SCAR4
MCID: VPS005
MIFTS: 9

Vps13d Movement Disorder (SCAR4)

Aliases & Classifications for Vps13d Movement Disorder

MalaCards integrated aliases for Vps13d Movement Disorder:

Name: Vps13d Movement Disorder 24
Spinocerebellar Ataxia with Saccadic Intrusion 24
Spinocerebellar Ataxia, Recessive, Type 4 24
Vps13d Hyperkinetic Movement Disorder 24
Scar4 24
Scasi 24

Summaries for Vps13d Movement Disorder

MalaCards based summary : Vps13d Movement Disorder, also known as spinocerebellar ataxia with saccadic intrusion, is related to ataxia and polyneuropathy, adult-onset and spinocerebellar ataxia, autosomal recessive 4. An important gene associated with Vps13d Movement Disorder is VPS13D (Vacuolar Protein Sorting 13 Homolog D).

GeneReviews: NBK537720

Related Diseases for Vps13d Movement Disorder

Diseases related to Vps13d Movement Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 ataxia and polyneuropathy, adult-onset 10.2
2 spinocerebellar ataxia, autosomal recessive 4 10.2
3 alacrima, achalasia, and mental retardation syndrome 10.2
4 chorea, childhood-onset, with psychomotor retardation 10.2
5 spastic ataxia 10.2
6 choreatic disease 10.2
7 dystonia 10.2
8 peripheral nervous system disease 10.2
9 neuropathy 10.2
10 pathologic nystagmus 10.2
11 spasticity 10.2

Graphical network of the top 20 diseases related to Vps13d Movement Disorder:



Diseases related to Vps13d Movement Disorder

Symptoms & Phenotypes for Vps13d Movement Disorder

Drugs & Therapeutics for Vps13d Movement Disorder

Search Clinical Trials , NIH Clinical Center for Vps13d Movement Disorder

Genetic Tests for Vps13d Movement Disorder

Anatomical Context for Vps13d Movement Disorder

Publications for Vps13d Movement Disorder

Articles related to Vps13d Movement Disorder:

# Title Authors PMID Year
1
Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects. 4
29604224 2018
2
Recessive mutations in >VPS13D cause childhood onset movement disorders. 4
29518281 2018
3
Vps13D Encodes a Ubiquitin-Binding Protein that Is Required for the Regulation of Mitochondrial Size and Clearance. 4
29307555 2018
4
Diagnosis and treatment of dystonia. 4
25432724 2015
5
Consensus clinical management guidelines for Friedreich ataxia. 4
25928624 2014
6
EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood. 4
24418350 2014
7
A form of inherited cerebellar ataxia with saccadic intrusions, increased saccadic speed, sensory neuropathy, and myoclonus. 4
11960835 2002
8
VPS13D Movement Disorder 38
30789691 2019

Variations for Vps13d Movement Disorder

Expression for Vps13d Movement Disorder

Search GEO for disease gene expression data for Vps13d Movement Disorder.

Pathways for Vps13d Movement Disorder

GO Terms for Vps13d Movement Disorder

Sources for Vps13d Movement Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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