DYT7
MCID: DYS068
MIFTS: 23

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 58 74
Dystonia-7, Torsion 58 13
Torsion Dystonia, Focal Adult-Onset 58
Dystonia, Type 7, Torsion 41
Torsion Dystonia 7 12
Dyt7 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
dystonia 7, torsion:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0090040
OMIM 58 602124
MedGen 43 C1865818
UMLS 74 C1865818

Summaries for Dystonia 7, Torsion

OMIM : 58 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 dystonia and cone-rod dystrophy and hearing loss 2, 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 characterized by predomiantly cervical dystonia that has material basis in 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:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 dysphonia 33 HP:0001618
2 clumsiness 33 HP:0002312
3 blepharospasm 33 HP:0000643
4 oromandibular dystonia 33 HP:0012048
5 writer's cramp 33 HP:0002356
6 skeletal muscle hypertrophy 33 HP:0003712
7 torticollis 33 HP:0000473
8 torsion dystonia 33 HP:0001304
9 hand tremor 33 HP:0002378

Symptoms via clinical synopsis from OMIM:

58
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:

42
Skeletal Muscle

Publications for Dystonia 7, Torsion

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
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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