MCID: XLN076
MIFTS: 14

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

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 anemia, sideroblastic, and spinocerebellar ataxia and anemia, sideroblastic, 1. An important gene associated with X-Linked Cerebellar Ataxia is ABCB7 (ATP Binding Cassette Subfamily B Member 7).

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

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 cell GO:0005623 8.96 ALAS2 ABCB7
2 mitochondrial inner membrane GO:0005743 8.62 ALAS2 ABCB7

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

# Name GO ID Score Top Affiliating Genes
1 cellular iron ion homeostasis GO:0006879 8.62 ALAS2 ABCB7

Sources for X-Linked Cerebellar Ataxia

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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