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

DYT6 MCID: DYS067 MIFTS: 37	Dystonia 6, Torsion (DYT6) Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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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:

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

See all MalaCards categories (disease lists)

ICD10: ³² ³³

Diseases of the nervous system

Extrapyramidal and movement disorders

Dystonia

Idiopathic familial dystonia

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

SNOMED-CT via HPO ⁶⁸ 127324008 17450006 22451001 more

UMLS ⁷¹ C1414216

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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)

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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:

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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

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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

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Genetic Tests for Dystonia 6, Torsion

Genetic tests related to Dystonia 6, Torsion:

#	Genetic test	Affiliating Genes
1	Torsion Dystonia 6 ²⁹	THAP1

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Anatomical Context for Dystonia 6, Torsion

MalaCards organs/tissues related to Dystonia 6, Torsion:

⁴⁰

Tongue

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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	Lohmann K...Bruggemann N	21847143	2012
2	Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. ⁵⁶ ⁶	Bressman SB...Saunders-Pullman R	19345147	2009
3	Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study. ⁵⁶ ⁶	Djarmati A...Klein C	19345148	2009
4	Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. ⁶ ⁵⁶	Fuchs T...Ozelius LJ	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	Blanchard A...Collod-Beroud G	21793105	2011
6	Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype. ⁵⁶	Clot F...Brice A	21110056	2011
7	EFNS guidelines on diagnosis and treatment of primary dystonias. ⁶	Albanese A...Valls-Sole J	20482602	2011
8	THAP1 mutations (DYT6) are an additional cause of early-onset dystonia. ⁵⁶	Houlden H...Bhatia KP	20211909	2010
9	Novel THAP1 sequence variants in primary dystonia. ⁵⁶	Xiao J...LeDoux MS	20083799	2010
10	Abnormal striatal and thalamic dopamine neurotransmission: Genotype-related features of dystonia. ⁵⁶	Carbon M...Eidelberg D	19528516	2009
11	Narrowing the DYT6 dystonia region and evidence for locus heterogeneity in the Amish-Mennonites. ⁵⁶	Saunders-Pullman R...Bressman S	17702011	2007
12	Regional metabolism in primary torsion dystonia: effects of penetrance and genotype. ⁵⁶	Carbon M...Eidelberg D	15111678	2004
13	Hereditary Dystonia Overview ⁶	Klein C...Munchau A	20301334	2003
14	Clinical and molecular genetics of primary dystonias. ⁵⁶	Muller U...Nemeth AH	10737119	1998
15	Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families. ⁵⁶	Almasy L...Nygaard TG	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	Miyamoto R...Kaji R	22821615	2012

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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	1695.66	Molecular basis known ⁵⁶ Pathogenic/Likely pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Gene name Variants (show sections)	19345147 19182804 19345148 (more) 20482602 20301334 21847143
2	HOOK3	Hook Microtubule Tethering Protein 3	Protein Coding	6.71	DISEASES inferred ¹⁵
3	FNTA	Farnesyltransferase, CAAX Box, Alpha	Protein Coding	6.61	DISEASES inferred ¹⁵
4	HGSNAT	Heparan-Alpha-Glucosaminide N-Acetyltransferase	Protein Coding	6.56	DISEASES inferred ¹⁵
5	CIZ1	CDKN1A Interacting Zinc Finger Protein 1	Protein Coding	6.51	DISEASES inferred ¹⁵
6	HPCA	Hippocalcin	Protein Coding	6.5	DISEASES inferred ¹⁵

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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, NT134	indel	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>G	SNV	Conflicting interpretations of pathogenicity	653740		8:42694323-42694323	8:42839180-42839180
24	THAP1	NM_018105.3(THAP1):c.72-10_72-9delinsGC	indel	Uncertain significance	651723		8:42694533-42694534	8:42839390-42839391
25	THAP1	NM_018105.3(THAP1):c.-34G>A	SNV	Uncertain significance	692215		8:42698271-42698271	8:42843128-42843128
26	THAP1	NM_018105.3(THAP1):c.-118G>A	SNV	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>A	SNV	Uncertain significance	908574		8:42691967-42691967	8:42836824-42836824
29	THAP1	NM_018105.3(THAP1):c.*877A>G	SNV	Uncertain significance	909431		8:42692228-42692228	8:42837085-42837085
30	THAP1	NM_018105.3(THAP1):c.*835A>G	SNV	Uncertain significance	909432		8:42692270-42692270	8:42837127-42837127
31	THAP1	NM_018105.3(THAP1):c.*795A>G	SNV	Uncertain significance	909433		8:42692310-42692310	8:42837167-42837167
32	THAP1	NM_018105.3(THAP1):c.*777A>G	SNV	Uncertain significance	909434		8:42692328-42692328	8:42837185-42837185
33	THAP1	NM_018105.3(THAP1):c.*598A>G	SNV	Uncertain significance	910380		8:42692507-42692507	8:42837364-42837364
34	THAP1	NM_018105.3(THAP1):c.*156A>G	SNV	Uncertain significance	910381		8:42692949-42692949	8:42837806-42837806
35	THAP1	NM_018105.3(THAP1):c.*139A>G	SNV	Uncertain significance	911592		8:42692966-42692966	8:42837823-42837823
36	THAP1	NM_018105.3(THAP1):c.*137C>A	SNV	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>G	SNV	Uncertain significance	363121	rs745429614	8:42692964-42692964	8:42837821-42837821
46	THAP1	NM_018105.3(THAP1):c.-15C>T	SNV	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>A	SNV	Uncertain significance	363110	rs558640226	8:42692106-42692106	8:42836963-42836963
49	THAP1	NM_018105.3(THAP1):c.-101C>G	SNV	Uncertain significance	363130	rs886062949	8:42698338-42698338	8:42843195-42843195
50	THAP1	NM_018105.3(THAP1):c.*1032G>A	SNV	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

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

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⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Dystonia 6, Torsion (DYT6)

Aliases & Classifications for Dystonia 6, Torsion

MalaCards integrated aliases for Dystonia 6, Torsion:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Dystonia 6, Torsion

Related Diseases for Dystonia 6, Torsion

Diseases in the Torsion Dystonia with Onset in Infancy family:

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

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

Symptoms & Phenotypes for Dystonia 6, Torsion

Human phenotypes related to Dystonia 6, Torsion:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Dystonia 6, Torsion:

Drugs & Therapeutics for Dystonia 6, Torsion

Interventional clinical trials:

Genetic Tests for Dystonia 6, Torsion

Genetic tests related to Dystonia 6, Torsion:

Anatomical Context for Dystonia 6, Torsion

MalaCards organs/tissues related to Dystonia 6, Torsion:

Publications for Dystonia 6, Torsion

Articles related to Dystonia 6, Torsion:

Genes for Dystonia 6, Torsion

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

Variations for Dystonia 6, Torsion

ClinVar genetic disease variations for Dystonia 6, Torsion:

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

Expression for Dystonia 6, Torsion

Pathways for Dystonia 6, Torsion

GO Terms for Dystonia 6, Torsion

Sources for Dystonia 6, Torsion