MCID: DYS067
MIFTS: 28

Dystonia 6, Torsion

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

Aliases & Classifications for Dystonia 6, Torsion

MalaCards integrated aliases for Dystonia 6, Torsion:

Name: Dystonia 6, Torsion 53 71 28 13 69
Dyt6 53 55 71
Torsion Dystonia 6 12 14
Generalized Cervical and Upper-Limb-Onset Dystonia 55
Torsion Dystonia, Adult-Onset, Mixed Type 53
Idiopathic Torsion Dystonia of Mixed Type 55
Adult-Onset Torsion Dystonia Mixed Type 71
Autosomal Dominant Torsion Dystonia 6 71
Primary Dystonia, Dyt6 Type 55
Torsion Dystonia Type 6 71
Dystonia-6 71

Characteristics:

Orphanet epidemiological data:

55
primary dystonia, dyt6 type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood;

OMIM:

53
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:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

OMIM 53 602629
Disease Ontology 12 DOID:0090039
ICD10 32 G24.1
Orphanet 55 ORPHA98806
UMLS via Orphanet 70 C1414216
ICD10 via Orphanet 33 G24.1
MedGen 39 C1414216
MeSH 41 D004421
UMLS 69 C1414216

Summaries for Dystonia 6, Torsion

UniProtKB/Swiss-Prot : 71 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 myoclonus, torticollis and oromandibular dystonia. An important gene associated with Dystonia 6, Torsion is THAP1 (THAP Domain Containing 1). Affiliated tissues include tongue.

OMIM : 53 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:

53
Head And Neck Neck:
torticollis

Neurologic Central Nervous System:
dysarthria
dysphonia
torsion dystonia
writer's cramp
dystonia, trunk and limbs (upper and lower)
more
Head And Neck Face:
facial dystonia
jaw dystonia

Skeletal Limbs:
dystonia, upper and lower limbs

Head And Neck Mouth:
tongue dystonia

Respiratory Larynx:
laryngeal dystonia

Head And Neck Head:
cranial dystonia


Clinical features from OMIM:

602629

Human phenotypes related to Dystonia 6, Torsion:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 myoclonus 31 occasional (7.5%) HP:0001336
2 torticollis 31 HP:0000473
3 oromandibular dystonia 31 HP:0012048
4 dysarthria 31 HP:0001260
5 torsion dystonia 31 HP:0001304
6 limb dystonia 31 HP:0002451
7 abnormality of the head 31 HP:0000234
8 writer's cramp 31 HP:0002356
9 laryngeal dystonia 31 HP:0012049
10 lingual dystonia 31 HP:0031008

UMLS symptoms related to Dystonia 6, Torsion:


lingual dystonia, torticollis

Drugs & Therapeutics for Dystonia 6, Torsion

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Dystonia Genotype-Phenotype Correlation Not yet 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 28 THAP1

Anatomical Context for Dystonia 6, Torsion

MalaCards organs/tissues related to Dystonia 6, Torsion:

38
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:

71 (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
# Gene Variation Type Significance SNP ID Assembly Location
1 THAP1 NM_018105.2(THAP1): c.70A> G (p.Lys24Glu) single nucleotide variant Pathogenic rs387907176 GRCh37 Chromosome 8, 42698168: 42698168
2 THAP1 NM_018105.2(THAP1): c.68A> C (p.His23Pro) single nucleotide variant Pathogenic rs387907177 GRCh37 Chromosome 8, 42698170: 42698170
3 THAP1 THAP1, 1-BP DEL, 474A deletion Pathogenic
4 THAP1 THAP1, 2-BP DEL, 388TC deletion Pathogenic
5 THAP1 THAP1, 5-BP INS/3-BP DEL, NT134 indel Pathogenic
6 THAP1 NM_018105.2(THAP1): c.241T> C (p.Phe81Leu) single nucleotide variant Pathogenic rs118204013 GRCh37 Chromosome 8, 42694355: 42694355
7 THAP1 THAP1, 1-BP DEL, 460C deletion Pathogenic
8 THAP1 NM_018105.2(THAP1): c.266A> G (p.Lys89Arg) single nucleotide variant Pathogenic rs267607111 GRCh37 Chromosome 8, 42694330: 42694330
9 THAP1 NM_018105.2(THAP1): c.25G> T (p.Gly9Cys) single nucleotide variant Pathogenic rs267607112 GRCh37 Chromosome 8, 42698213: 42698213

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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....