Primary Cerebellar Degeneration disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Rare diseases Metabolic diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:9277

ICD9CM ³⁵ 334.2

MeSH ⁴⁴ D013132

SNOMED-CT ⁶⁸ 23732000

UMLS ⁷³ C0033132 C0037952

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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.

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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:

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Symptoms & Phenotypes for Primary Cerebellar Degeneration

UMLS symptoms related to Primary Cerebellar Degeneration:

ataxia, myoclonus, cerebellar ataxia

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Drugs & Therapeutics for Primary Cerebellar Degeneration

Search Clinical Trials , NIH Clinical Center for Primary Cerebellar Degeneration

Cochrane evidence based reviews: spinocerebellar degenerations

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Genetic Tests for Primary Cerebellar Degeneration

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Anatomical Context for Primary Cerebellar Degeneration

MalaCards organs/tissues related to Primary Cerebellar Degeneration:

⁴¹

Liver

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Publications for Primary Cerebellar Degeneration

Articles related to Primary Cerebellar Degeneration:

#	Title	Authors	Year
1	Primary cerebellar degeneration and HIV. ( 11427105 )	Kwakwa H.A....Ghobrial M.W.	2001
2	Skull structure with primary cerebellar degeneration. ( 7393452 )	Spengos M....Scarpalezos S.	1980

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Genes for Primary Cerebellar Degeneration

Genes related to Primary Cerebellar Degeneration (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ATXN3	Ataxin 3	Protein Coding	20.41	Novoseek inferred ⁵⁵	17696782 17983597 12857950 (more) 12938149 19429074
2	ATXN1	Ataxin 1	Protein Coding	20.25	Novoseek inferred ⁵⁵	17557114 17110325 9046258 (more) 19085187 19846700 7543989
3	TDP1	Tyrosyl-DNA Phosphodiesterase 1	Protein Coding	19.87	Novoseek inferred ⁵⁵	16793421 20009512 15920477 (more) 18473723
4	ATXN2	Ataxin 2	Protein Coding	19.73	Novoseek inferred ⁵⁵	20016785 18602463 17392519 (more) 15342467
5	ANP32A	Acidic Nuclear Phosphoprotein 32 Family Member A	Protein Coding	18.86	Novoseek inferred ⁵⁵	17557114 12807913
6	CACNA1A	Calcium Voltage-Gated Channel Subunit Alpha1 A	Protein Coding	17.68	Novoseek inferred ⁵⁵	9259274 16325861
7	GLUD1	Glutamate Dehydrogenase 1	Protein Coding	16.01	Novoseek inferred ⁵⁵	1740378 8197908
8	RPS27A	Ribosomal Protein S27a	Protein Coding	13.53	Novoseek inferred ⁵⁵	15808507
9	CHERP	Calcium Homeostasis Endoplasmic Reticulum Protein	Protein Coding	8.99	Novoseek inferred ⁵⁵	11511401

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Variations for Primary Cerebellar Degeneration

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Expression for Primary Cerebellar Degeneration

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

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Pathways for Primary Cerebellar Degeneration

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

#	Super pathways	Score	Top Affiliating Genes
1	Chks in Checkpoint Regulation ⁶⁴ Show member pathways DNA Repair Mechanisms ⁶⁴ Estrogen-mediated S-Phase Entry ⁶⁴ G2-M Phase Transition ⁶⁴ Parkinson's Disease Pathway ⁶⁴ SREBP Proteolysis ⁶⁴	11.94	ATXN1 ATXN2 ATXN3
2	Neuroscience ⁴	11.67	ATXN1 GLUD1 RPS27A
3	Josephin domain DUBs ⁶⁶	9.7	ATXN3 RPS27A

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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

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Sources for Primary Cerebellar Degeneration

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

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⁹ Cosmic

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²⁰ GeneAnalytics

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²⁵ Genetics Home Reference

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³⁶ IUPHAR

³⁷ KEGG

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⁴¹ MalaCards

⁴² MedGen

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⁴⁴ MeSH

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⁴⁸ NCBI Bookshelf

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⁵¹ NDF-RT

⁵² NIH Clinical Center

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⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

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⁵⁹ Orphanet

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⁷¹ TGDB

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⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia