MCID: HRD026
MIFTS: 48

Hereditary Ataxia malady

Neuronal diseases category

Summaries for Hereditary Ataxia

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19GeneReviews, 32MalaCards
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MalaCards: Hereditary Ataxia, also known as ataxias, hereditary, is related to paraplegia and cerebellar ataxia. An important gene associated with Hereditary Ataxia is TTPA (tocopherol (alpha) transfer protein), and among its related pathways is Neural Crest Differentiation. The compounds tdp-1 and phosphodiester have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and eye, and related mouse phenotypes are muscle and homeostasis/metabolism.

GeneReviews summary for ataxias

Aliases & Classifications for Hereditary Ataxia

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19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 30LifeMap Discovery™, 44Novoseek, 60UMLS, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases


Aliases & Descriptions:

hereditary ataxia 19 42 20 22 30
ataxias, hereditary 60
ataxias hereditary 44


External Ids:

ICD1025 G11

Related Diseases for Hereditary Ataxia

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17GeneCards, 18GeneDecks
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Diseases related to Hereditary Ataxia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 201)
idRelated DiseaseScoreTop Affiliating Genes
1paraplegia30.4SPG7, AFG3L2
2cerebellar ataxia30.3ATXN2, CACNA1A, C10orf2, ATXN7, ATXN3, FXN
3neuropathy30.2GJB1, C10orf2, PMP22, CACNA1A, MPZ
4spinocerebellar ataxia30.1C10orf2, CACNA1A, ATXN2, ATXN3, ATXN1, AFG3L2
5olivopontocerebellar atrophy30.1ATXN3, ATXN2
6spinocerebellar ataxia type 730.1ATXN2, ATXN7, CHERP
7friedreich ataxia30.0CACNA1A, ATXN2, ATXN3, ATXN1, TTPA, FXN
8spinocerebellar ataxia type 329.8ATXN3
9ataxia with vitamin e deficiency29.8TTPA, FXN
10axonal neuropathy29.8TDP1, TOP1
11spinocerebellar ataxia with axonal neuropathy, autosomal recessive29.8TOP1, TDP1
12spinocerebellar degeneration29.8TDP1, CHERP, ATXN1, CACNA1A, ATXN2, ATXN3
13spinocerebellar ataxia type 1229.8CACNA1A, ATXN2, ATXN7, ATXN3, ATXN1, TBP
14spinocerebellar ataxia type 1729.8CACNA1A, ATXN2, ATXN7, ATXN3, ATXN1, TBP
15dentatorubral-pallidoluysian atrophy29.8CACNA1A, ATXN2, ATXN7, ATXN3, ATXN1, TBP
16hereditary spastic paraplegia10.3
17spinocerebellar ataxia 3210.2
18machado-joseph disease10.1
19ataxia telangiectasia10.1
20cerebritis10.1
21infantile onset spinocerebellar ataxia10.1
22mononeuritis10.1
23peripheral neuropathy10.1
24episodic ataxia type 110.1
25episodic ataxia type 210.1
26harding ataxia10.1
27cerebellar ataxia and hypogonadotropic hypogonadism10.1
28spinocerebellar ataxia with dysmorphism10.1
29episodic ataxia type 610.1
30episodic ataxia type 510.1
31ataxia neuropathy spectrum10.1
32episodic ataxia, type 310.1
33spinocerebellar ataxia, autosomal recessive 1310.1
34cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 110.1
35episodic ataxia, type 710.1
36spinocerebellar ataxia 3610.1
37spinocerebellar ataxia 3510.1
38ataxia - hypogonadism - choroidal dystrophy10.1
39autosomal recessive ataxia due to pex10 deficiency10.1
40spastic ataxia - corneal dystrophy10.1
41machado-joseph disease type 110.1
42machado-joseph disease type 310.1
43machado-joseph disease type 210.1
44spinocerebellar ataxia with altered vertical eye movements10.1
45autosomal recessive cerebellar ataxia with late-onset spasticity10.1
46episodic ataxia type 410.1
47autosomal dominant cerebellar ataxia type 110.1
48autosomal dominant cerebellar ataxia type 310.1
49autosomal dominant cerebellar ataxia type 410.1
50ophthalmoplegia10.0ATXN7

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



Diseases related to hereditary ataxia

Clinical Features for Hereditary Ataxia

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Drugs & Therapeutics for Hereditary Ataxia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Hereditary Ataxia

Drug clinical trials:

Search ClinicalTrials for Hereditary Ataxia

Search NIH Clinical Center for Hereditary Ataxia

Search CenterWatch for Hereditary Ataxia

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Hereditary Ataxia cell therapies at LifeMap Discovery.

