DYT7
MCID: DYS068
MIFTS: 24

Dystonia 7, Torsion (DYT7)

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

Aliases & Classifications for Dystonia 7, Torsion

MalaCards integrated aliases for Dystonia 7, Torsion:

Name: Dystonia 7, Torsion 56 71
Dystonia-7, Torsion 56 13
Torsion Dystonia, Focal Adult-Onset 56
Dystonia, Type 7, Torsion 39
Torsion Dystonia 7 12
Dyt7 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
age of onset 28 to 70 years
symptoms remain focal


HPO:

31
dystonia 7, torsion:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0090040
OMIM 56 602124
OMIM Phenotypic Series 56 PS128100
MedGen 41 C1865818
UMLS 71 C1865818

Summaries for Dystonia 7, Torsion

OMIM : 56 Idiopathic torsion dystonia (ITD) is a clinically and genetically heterogeneous group of movement disorders characterized by sustained dystonic muscle contractions causing involuntary twisting movements and/or postures, where causes such as cerebral lesions (especially of the basal ganglia), drugs, or other neurologic disorders have not been found. Adult-onset torsion dystonia usually remains focal and is localized in the upper part of the body (summary by Leube et al., 1996). (602124)

MalaCards based summary : Dystonia 7, Torsion, also known as dystonia-7, torsion, is related to obsolete: autosomal dominant focal dystonia, dyt7 type and dystonia, and has symptoms including tremor, dystonia and clumsiness. An important gene associated with Dystonia 7, Torsion is DYT7 (Dystonia 7, Torsion (Autosomal Dominant)). Affiliated tissues include skeletal muscle, and related phenotypes are dysphonia and clumsiness

Disease Ontology : 12 A focal dystonia that is characterized by predomiantly cervical dystonia that has material basis in autosomal dominant inheritance of variation in the chromosome region 18p.

Related Diseases for Dystonia 7, Torsion

Graphical network of the top 20 diseases related to Dystonia 7, Torsion:



Diseases related to Dystonia 7, Torsion

Symptoms & Phenotypes for Dystonia 7, Torsion

Human phenotypes related to Dystonia 7, Torsion:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 dysphonia 31 HP:0001618
2 clumsiness 31 HP:0002312
3 blepharospasm 31 HP:0000643
4 oromandibular dystonia 31 HP:0012048
5 writer's cramp 31 HP:0002356
6 skeletal muscle hypertrophy 31 HP:0003712
7 torticollis 31 HP:0000473
8 torsion dystonia 31 HP:0001304
9 hand tremor 31 HP:0002378

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
tremor
dysphonia
clumsiness
torsion dystonia
cranial dystonia
more
Head And Neck Mouth:
oromandibular dystonia

Muscle Soft Tissue:
hypertrophic muscles

Head And Neck Eyes:
blepharospasm

Head And Neck Neck:
torticollis

Clinical features from OMIM:

602124

UMLS symptoms related to Dystonia 7, Torsion:


tremor, dystonia, clumsiness, torticollis

Drugs & Therapeutics for Dystonia 7, Torsion

Search Clinical Trials , NIH Clinical Center for Dystonia 7, Torsion

Genetic Tests for Dystonia 7, Torsion

Anatomical Context for Dystonia 7, Torsion

MalaCards organs/tissues related to Dystonia 7, Torsion:

40
Skeletal Muscle

Publications for Dystonia 7, Torsion

Articles related to Dystonia 7, Torsion:

(show all 30)
# Title Authors PMID Year
1
Search for a founder mutation in idiopathic focal dystonia from Northern Germany. 61 56
9837831 1998
2
Evidence for DYT7 being a common cause of cervical dystonia (torticollis) in Central Europe. 56 61
9342206 1997
3
Sporadic focal dystonia in northwest Germany: molecular basis on chromosome 18p. 56 61
9225692 1997
4
Hereditary Dystonia Overview 6
20301334 2003
5
Idiopathic torsion dystonia: assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution. 56
8894706 1996
6
A genetic study of idiopathic focal dystonias. 56
2042948 1991
7
Genetic issues in the diagnosis of dystonias. 61
23596437 2013
8
DYT7 gene locus for cervical dystonia on chromosome 18p is questionable. 61
23115116 2012
9
Whispering dysphonia in an Australian family (DYT4): a clinical and genetic reappraisal. 61
21956287 2011
10
The role of genes in causing dystonia. 61
20590811 2010
11
Characteristics of dystonia in the 18p deletion syndrome, including a new case. 61
19699028 2009
12
[Genetics of dystonia]. 61
19685389 2009
13
Etiology of musician's dystonia: familial or environmental? 61
19349605 2009
14
Clinical and genetic characterization of a large Dutch family with primary focal dystonia. 61
18823044 2008
15
Unbalanced whole arm translocation resulting in loss of 18p in dystonia. 61
16541453 2006
16
Three brothers with a very-late-onset writer's cramp. 61
15954129 2005
17
Clinical and genetic evaluation in a French population presenting with primary focal dystonia. 61
15726581 2005
18
Update on the genetics of primary torsion dystonia loci DYT6, DYT7, and DYT13 and the dystonia-plus locus DYT12. 61
14509662 2004
19
Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene. 61
12539217 2003
20
The genetics of primary dystonias and related disorders. 61
11912106 2002
21
Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia. 61
11921130 2002
22
DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13--36.32 in an Italian family with cranial-cervical or upper limb onset. 61
11261511 2001
23
Identification of a novel primary torsion dystonia locus (DYT13) on chromosome 1p36 in an Italian family with cranial-cervical or upper limb onset. 61
11487218 2001
24
A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia. 61
11009204 2000
25
[Genetics of dystonia]. 61
10919137 2000
26
Italian family with cranial cervical dystonia: clinical and genetic study. 61
10495044 1999
27
Primary torsion dystonia: the search for genes is not over. 61
10449567 1999
28
Genetic analysis of three patients with an 18p- syndrome and dystonia. 61
10025808 1999
29
Genetics of primary dystonia. 61
12194383 1999
30
Clinical and genetic evaluation of a family with a mixed dystonia phenotype from South Tyrol. 61
9749609 1998

Variations for Dystonia 7, Torsion

Expression for Dystonia 7, Torsion

Search GEO for disease gene expression data for Dystonia 7, Torsion.

Pathways for Dystonia 7, Torsion

GO Terms for Dystonia 7, Torsion

Sources for Dystonia 7, Torsion

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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