SCA9
MCID: SPN107
MIFTS: 18

Spinocerebellar Ataxia 9 (SCA9)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Spinocerebellar Ataxia 9

MalaCards integrated aliases for Spinocerebellar Ataxia 9:

Name: Spinocerebellar Ataxia 9 56 52 29 71
Sca9 56 52
Spinocerebellar Ataxia Type 9 52

Classifications:



External Ids:

OMIM 56 612876
OMIM Phenotypic Series 56 PS164400
UMLS 71 C3887996

Summaries for Spinocerebellar Ataxia 9

MalaCards based summary : Spinocerebellar Ataxia 9, also known as sca9, is related to coenzyme q10 deficiency, primary, 4 and autosomal dominant cerebellar ataxia. An important gene associated with Spinocerebellar Ataxia 9 is SCA9 (Spinocerebellar Ataxia 9). Affiliated tissues include salivary gland, eye and liver.

More information from OMIM: 612876 PS164400

Related Diseases for Spinocerebellar Ataxia 9

Diseases in the Spinocerebellar Ataxia 6 family:

Spinocerebellar Ataxia 31 Spinocerebellar Ataxia 29
Spinocerebellar Ataxia 34 Spinocerebellar Ataxia 1
Spinocerebellar Ataxia 7 Spinocerebellar Ataxia 2
Spinocerebellar Ataxia, Autosomal Recessive 2 Spinocerebellar Ataxia, Autosomal Recessive 3
Spinocerebellar Ataxia 4 Spinocerebellar Ataxia 5
Spinocerebellar Ataxia 10 Spinocerebellar Ataxia 12
Spinocerebellar Ataxia 11 Spinocerebellar Ataxia 13
Spinocerebellar Ataxia 14 Spinocerebellar Ataxia 15
Spinocerebellar Ataxia 17 Spinocerebellar Ataxia, Autosomal Recessive 4
Spinocerebellar Ataxia 19 Spinocerebellar Ataxia 21
Spinocerebellar Ataxia 18 Spinocerebellar Ataxia, Autosomal Recessive 6
Spinocerebellar Ataxia 20 Spinocerebellar Ataxia 25
Spinocerebellar Ataxia 8 Spinocerebellar Ataxia, Autosomal Recessive 7
Spinocerebellar Ataxia 26 Spinocerebellar Ataxia 27
Spinocerebellar Ataxia 23 Spinocerebellar Ataxia 28
Spinocerebellar Ataxia, Autosomal Recessive 8 Spinocerebellar Ataxia 9
Spinocerebellar Ataxia 30 Spinocerebellar Ataxia, Autosomal Recessive 10
Spinocerebellar Ataxia 35 Spinocerebellar Ataxia 32
Spinocerebellar Ataxia 36 Spinocerebellar Ataxia, Autosomal Recessive 11
Spinocerebellar Ataxia, Autosomal Recessive 12 Spinocerebellar Ataxia, Autosomal Recessive 13
Spinocerebellar Ataxia, Autosomal Recessive 14 Spinocerebellar Ataxia, Autosomal Recessive 15
Spinocerebellar Ataxia, Autosomal Recessive 16 Spinocerebellar Ataxia 37
Spinocerebellar Ataxia 38 Spinocerebellar Ataxia 40
Spinocerebellar Ataxia, Autosomal Recessive 17 Spinocerebellar Ataxia, Autosomal Recessive 18
Spinocerebellar Ataxia, Autosomal Recessive 20 Spinocerebellar Ataxia 41
Spinocerebellar Ataxia, Autosomal Recessive 21 Spinocerebellar Ataxia 42
Spinocerebellar Ataxia, Autosomal Recessive 22 Spinocerebellar Ataxia, Autosomal Recessive 23
Spinocerebellar Ataxia 43 Spinocerebellar Ataxia, Autosomal Recessive 24
Spinocerebellar Ataxia, Autosomal Recessive 25 Spinocerebellar Ataxia, Autosomal Recessive 26
Spinocerebellar Ataxia 44 Spinocerebellar Ataxia 45
Spinocerebellar Ataxia 46 Spinocerebellar Ataxia 47
Spinocerebellar Ataxia 48 Spinocerebellar Ataxia, Autosomal Recessive 27
Spinocerebellar Ataxia Type 19/22 Grid2-Related Spinocerebellar Ataxia
Spinocerebellar Ataxia Autosomal Recessive 5

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

# Related Disease Score Top Affiliating Genes
1 coenzyme q10 deficiency, primary, 4 11.4
2 autosomal dominant cerebellar ataxia 11.3

Symptoms & Phenotypes for Spinocerebellar Ataxia 9

Clinical features from OMIM:

612876

Drugs & Therapeutics for Spinocerebellar Ataxia 9

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia 9

Genetic Tests for Spinocerebellar Ataxia 9

Genetic tests related to Spinocerebellar Ataxia 9:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 9 29

Anatomical Context for Spinocerebellar Ataxia 9

MalaCards organs/tissues related to Spinocerebellar Ataxia 9:

40
Salivary Gland, Eye, Liver, Skin

Publications for Spinocerebellar Ataxia 9

Articles related to Spinocerebellar Ataxia 9:

# Title Authors PMID Year
1
Evidence for a new spinocerebellar ataxia locus. 56
9159738 1997
2
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
3
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
4
Detection of Rickettsia helvetica and Candidatus R. tarasevichiae DNA in Ixodes persulcatus ticks collected in Northeastern European Russia (Komi Republic). 61
28433730 2017
5
Construction of genetic linkage map and mapping of QTL for seed color in Brassica rapa. 61
23231600 2012
6
The receptor tyrosine kinase inhibitor vandetanib activates Akt and increases side population in a salivary gland tumor cell line (A253). 61
22576692 2012
7
[Frequency of hereditary neurologic diseases. A clinical study]. 61
8247316 1993

Variations for Spinocerebellar Ataxia 9

Expression for Spinocerebellar Ataxia 9

Search GEO for disease gene expression data for Spinocerebellar Ataxia 9.

Pathways for Spinocerebellar Ataxia 9

GO Terms for Spinocerebellar Ataxia 9

Sources for Spinocerebellar Ataxia 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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