DYT15
MCID: DYS058
MIFTS: 17

Dystonia 15, Myoclonic (DYT15)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Dystonia 15, Myoclonic

MalaCards integrated aliases for Dystonia 15, Myoclonic:

Name: Dystonia 15, Myoclonic 58 74
Dystonia-15, Myoclonic 58 13
Myoclonic Dystonia 15 12
Dyt15 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
dystonia 15, myoclonic:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0090035
OMIM 58 607488
MedGen 43 C1843786
UMLS 74 C1843786

Summaries for Dystonia 15, Myoclonic

Disease Ontology : 12 A myoclonic dystonia characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 18p11.

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

Description from OMIM: 607488

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, myoclonic 11.7
2 dystonia 11.6
3 cone-rod dystrophy and hearing loss 2 11.1
4 myoclonus 10.1

Symptoms & Phenotypes for Dystonia 15, Myoclonic

Human phenotypes related to Dystonia 15, Myoclonic:

33
# Description HPO Frequency HPO Source Accession
1 myoclonus 33 HP:0001336
2 dystonia 33 HP:0001332
3 writer's cramp 33 HP:0002356

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
myoclonus
dystonia
writer's cramp
upper limbs more often affected than lower limbs

Clinical features from OMIM:

607488

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

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
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
Content
Loading form....