MCID: XLN076
MIFTS: 10

X-Linked Cerebellar Ataxia

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for X-Linked Cerebellar Ataxia

MalaCards integrated aliases for X-Linked Cerebellar Ataxia:

Name: X-Linked Cerebellar Ataxia 59

Characteristics:

Orphanet epidemiological data:

59
x-linked cerebellar ataxia
Inheritance: X-linked dominant,X-linked recessive;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 34 G11.1
Orphanet 59 ORPHA247765

Summaries for X-Linked Cerebellar Ataxia

MalaCards based summary : X-Linked Cerebellar Ataxia is related to anemia, sideroblastic, 1 and sideroblastic anemia. 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

Diseases related to X-Linked Cerebellar Ataxia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 anemia, sideroblastic, 1 29.4 ALAS2 ABCB7
2 sideroblastic anemia 28.9 ALAS2 ABCB7
3 anemia, sideroblastic, and spinocerebellar ataxia 10.1
4 ataxia and polyneuropathy, adult-onset 10.1
5 aceruloplasminemia 10.1
6 atransferrinemia 9.5 ALAS2 ABCB7
7 hemochromatosis, type 1 9.5 ALAS2 ABCB7
8 x-linked recessive disease 9.4 ALAS2 ABCB7

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. 38
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 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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