MCID: MLT105
MIFTS: 23

Multiple System Atrophy, Cerebellar Type

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 autosomal dominant cerebellar ataxia. An important gene associated with Multiple System Atrophy, Cerebellar Type is COQ2 (Coenzyme Q2, Polyprenyltransferase). Affiliated tissues include eye and brain, and related phenotypes are gaze-evoked nystagmus and depressivity

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 10.2
2 autosomal dominant cerebellar ataxia 10.0

Symptoms & Phenotypes for Multiple System Atrophy, Cerebellar Type

Human phenotypes related to Multiple System Atrophy, Cerebellar Type:

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

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
Eye, Brain

Publications for Multiple System Atrophy, Cerebellar Type

Articles related to Multiple System Atrophy, Cerebellar Type:

# Title Authors Year
1
Comparison Study of Polysomnographic Features in Multiple System Atrophy-cerebellar Types Combined with and without Rapid Eye Movement Sleep Behavior Disorder. ( 27625088 )
2016
2
The Diagnosis and Natural History of Multiple System Atrophy, Cerebellar Type. ( 26467153 )
2015
3
Significance of combined use of MRI and perfusion SPECT for evaluation of multiple system atrophy, cerebellar type. ( 26253930 )
2015
4
Differences between spinocerebellar ataxias and multiple system atrophy-cerebellar type on proton magnetic resonance spectroscopy. ( 23118909 )
2012
5
Clinical analysis of the treatment of spinocerebellar ataxia and multiple system atrophy-cerebellar type with umbilical cord mesenchymal stromal cells. ( 21545234 )
2011
6
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
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
Content
Loading form....