DYT15
MCID: DYS058
MIFTS: 19

Dystonia 15, Myoclonic (DYT15)

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

Aliases & Classifications for Dystonia 15, Myoclonic

MalaCards integrated aliases for Dystonia 15, Myoclonic:

Name: Dystonia 15, Myoclonic 57 70
Dystonia-15, Myoclonic 57 13
Myoclonic Dystonia 15 12
Dyt15 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see )
favorable response to alcohol
onset at age 5 to 15 years


HPO:

31
dystonia 15, myoclonic:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

Disease Ontology 12 DOID:0090035
OMIM® 57 607488
OMIM Phenotypic Series 57 PS128100
MedGen 41 C1843786
UMLS 70 C1843786

Summaries for Dystonia 15, Myoclonic

Disease Ontology : 12 A myoclonic dystonia that is characterized by jerky movements of the upper limbs, hands, and axial muscles, and has material basis in autosomal dominant inheritance of variation in the chromosome region 18p11.

MalaCards based summary : Dystonia 15, Myoclonic, also known as dystonia-15, myoclonic, is related to dystonia and dystonia 11, myoclonic, and has symptoms including myoclonus An important gene associated with Dystonia 15, Myoclonic is DYT15 (Dystonia 15, Myoclonic). Related phenotypes are myoclonus and dystonia

More information from OMIM: 607488 PS128100

Related Diseases for Dystonia 15, Myoclonic

Diseases in the Dystonia 11, Myoclonic family:

Dystonia 15, Myoclonic Dystonia 26, Myoclonic

Diseases related to Dystonia 15, Myoclonic via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dystonia 11.1
2 dystonia 11, myoclonic 11.0
3 sgce myoclonus-dystonia 9.9
4 myoclonus 9.9

Symptoms & Phenotypes for Dystonia 15, Myoclonic

Human phenotypes related to Dystonia 15, Myoclonic:

31
# Description HPO Frequency HPO Source Accession
1 myoclonus 31 HP:0001336
2 dystonia 31 HP:0001332
3 writer's cramp 31 HP:0002356

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
myoclonus
dystonia
writer's cramp
upper limbs more often affected than lower limbs

Clinical features from OMIM®:

607488 (Updated 20-May-2021)

UMLS symptoms related to Dystonia 15, Myoclonic:


myoclonus

Drugs & Therapeutics for Dystonia 15, Myoclonic

Search Clinical Trials , NIH Clinical Center for Dystonia 15, Myoclonic

Genetic Tests for Dystonia 15, Myoclonic

Anatomical Context for Dystonia 15, Myoclonic

Publications for Dystonia 15, Myoclonic

Articles related to Dystonia 15, Myoclonic:

# Title Authors PMID Year
1
A novel locus for inherited myoclonus-dystonia on 18p11. 57
12391345 2002
2
Inherited myoclonus-dystonia: evidence supporting genetic heterogeneity. 57
11215567 2001
3
Genetic Aspects of Myoclonus-Dystonia Syndrome (MDS). 61
26790671 2017
4
Whispering dysphonia in an Australian family (DYT4): a clinical and genetic reappraisal. 61
21956287 2011
5
Myoclonus-dystonia syndrome. 61
21496608 2011
6
Characteristics of dystonia in the 18p deletion syndrome, including a new case. 61
19699028 2009
7
Autosomal dominant myoclonus-dystonia and Tourette syndrome in a family without linkage to the SGCE gene. 61
17702041 2007
8
Refinement of the DYT15 locus in myoclonus dystonia. 61
17274032 2007
9
Unbalanced whole arm translocation resulting in loss of 18p in dystonia. 61
16541453 2006
10
[Inherited dystonia update]. 61
15651334 2004

Variations for Dystonia 15, Myoclonic

Expression for Dystonia 15, Myoclonic

Search GEO for disease gene expression data for Dystonia 15, Myoclonic.

Pathways for Dystonia 15, Myoclonic

GO Terms for Dystonia 15, Myoclonic

Sources for Dystonia 15, Myoclonic

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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