MCID: PRM015
MIFTS: 31

Primary Cerebellar Degeneration

Categories: Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Primary Cerebellar Degeneration

MalaCards integrated aliases for Primary Cerebellar Degeneration:

Name: Primary Cerebellar Degeneration 12
Cerebellar Degenerations, Primary 73
Spinocerebellar Degenerations 44
Spinocerebellar Degeneration 73

Classifications:



External Ids:

Disease Ontology 12 DOID:9277
ICD9CM 35 334.2
MeSH 44 D013132
SNOMED-CT 68 23732000

Summaries for Primary Cerebellar Degeneration

MalaCards based summary : Primary Cerebellar Degeneration, also known as cerebellar degenerations, primary, is related to spinocerebellar degeneration and spinocerebellar ataxia 2, and has symptoms including ataxia, myoclonus and cerebellar ataxia. An important gene associated with Primary Cerebellar Degeneration is ATXN3 (Ataxin 3), and among its related pathways/superpathways are Chks in Checkpoint Regulation and Neuroscience. Affiliated tissues include liver.

Related Diseases for Primary Cerebellar Degeneration

Diseases in the Cerebellar Degeneration family:

Primary Cerebellar Degeneration Subacute Cerebellar Degeneration

Diseases related to Primary Cerebellar Degeneration via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 65)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar degeneration 33.9 ATXN1 GLUD1
2 spinocerebellar ataxia 2 32.1 ATXN2 ATXN3 CACNA1A
3 dentatorubral-pallidoluysian atrophy 31.4 ATXN2 ATXN3 CACNA1A
4 autosomal dominant cerebellar ataxia 31.3 ATXN1 ATXN2 ATXN3 CACNA1A CHERP TDP1
5 cerebellar degeneration 30.0 ATXN2 CACNA1A
6 multiple system atrophy 1 29.6 ATXN1 GLUD1 RPS27A
7 friedreich ataxia 1 29.5 ATXN1 ATXN2 ATXN3 CACNA1A
8 aceruloplasminemia 29.5 ATXN1 ATXN2 ATXN3 CACNA1A
9 spinocerebellar ataxia 1 29.2 ANP32A ATXN1 ATXN3 CACNA1A CHERP
10 machado-joseph disease 29.1 ATXN1 ATXN2 ATXN3 CACNA1A RPS27A
11 spinocerebellar degeneration and corneal dystrophy 12.4
12 spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia 12.1
13 spinocerebellar atrophy 11.2
14 mousa al din al nassar syndrome 11.1
15 behr syndrome 11.0
16 gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to 11.0
17 laurence-moon syndrome 11.0
18 vitamin e, familial isolated deficiency of 11.0
19 spinocerebellar ataxia, x-linked 3 11.0
20 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 11.0
21 adrenoleukodystrophy 10.2
22 motor neuron disease 10.1
23 neuropathy 10.1
24 spinal and bulbar muscular atrophy, x-linked 1 10.1 ATXN1 ATXN3
25 spinocerebellar ataxia 18 10.1 ATXN3 CACNA1A
26 spinocerebellar ataxia 6 10.0 ATXN3 CACNA1A
27 langerhans cell histiocytosis 10.0
28 histiocytosis 10.0
29 spinocerebellar ataxia 17 10.0 ATXN3 CACNA1A
30 spinocerebellar ataxia 31 10.0 ATXN3 CACNA1A
31 cerebellar disease 9.9 ATXN3 CACNA1A
32 autosomal genetic disease 9.9 ATXN1 ATXN3 CACNA1A
33 hypertrophic neuropathy of dejerine-sottas 9.9
34 roussy-levy hereditary areflexic dystasia 9.9
35 celiac disease 1 9.9
36 wilson disease 9.9
37 asthma 9.9
38 supranuclear palsy, progressive, 1 9.9
39 fatty liver disease, nonalcoholic 1 9.9
40 pyruvate dehydrogenase e1-beta deficiency 9.9
41 charcot-marie-tooth disease 9.9
42 diabetes mellitus 9.9
43 hemolytic anemia 9.9
44 hereditary spastic paraplegia 9.9
45 hereditary sensory neuropathy 9.9
46 blind loop syndrome 9.9
47 tooth disease 9.9
48 amenorrhea 9.9
49 facial hemiatrophy 9.9
50 sensory peripheral neuropathy 9.9

Comorbidity relations with Primary Cerebellar Degeneration via Phenotypic Disease Network (PDN):


Acute Cystitis

Graphical network of the top 20 diseases related to Primary Cerebellar Degeneration:



Diseases related to Primary Cerebellar Degeneration

Symptoms & Phenotypes for Primary Cerebellar Degeneration

UMLS symptoms related to Primary Cerebellar Degeneration:


ataxia, myoclonus, cerebellar ataxia

Drugs & Therapeutics for Primary Cerebellar Degeneration

Search Clinical Trials , NIH Clinical Center for Primary Cerebellar Degeneration

Cochrane evidence based reviews: spinocerebellar degenerations

Genetic Tests for Primary Cerebellar Degeneration

Anatomical Context for Primary Cerebellar Degeneration

MalaCards organs/tissues related to Primary Cerebellar Degeneration:

41
Liver

Publications for Primary Cerebellar Degeneration

Articles related to Primary Cerebellar Degeneration:

# Title Authors Year
1
Primary cerebellar degeneration and HIV. ( 11427105 )
2001
2
Skull structure with primary cerebellar degeneration. ( 7393452 )
1980

Variations for Primary Cerebellar Degeneration

Expression for Primary Cerebellar Degeneration

Search GEO for disease gene expression data for Primary Cerebellar Degeneration.

Pathways for Primary Cerebellar Degeneration

Pathways related to Primary Cerebellar Degeneration according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.94 ATXN1 ATXN2 ATXN3
2 11.67 ATXN1 GLUD1 RPS27A
3 9.7 ATXN3 RPS27A

GO Terms for Primary Cerebellar Degeneration

Cellular components related to Primary Cerebellar Degeneration according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.28 ANP32A ATXN1 ATXN2 ATXN3 CACNA1A CHERP
2 nuclear inclusion body GO:0042405 8.96 ATXN1 ATXN3

Biological processes related to Primary Cerebellar Degeneration according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of mRNA stability GO:0043488 8.62 ANP32A RPS27A

Molecular functions related to Primary Cerebellar Degeneration according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.61 ANP32A ATXN1 ATXN2 ATXN3 CACNA1A CHERP
2 RNA binding GO:0003723 9.02 ANP32A ATXN1 ATXN2 CHERP RPS27A

Sources for Primary Cerebellar Degeneration

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
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