SCA9
MCID: CRB222
MIFTS: 20

Cerebellar Ataxia Type 9 (SCA9)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cerebellar Ataxia Type 9

MalaCards integrated aliases for Cerebellar Ataxia Type 9:

Name: Cerebellar Ataxia Type 9 12 29 15
Sca9 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0111747

Summaries for Cerebellar Ataxia Type 9

Disease Ontology : 12 An autosomal dominant cerebellar ataxia characterized by adult onset of ataxia and imbalance and demyelinating lesions on brain MRI.

MalaCards based summary : Cerebellar Ataxia Type 9, also known as sca9, is related to spinocerebellar ataxia 9 and cerebral palsy, ataxic, autosomal recessive. An important gene associated with Cerebellar Ataxia Type 9 is SPTBN2 (Spectrin Beta, Non-Erythrocytic 2), and among its related pathways/superpathways are Dopamine-DARPP32 Feedback onto cAMP Pathway and Spinocerebellar ataxia. Affiliated tissues include salivary gland.

Related Diseases for Cerebellar Ataxia Type 9

Diseases in the Autosomal Dominant Cerebellar Ataxia family:

Autosomal Recessive Cerebellar Ataxia Cerebellar Ataxia Type 42
Cerebellar Ataxia Type 47 Cerebellar Ataxia Type 41
Cerebellar Ataxia Type 43 Cerebellar Ataxia Type 48
Cerebellar Ataxia Type 9 Congenital Cerebellar Ataxia Due to Rnu12 Mutation
Autosomal Recessive Cerebellar Ataxia Due to a Dna Repair Defect Autosomal Recessive Congenital Cerebellar Ataxia
Autosomal Dominant Cerebellar Ataxia Type I Autosomal Dominant Cerebellar Ataxia Type Iii
Autosomal Dominant Cerebellar Ataxia Type Iv

Diseases related to Cerebellar Ataxia Type 9 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 9 11.4
2 cerebral palsy, ataxic, autosomal recessive 10.2 SPTBN2 KCNC3
3 spastic paraplegia 41, autosomal dominant 10.2 SPTBN2 KCND3
4 cerebellar ataxia type 41 10.2 KCND3 KCNC3
5 cerebellar ataxia type 42 10.2 KCND3 KCNC3
6 spinocerebellar ataxia type 19/22 10.2 KCND3 FGF14
7 spinocerebellar ataxia 23 10.2 SPTBN2 KCNC3
8 spinocerebellar ataxia 37 10.1 DAB1 ATXN10
9 marinesco-sjogren syndrome 10.1 SPTBN2 KCNC3 DAB1
10 lingual-facial-buccal dyskinesia 10.1 KCNC3 FGF14
11 spinocerebellar ataxia 36 10.1 DAB1 ATXN10
12 spotted fever 10.1 SPTBN2 PLEKHG4
13 episodic ataxia, type 1 10.1 KCND3 KCNC3
14 israeli tick typhus 10.1 SPTBN2 PLEKHG4
15 spinocerebellar ataxia 18 10.1 SPTBN2 PLEKHG4
16 brill-zinsser disease 10.1 SPTBN2 PLEKHG4
17 far eastern spotted fever 10.1 SPTBN2 KCNC3 ATXN10
18 spinocerebellar ataxia 15 10.1 SPTBN2 KCNC3 ATXN10
19 endemic typhus 10.0 SPTBN2 PLEKHG4
20 rocky mountain spotted fever 10.0 SPTBN2 PLEKHG4
21 spinocerebellar ataxia, x-linked 5 10.0 PLEKHG4 FGF14
22 spastic paraplegia 25, autosomal recessive 10.0 PLEKHG4 FGF14
23 spastic paraplegia 34, x-linked 10.0 PLEKHG4 FGF14
24 boutonneuse fever 10.0 SPTBN2 PLEKHG4
25 spinocerebellar ataxia 21 10.0 PLEKHG4 FGF14
26 spinocerebellar ataxia 13 9.9 SPTBN2 KCND3 KCNC3 FGF14
27 fragile x-associated tremor/ataxia syndrome 9.9 PPP2R2B ATXN10
28 spinocerebellar ataxia 31 9.9 PLEKHG4 DAB1 ATXN10
29 tactile agnosia 9.8 PPP2R2B ATXN7
30 episodic ataxia, type 6 9.8 SPTBN2 KCNC3 ATXN7
31 spinocerebellar ataxia, autosomal recessive 8 9.8 SPTBN2 KCNC3 ATXN7
32 epidemic typhus 9.8 SPTBN2 PLEKHG4
33 familial adult myoclonic epilepsy 9.8 DAB1 ATXN10
34 spinocerebellar ataxia 12 9.7 PPP2R2B ATXN7
35 spinocerebellar ataxia 17 9.7 PPP2R2B FGF14 ATXN7
36 x-linked hereditary ataxia 9.6 PPP2R2B ATXN7 ATXN10
37 huntington disease-like 2 9.6 PPP2R2B ATXN7 ATXN10
38 spinocerebellar ataxia 6 9.6 PPP2R2B ATXN7 ATXN10
39 spinocerebellar ataxia 8 9.6 PPP2R2B ATXN7 ATXN10
40 episodic ataxia, type 2 9.6 SPTBN2 KCNC3 ATXN7 ATXN10
41 spinocerebellar ataxia 10 9.5 PPP2R2B DAB1 ATXN7 ATXN10
42 spinal and bulbar muscular atrophy, x-linked 1 9.5 PPP2R2B KCNC3 ATXN7 ATXN10
43 myotonic dystrophy 1 9.4 PPP2R2B ATXN7 ATXN10
44 spinocerebellar ataxia 1 9.3 PPP2R2B PLEKHG4 ATXN7 ATXN10
45 parkinson disease, late-onset 9.2 SPTBN2 PPP2R2B KCNC3 ATXN7 ATXN10
46 episodic ataxia 9.2 SPTBN2 PPP2R2B KCND3 KCNC3 FGF14 ATXN7
47 machado-joseph disease 9.2 SPTBN2 PPP2R2B PLEKHG4 ATXN7 ATXN10
48 hereditary ataxia 9.0 SPTBN2 PPP2R2B KCND3 KCNC3 FGF14 ATXN7
49 spinocerebellar ataxia 30 8.8 SPTBN2 PPP2R2B PLEKHG4 KCND3 FGF14 ATXN7
50 cerebellar disease 8.6 SPTBN2 PPP2R2B PLEKHG4 KCND3 KCNC3 FGF14

