Aliases & Classifications for Dyt-Thap1

MalaCards integrated aliases for Dyt-Thap1:

Name: Dyt-Thap1 20
Torsion Dystonia Adult Onset Mixed Type 20 6
Dystonia 6 20 43
Dyt6 20 43
Idiopathic Torsion Dystonia of Mixed Type 43
Adolescent-Onset Dystonia of Mixed Type 20
Primary Dystonia, Dyt6 Type 43
Torsion Dystonia 6 43
Thap1 Dystonia 43
Dyt6 Dystonia 43

Classifications:



Summaries for Dyt-Thap1

MedlinePlus Genetics : 43 Dystonia 6 is one of many forms of dystonia, which is a group of conditions characterized by involuntary movements, twisting (torsion) and tensing of various muscles, and unusual positioning of affected body parts. Dystonia 6 can appear at any age from childhood through adulthood; the average age of onset is 18.The signs and symptoms of dystonia 6 vary among affected individuals. The disorder usually first impacts muscles of the head and neck, causing problems with speaking (dysarthria) and eating (dysphagia). Eyelid twitching (blepharospasm) may also occur. Involvement of one or more limbs is common, and in some cases occurs before the head and neck problems. Dystonia 6 gradually gets worse, and it may eventually involve most of the body.

MalaCards based summary : Dyt-Thap1, also known as torsion dystonia adult onset mixed type, is related to dystonia 6, torsion and dystonia 1, torsion, autosomal dominant. An important gene associated with Dyt-Thap1 is THAP1 (THAP Domain Containing 1). Related phenotypes are generalized dystonia and dysarthria

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 98806DefinitionPrimary dystonia DYT6 type is characterized by focal, predominantly cranio-cervical dystonia with dysarthria and dysphagia, or limb dystonia in some cases.EpidemiologyIt has been reported in two Amish-Mennonite families.Clinical descriptionAdolescent and early-adult onset have been reported (average age of onset 19 years). The disease rarely progresses to generalized dystonia.EtiologyDYT6 is caused by mutations in the THAP1 gene (on chromosome 8).Genetic counselingDYT6 is transmitted as an autosomal dominant trait.Visit the Orphanet disease page for more resources.

Related Diseases for Dyt-Thap1

Graphical network of the top 20 diseases related to Dyt-Thap1:



Diseases related to Dyt-Thap1

Symptoms & Phenotypes for Dyt-Thap1

Human phenotypes related to Dyt-Thap1:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 generalized dystonia 31 hallmark (90%) HP:0007325
2 dysarthria 31 frequent (33%) HP:0001260
3 blepharospasm 31 occasional (7.5%) HP:0000643
4 torticollis 31 occasional (7.5%) HP:0000473
5 laryngeal dystonia 31 occasional (7.5%) HP:0012049
6 lingual dystonia 31 occasional (7.5%) HP:0031008
7 limb dystonia 31 very rare (1%) HP:0002451

Drugs & Therapeutics for Dyt-Thap1

Search Clinical Trials , NIH Clinical Center for Dyt-Thap1

Genetic Tests for Dyt-Thap1

Anatomical Context for Dyt-Thap1

Publications for Dyt-Thap1

Articles related to Dyt-Thap1:

(show all 14)
# Title Authors PMID Year
1
Identification and functional analysis of novel THAP1 mutations. 6
21847143 2012
2
Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study. 6
19345148 2009
3
Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. 6
19345147 2009
4
Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. 6
19182804 2009
5
Linking Penetrance and Transcription in DYT-THAP1: Insights From a Human iPSC-Derived Cortical Model. 61
33547842 2021
6
Genotype-Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review. 61
33502045 2021
7
Mutational spectrum of GNAL, THAP1 and TOR1A genes in isolated dystonia: study in a population from Spain and systematic literature review. 61
33175450 2020
8
Isolated dystonia: clinical and genetic updates. 61
33247415 2020
9
Late adulthood onset DYT-THAP1 secondary to a novel splice site mutation-A report from India. 61
32683277 2020
10
Pallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome. 61
33488508 2020
11
Pallidal Deep Brain Stimulation in DYT6 Dystonia: Clinical Outcome and Predictive Factors for Motor Improvement. 61
31817799 2019
12
Cerebellar Involvement in DYT-THAP1 Dystonia. 61
31367947 2019
13
Generation and characterization of eight human-derived iPSC lines from affected and unaffected THAP1 mutation carriers. 61
30316041 2018
14
Inherited dystonias: clinical features and molecular pathways. 61
29325615 2018

Variations for Dyt-Thap1

ClinVar genetic disease variations for Dyt-Thap1:

