MSA-C
MCID: MLT105
MIFTS: 24

Multiple System Atrophy, Cerebellar Type (MSA-C)

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Multiple System Atrophy, Cerebellar Type

MalaCards integrated aliases for Multiple System Atrophy, Cerebellar Type:

Name: Multiple System Atrophy, Cerebellar Type 59
Sporadic Olivopontocerebellar Atrophy Type 1 59
Msa, Cerebellar Type 59
Sporadic Opca Type 1 59
Msa-C 59

Characteristics:

Orphanet epidemiological data:

59
multiple system atrophy, cerebellar type
Inheritance: Not applicable; Age of onset: Adult; Age of death: adult;

Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Multiple System Atrophy, Cerebellar Type

MalaCards based summary : Multiple System Atrophy, Cerebellar Type, also known as sporadic olivopontocerebellar atrophy type 1, is related to multiple system atrophy 1 and aceruloplasminemia. An important gene associated with Multiple System Atrophy, Cerebellar Type is COQ2 (Coenzyme Q2, Polyprenyltransferase). Affiliated tissues include brain and eye, and related phenotypes are depressivity and dysarthria

Related Diseases for Multiple System Atrophy, Cerebellar Type

Diseases related to Multiple System Atrophy, Cerebellar Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 multiple system atrophy 1 10.5
2 aceruloplasminemia 10.0
3 dementia 9.9
4 autosomal dominant cerebellar ataxia 9.9
5 tremor 9.9

Graphical network of the top 20 diseases related to Multiple System Atrophy, Cerebellar Type:



Diseases related to Multiple System Atrophy, Cerebellar Type

Symptoms & Phenotypes for Multiple System Atrophy, Cerebellar Type

Human phenotypes related to Multiple System Atrophy, Cerebellar Type:

59 32 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 depressivity 59 32 frequent (33%) Frequent (79-30%) HP:0000716
2 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
3 dysphonia 59 32 frequent (33%) Frequent (79-30%) HP:0001618
4 constipation 59 32 frequent (33%) Frequent (79-30%) HP:0002019
5 anxiety 59 32 frequent (33%) Frequent (79-30%) HP:0000739
6 gait ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002066
7 limb ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002070
8 rigidity 59 32 occasional (7.5%) Occasional (29-5%) HP:0002063
9 progressive cerebellar ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002073
10 postural tremor 59 32 frequent (33%) Frequent (79-30%) HP:0002174
11 bradykinesia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002067
12 neuromuscular dysphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002068
13 frequent falls 59 32 frequent (33%) Frequent (79-30%) HP:0002359
14 stridor 59 32 frequent (33%) Frequent (79-30%) HP:0010307
15 orthostatic hypotension due to autonomic dysfunction 59 32 frequent (33%) Frequent (79-30%) HP:0004926
16 parkinsonism 59 32 occasional (7.5%) Occasional (29-5%) HP:0001300
17 apathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000741
18 raynaud phenomenon 59 32 frequent (33%) Frequent (79-30%) HP:0030880
19 postural instability 59 32 frequent (33%) Frequent (79-30%) HP:0002172
20 abnormal brain fdg positron emission tomography 59 32 frequent (33%) Frequent (79-30%) HP:0012658
21 orofacial dyskinesia 59 32 frequent (33%) Frequent (79-30%) HP:0002310
22 broad-based gait 59 32 frequent (33%) Frequent (79-30%) HP:0002136
23 gaze-evoked nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000640
24 resting tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0002322
25 central sleep apnea 59 32 frequent (33%) Frequent (79-30%) HP:0010536
26 abnormal rapid eye movement sleep 59 32 frequent (33%) Frequent (79-30%) HP:0002494
27 axial dystonia 59 32 frequent (33%) Frequent (79-30%) HP:0002530
28 autonomic bladder dysfunction 59 32 frequent (33%) Frequent (79-30%) HP:0005341
29 autonomic erectile dysfunction 59 32 frequent (33%) Frequent (79-30%) HP:0008652
30 downbeat nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0010545
31 orthostatic syncope 59 32 frequent (33%) Frequent (79-30%) HP:0012670
32 female anorgasmia 59 32 frequent (33%) Frequent (79-30%) HP:0030015
33 camptocormia 59 32 occasional (7.5%) Occasional (29-5%) HP:0100595
34 dysautonomia 59 Frequent (79-30%)
35 abnormal pyramidal signs 59 Frequent (79-30%)
36 abnormal pyramidal sign 32 frequent (33%) HP:0007256

Drugs & Therapeutics for Multiple System Atrophy, Cerebellar Type

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Multiple System Atrophy, Cerebellar Type

Genetic Tests for Multiple System Atrophy, Cerebellar Type

Anatomical Context for Multiple System Atrophy, Cerebellar Type

MalaCards organs/tissues related to Multiple System Atrophy, Cerebellar Type:

41
Brain, Eye

Publications for Multiple System Atrophy, Cerebellar Type

Articles related to Multiple System Atrophy, Cerebellar Type:

# Title Authors Year
1
3-Hz postural tremor in multiple system atrophy cerebellar type (MSA-C)-a static posturography study. ( 29027029 )
2018
2
Clinics in diagnostic imaging (191). Multiple system atrophy-cerebellar type (MSA-C). ( 30386855 )
2018
3
The Diagnosis and Natural History of Multiple System Atrophy, Cerebellar Type. ( 26467153 )
2015
4
Significance of combined use of MRI and perfusion SPECT for evaluation of multiple system atrophy, cerebellar type. ( 26253930 )
2015
5
Dynamic Cerebrospinal Fluid Flow on MRI in Cortical Cerebellar Atrophy and Multiple System Atrophy-cerebellar Type. ( 26179524 )
2015
6
The merit of proton magnetic resonance spectroscopy in the longitudinal assessment of spinocerebellar ataxias and multiple system atrophy-cerebellar type. ( 26331041 )
2014
7
Differences between spinocerebellar ataxias and multiple system atrophy-cerebellar type on proton magnetic resonance spectroscopy. ( 23118909 )
2012
8
A case of multiple system atrophy-cerebellar type preceded by dementia. ( 24868414 )
2012
9
Clinical analysis of the treatment of spinocerebellar ataxia and multiple system atrophy-cerebellar type with umbilical cord mesenchymal stromal cells. ( 21545234 )
2011
10
Pathological laughter and crying in patients with multiple system atrophy-cerebellar type. ( 17290465 )
2007

Variations for Multiple System Atrophy, Cerebellar Type

Expression for Multiple System Atrophy, Cerebellar Type

Search GEO for disease gene expression data for Multiple System Atrophy, Cerebellar Type.

Pathways for Multiple System Atrophy, Cerebellar Type

GO Terms for Multiple System Atrophy, Cerebellar Type

Sources for Multiple System Atrophy, Cerebellar Type

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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34 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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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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