Rare Ataxia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Rare Ataxia

MalaCards integrated aliases for Rare Ataxia:

Name: Rare Ataxia ⁵⁸

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare neurological diseases

External Ids:

Orphanet ⁵⁸ ORPHA102002

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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).

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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:

(show all 12)

#	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	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
10	spastic paraplegia 75, autosomal recessive	9.5	SACS MRE11
11	ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	9.4	SACS MRE11
12	autosomal recessive cerebellar ataxia	9.2	SACS MRE11

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

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Symptoms & Phenotypes for Rare Ataxia

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Drugs & Therapeutics for Rare Ataxia

Search Clinical Trials , NIH Clinical Center for Rare Ataxia

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Genetic Tests for Rare Ataxia

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Anatomical Context for Rare Ataxia

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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. ⁶¹	Hersheson J...Houlden H	22689585	2012
2	Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia. ⁶¹	Fogel BL...Coppola G	22287014	2012
3	Epidemiological evidence for a link between vertigo and migraine. ⁶¹	von Brevern M...Neuhauser H	22348934	2011
4	Assessment of carriers' frequency of a novel MRE11 mutation responsible for the rare ataxia telangiectasia-like disorder. ⁶¹	Alsbeih G...Al-Harbi N	18652530	2008
5	Gene for rare ataxia identified in mouse studies. ⁶¹	Hayward P	14649242	2003
6	Genetic susceptibility to radiation and chemotherapy injury: diagnosis and management. ⁶¹	Busch D	7961005	1994

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Genes for Rare Ataxia

Genes related to Rare Ataxia (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MRE11	MRE11 Homolog, Double Strand Break Repair Nuclease	Protein Coding	6.38	GeneCards inferred via : Publications (show sections)
2	SACS	Sacsin Molecular Chaperone	Protein Coding	6.38	GeneCards inferred via : Publications (show sections)

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Variations for Rare Ataxia

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Expression for Rare Ataxia

Search GEO for disease gene expression data for Rare Ataxia.

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Pathways for Rare Ataxia

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GO Terms for Rare Ataxia

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Sources for Rare Ataxia

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

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¹⁵ DISEASES

¹⁶ DrugBank

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¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia