MCID: DYS067
MIFTS: 28

Dystonia 6, Torsion

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

Aliases & Classifications for Dystonia 6, Torsion

MalaCards integrated aliases for Dystonia 6, Torsion:

Name: Dystonia 6, Torsion 57 75 29 13 6 73
Dyt6 57 59 75
Torsion Dystonia 6 12 15
Generalized Cervical and Upper-Limb-Onset Dystonia 59
Torsion Dystonia, Adult-Onset, Mixed Type 57
Idiopathic Torsion Dystonia of Mixed Type 59
Adult-Onset Torsion Dystonia Mixed Type 75
Autosomal Dominant Torsion Dystonia 6 75
Primary Dystonia, Dyt6 Type 59
Dystonia, Type 6, Torsion 40
Torsion Dystonia Type 6 75
Dystonia-6 75

Characteristics:

Orphanet epidemiological data:

59
primary dystonia, dyt6 type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood;

OMIM:

57
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:

32
dystonia 6, torsion:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 602629
Disease Ontology 12 DOID:0090039
ICD10 33 G24.1
Orphanet 59 ORPHA98806
UMLS via Orphanet 74 C1414216
ICD10 via Orphanet 34 G24.1
MedGen 42 C1414216
MeSH 44 D004421
UMLS 73 C1414216

Summaries for Dystonia 6, Torsion

UniProtKB/Swiss-Prot : 75 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 adolescent-onset dystonia of mixed type and dystonia, 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 dysarthria and torticollis

OMIM : 57 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)

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

Related Diseases for Dystonia 6, Torsion

Symptoms & Phenotypes for Dystonia 6, Torsion

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Dystonia 6, Torsion:

59 32 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 59 32 Frequent (79-30%) HP:0001260
2 torticollis 59 32 Occasional (29-5%) HP:0000473
3 limb dystonia 59 32 Very rare (<4-1%) HP:0002451
4 laryngeal dystonia 59 32 Occasional (29-5%) HP:0012049
5 lingual dystonia 59 32 Occasional (29-5%) HP:0031008
6 dysphonia 32 HP:0001618
7 myoclonus 32 occasional (7.5%) HP:0001336
8 dystonia 59 Very frequent (99-80%)
9 blepharospasm 59 Occasional (29-5%)
10 oromandibular dystonia 32 HP:0012048
11 writer's cramp 32 HP:0002356
12 generalized dystonia 59 Very frequent (99-80%)
13 torsion dystonia 32 HP:0001304
14 abnormality of the head 32 HP:0000234
15 craniofacial dystonia 59 Occasional (29-5%)

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 Dystonia Genotype-Phenotype Correlation Recruiting NCT03428009

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:

41
Tongue

Publications for Dystonia 6, Torsion

Articles related to Dystonia 6, Torsion:

# Title Authors Year
1
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. ( 22821615 )
2012

Variations for Dystonia 6, Torsion

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

75 (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

ClinVar genetic disease variations for Dystonia 6, Torsion:

