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, eye and testes, 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, Eye, Testes, Cerebellum, Breast, Skin, Tongue

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:00053697.2PMP22, CACNA1A, ATXN7, ATXN1, AFG3L2, TTPA
2MP:00053767.0MPZ, ATXN2, ATXN1, TBP, GJB1, TTPA
3MP:00053786.3PMP22, CACNA1A, ATXN2, ATXN7, ATXN1, AFG3L2
4MP:00053865.9TDP1, PMP22, CACNA1A, MPZ, ATXN2, ATXN7
5MP:00036315.9ATXN7, ATXN2, MPZ, CACNA1A, PMP22, ATXN3
6MP:00107685.7MPZ, TOP1, CACNA1A, PMP22, C10orf2, ATXN2

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
Progressive cerebellar atrophy: hereditary ataxias and disorders with spinocerebellar degeneration. (23622410)
2013
2
The reciprocal cerebellar circuitry in human hereditary ataxia. (23389921)
2013
3
Hereditary Coproporphyria Associated with the Q306X Mutation in the Coproporphyrin Oxidase Gene Presenting with Acute Ataxia. (24156084)
2013
4
Safety and efficacy of umbilical cord mesenchymal stem cell therapy in hereditary spinocerebellar ataxia. (23151076)
2013
5
Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study. (23609960)
2013
6
VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families. (22958904)
2012
7
Hereditary ataxia, myokymia and neuromyotonia in Jack Russell terriers. (22872628)
2012
8
Human umbilical cord blood-derived mononuclear cell transplantation: case series of 30 subjects with hereditary ataxia. (21575250)
2011
9
Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study. (19339254)
2009
10
Retraction. Withdrawn: Severe ataxia with neuropathy in hereditary gelsolin amyloidosis. (19842787)
2009
11
Simultaneous presentation of 2 rare hereditary immunodeficiencies: IL-12 receptor beta1 deficiency and ataxia-telangiectasia. (18718650)
2008
12
Alexander disease causing hereditary late-onset ataxia with only minimal white matter changes: A report of two sibs. (18581469)
2008
13
Cognition in hereditary ataxia. (17786824)
2007
14
Mapping cerebral blood flow during speech production in hereditary ataxia. (16443374)
2006
15
SCA-7. Cone-rod dystrophy in the context of an hereditary ataxia]. (16311960)
2005
16
Impact of presymptomatic genetic testing for hereditary ataxia and neuromuscular disorders: where is the evidence? (15642867)
2005
17
Eyeblink conditioning in patients with hereditary ataxia: a one-year follow-up study. (15586270)
2005
18
Hereditary paroxysmal ataxia with mental retardation: a clinicopathological study in relation to episodic ataxia type 2. (15300451)
2004
19
Mitochondrial involvement in Parkinson's disease, Huntington's disease, hereditary spastic paraplegia and Friedreich's ataxia. (10076024)
1999
20
The hereditary ataxias. (9630233)
1998
21
Hereditary cerebellar ataxias: from hammer to genetics]. (9629425)
1997
22
Grafted cerebellar cells in a mouse model of hereditary ataxia express IGF-I system genes and partially restore behavioral function. (8564845)
1996
23
Mitochondrial cytopathy presenting as hereditary sensory neuropathy with progressive external ophthalmoplegia, ataxia and fatal myoclonic epileptic status. (8673507)
1996
24
Hereditary myokymia and paroxysmal ataxia linked to chromosome 12 is responsive to acetazolamide. (7561920)
1995
25
Random search for shared chromosomal regions in four affected individuals: the assignment of a new hereditary ataxia locus. (7726163)
1995
26
Hereditary Ataxia Overview (20301317)
1993
27
Linkage analysis in spinopontine atrophy: correlation of HLA linkage with phenotypic findings in hereditary ataxia. (3477098)
1987
28
Periodic alternating nystagmus in a case of hereditary ataxia and its treatment with baclofen. (7143015)
1982
29
Retraction: reduced enzyme activity in hereditary ataxia. (7023353)
1981
30
Hereditary ataxia and the sixth chromosome. (6937161)
1981
31
Genetic linkage in hereditary ataxia. (6101435)
1980
32
A preliminary study of dynamic muscle function in hereditary ataxia. (7214252)
1980
33
A family with hereditary ataxia. (7266406)
1980
34
A family with hereditary ataxia: HLA typing. (7188630)
1980
35
Cellular hypersensitivity to brain antigen in children of a family with hereditary ataxia. (374687)
1979
36
Adult-onset hereditary ataxia in Scotland. (907533)
1977
37
Hereditary ataxia, photomyoclonus, skeletal deformities and lipoma. (1130171)
1975
38
Vestibular dysfunction in hereditary ataxia. (1148822)
1975
39
Failure to vomit in hereditary ataxia. Report of a family. (4736490)
1973
40
Glucose 14C metabolism in rabbit hereditary ataxia. (5435666)
1970
41
Inositide metabolism in rabbit hereditary ataxia. (4293372)
1967
42
Carbohydrate metabolites in rabbit hereditary ataxia. (5912009)
1966
43
Ultrastructural lesions in rabbit hereditary ataxia. (5832261)
1965
44
Hereditary ataxia of rabbits. Histopathological alterations. (14480890)
1962
45
Hereditary ataxia. Linkage studies in hereditary ataxia. (13768204)
1961
46
Hereditary ataxia. (13878865)
1961
47
Hereditary ataxia. (14407625)
1959
48
Retinal degeneration in hereditary ataxia. (13357958)
1956
49
Connections between neural muscle atrophy and hereditary ataxia (Friedreich)]. (14383168)
1955
50
Hereditary ataxia; difference between progeny of male and female affected members and a definition of certain signs useful in detecting the disease prior to onset of clinical symptoms. (13064879)
1953

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:04001510.0FXN, ATXN2
2negative regulation of insulin-like growth factor receptor signaling pathwayGO:0435699.7ATXN1, ATXN7
3protein catabolic processGO:0301639.7SPG7, AFG3L2
4cerebellar Purkinje cell differentiationGO:0217029.4ATXN2, CACNA1A
5negative regulation of phosphorylationGO:0423269.3ATXN1, ATXN7
6nervous system developmentGO:0073999.2ATXN3, CHERP, GJB1, SPG7
7synaptic transmissionGO:0072688.7PMP22, CACNA1A, MPZ, ATXN3
8cell deathGO:0082196.7TDP1, C10orf2, CACNA1A, ATXN2, ATXN7, 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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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