of pediatric onset isolated dystonia. 61
29396174 2018
23
Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions. 61
29364887 2018
24
Reversal of Status Dystonicus after Relocation of Pallidal Electrodes in DYT6 Generalized Dystonia. 61
29520331 2018
25
Dystonia of the soft palate: Mutation of the THAP1 (DYT6) gene in a 42-year-old patient. 61
29129324 2018
26
Phenomenology, genetics, and CNS network abnormalities in laryngeal dystonia: A 30-year experience. 61
29219190 2018
27
Dystonia-causing mutations in the transcription factor THAP1 disrupt HCFC1 cofactor recruitment and alter gene expression. 61
28486698 2017
28
THAP1: Role in Mouse Embryonic Stem Cell Survival and Differentiation. 61
28579396 2017
29
The DYT6 Dystonia Protein THAP1 Regulates Myelination within the Oligodendrocyte Lineage. 61
28697333 2017
30
In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein. 61
28299530 2017
31
New THAP1 mutation and role of putative modifier in TOR1A. 61
26940431 2017
32
Genetic screening of THAP1 in primary dystonia patients of India. 61
27913194 2017
33
Dystonia-Causing Mutations as a Contribution to the Etiology of Spasmodic Dysphonia. 61
27188707 2016
34
Excellent outcome of pallidal deep brain stimulation in DYT6 dystonia: A case report. 61
27288769 2016
35
GNAL mutation in isolated laryngeal dystonia. 61
27093447 2016
36
DYT6 Dystonia: A Neuropathological Study. 61
26610312 2016
37
Long-term effect on dystonia after pallidal deep brain stimulation (DBS) in three members of a family with a THAP1 mutation. 61
26486352 2015
38
Abnormalities of motor function, transcription and cerebellar structure in mouse models of THAP1 dystonia. 61
26376866 2015
39
Persistent chorea in DYT6, due to anticholinergic therapy. 61
26275586 2015
40
All in the blink of an eye: new insight into cerebellar and brainstem function in DYT1 and DYT6 dystonia. 61
25039324 2015
41
Short- and long-term outcome of chronic pallidal neurostimulation in monogenic isolated dystonia. 61
25653290 2015
42
Screening for THAP1 Mutations in Polish Patients with Dystonia Shows Known and Novel Substitutions. 61
26087139 2015
43
THAP1, the gene mutated in DYT6 dystonia, autoregulates its own expression. 61
25088175 2014
44
Inherited isolated dystonia: clinical genetics and gene function. 61
25155315 2014
45
Novel DYT11 gene mutation in patients without dopaminergic deficit (SWEDD) screened for dystonia. 61
25150291 2014
46
Dystonia type 6 gene product Thap1: identification of a 50 kDa DNA-binding species in neuronal nuclear fractions. 61
25231164 2014
47
The phenotypic spectrum of DYT24 due to ANO3 mutations. 61
24442708 2014
48
Pallidal Deep Brain Stimulation in DYT6: Significant Long-Term Improvement of Dystonia and Disability. 61
30363790 2014
49
DYT6 in Japan-genetic screening and clinical characteristics of the patients. 61
24227593 2014
50
Infratentorial gray matter atrophy and excess in primary craniocervical dystonia. 61
24262871 2014

Variations for Dystonia 6, Torsion

ClinVar genetic disease variations for Dystonia 6, Torsion:

