MCID: DYS058
MIFTS: 17

Dystonia 15, Myoclonic

Categories: Neuronal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Dystonia 15, Myoclonic

MalaCards integrated aliases for Dystonia 15, Myoclonic:

Name: Dystonia 15, Myoclonic 57 73
Dystonia-15, Myoclonic 57 13
Myoclonic Dystonia 15 12
Dyt15 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
dystonia 15, myoclonic:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

OMIM 57 607488
Disease Ontology 12 DOID:0090035
MedGen 42 C1843786
UMLS 73 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 dystonia and myoclonus

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 11.6
2 dystonia 9.9
3 myoclonus 9.9

Symptoms & Phenotypes for Dystonia 15, Myoclonic

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
myoclonus
dystonia
writer's cramp
upper limbs more often affected than lower limbs


Clinical features from OMIM:

607488

Human phenotypes related to Dystonia 15, Myoclonic:

32
# Description HPO Frequency HPO Source Accession
1 dystonia 32 HP:0001332
2 myoclonus 32 HP:0001336
3 writer's cramp 32 HP:0002356

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 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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