MCID: DYS138
MIFTS: 21

Dystonia 21

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

Aliases & Classifications for Dystonia 21

MalaCards integrated aliases for Dystonia 21:

Name: Dystonia 21 57 12 13 73
Dyt21 57 59
Primary Dystonia, Dyt21 Type 59

Characteristics:

Orphanet epidemiological data:

59
primary dystonia, dyt21 type
Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
one large swedish family has been reported (as of april 2012)
young adult onset (range 13 to 50 years)
presenting symptoms in the upper body
incomplete, but high, penetrance


HPO:

32
dystonia 21:
Onset and clinical course young adult onset
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 614588
Disease Ontology 12 DOID:0090046
ICD10 33 G24.1
Orphanet 59 ORPHA306734
ICD10 via Orphanet 34 G24.1
MedGen 42 C3281236
UMLS 73 C3281236

Summaries for Dystonia 21

OMIM : 57 Dystonia-21 (DYT21) is an autosomal dominant form of pure torsion dystonia, a movement disorder characterized by sustained muscle contractions causing twisting and repetitive movements and abnormal postures (summary by Norgren et al., 2011). (614588)

MalaCards based summary : Dystonia 21, also known as dyt21, is related to dystonia, and has symptoms including torticollis An important gene associated with Dystonia 21 is DYT21 (Dystonia 21, Torsion (Autosomal Dominant)). Related phenotypes are torticollis and blepharospasm

Disease Ontology : 12 A dystonia characterized by autosomal dominant inheritance of late onset pure torsion dystonia that has material basis in variation in the chromosome region 2q14.3-q21.3.

Related Diseases for Dystonia 21

Diseases in the Dystonia family:

Dystonia 12 Dystonia 9
Dystonia, Juvenile-Onset Dystonia 16
Dystonia 21 Dystonia 23
Dystonia 24 Dystonia 25
Dystonia 27 Hereditary Dystonia
Kmt2b-Related Dystonia

Diseases related to Dystonia 21 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dystonia 11.5

Symptoms & Phenotypes for Dystonia 21

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
blepharospasm

Voice:
spasmodic dysphonia

Head And Neck Neck:
torticollis

Neurologic Central Nervous System:
dystonia (generalized, focal, or segmental)


Clinical features from OMIM:

614588

Human phenotypes related to Dystonia 21:

59 32 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 torticollis 59 32 frequent (33%) Frequent (79-30%) HP:0000473
2 blepharospasm 59 32 frequent (33%) Frequent (79-30%) HP:0000643
3 paroxysmal dystonia 59 32 frequent (33%) Frequent (79-30%) HP:0002268
4 generalized dystonia 59 32 frequent (33%) Frequent (79-30%) HP:0007325
5 limb dystonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002451
6 axial dystonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002530
7 laryngeal dystonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0012049
8 dystonia 59 Very frequent (99-80%)
9 focal dystonia 59 Frequent (79-30%)

UMLS symptoms related to Dystonia 21:


torticollis

Drugs & Therapeutics for Dystonia 21

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Motor Training to Treat Hand Dystonia Completed NCT00021853 Phase 2

Search NIH Clinical Center for Dystonia 21

Genetic Tests for Dystonia 21

Anatomical Context for Dystonia 21

Publications for Dystonia 21

Variations for Dystonia 21

Expression for Dystonia 21

Search GEO for disease gene expression data for Dystonia 21.

Pathways for Dystonia 21

GO Terms for Dystonia 21

Sources for Dystonia 21

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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