MCID: DYT005
MIFTS: 13

Dyt-Thap1

Categories: Rare diseases

Aliases & Classifications for Dyt-Thap1

MalaCards integrated aliases for Dyt-Thap1:

Name: Dyt-Thap1 54
Dystonia 6 54 26
Dyt6 54 26
Idiopathic Torsion Dystonia of Mixed Type 26
Adolescent-Onset Dystonia of Mixed Type 54
Torsion Dystonia Adult Onset Mixed Type 54
Primary Dystonia, Dyt6 Type 26
Torsion Dystonia 6 26
Thap1 Dystonia 26
Dyt6 Dystonia 26

Classifications:



Summaries for Dyt-Thap1

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 98806Disease definitionPrimary 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 dominanttrait.Visit the Orphanet disease page for more resources.

MalaCards based summary : Dyt-Thap1, also known as dystonia 6, is related to dystonia 6, torsion and dystonia.

Genetics Home Reference : 26 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.

Related Diseases for Dyt-Thap1

Diseases related to Dyt-Thap1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dystonia 6, torsion 11.9
2 dystonia 10.8
3 dystonia 12 10.2
4 choreatic disease 10.1
5 spasmodic dysphonia 10.1
6 dyt-tor1a 9.8

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



Diseases related to Dyt-Thap1

Symptoms & Phenotypes for Dyt-Thap1

Drugs & Therapeutics for Dyt-Thap1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Dystonia Genotype-Phenotype Correlation Recruiting NCT03428009

Search 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:

# 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
2
Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype. ( 21110056 )
2011
3
Novel human pathological mutations. Gene symbol: THAP1. Disease: dystonia 6. ( 21488250 )
2010
4
Novel human pathological mutations. Gene symbol: THAP1. Disease: dystonia 6. ( 21488252 )
2010
5
Novel human pathological mutations. Gene symbol: THAP1. Disease: dystonia 6. ( 21488277 )
2010
6
Novel human pathological mutations. Gene symbol: THAP1. Disease: dystonia 6. ( 21488296 )
2010
7
Novel human pathological mutations. Gene symbol: THAP1. Disease: dystonia 6. ( 21488297 )
2010
8
Novel human pathological mutations. Gene symbol: THAP1. Disease: dystonia 6. ( 21488298 )
2010
9
A molecular link between dystonia 1 and dystonia 6? ( 20976763 )
2010

Variations for Dyt-Thap1

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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