Genetic Tests for Hereditary Ataxia

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20GeneTests, 22GTR
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Genetic tests related to Hereditary Ataxia:

id Genetic test Affiliating Genes
1 Hereditary Ataxias20
2 Hereditary Ataxia22

Anatomical Context for Hereditary Ataxia

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30LifeMap Discovery™, 32MalaCards
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MalaCards organs/tissues related to Hereditary Ataxia:

32
Brain, Testes, Eye, Skin, Tongue, Cerebellum, Breast

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Hereditary Ataxia:
id TissueAnatomical CompartmentCell Relevance
1 Umbilical CordWharton's JellyMesenchymal Stem Cells Potential therapeutic candidate

Animal Models for Hereditary Ataxia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Hereditary Ataxia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053697.2FXN, TTPA, AFG3L2, ATXN1, ATXN7, CACNA1A
2MP:00053767.0CACNA1A, ATXN2, ATXN1, TBP, GJB1, TTPA
3MP:00053786.3CACNA1A, FXN, GJB1, TBP, AFG3L2, ATXN1
4MP:00053865.9TTPA, CACNA1A, ATXN2, ATXN7, ATXN3, ATXN1
5MP:00036315.9TDP1, PMP22, CACNA1A, MPZ, ATXN2, ATXN7
6MP:00107685.7C10orf2, FXN, GJB1, TBP, AFG3L2, ATXN1

Publications for Hereditary Ataxia

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50PubMed
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Articles related to Hereditary Ataxia:

(show top 50)    (show all 141)
idTitleAuthorsYear
1
Friedreich's ataxia and other hereditary ataxias in Greece: An 18-year perspective. (24209901)
2014
2
Autosomal dominant hereditary ataxia in Sri Lanka. (23634774)
2013
3
Gluten ataxia of sporadic and hereditary cerebellar ataxia in patients from mainland China. (23860139)
2013
4
Hereditary ataxia in Jack Russell terriers in the UK. (22634896)
2012
5
Optic atrophy differentially diagnosed as spinocerebellar ataxia from Leber hereditary optic neuropathy by gene mutation analysis. (23206485)
2012
6
Yet another gene mutation: dysfunction in mitochondrial protein quality control causing hereditary ataxia. (20738332)
2010
7
New aspects of hereditary ataxia in smooth-haired fox terriers. (20435980)
2010
8
Late onset hereditary episodic ataxia. (19372292)
2009
9
Studies on the CAG repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese Han]. (19953482)
2009
10
Chronic cerebellar ataxia and hereditary hemochromatosis: causal or coincidental association? (17450315)
2007
11
Severe ataxia with neuropathy in hereditary gelsolin amyloidosis: a case report. (17453628)
2007
12
Evaluation of the role of Finnish ataxia-telangiectasia mutations in hereditary predisposition to breast cancer. (17166884)
2007
13
Hereditary ataxia, spastic paraparesis and neuropathy in the French-Canadian population. (16736723)
2006
14
Hereditary ataxia and behavior. (16383226)
2005
15
Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. (15148151)
2004
16
Olfactory dysfunction in hereditary ataxia and basal ganglia disorders. (12876469)
2003
17
A locus for autosomal dominant hereditary spastic ataxia, SAX1, maps to chromosome 12p13. (11774073)
2002
18
A line of Berlin Druckrey IV rats proposed as a new model for human hereditary ataxia. (12224135)
2002
19
Hereditary ataxia. An unfolded protein. (11784584)
2001
20
Gluten sensitivity in sporadic and hereditary cerebellar ataxia. (11310636)
2001
21
Hereditary ataxia. Finding balance. (11784585)
2001
22
Distribution of dominant hereditary ataxias and Friedreich's ataxia in the Spanish population]. (10996881)
2000
23
CAG trinucleotide mutation detection in patients with hereditary spinocerebellar ataxia]. (10514531)
1999
24
Genes involved in hereditary ataxias. (9735950)
1998
25
Cerebellar grafts partially reverse amino acid receptor changes observed in the cerebellum of mice with hereditary ataxia: quantitative autoradiographic studies. (9171167)
1997
26
Late-onset hereditary ataxia with global thermoanalgesia and absence of fungiform papillae on the tongue in a Japanese family. (8673478)
1996
27
Treatment of hereditary ataxia with the levorotatory form of hydroxytryptophan. (7733833)
1995
28
Knowledge of genetics and attitudes toward genetic testing in two hereditary ataxia (SCA 1) kindreds. (7810581)
1994
29
Molecular genetics of hereditary ataxias. (7952848)
1994
30
Infantile onset spinocerebellar ataxia represents an allelic disease distinct from other hereditary ataxias. (7877879)
1994
31
Ataxia-telangiectasis: a multisystem hereditary disease with immunodeficiency, impaired organ maturation, x-ray hypersensitivity, and a high incidence of neoplasia. (6193747)
1983
32
Lecithin in hereditary ataxia. (7193833)
1981
33
Linkage investigations in two families with hereditary ataxia. (7276965)
1981
34
Atrophic maculopathy associated with hereditary ataxia. (7446640)
1980
35
Choline in hereditary ataxia. (497742)
1979
36
Hereditary ataxia. (Indigenous variety). (731064)
1978
37
Inborn errors of amino acid metabolism and hereditary ataxia. (735926)
1978
38
Slow eye movements, with absent saccades, in a patient with hereditary ataxia. (843251)
1977
39
Hereditary myokymia and periodic ataxia. (1170284)
1975
40
Protein patterns of cerebrospinal fluid in hereditary ataxias and hereditary spastic paraplegia. (49401)
1975
41
Titubation in hereditary ataxia. (4821687)
1974
42
Letter: Hereditary ataxia and HL-A. (4833925)
1974
43
Hereditary cerebellar ataxia associated with congenital cataracts. 4 cases of the Marinesco-SjAPgren syndrome with some unusual features. (4514347)
1972
44
Machado disease. A hereditary ataxia in Portuguese emigrants to Massachusetts. (5061839)
1972
45
Ulcero-mutilating acropathy, hereditary sensory neuropathy and signs of Friedreich heredo-ataxia in two brothers. (5556920)
1971
46
Hereditary ataxia, presumed to be of the Menzel type, complicated by paranoid psychosis, in a mother and two sons. (5783297)
1969
47
HEREDITARY ATAXIA IN THE RABBIT: AMINO ACID ANALYSES OF BLOOD AND BRAIN. (14206450)
1964
48
On a possible relationship between hereditary ataxia and peroneal muscular atrophy; with a critical review of the problems of intermediate forms in the degenerative disorders of the central nervous system. (18114340)
1948
49
A typical hereditary ataxia. (21007895)
1945
50
Hereditary ataxia. (21005992)
1945

