Dystonia 6, Torsion disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Muscle diseases

See all MalaCards categories (disease lists)

ICD10: ³³ ³⁴

Diseases of the nervous system

Extrapyramidal and movement disorders

Dystonia

Idiopathic familial dystonia

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

SNOMED-CT via HPO ⁶⁹ 263681008 270476009 70070008 more

UMLS ⁷³ C1414216

Sources

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.

Sources

Related Diseases for Dystonia 6, Torsion

Diseases in the Dystonia 7, Torsion family:

Dystonia 1, Torsion, Autosomal Dominant	Dystonia 4, Torsion, Autosomal Dominant
Dystonia 2, Torsion, Autosomal Recessive	Torsion Dystonia with Onset in Infancy
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:

#	Related Disease	Score	Top Affiliating Genes
1	adolescent-onset dystonia of mixed type	11.5
2	dystonia	9.9

Sources

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

Sources

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

Sources

Genetic Tests for Dystonia 6, Torsion

Genetic tests related to Dystonia 6, Torsion:

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

Sources

Anatomical Context for Dystonia 6, Torsion

MalaCards organs/tissues related to Dystonia 6, Torsion:

⁴¹

Tongue

Sources

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 )	Miyamoto R....Kaji R.	2012

Sources

Genes for Dystonia 6, Torsion

Genes related to Dystonia 6, Torsion (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	THAP1	THAP Domain Containing 1	Protein Coding	1700.32	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Publications Gene name Variants (show sections)	19182804 20482602 19345147 (more) 20083799 19345148 21847143

Sources

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

Sources

Expression for Dystonia 6, Torsion

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

Sources

Pathways for Dystonia 6, Torsion

Sources

GO Terms for Dystonia 6, Torsion

Sources

Sources for Dystonia 6, Torsion

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia