MCID: RRM016
MIFTS: 22

Rare Movement Disorder

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Rare Movement Disorder

MalaCards integrated aliases for Rare Movement Disorder:

Name: Rare Movement Disorder 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

UMLS via Orphanet 72 C0026650
Orphanet 58 ORPHA102003

Summaries for Rare Movement Disorder

MalaCards based summary : Rare Movement Disorder is related to movement disease and parkinsonism-dystonia, infantile, 1. An important gene associated with Rare Movement Disorder is GNAO1 (G Protein Subunit Alpha O1), and among its related pathways/superpathways is Chaperonin-mediated protein folding. Affiliated tissues include brain, cervix and endothelial.

Related Diseases for Rare Movement Disorder

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



Diseases related to Rare Movement Disorder

Symptoms & Phenotypes for Rare Movement Disorder

Drugs & Therapeutics for Rare Movement Disorder

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical, Genetic, and Cellular Consequences of Mutations in the NA,K-ATPase ATP1A3 Active, not recruiting NCT00682513

Search NIH Clinical Center for Rare Movement Disorder

Genetic Tests for Rare Movement Disorder

Anatomical Context for Rare Movement Disorder

MalaCards organs/tissues related to Rare Movement Disorder:

40
Brain, Cervix, Endothelial, Subthalamic Nucleus, Pons

Publications for Rare Movement Disorder

Articles related to Rare Movement Disorder:

(show top 50) (show all 106)
# Title Authors PMID Year
1
Painless Legs and Moving Toes Presenting as a Tardive Phenomenon: Case Report and Review of the Literature. 61
32367991 2020
2
Midbrain/pons area ratio and clinical features predict the prognosis of progressive Supranuclear palsy. 61
32228519 2020
3
Primary orthostatic tremor in mandible: A rare case report. 61
32436915 2020
4
Paroxismal non-kinesigenic dyskinesia and hemidystonia associated with silent celiac disease. 61
31710883 2020
5
Juvenile Parkinson Disease. 61
31632863 2019
6
An unusual presentation of bobble-head doll syndrome in a patient with hydranencephaly and Chiari 3 malformation. 61
30726525 2019
7
Hemi Masticatory Spasm: Series of 7 Cases and Review of Literature. 61
31061840 2019
8
Paroxysmal Kinesigenic Dyskinesia Symptoms Markedly Reduced with Parenteral Vitamins and Minerals: A Case Report. 61
31634116 2019
9
Psychiatric and Behavioral Complications of GPi DBS in an Adolescent with Myoclonus Dystonia. 61
31275687 2019
10
The use of smartphone in measuring stance and gait patterns in patients with orthostatic tremor. 61
31318952 2019
11
Reproducible network and regional topographies of abnormal glucose metabolism associated with progressive supranuclear palsy: Multivariate and univariate analyses in American and Chinese patient cohorts. 61
29536636 2018
12
Hemiballismus in Uncontrolled Diabetes Mellitus. 61
29788710 2018
13
Belly dancer's dyskinesia: A rare movement disorder. 61
29503345 2018
14
Successful Treatment of Holmes Tremor With Deep Brain Stimulation of the Prelemniscal Radiations. 61
29904635 2018
15
Hyperglycaemic Hemichorea. 61
30756023 2018
16
Paroxysmal Dyskinesias in a PRRT2 Mutation Carrier. 61
30622840 2018
17
Misdiagnosed atypical paroxysmal kinesigenic dyskinesia: a case report. 61
29892195 2018
18
Depression, anxiety, and quality of life in paroxysmal kinesigenic dyskinesia patients. 61
28836553 2017
19
Measuring Disability in Patients With Cervical Dystonia According to the International Classification of Functioning, Disability and Health. 61
28621218 2017
20
Oculogyric crises: A review of phenomenology, etiology, pathogenesis, and treatment. 61
28218460 2017
21
Sporadic hyperekplexia due to self-limiting brainstem encephalopathy. 61
29062233 2017
22
Palatal and Oromandibular Tremor Secondary to Degenerative Olivary Hypertrophy After Ependymoma Surgery. 61
27564077 2016
23
Essential rhythmic palatal myoclonus in a 51-year-old man. 61
29497553 2016
24
Patience is the key: Contraceptive induced chorea in a girl with Down Syndrome. 61
27053142 2016
25
Early deep brain stimulation in patients with myoclonus-dystonia syndrome. 61
26810467 2016
26
Painful leg and moving toes syndrome in secondary tethered cord syndrome. 61
25664587 2016
27
The role of mutations in COL6A3 in isolated dystonia. 61
26872670 2016
28
A Case of Painless Legs and Moving Toes Syndrome in Parkinson's Disease Responsive to Dopaminergic Therapy. 61
27648321 2016
29
An Unusual Startling. 61
26702184 2015
30
New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3). 61
25604858 2015
31
The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort. 61
26157024 2015
32
Clinical presentation and management of proatlas segmentation defect presenting with palatal myoclonus: case report. 61
26023804 2015
33
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia. 61
25983243 2015
34
Increased interhemispheric resting-state functional connectivity in paroxysmal kinesigenic dyskinesia: a resting-state fMRI study. 61
25783010 2015
35
Hemiballism with leg predominance caused by contralateral subthalamic haemorrhage. 61
25858962 2015
36
A family with paroxysmal nonkinesigenic dyskinesias (PNKD): evidence of mitochondrial dysfunction. 61
25453601 2015
37
Suprasellar arachnoid cyst presenting with bobble-head doll syndrome: Report of three cases. 61
25878736 2015
38
Opsoclonus-myoclonus syndrome after adenovirus infection. 61
26543770 2015
39
Low dose of clonazepam is effective in the treatment of painless legs and moving toes syndrome: a case report. 61
25873890 2015
40
Chorea-ballism associated with ketotic hyperglycemia. 61
25262066 2014
41
Visual signs and symptoms of multiple system atrophy. 61
25256122 2014
42
Severe familial paroxysmal exercise-induced dyskinesia. 61
25099510 2014
43
Bilateral gluteal dyskinesia: discussion of a rare movement disorder. 61
24678444 2014
44
Hemimasticatory spasm: report of a case and review of the literature†. 61
24757582 2014
45
Clinical diagnosis of propriospinal myoclonus is unreliable: an electrophysiologic study. 61
24105950 2013
46
Bilateral deep brain stimulation of the subthalamic nucleus effectively relieves dystonia secondary to Fahr's disease: a case report. 61
23384486 2013
47
Teaching Video NeuroImages: a teenager with a rare movement disorder. 61
23817523 2013
48
Essential palatal tremor treated with botulinum toxin. 61
23583064 2013
49
PRRT2 mutation causes paroxysmal kinesigenic dyskinesia and hemiplegic migraine in monozygotic twins. 61
23182655 2013
50
Non-ketotic hyperglycaemia hemichorea-hemiballismus and acute ischaemic stroke. 61
23470671 2013