6 (show top 50) (show all 89)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 THAP1 NM_018105.3(THAP1):c.460del (p.Gln154fs) Deletion Pathogenic 1647 rs1586456293 8:42693287-42693287 8:42838144-42838144
2 THAP1 NM_018105.3(THAP1):c.266A>G (p.Lys89Arg) SNV Pathogenic 1648 rs267607111 8:42694330-42694330 8:42839187-42839187
3 THAP1 NM_018105.3(THAP1):c.384_385TC[2] (p.Val131fs) Microsatellite Pathogenic 1649 rs1586456350 8:42693358-42693359 8:42838215-42838216
4 THAP1 NM_018105.3(THAP1):c.474del (p.Lys158fs) Deletion Pathogenic 1650 rs1586456278 8:42693273-42693273 8:42838130-42838130
5 THAP1 NM_018105.3(THAP1):c.25G>T (p.Gly9Cys) SNV Pathogenic 1651 rs267607112 8:42698213-42698213 8:42843070-42843070
6 THAP1 NM_018105.3(THAP1):c.70A>G (p.Lys24Glu) SNV Pathogenic 31631 rs387907176 8:42698168-42698168 8:42843025-42843025
7 THAP1 NM_018105.3(THAP1):c.68A>C (p.His23Pro) SNV Pathogenic 31632 rs387907177 8:42698170-42698170 8:42843027-42843027
8 THAP1 THAP1, 5-BP INS/3-BP DEL, NT134 Indel Pathogenic 1645
9 THAP1 NM_018105.3(THAP1):c.131del (p.Asn44fs) Deletion Pathogenic 532261 rs1554599712 8:42694465-42694465 8:42839322-42839322
10 THAP1 NM_018105.3(THAP1):c.289C>T (p.Gln97Ter) SNV Pathogenic 532262 rs1554599616 8:42693458-42693458 8:42838315-42838315
11 THAP1 NM_018105.3(THAP1):c.7C>T (p.Gln3Ter) SNV Pathogenic 532263 rs1554599983 8:42698231-42698231 8:42843088-42843088
12 THAP1 NM_018105.3(THAP1):c.305dup (p.Pro103fs) Duplication Pathogenic 568461 rs1563644456 8:42693441-42693442 8:42838298-42838299
13 THAP1 NM_018105.3(THAP1):c.201_203CAA[2] (p.Asn69del) Microsatellite Pathogenic 569769 rs1563644810 8:42694387-42694389 8:42839244-42839246
14 THAP1 NM_018105.3(THAP1):c.331C>T (p.Gln111Ter) SNV Pathogenic 654563 rs1586456404 8:42693416-42693416 8:42838273-42838273
15 THAP1 NM_018105.3(THAP1):c.112del (p.Ala38fs) Deletion Pathogenic 807516 rs1586457084 8:42694484-42694484 8:42839341-42839341
16 THAP1 NM_018105.3(THAP1):c.71del (p.Lys24fs) Deletion Pathogenic 845954 8:42698167-42698167 8:42843024-42843024
17 THAP1 NM_018105.2(THAP1):c.270_273delAGAA (p.Glu91Ilefs) Microsatellite Pathogenic 444750 rs749414480 8:42693474-42693477 8:42838331-42838334
18 THAP1 NM_018105.3(THAP1):c.135_139delinsGGGTTTA (p.Phe45fs) Indel Pathogenic 817036 rs1586457060 8:42694457-42694461 8:42839314-42839318
19 THAP1 NM_018105.3(THAP1):c.268-1G>C SNV Likely pathogenic 976034 8:42693480-42693480 8:42838337-42838337
20 THAP1 NM_018105.3(THAP1):c.86G>C (p.Arg29Pro) SNV Likely pathogenic 964891 8:42694510-42694510 8:42839367-42839367
21 THAP1 NM_018105.3(THAP1):c.387_399del (p.Ser130fs) Deletion Likely pathogenic 931879 8:42693348-42693360 8:42838205-42838217
22 THAP1 NM_018105.3(THAP1):c.77C>T (p.Pro26Leu) SNV Likely pathogenic 846905 8:42694519-42694519 8:42839376-42839376
23 THAP1 NM_018105.3(THAP1):c.14G>A (p.Cys5Tyr) SNV Likely pathogenic 807708 rs1586459413 8:42698224-42698224 8:42843081-42843081
24 THAP1 NM_018105.3(THAP1):c.25G>A (p.Gly9Ser) SNV Likely pathogenic 692056 rs267607112 8:42698213-42698213 8:42843070-42843070
25 THAP1 NM_018105.3(THAP1):c.505C>T (p.Arg169Ter) SNV Likely pathogenic 429366 rs1131691345 8:42693242-42693242 8:42838099-42838099
26 THAP1 NM_018105.3(THAP1):c.2T>C (p.Met1Thr) SNV Likely pathogenic 582441 rs1563646198 8:42698236-42698236 8:42843093-42843093
