DYT21
MCID: DYS138
MIFTS: 22

Dystonia 21 (DYT21)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Dystonia 21

MalaCards integrated aliases for Dystonia 21:

Name: Dystonia 21 57 12 13 70
Dyt21 57 58
Primary Dystonia, Dyt21 Type 58

Characteristics:

Orphanet epidemiological data:

58
primary dystonia, dyt21 type
Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
dystonia 21:
Inheritance autosomal dominant inheritance
Onset and clinical course young adult onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0090046
OMIM® 57 614588
OMIM Phenotypic Series 57 PS128100
ICD10 32 G24.1
ICD10 via Orphanet 33 G24.1
Orphanet 58 ORPHA306734
MedGen 41 C3281236
UMLS 70 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) (Updated 05-Apr-2021)

MalaCards based summary : Dystonia 21, also known as dyt21, is related to dystonia and dystonia 1, torsion, autosomal dominant, and has symptoms including torticollis An important gene associated with Dystonia 21 is DYT21 (Dystonia 21, Torsion (Autosomal Dominant)). Affiliated tissues include brain, and related phenotypes are blepharospasm and generalized dystonia

Disease Ontology : 12 A dystonia characterized by late onset pure torsion dystonia that has material basis in autosomal dominant inheritance of 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 Rare Dystonia

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

# Related Disease Score Top Affiliating Genes
1 dystonia 11.1
2 dystonia 1, torsion, autosomal dominant 9.9

Symptoms & Phenotypes for Dystonia 21

Human phenotypes related to Dystonia 21:

58 31 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 blepharospasm 58 31 frequent (33%) Frequent (79-30%) HP:0000643
2 generalized dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0007325
3 torticollis 58 31 frequent (33%) Frequent (79-30%) HP:0000473
4 paroxysmal dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0002268
5 axial dystonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002530
6 limb dystonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002451
7 laryngeal dystonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0012049
8 dystonia 58 Very frequent (99-80%)
9 focal dystonia 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

UMLS symptoms related to Dystonia 21:


torticollis

Drugs & Therapeutics for Dystonia 21

Search Clinical Trials , NIH Clinical Center for Dystonia 21

Genetic Tests for Dystonia 21

Anatomical Context for Dystonia 21

MalaCards organs/tissues related to Dystonia 21:

40
Brain

Publications for Dystonia 21

Articles related to Dystonia 21:

# Title Authors PMID Year
1
A high-penetrance form of late-onset torsion dystonia maps to a novel locus (DYT21) on chromosome 2q14.3-q21.3. 61 57
21301909 2011
2
Autosomal dominant torsion dystonia in a Swedish family. 57
3400518 1988
3
Deep brain stimulation in pediatric dystonia: a systematic review. 61
30397842 2020
4
Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders. 61
29913018 2018
5
Uncommon applications of deep brain stimulation in hyperkinetic movement disorders. 61
25713746 2015
6
Genetic issues in the diagnosis of dystonias. 61
23596437 2013
7
Motor re-training does not need to be task specific to improve writer's cramp. 61
18816801 2008

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 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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