SCA9
MCID: CRB222
MIFTS: 22

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 brain and salivary gland, and related phenotype is behavior/neurological.

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 59)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 9 12.0
2 cerebral palsy, ataxic, autosomal recessive 10.3 SPTBN2 KCNC3
3 spastic paraplegia 41, autosomal dominant 10.3 SPTBN2 KCND3
4 cerebellar ataxia type 41 10.3 KCND3 KCNC3
5 spinocerebellar ataxia type 19/22 10.3 KCND3 FGF14
6 far eastern spotted fever 10.3 KCNC3 ATXN10
7 spinocerebellar ataxia 15 10.2 SPTBN2 KCNC3
8 spinocerebellar ataxia 37 10.2 DAB1 ATXN10
9 spinocerebellar ataxia 36 10.2 DAB1 ATXN10
10 spotted fever 10.2 SPTBN2 PLEKHG4
11 israeli tick typhus 10.2 SPTBN2 PLEKHG4
12 brill-zinsser disease 10.2 SPTBN2 PLEKHG4
13 spinocerebellar ataxia 20 10.1 SPTBN2 PLEKHG4
14 endemic typhus 10.1 SPTBN2 PLEKHG4
15 spinocerebellar ataxia 25 10.1 PLEKHG4 FGF14
16 spinocerebellar ataxia, autosomal recessive 14 10.1 SPTBN2 CACNA1A
17 marinesco-sjogren syndrome 10.1 KCNC3 DAB1
18 rocky mountain spotted fever 10.1 SPTBN2 PLEKHG4
19 boutonneuse fever 10.1 SPTBN2 PLEKHG4
20 adolescence-adult electroclinical syndrome 10.0 DAB1 CACNA1A
21 spinocerebellar ataxia, autosomal recessive 8 10.0 SPTBN2 ATXN7
22 autosomal dominant cerebellar ataxia type iii 10.0 PLEKHG4 CACNA1A
23 fragile x-associated tremor/ataxia syndrome 10.0 PPP2R2B ATXN10
24 episodic ataxia, type 1 10.0 KCND3 KCNC3 CACNA1A
25 spastic paraplegia 25, autosomal recessive 9.9 PLEKHG4 KCNC3 FGF14
26 spastic paraplegia 34, x-linked 9.9 PLEKHG4 KCNC3 FGF14
27 tactile agnosia 9.9 PPP2R2B ATXN7
28 spinocerebellar ataxia 13 9.9 SPTBN2 KCND3 KCNC3 FGF14
29 familial adult myoclonic epilepsy 9.9 DAB1 CACNA1A ATXN10
30 spinocerebellar ataxia, autosomal recessive 4 9.8 PLEKHG4 DAB1 CACNA1A
31 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 9.8 CACNA1A ATXN7
32 spinocerebellar ataxia 21 9.8 SPTBN2 PLEKHG4 KCNC3 FGF14
33 spinocerebellar ataxia 18 9.7 SPTBN2 PLEKHG4 ATXN7
34 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 9.7 SPTBN2 CACNA1A ATXN7
35 olivopontocerebellar atrophy 9.7 CACNA1A ATXN7
36 x-linked hereditary ataxia 9.7 PPP2R2B ATXN7 ATXN10
37 huntington disease-like 2 9.7 PPP2R2B ATXN7 ATXN10
38 spinocerebellar ataxia 8 9.7 PPP2R2B ATXN7 ATXN10
39 spinocerebellar ataxia 2 9.7 CACNA1A ATXN7 ATXN10
40 early infantile epileptic encephalopathy 9.7 SPTBN2 FGF14 CACNA1A
41 spinocerebellar ataxia 12 9.6 PPP2R2B CACNA1A ATXN7
42 episodic ataxia, type 6 9.6 SPTBN2 KCNC3 CACNA1A ATXN7
43 spinocerebellar ataxia 31 9.5 PLEKHG4 DAB1 CACNA1A ATXN10
44 ocular motility disease 9.5 CACNA1A ATXN7
45 episodic ataxia, type 2 9.5 SPTBN2 KCNC3 CACNA1A ATXN7
46 cerebellar ataxia type 42 9.5 KCND3 KCNC3 CACNA1A ATXN7
47 spinocerebellar ataxia 10 9.5 PPP2R2B DAB1 ATXN7 ATXN10
48 autosomal recessive cerebellar ataxia 9.5 SPTBN2 CACNA1A ATXN7 ATXN10
49 spinal and bulbar muscular atrophy, x-linked 1 9.4 CACNA1A ATXN7
50 spinocerebellar ataxia 17 9.4 PPP2R2B FGF14 CACNA1A ATXN7

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

MGI Mouse Phenotypes related to Cerebellar Ataxia Type 9:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.23 ATXN7 CACNA1A DAB1 FGF14 KCNC3 KCND3

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
Brain, 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 11.61 PPP2R2B KCND3 KCNC3 CACNA1A
2 11.29 SPTBN2 KCND3 KCNC3 FGF14 DAB1 CACNA1A

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 dendrite GO:0030425 9.26 KCND3 KCNC3 CACNA1A ATXN10
2 neuronal cell body GO:0043025 9.1 SPTBN2 KCND3 KCNC3 DAB1 CACNA1A ATXN10

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

# Name GO ID Score Top Affiliating Genes
1 adult walking behavior GO:0007628 8.96 DAB1 CACNA1A
2 regulation of ion transmembrane transport GO:0034765 8.8 KCND3 KCNC3 CACNA1A

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

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.13 KCND3 KCNC3 CACNA1A
2 voltage-gated ion channel activity GO:0005244 8.8 KCND3 KCNC3 CACNA1A

Sources for Cerebellar Ataxia Type 9

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