6
(show all 36)
# Gene Variation Type Significance SNP ID Assembly Location
1 THAP1 THAP1, 5-BP INS/3-BP DEL, NT134 indel Pathogenic
2 THAP1 NM_018105.2(THAP1): c.241T> C (p.Phe81Leu) single nucleotide variant Pathogenic rs118204013 GRCh37 Chromosome 8, 42694355: 42694355
3 THAP1 NM_018105.2(THAP1): c.241T> C (p.Phe81Leu) single nucleotide variant Pathogenic rs118204013 GRCh38 Chromosome 8, 42839212: 42839212
4 THAP1 THAP1, 1-BP DEL, 460C deletion Pathogenic
5 THAP1 NM_018105.2(THAP1): c.266A> G (p.Lys89Arg) single nucleotide variant Pathogenic rs267607111 GRCh37 Chromosome 8, 42694330: 42694330
6 THAP1 NM_018105.2(THAP1): c.266A> G (p.Lys89Arg) single nucleotide variant Pathogenic rs267607111 GRCh38 Chromosome 8, 42839187: 42839187
7 THAP1 THAP1, 2-BP DEL, 388TC deletion Pathogenic
8 THAP1 THAP1, 1-BP DEL, 474A deletion Pathogenic
9 THAP1 NM_018105.2(THAP1): c.25G> T (p.Gly9Cys) single nucleotide variant Pathogenic rs267607112 GRCh37 Chromosome 8, 42698213: 42698213
10 THAP1 NM_018105.2(THAP1): c.25G> T (p.Gly9Cys) single nucleotide variant Pathogenic rs267607112 GRCh38 Chromosome 8, 42843070: 42843070
11 THAP1 NM_018105.2(THAP1): c.70A> G (p.Lys24Glu) single nucleotide variant Pathogenic rs387907176 GRCh37 Chromosome 8, 42698168: 42698168
12 THAP1 NM_018105.2(THAP1): c.70A> G (p.Lys24Glu) single nucleotide variant Pathogenic rs387907176 GRCh38 Chromosome 8, 42843025: 42843025
13 THAP1 NM_018105.2(THAP1): c.68A> C (p.His23Pro) single nucleotide variant Pathogenic rs387907177 GRCh37 Chromosome 8, 42698170: 42698170
14 THAP1 NM_018105.2(THAP1): c.68A> C (p.His23Pro) single nucleotide variant Pathogenic rs387907177 GRCh38 Chromosome 8, 42843027: 42843027
15 THAP1 NM_018105.2(THAP1): c.427A> G (p.Met143Val) single nucleotide variant Uncertain significance rs374512193 GRCh37 Chromosome 8, 42693320: 42693320
16 THAP1 NM_018105.2(THAP1): c.427A> G (p.Met143Val) single nucleotide variant Uncertain significance rs374512193 GRCh38 Chromosome 8, 42838177: 42838177
17 THAP1 NM_018105.2(THAP1): c.71+9C> A single nucleotide variant Benign/Likely benign rs200209986 GRCh37 Chromosome 8, 42698158: 42698158
18 THAP1 NM_018105.2(THAP1): c.71+9C> A single nucleotide variant Benign/Likely benign rs200209986 GRCh38 Chromosome 8, 42843015: 42843015
19 THAP1 NM_018105.2(THAP1): c.421G> A (p.Asp141Asn) single nucleotide variant Benign/Likely benign rs138345513 GRCh38 Chromosome 8, 42838183: 42838183
20 THAP1 NM_018105.2(THAP1): c.421G> A (p.Asp141Asn) single nucleotide variant Benign/Likely benign rs138345513 GRCh37 Chromosome 8, 42693326: 42693326
21 THAP1 NM_018105.2(THAP1): c.268-4T> A single nucleotide variant Uncertain significance rs755416189 GRCh38 Chromosome 8, 42838340: 42838340
22 THAP1 NM_018105.2(THAP1): c.268-4T> A single nucleotide variant Uncertain significance rs755416189 GRCh37 Chromosome 8, 42693483: 42693483
23 THAP1 NM_018105.2(THAP1): c.161G> C (p.Cys54Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 8, 42839292: 42839292
24 THAP1 NM_018105.2(THAP1): c.161G> C (p.Cys54Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 8, 42694435: 42694435
25 THAP1 NM_018105.2(THAP1): c.363G> A (p.Pro121=) single nucleotide variant Likely benign rs202128051 GRCh37 Chromosome 8, 42693384: 42693384
26 THAP1 NM_018105.2(THAP1): c.363G> A (p.Pro121=) single nucleotide variant Likely benign rs202128051 GRCh38 Chromosome 8, 42838241: 42838241
27 THAP1 NM_018105.2(THAP1): c.149A> G (p.Tyr50Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 8, 42694447: 42694447
28 THAP1 NM_018105.2(THAP1): c.149A> G (p.Tyr50Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 8, 42839304: 42839304
29 THAP1 NM_018105.2(THAP1): c.577G> A (p.Val193Ile) single nucleotide variant Benign rs756694303 GRCh38 Chromosome 8, 42838027: 42838027
30 THAP1 NM_018105.2(THAP1): c.577G> A (p.Val193Ile) single nucleotide variant Benign rs756694303 GRCh37 Chromosome 8, 42693170: 42693170
31 THAP1 NM_018105.2(THAP1): c.289C> T (p.Gln97Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 8, 42693458: 42693458
32 THAP1 NM_018105.2(THAP1): c.289C> T (p.Gln97Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 8, 42838315: 42838315
33 THAP1 NM_018105.2(THAP1): c.7C> T (p.Gln3Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 8, 42843088: 42843088
34 THAP1 NM_018105.2(THAP1): c.7C> T (p.Gln3Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 8, 42698231: 42698231
35 THAP1 NM_018105.2(THAP1): c.131delA (p.Asn44Thrfs) deletion Pathogenic GRCh37 Chromosome 8, 42694465: 42694465
36 THAP1 NM_018105.2(THAP1): c.131delA (p.Asn44Thrfs) deletion Pathogenic GRCh38 Chromosome 8, 42839322: 42839322

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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10 dbSNP
11 DGIdb
17 ExPASy
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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