Variations for Rare Movement Disorder

ClinVar genetic disease variations for Rare Movement Disorder:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GBA NM_000157.4(GBA):c.1448T>C (p.Leu483Pro)SNV Pathogenic,risk factor 4288 rs421016 1:155205043-155205043 1:155235252-155235252
2 GNAO1 NM_020988.3(GNAO1):c.625C>T (p.Arg209Cys)SNV Pathogenic 265350 rs886039494 16:56370674-56370674 16:56336762-56336762
3 BCS1L NM_001079866.2(BCS1L):c.518G>A (p.Gly173Asp)SNV Likely pathogenic 625208 2:219526539-219526539 2:218661816-218661816
4 SCN2A NM_001040142.2(SCN2A):c.1270G>T (p.Val424Leu)SNV Likely pathogenic 812987 2:166170505-166170505 2:165313995-165313995
5 TBC1D24 NM_001199107.2(TBC1D24):c.901C>T (p.Gln301Ter)SNV Likely pathogenic 812998 16:2547050-2547050 16:2497049-2497049
6 BCS1L NM_001079866.2(BCS1L):c.268C>T (p.Arg90Cys)SNV Conflicting interpretations of pathogenicity 625207 rs369691608 2:219525978-219525978 2:218661255-218661255
7 ITPR1 NM_001168272.1(ITPR1):c.2432C>T (p.Ser811Phe)SNV Uncertain significance 523421 rs1553686424 3:4715906-4715906 3:4674222-4674222
8 46;XY;t(1;6)(q23;q13)dnTranslocation Uncertain significance 267836
9 TBC1D24 NM_001199107.2(TBC1D24):c.605C>T (p.Ser202Leu)SNV Uncertain significance 207501 rs796053400 16:2546754-2546754 16:2496753-2496753

Expression for Rare Movement Disorder

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

Pathways for Rare Movement Disorder

Pathways related to Rare Movement Disorder according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.01 GNAO1 GBA

GO Terms for Rare Movement Disorder

Sources for Rare Movement Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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