MCID: RRT024
MIFTS: 11

Rare Ataxia

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Rare Ataxia

MalaCards integrated aliases for Rare Ataxia:

Name: Rare Ataxia 59

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 ORPHA102002

Summaries for Rare Ataxia

MalaCards based summary : Rare Ataxia is related to neuraminidase deficiency and ataxia and polyneuropathy, adult-onset. An important gene associated with Rare Ataxia is MRE11 (MRE11 Homolog, Double Strand Break Repair Nuclease).

Related Diseases for Rare Ataxia

Diseases in the Rare Ataxia family:

Hereditary Ataxia Rare Hereditary Ataxia
Acquired Ataxia

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

# Related Disease Score Top Affiliating Genes
1 neuraminidase deficiency 10.9
2 ataxia and polyneuropathy, adult-onset 9.9
3 machado-joseph disease 9.6
4 ataxia-telangiectasia 9.6
5 friedreich ataxia 1 9.6
6 aceruloplasminemia 9.6
7 ataxia-telangiectasia-like disorder 1 9.6
8 telangiectasis 9.6
9 autosomal dominant cerebellar ataxia 9.6

Graphical network of the top 20 diseases related to Rare Ataxia:



Diseases related to Rare Ataxia

Symptoms & Phenotypes for Rare Ataxia

Drugs & Therapeutics for Rare Ataxia

Search Clinical Trials , NIH Clinical Center for Rare Ataxia

Genetic Tests for Rare Ataxia

Anatomical Context for Rare Ataxia

Publications for Rare Ataxia

Articles related to Rare Ataxia:

# Title Authors PMID Year
1
The inherited ataxias: genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics. 38
22689585 2012
2
Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia. 38
22287014 2012
3
Epidemiological evidence for a link between vertigo and migraine. 38
22348934 2011
4
Assessment of carriers' frequency of a novel MRE11 mutation responsible for the rare ataxia telangiectasia-like disorder. 38
18652530 2008
5
Gene for rare ataxia identified in mouse studies. 38
14649242 2003
6
Genetic susceptibility to radiation and chemotherapy injury: diagnosis and management. 38
7961005 1994

Variations for Rare Ataxia

Expression for Rare Ataxia

Search GEO for disease gene expression data for Rare Ataxia.

Pathways for Rare Ataxia

GO Terms for Rare Ataxia

Sources for Rare 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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