SCA9
MCID: SPN107
MIFTS: 22

Spinocerebellar Ataxia 9 (SCA9)

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

Aliases & Classifications for Spinocerebellar Ataxia 9

MalaCards integrated aliases for Spinocerebellar Ataxia 9:

Name: Spinocerebellar Ataxia 9 58 54 30 74
Sca9 58 54
Spinocerebellar Ataxia Type 9 54

Classifications:



External Ids:

OMIM 58 612876
UMLS 74 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 cone-rod dystrophy and hearing loss 2. An important gene associated with Spinocerebellar Ataxia 9 is SCA9 (Spinocerebellar Ataxia 9). The drugs Bile Acids and Salts and Phytosterol have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and eye.

Description from OMIM: 612876

Related Diseases for Spinocerebellar Ataxia 9

Diseases in the Spinocerebellar Ataxia 2 family:

Spinocerebellar Ataxia 31 Spinocerebellar Ataxia 29
Spinocerebellar Ataxia 34 Spinocerebellar Ataxia 1
Spinocerebellar Ataxia 7 Spinocerebellar Ataxia 6
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 11.3
2 cone-rod dystrophy and hearing loss 2 11.1
3 autosomal dominant cerebellar ataxia 11.1

Symptoms & Phenotypes for Spinocerebellar Ataxia 9

Clinical features from OMIM:

612876

Drugs & Therapeutics for Spinocerebellar Ataxia 9

Drugs for Spinocerebellar Ataxia 9 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Bile Acids and Salts
2 Phytosterol
3 Hydroxymethylglutaryl-CoA Reductase Inhibitors

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Relevance of Plasma PCSK9 Concentration as a Biomarker in Acute Coronary Syndrome. Unknown status NCT01109706

Search 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 30

Anatomical Context for Spinocerebellar Ataxia 9

MalaCards organs/tissues related to Spinocerebellar Ataxia 9:

42
Skin, Liver, Eye

Publications for Spinocerebellar Ataxia 9

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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