Graphical network of the top 20 diseases related to Cerebellar Ataxia Type 9:



Diseases related to Cerebellar Ataxia Type 9

Symptoms & Phenotypes for Cerebellar Ataxia Type 9

Drugs & Therapeutics for Cerebellar Ataxia Type 9

Search Clinical Trials , NIH Clinical Center for Cerebellar Ataxia Type 9

Genetic Tests for Cerebellar Ataxia Type 9

Genetic tests related to Cerebellar Ataxia Type 9:

# Genetic test Affiliating Genes
1 Cerebellar Ataxia Type 9 29

Anatomical Context for Cerebellar Ataxia Type 9

MalaCards organs/tissues related to Cerebellar Ataxia Type 9:

40
Salivary Gland

Publications for Cerebellar Ataxia Type 9

Articles related to Cerebellar Ataxia Type 9:

# Title Authors PMID Year
1
Two for the price of one: Co-infection with Rickettsia bellii and spotted fever group Rickettsia in Amblyomma (Acari: Ixodidae) ticks recovered from wild birds in Brazil. 61
31402227 2019
2
Fine mapping of the major QTL for seed coat color in Brassica rapa var. Yellow Sarson by use of NIL populations and transcriptome sequencing for identification of the candidate genes. 61
30716096 2019
3
Detection of Rickettsia helvetica and Candidatus R. tarasevichiae DNA in Ixodes persulcatus ticks collected in Northeastern European Russia (Komi Republic). 61
28433730 2017
4
Construction of genetic linkage map and mapping of QTL for seed color in Brassica rapa. 61
23231600 2012
5
The receptor tyrosine kinase inhibitor vandetanib activates Akt and increases side population in a salivary gland tumor cell line (A253). 61
22576692 2012

Variations for Cerebellar Ataxia Type 9

Expression for Cerebellar Ataxia Type 9

Search GEO for disease gene expression data for Cerebellar Ataxia Type 9.

Pathways for Cerebellar Ataxia Type 9

Pathways related to Cerebellar Ataxia Type 9 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.49 PPP2R2B KCND3 KCNC3
2 11.26 SPTBN2 KCND3 KCNC3 FGF14 DAB1 ATXN10

GO Terms for Cerebellar Ataxia Type 9

Cellular components related to Cerebellar Ataxia Type 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuronal cell body GO:0043025 8.92 SPTBN2 KCND3 DAB1 ATXN10

Sources for Cerebellar Ataxia Type 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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