MCID: XLN076
MIFTS: 21

X-Linked Cerebellar Ataxia

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for X-Linked Cerebellar Ataxia

MalaCards integrated aliases for X-Linked Cerebellar Ataxia:

Name: X-Linked Cerebellar Ataxia 12 58 15

Characteristics:

Orphanet epidemiological data:

58
x-linked cerebellar ataxia
Inheritance: X-linked dominant,X-linked recessive;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0111828
ICD10 via Orphanet 33 G11.1
Orphanet 58 ORPHA247765

Summaries for X-Linked Cerebellar Ataxia

Disease Ontology : 12 A hereditary ataxia characterized by X-linked inheritance.

MalaCards based summary : X-Linked Cerebellar Ataxia is related to spinocerebellar ataxia, x-linked 2 and spinocerebellar ataxia, x-linked 5. An important gene associated with X-Linked Cerebellar Ataxia is ABCB7 (ATP Binding Cassette Subfamily B Member 7), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and CREB Pathway.

Related Diseases for X-Linked Cerebellar Ataxia

Graphical network of the top 20 diseases related to X-Linked Cerebellar Ataxia:



Diseases related to X-Linked Cerebellar Ataxia

Symptoms & Phenotypes for X-Linked Cerebellar Ataxia

Drugs & Therapeutics for X-Linked Cerebellar Ataxia

Search Clinical Trials , NIH Clinical Center for X-Linked Cerebellar Ataxia

Genetic Tests for X-Linked Cerebellar Ataxia

Anatomical Context for X-Linked Cerebellar Ataxia

Publications for X-Linked Cerebellar Ataxia

Articles related to X-Linked Cerebellar Ataxia:

# Title Authors PMID Year
1
X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L. 61
11843825 2001

Variations for X-Linked Cerebellar Ataxia

Expression for X-Linked Cerebellar Ataxia

Search GEO for disease gene expression data for X-Linked Cerebellar Ataxia.

Pathways for X-Linked Cerebellar Ataxia

Pathways related to X-Linked Cerebellar Ataxia according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.04 ATP2B4 ATP2B3 ATP2B2 ATP2B1 ABCB7
2
Show member pathways
13.02 PPP3R1 FGF17 FGF14 ATP2B3 ATP2B2 ATP2B1
3
Show member pathways
12.57 ATP2B4 ATP2B3 ATP2B2 ATP2B1
4
Show member pathways
12.46 SORBS3 FGF14 ATP2B4 ATP2B3 ATP2B2 ATP2B1
5
Show member pathways
12.27 ATP2B4 ATP2B3 ATP2B2 ATP2B1
6
Show member pathways
12.22 PPP3R1 ATP2B4 ATP2B3 ATP2B2 ATP2B1
7
Show member pathways
12.17 ATP2B4 ATP2B3 ATP2B2 ATP2B1
8 12.04 ATP2B4 ATP2B3 ATP2B2 ATP2B1
9
Show member pathways
11.95 ATP2B4 ATP2B3 ATP2B2 ATP2B1
10 11.48 PPP3R1 FGF17 ATP2B4 ATP2B3 ATP2B2 ATP2B1
11 11.23 ATP2B4 ATP2B3 ATP2B2 ATP2B1
12 10.98 ATP2B4 ATP2B3 ATP2B2 ATP2B1

GO Terms for X-Linked Cerebellar Ataxia

Cellular components related to X-Linked Cerebellar Ataxia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 glutamatergic synapse GO:0098978 9.26 ATP2B4 ATP2B3 ATP2B2 ATP2B1
2 integral component of presynaptic active zone membrane GO:0099059 9.16 ATP2B4 ATP2B1
3 GABA-ergic synapse GO:0098982 8.8 ATP2B3 ATP2B2 ATP2B1

Biological processes related to X-Linked Cerebellar Ataxia according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.8 ATP2B4 ATP2B3 ATP2B2 ATP2B1
2 ion transmembrane transport GO:0034220 9.76 ATP2B4 ATP2B3 ATP2B2 ATP2B1
3 calcium ion transport GO:0006816 9.67 ATP2B4 ATP2B3 ATP2B2 ATP2B1
4 calcium ion transmembrane transport GO:0070588 9.62 ATP2B4 ATP2B3 ATP2B2 ATP2B1
5 cellular calcium ion homeostasis GO:0006874 9.56 ATP2B4 ATP2B3 ATP2B2 ATP2B1
6 neural retina development GO:0003407 9.48 ATP2B4 ATP2B1
7 calcium ion export across plasma membrane GO:1990034 9.43 ATP2B3 ATP2B1
8 calcium ion export GO:1901660 9.4 ATP2B4 ATP2B1
9 regulation of presynaptic cytosolic calcium ion concentration GO:0099509 9.33 ATP2B3 ATP2B2 ATP2B1
10 regulation of cardiac conduction GO:1903779 9.26 ATP2B4 ATP2B3 ATP2B2 ATP2B1
11 regulation of cytosolic calcium ion concentration GO:0051480 8.92 ATP2B4 ATP2B3 ATP2B2 ATP2B1

Molecular functions related to X-Linked Cerebellar Ataxia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.91 PAICS ATP2B4 ATP2B3 ATP2B2 ATP2B1 ABCB7
2 ATP binding GO:0005524 9.88 PAICS ATP2B4 ATP2B3 ATP2B2 ATP2B1 ABCB7
3 calmodulin binding GO:0005516 9.72 PPP3R1 ATP2B4 ATP2B3 ATP2B2 ATP2B1
4 PDZ domain binding GO:0030165 9.67 ATP2B4 ATP2B3 ATP2B2 ATP2B1
5 sodium channel regulator activity GO:0017080 9.46 FGF14 ATP2B4
6 calcium ion transmembrane transporter activity GO:0015085 9.43 ATP2B4 ATP2B3 ATP2B1
7 calcium-transporting ATPase activity involved in regulation of presynaptic cytosolic calcium ion concentration GO:1905056 9.33 ATP2B3 ATP2B2 ATP2B1
8 cation-transporting ATPase activity GO:0019829 9.26 ATP2B4 ATP2B3 ATP2B2 ATP2B1
9 calcium-transporting ATPase activity GO:0005388 8.92 ATP2B4 ATP2B3 ATP2B2 ATP2B1

Sources for X-Linked Cerebellar Ataxia

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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