6 (show all 33) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 THAP1 THAP1, 5-BP INS/3-BP DEL, NT134indel Pathogenic 1645
2 THAP1 NM_018105.3(THAP1):c.241T>C (p.Phe81Leu)SNV Pathogenic 1646 rs118204013 8:42694355-42694355 8:42839212-42839212
3 THAP1 NM_018105.3(THAP1):c.460del (p.Gln154fs)deletion Pathogenic 1647 8:42693287-42693287 8:42838144-42838144
4 THAP1 NM_018105.3(THAP1):c.266A>G (p.Lys89Arg)SNV Pathogenic 1648 rs267607111 8:42694330-42694330 8:42839187-42839187
5 THAP1 NM_018105.3(THAP1):c.384_385TC[2] (p.Val131fs)short repeat Pathogenic 1649 8:42693358-42693359 8:42838215-42838216
6 THAP1 NM_018105.3(THAP1):c.474del (p.Lys158fs)deletion Pathogenic 1650 8:42693273-42693273 8:42838130-42838130
7 THAP1 NM_018105.3(THAP1):c.25G>T (p.Gly9Cys)SNV Pathogenic 1651 rs267607112 8:42698213-42698213 8:42843070-42843070
8 THAP1 NM_018105.3(THAP1):c.70A>G (p.Lys24Glu)SNV Pathogenic 31631 rs387907176 8:42698168-42698168 8:42843025-42843025
9 THAP1 NM_018105.3(THAP1):c.68A>C (p.His23Pro)SNV Pathogenic 31632 rs387907177 8:42698170-42698170 8:42843027-42843027
10 THAP1 NM_018105.3(THAP1):c.289C>T (p.Gln97Ter)SNV Pathogenic 532262 rs1554599616 8:42693458-42693458 8:42838315-42838315
11 THAP1 NM_018105.3(THAP1):c.7C>T (p.Gln3Ter)SNV Pathogenic 532263 rs1554599983 8:42698231-42698231 8:42843088-42843088
12 THAP1 NM_018105.3(THAP1):c.131del (p.Asn44fs)deletion Pathogenic 532261 rs1554599712 8:42694465-42694465 8:42839322-42839322
13 THAP1 NM_018105.3(THAP1):c.305dup (p.Pro103fs)duplication Pathogenic 568461 rs1563644456 8:42693441-42693442 8:42838298-42838299
14 THAP1 NM_018105.3(THAP1):c.201_203CAA[2] (p.Asn69del)short repeat Pathogenic 569769 rs1563644810 8:42694387-42694389 8:42839244-42839246
15 THAP1 NM_018105.3(THAP1):c.331C>T (p.Gln111Ter)SNV Pathogenic 654563 8:42693416-42693416 8:42838273-42838273
16 THAP1 NM_018105.3(THAP1):c.112del (p.Ala38fs)deletion Pathogenic 807516 8:42694484-42694484 8:42839341-42839341
17 THAP1 NM_018105.3(THAP1):c.14G>A (p.Cys5Tyr)SNV Likely pathogenic 807708 8:42698224-42698224 8:42843081-42843081
18 THAP1 NM_018105.3(THAP1):c.2T>C (p.Met1Thr)SNV Likely pathogenic 582441 rs1563646198 8:42698236-42698236 8:42843093-42843093
19 THAP1 NM_018105.3(THAP1):c.25G>A (p.Gly9Ser)SNV Likely pathogenic 692056 8:42698213-42698213 8:42843070-42843070
20 THAP1 NM_018105.3(THAP1):c.62C>T (p.Ser21Phe)SNV Likely pathogenic 425441 rs1064797344 8:42698176-42698176 8:42843033-42843033
21 THAP1 NM_018105.3(THAP1):c.505C>T (p.Arg169Ter)SNV Likely pathogenic 429366 rs1131691345 8:42693242-42693242 8:42838099-42838099
22 THAP1 NM_018105.3(THAP1):c.43_45del (p.Asp15del)deletion Uncertain significance 567899 rs1478723907 8:42698193-42698195 8:42843050-42843052
23 THAP1 NM_018105.3(THAP1):c.140_142CCA[1] (p.Thr48del)short repeat Uncertain significance 573861 rs1563644832 8:42694451-42694453 8:42839308-42839310
24 THAP1 NM_018105.3(THAP1):c.161G>C (p.Cys54Ser)SNV Uncertain significance 463442 rs1554599707 8:42694435-42694435 8:42839292-42839292
25 THAP1 NM_018105.3(THAP1):c.149A>G (p.Tyr50Cys)SNV Uncertain significance 463441 rs1554599710 8:42694447-42694447 8:42839304-42839304
26 THAP1 NM_018105.3(THAP1):c.506G>A (p.Arg169Gln)SNV Uncertain significance 521683 rs767519301 8:42693241-42693241 8:42838098-42838098
27 THAP1 NM_018105.3(THAP1):c.-34G>ASNV Uncertain significance 692215 8:42698271-42698271 8:42843128-42843128
28 THAP1 NM_018105.3(THAP1):c.427A>G (p.Met143Val)SNV Uncertain significance 225489 rs374512193 8:42693320-42693320 8:42838177-42838177
29 THAP1 NM_018105.3(THAP1):c.164C>T (p.Ser55Leu)SNV Uncertain significance 661711 8:42694432-42694432 8:42839289-42839289
30 THAP1 NM_018105.3(THAP1):c.267+6A>GSNV Uncertain significance 653740 8:42694323-42694323 8:42839180-42839180
31 THAP1 NM_018105.3(THAP1):c.72-10_72-9delinsGCindel Uncertain significance 651723 8:42694533-42694534 8:42839390-42839391
32 THAP1 NM_018105.3(THAP1):c.363G>A (p.Pro121=)SNV Likely benign 463444 rs202128051 8:42693384-42693384 8:42838241-42838241
33 THAP1 NM_018105.3(THAP1):c.421G>A (p.Asp141Asn)SNV Benign/Likely benign 448685 rs138345513 8:42693326-42693326 8:42838183-42838183

UniProtKB/Swiss-Prot genetic disease variations for Dystonia 6, Torsion:

73 (show all 45)
# Symbol AA change Variation ID SNP ID
1 THAP1 p.Phe81Leu VAR_054788 rs118204013
2 THAP1 p.Asn12Lys VAR_065880
3 THAP1 p.Ser21Thr VAR_065881
4 THAP1 p.Arg29Pro VAR_065882
5 THAP1 p.Ala39Thr VAR_065883
6 THAP1 p.Thr59Ile VAR_065884
7 THAP1 p.Lys89Arg VAR_065885 rs267607111
8 THAP1 p.Asn136Lys VAR_065886
9 THAP1 p.Cys170Arg VAR_065887
10 THAP1 p.Ser6Phe VAR_066677
11 THAP1 p.Ser6Pro VAR_066678
12 THAP1 p.Tyr8Cys VAR_066679
13 THAP1 p.Gly9Cys VAR_066680 rs267607112
14 THAP1 p.Arg13His VAR_066681
15 THAP1 p.Lys16Glu VAR_066682
16 THAP1 p.Asp17Gly VAR_066683 rs766483829
17 THAP1 p.His23Pro VAR_066684 rs387907177
18 THAP1 p.Lys24Glu VAR_066685 rs387907176
19 THAP1 p.Pro26Leu VAR_066686
20 THAP1 p.Pro26Arg VAR_066687
21 THAP1 p.Arg29Gln VAR_066688 rs767952378
22 THAP1 p.Pro30Arg VAR_066689
23 THAP1 p.Leu32His VAR_066690
24 THAP1 p.Cys54Phe VAR_066691
25 THAP1 p.His57Asn VAR_066692
26 THAP1 p.Leu72Arg VAR_066694
27 THAP1 p.Asn75Ile VAR_066695
28 THAP1 p.Ile80Val VAR_066696 rs372080941
29 THAP1 p.Cys83Arg VAR_066697 rs768017019
30 THAP1 p.Phe132Ser VAR_066698 rs950435041
31 THAP1 p.Asn136Ser VAR_066699 rs769988455
32 THAP1 p.Tyr137Cys VAR_066700
33 THAP1 p.Met143Val VAR_066701 rs374512193
34 THAP1 p.Ile149Thr VAR_066702
35 THAP1 p.His150Pro VAR_066703
36 THAP1 p.Ala166Thr VAR_066704 rs138918468
37 THAP1 p.Arg169Gln VAR_066705 rs767519301
38 THAP1 p.Glu174Gly VAR_066706 rs759392096
39 THAP1 p.Leu180Ser VAR_066707
40 THAP1 p.Gln187Lys VAR_066708
41 THAP1 p.Asp192Asn VAR_066709 rs377725442
42 THAP1 p.Ala7Asp VAR_067356
43 THAP1 p.Ser21Cys VAR_067357
44 THAP1 p.Glu56Gly VAR_072272
45 THAP1 p.Leu177Pro VAR_079366

Expression for Dystonia 6, Torsion

Search GEO for disease gene expression data for Dystonia 6, Torsion.

Pathways for Dystonia 6, Torsion

GO Terms for Dystonia 6, Torsion

Sources for Dystonia 6, Torsion

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