Genetic Variations for Hereditary Ataxia

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Expression for genes affiliated with Hereditary Ataxia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hereditary Ataxia

Search GEO for disease gene expression data for Hereditary Ataxia.

Pathways for genes affiliated with Hereditary Ataxia

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37NCBI BioSystems Database
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Pathways related to Hereditary Ataxia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6GJB1, MPZ, PMP22

Compounds for genes affiliated with Hereditary Ataxia

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44Novoseek
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Compounds related to Hereditary Ataxia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1tdp-1449.8TOP1, TDP1
2phosphodiester449.7TDP1, TBP
3alpha tocopherol449.6FXN, TTPA, TBP
4dihydroprogesterone449.5PMP22, MPZ
5alpha-amanitin449.4TOP1, TBP
6polyacrylamide449.4TBP, ATXN3, ATXN7, ATXN2
7cysteine448.7PMP22, MPZ, ATXN3, TBP, GJB1, FXN
8glutamine446.7TTPA, CACNA1A, TOP1, ATXN2, ATXN7, ATXN3

GO Terms for genes affiliated with Hereditary Ataxia

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16Gene Ontology
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Cellular components related to Hereditary Ataxia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nuclear matrixGO:0163639.4ATXN1, ATXN3, ATXN7
2nuclear inclusion bodyGO:0424059.3ATXN1, ATXN3

Biological processes related to Hereditary Ataxia according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of multicellular organism growthGO:04001510.0ATXN2, FXN
2negative regulation of insulin-like growth factor receptor signaling pathwayGO:0435699.7ATXN7, ATXN1
3protein catabolic processGO:0301639.7AFG3L2, SPG7
4cerebellar Purkinje cell differentiationGO:0217029.4ATXN2, CACNA1A
5negative regulation of phosphorylationGO:0423269.3ATXN1, ATXN7
6nervous system developmentGO:0073999.2ATXN3, CHERP, GJB1, SPG7
7synaptic transmissionGO:0072688.7MPZ, ATXN3, CACNA1A, PMP22
8cell deathGO:0082196.7ATXN7, TBP, SPG7, TDP1, ATXN1, ATXN3

Molecular functions related to Hereditary Ataxia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055155.1TDP1, CACNA1A, TOP1, ATXN2, ATXN7, ATXN3

Products for genes affiliated with Hereditary Ataxia

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  • Antibodies
  • Proteins
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  • Antibodies

Sources for Hereditary Ataxia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet