DYT6
MCID: DYS067
MIFTS: 37

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 13 71
Torsion Dystonia 6 12 29 6 15
Dyt6 56 58 73
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 torsion dystonia 6, is related to isolated dystonia and dystonia 3, torsion, x-linked, 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 tongue, 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 33)
# Related Disease Score Top Affiliating Genes
1 isolated dystonia 30.2 THAP1 HPCA
2 dystonia 3, torsion, x-linked 30.1 THAP1 HPCA
3 focal dystonia 30.1 THAP1 CIZ1
4 dystonia 1, torsion, autosomal dominant 30.0 THAP1 HPCA CIZ1
5 oromandibular dystonia 29.6 THAP1 CIZ1
6 cervical dystonia 29.5 THAP1 CIZ1
7 spasmodic dystonia 29.4 THAP1 HPCA CIZ1
8 segmental dystonia 29.4 THAP1 HPCA CIZ1
9 dystonia 12 29.3 THAP1 HPCA CIZ1
10 dystonia 29.1 THAP1 HPCA CIZ1
11 movement disease 29.1 THAP1 CIZ1
12 dyt-thap1 11.5
13 spasmodic dysphonia 10.4
14 dyt-gnal 10.2
15 hereditary dystonia 10.2
16 dystonia 4, torsion, autosomal dominant 10.1
17 dystonia 7, torsion 10.1
18 dystonia 13, torsion, autosomal dominant 10.1
19 dystonia 17, torsion, autosomal recessive 10.1
20 heart and brain malformation syndrome 10.1
21 chorea, childhood-onset, with psychomotor retardation 10.1
22 focal hand dystonia 10.1
23 choreatic disease 10.1
24 tremor 10.1
25 dystonia 24 9.9 THAP1 HPCA
26 torsion dystonia 4 9.7 HPCA CIZ1
27 blepharospasm 9.6 THAP1 CIZ1
28 dystonia 27 9.6 HPCA CIZ1
29 benign familial infantile epilepsy 9.6 THAP1 CIZ1
30 alternating hemiplegia of childhood 9.5 THAP1 CIZ1
31 multifocal dystonia 9.4 THAP1 HPCA CIZ1
32 torsion dystonia 2 9.4 THAP1 HPCA CIZ1
33 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 laryngeal dystonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0012049
6 lingual dystonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0031008
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 torsion dystonia 31 HP:0001304
12 writer's cramp 31 HP:0002356
13 craniofacial dystonia 58 Occasional (29-5%)
14 abnormality of the head 31 HP:0000234
15 oromandibular dystonia 31 HP:0012048

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
dysarthria
dysphonia
torsion dystonia
writer's cramp
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 Torsion Dystonia 6 29 THAP1

Anatomical Context for Dystonia 6, Torsion

MalaCards organs/tissues related to Dystonia 6, Torsion:

40
Tongue

Publications for Dystonia 6, Torsion

Articles related to Dystonia 6, Torsion:

(show all 16)
# Title Authors PMID Year
1
Identification and functional analysis of novel THAP1 mutations. 56 6
21847143 2012
2
Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. 56 6
19345147 2009
3
Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study. 56 6
19345148 2009
4
Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. 6 56
19182804 2009
5
DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene. 56
21793105 2011
6
Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype. 56
21110056 2011
7
EFNS guidelines on diagnosis and treatment of primary dystonias. 6
20482602 2011
8
THAP1 mutations (DYT6) are an additional cause of early-onset dystonia. 56
20211909 2010
9
Novel THAP1 sequence variants in primary dystonia. 56
20083799 2010
10
Abnormal striatal and thalamic dopamine neurotransmission: Genotype-related features of dystonia. 56
19528516 2009
11
Narrowing the DYT6 dystonia region and evidence for locus heterogeneity in the Amish-Mennonites. 56
17702011 2007
12
Regional metabolism in primary torsion dystonia: effects of penetrance and genotype. 56
15111678 2004
13
Hereditary Dystonia Overview 6
20301334 2003
14
Clinical and molecular genetics of primary dystonias. 56
10737119 1998
15
Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families. 56
9382482 1997
16
Broad spectrum of dystonia associated with a novel thanatosis-associated protein domain-containing apoptosis-associated protein 1 mutation in a Japanese family with dystonia 6, torsion. 61
22821615 2012

Variations for Dystonia 6, Torsion

ClinVar genetic disease variations for Dystonia 6, Torsion:

6 (show top 50) (show all 80) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 THAP1 NM_018105.3(THAP1):c.289C>T (p.Gln97Ter)SNV Pathogenic 532262 rs1554599616 8:42693458-42693458 8:42838315-42838315
2 THAP1 NM_018105.3(THAP1):c.7C>T (p.Gln3Ter)SNV Pathogenic 532263 rs1554599983 8:42698231-42698231 8:42843088-42843088
3 THAP1 NM_018105.3(THAP1):c.131del (p.Asn44fs)deletion Pathogenic 532261 rs1554599712 8:42694465-42694465 8:42839322-42839322
4 THAP1 NM_018105.3(THAP1):c.305dup (p.Pro103fs)duplication Pathogenic 568461 rs1563644456 8:42693441-42693442 8:42838298-42838299
5 THAP1 NM_018105.3(THAP1):c.201_203CAA[2] (p.Asn69del)short repeat Pathogenic 569769 rs1563644810 8:42694387-42694389 8:42839244-42839246
6 THAP1 NM_018105.3(THAP1):c.331C>T (p.Gln111Ter)SNV Pathogenic 654563 8:42693416-42693416 8:42838273-42838273
7 THAP1 NM_018105.3(THAP1):c.71del (p.Lys24fs)deletion Pathogenic 845954 8:42698167-42698167 8:42843024-42843024
8 THAP1 NM_018105.3(THAP1):c.112del (p.Ala38fs)deletion Pathogenic 807516 8:42694484-42694484 8:42839341-42839341
9 THAP1 NM_018105.3(THAP1):c.266A>G (p.Lys89Arg)SNV Pathogenic 1648 rs267607111 8:42694330-42694330 8:42839187-42839187
10 THAP1 NM_018105.3(THAP1):c.384_385TC[2] (p.Val131fs)short repeat Pathogenic 1649 8:42693358-42693359 8:42838215-42838216
11 THAP1 NM_018105.3(THAP1):c.474del (p.Lys158fs)deletion Pathogenic 1650 8:42693273-42693273 8:42838130-42838130
12 THAP1 NM_018105.3(THAP1):c.25G>T (p.Gly9Cys)SNV Pathogenic 1651 rs267607112 8:42698213-42698213 8:42843070-42843070
13 THAP1 NM_018105.3(THAP1):c.70A>G (p.Lys24Glu)SNV Pathogenic 31631 rs387907176 8:42698168-42698168 8:42843025-42843025
14 THAP1 NM_018105.3(THAP1):c.68A>C (p.His23Pro)SNV Pathogenic 31632 rs387907177 8:42698170-42698170 8:42843027-42843027
15 THAP1 NM_018105.3(THAP1):c.460del (p.Gln154fs)deletion Pathogenic 1647 8:42693287-42693287 8:42838144-42838144
16 THAP1 THAP1, 5-BP INS/3-BP DEL, NT134indel Pathogenic 1645
17 THAP1 NM_018105.3(THAP1):c.62C>T (p.Ser21Phe)SNV Pathogenic/Likely pathogenic 425441 rs1064797344 8:42698176-42698176 8:42843033-42843033
18 THAP1 NM_018105.3(THAP1):c.505C>T (p.Arg169Ter)SNV Likely pathogenic 429366 rs1131691345 8:42693242-42693242 8:42838099-42838099
19 THAP1 NM_018105.3(THAP1):c.2T>C (p.Met1Thr)SNV Likely pathogenic 582441 rs1563646198 8:42698236-42698236 8:42843093-42843093
20 THAP1 NM_018105.3(THAP1):c.14G>A (p.Cys5Tyr)SNV Likely pathogenic 807708 8:42698224-42698224 8:42843081-42843081
21 THAP1 NM_018105.3(THAP1):c.77C>T (p.Pro26Leu)SNV Likely pathogenic 846905 8:42694519-42694519 8:42839376-42839376
22 THAP1 NM_018105.3(THAP1):c.25G>A (p.Gly9Ser)SNV Likely pathogenic 692056 8:42698213-42698213 8:42843070-42843070
23 THAP1 NM_018105.3(THAP1):c.267+6A>GSNV Conflicting interpretations of pathogenicity 653740 8:42694323-42694323 8:42839180-42839180
24 THAP1 NM_018105.3(THAP1):c.72-10_72-9delinsGCindel Uncertain significance 651723 8:42694533-42694534 8:42839390-42839391
25 THAP1 NM_018105.3(THAP1):c.-34G>ASNV Uncertain significance 692215 8:42698271-42698271 8:42843128-42843128
26 THAP1 NM_018105.3(THAP1):c.-118G>ASNV Uncertain significance 909497 8:42698355-42698355 8:42843212-42843212
27 THAP1 NM_018105.3(THAP1):c.403C>T (p.His135Tyr)SNV Uncertain significance 863325 8:42693344-42693344 8:42838201-42838201
28 THAP1 NM_018105.3(THAP1):c.*1138T>ASNV Uncertain significance 908574 8:42691967-42691967 8:42836824-42836824
29 THAP1 NM_018105.3(THAP1):c.*877A>GSNV Uncertain significance 909431 8:42692228-42692228 8:42837085-42837085
30 THAP1 NM_018105.3(THAP1):c.*835A>GSNV Uncertain significance 909432 8:42692270-42692270 8:42837127-42837127
31 THAP1 NM_018105.3(THAP1):c.*795A>GSNV Uncertain significance 909433 8:42692310-42692310 8:42837167-42837167
32 THAP1 NM_018105.3(THAP1):c.*777A>GSNV Uncertain significance 909434 8:42692328-42692328 8:42837185-42837185
33 THAP1 NM_018105.3(THAP1):c.*598A>GSNV Uncertain significance 910380 8:42692507-42692507 8:42837364-42837364
34 THAP1 NM_018105.3(THAP1):c.*156A>GSNV Uncertain significance 910381 8:42692949-42692949 8:42837806-42837806
35 THAP1 NM_018105.3(THAP1):c.*139A>GSNV Uncertain significance 911592 8:42692966-42692966 8:42837823-42837823
36 THAP1 NM_018105.3(THAP1):c.*137C>ASNV Uncertain significance 911593 8:42692968-42692968 8:42837825-42837825
37 THAP1 NM_018105.3(THAP1):c.506G>A (p.Arg169Gln)SNV Uncertain significance 521683 rs767519301 8:42693241-42693241 8:42838098-42838098
38 THAP1 NM_018105.3(THAP1):c.164C>T (p.Ser55Leu)SNV Uncertain significance 661711 8:42694432-42694432 8:42839289-42839289
39 THAP1 NM_018105.3(THAP1):c.43_45del (p.Asp15del)deletion Uncertain significance 567899 rs1478723907 8:42698193-42698195 8:42843050-42843052
40 THAP1 NM_018105.3(THAP1):c.140_142CCA[1] (p.Thr48del)short repeat Uncertain significance 573861 rs1563644832 8:42694451-42694453 8:42839308-42839310
41 THAP1 NM_018105.3(THAP1):c.238A>G (p.Ile80Val)SNV Uncertain significance 444751 rs372080941 8:42694358-42694358 8:42839215-42839215
42 THAP1 NM_018105.3(THAP1):c.161G>C (p.Cys54Ser)SNV Uncertain significance 463442 rs1554599707 8:42694435-42694435 8:42839292-42839292
43 THAP1 NM_018105.3(THAP1):c.149A>G (p.Tyr50Cys)SNV Uncertain significance 463441 rs1554599710 8:42694447-42694447 8:42839304-42839304
44 THAP1 NM_018105.3(THAP1):c.241T>C (p.Phe81Leu)SNV Uncertain significance 1646 rs118204013 8:42694355-42694355 8:42839212-42839212
45 THAP1 NM_018105.3(THAP1):c.*141A>GSNV Uncertain significance 363121 rs745429614 8:42692964-42692964 8:42837821-42837821
46 THAP1 NM_018105.3(THAP1):c.-15C>TSNV Uncertain significance 363127 rs771561925 8:42698252-42698252 8:42843109-42843109
47 THAP1 NM_018105.3(THAP1):c.427A>G (p.Met143Val)SNV Uncertain significance 225489 rs374512193 8:42693320-42693320 8:42838177-42838177
48 THAP1 NM_018105.3(THAP1):c.*999G>ASNV Uncertain significance 363110 rs558640226 8:42692106-42692106 8:42836963-42836963
49 THAP1 NM_018105.3(THAP1):c.-101C>GSNV Uncertain significance 363130 rs886062949 8:42698338-42698338 8:42843195-42843195
50 THAP1 NM_018105.3(THAP1):c.*1032G>ASNV Uncertain significance 363109 rs886062944 8:42692073-42692073 8:42836930-42836930

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

3 CDC
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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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