27 THAP1 NM_018105.3(THAP1):c.62C>T (p.Ser21Phe) SNV Likely pathogenic 425441 rs1064797344 8:42698176-42698176 8:42843033-42843033
28 THAP1 NM_018105.3(THAP1):c.267+6A>G SNV Conflicting interpretations of pathogenicity 653740 rs373843959 8:42694323-42694323 8:42839180-42839180
29 THAP1 NM_018105.3(THAP1):c.164C>T (p.Ser55Leu) SNV Uncertain significance 661711 rs1586457027 8:42694432-42694432 8:42839289-42839289
30 THAP1 NM_018105.3(THAP1):c.506G>A (p.Arg169Gln) SNV Uncertain significance 521683 rs767519301 8:42693241-42693241 8:42838098-42838098
31 THAP1 NM_018105.3(THAP1):c.72-10_72-9delinsGC Indel Uncertain significance 651723 rs1586457124 8:42694533-42694534 8:42839390-42839391
32 THAP1 NM_018105.3(THAP1):c.140_142CCA[1] (p.Thr48del) Microsatellite Uncertain significance 573861 rs1563644832 8:42694451-42694453 8:42839308-42839310
33 THAP1 NM_018105.3(THAP1):c.43_45del (p.Asp15del) Deletion Uncertain significance 567899 rs1478723907 8:42698193-42698195 8:42843050-42843052
34 THAP1 NM_018105.3(THAP1):c.149A>G (p.Tyr50Cys) SNV Uncertain significance 463441 rs1554599710 8:42694447-42694447 8:42839304-42839304
35 THAP1 NM_018105.3(THAP1):c.161G>C (p.Cys54Ser) SNV Uncertain significance 463442 rs1554599707 8:42694435-42694435 8:42839292-42839292
36 THAP1 NM_018105.3(THAP1):c.-34G>A SNV Uncertain significance 692215 rs573112315 8:42698271-42698271 8:42843128-42843128
37 THAP1 NM_018105.3(THAP1):c.403C>T (p.His135Tyr) SNV Uncertain significance 863325 8:42693344-42693344 8:42838201-42838201
38 THAP1 NM_018105.3(THAP1):c.*877A>G SNV Uncertain significance 909431 8:42692228-42692228 8:42837085-42837085
39 THAP1 NM_018105.3(THAP1):c.*835A>G SNV Uncertain significance 909432 8:42692270-42692270 8:42837127-42837127
40 THAP1 NM_018105.3(THAP1):c.*795A>G SNV Uncertain significance 909433 8:42692310-42692310 8:42837167-42837167
41 THAP1 NM_018105.3(THAP1):c.*777A>G SNV Uncertain significance 909434 8:42692328-42692328 8:42837185-42837185
42 THAP1 NM_018105.3(THAP1):c.-118G>A SNV Uncertain significance 909497 8:42698355-42698355 8:42843212-42843212
43 THAP1 NM_018105.3(THAP1):c.*598A>G SNV Uncertain significance 910380 8:42692507-42692507 8:42837364-42837364
44 THAP1 NM_018105.3(THAP1):c.*156A>G SNV Uncertain significance 910381 8:42692949-42692949 8:42837806-42837806
45 THAP1 NM_018105.3(THAP1):c.*139A>G SNV Uncertain significance 911592 8:42692966-42692966 8:42837823-42837823
46 THAP1 NM_018105.3(THAP1):c.*137C>A SNV Uncertain significance 911593 8:42692968-42692968 8:42837825-42837825
47 THAP1 NM_018105.3(THAP1):c.241T>C (p.Phe81Leu) SNV Uncertain significance 1646 rs118204013 8:42694355-42694355 8:42839212-42839212
48 THAP1 NM_018105.3(THAP1):c.*1235C>A SNV Uncertain significance 363107 rs528126268 8:42691870-42691870 8:42836727-42836727
49 THAP1 NM_018105.3(THAP1):c.*245T>C SNV Uncertain significance 363119 rs886062947 8:42692860-42692860 8:42837717-42837717
50 THAP1 NM_018105.3(THAP1):c.*459A>C SNV Uncertain significance 363114 rs886062945 8:42692646-42692646 8:42837503-42837503

Expression for Dyt-Thap1

Search GEO for disease gene expression data for Dyt-Thap1.

Pathways for Dyt-Thap1

GO Terms for Dyt-Thap1

Sources for Dyt-Thap1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
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54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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