DYT30
MCID: DYS212
MIFTS: 18

Dystonia 30 (DYT30)

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

Aliases & Classifications for Dystonia 30

MalaCards integrated aliases for Dystonia 30:

Name: Dystonia 30 57
Dyt30 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
incomplete penetrance
intrafamilial variability
slowly progressive
median age at onset 12 years (range 3 to 50)

Inheritance:
autosomal dominant


Classifications:



External Ids:

OMIM® 57 619291
OMIM Phenotypic Series 57 PS128100

Summaries for Dystonia 30

OMIM® : 57 Dystonia-30 (DYT30) is an autosomal dominant neurologic disorder characterized by the onset of symptoms in the first decades of life. Patients present with oromandibular, cervical, bulbar, or upper limb dystonia, and usually show slow progression to generalized dystonia. Some patients may lose ambulation. A subset of patients may also have neurocognitive impairment, including mild intellectual disability or psychiatric manifestations (summary by Steel et al., 2020). (619291) (Updated 20-May-2021)

MalaCards based summary : Dystonia 30, is also known as dyt30. An important gene associated with Dystonia 30 is VPS16 (VPS16 Core Subunit Of CORVET And HOPS Complexes). Affiliated tissues include eye, brain and cortex.

Related Diseases for Dystonia 30

Symptoms & Phenotypes for Dystonia 30

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
dysarthria
dysphonia
dystonia
generalized dystonia
writer's cramp
more
Neurologic Behavioral Psychiatric Manifestations:
impulsivity
aggression
bipolar disorder
mood disorders
psychiatric manifestations (in some patients)
more
Head And Neck Neck:
torticollis

Head And Neck Mouth:
oromandibular dystonia

Clinical features from OMIM®:

619291 (Updated 20-May-2021)

Drugs & Therapeutics for Dystonia 30

Search Clinical Trials , NIH Clinical Center for Dystonia 30

Genetic Tests for Dystonia 30

Anatomical Context for Dystonia 30

MalaCards organs/tissues related to Dystonia 30:

40
Eye, Brain, Cortex

Publications for Dystonia 30

Articles related to Dystonia 30:

# Title Authors PMID Year
1
Truncating VPS16 Mutations Are Rare in Early Onset Dystonia. 57
33305852 2021
2
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities. 57
32808683 2020
3
Homozygous mutation of VPS16 gene is responsible for an autosomal recessive adolescent-onset primary dystonia. 57
27174565 2016
4
Shared demographics and comorbidities in different functional motor disorders. 61
31785442 2020
5
Age-related changes in parvalbumin-positive interneurons in the striatum, but not in the sensorimotor cortex in dystonic brains of the dt(sz) mutant hamster. 61
17391652 2007
6
Age-related changes in striatal nitric oxide synthase-immunoreactive interneurones in the dystonic dtsz mutant hamster. 61
16409555 2006
7
Increased levels of kynurenic acid in brains of genetically dystonic hamsters. 61
8861729 1996
8
Regionally selective and age-dependent alterations in benzodiazepine receptor binding in the genetically dystonic hamster. 61
7722500 1995
9
Abnormalities in amino acid neurotransmitters in discrete brain regions of genetically dystonic hamsters. 61
1352802 1992

Variations for Dystonia 30

Expression for Dystonia 30

Search GEO for disease gene expression data for Dystonia 30.

Pathways for Dystonia 30

GO Terms for Dystonia 30

Sources for Dystonia 30

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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