MCID: HRD026
MIFTS: 53

Hereditary Ataxia malady

Genetic diseases, Rare diseases, Neuronal diseases categories
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Summaries for Hereditary Ataxia

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19GeneReviews, 33MalaCards
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MalaCards: Hereditary Ataxia, also known as ataxias, hereditary, is related to paraplegia and olivopontocerebellar atrophy. An important gene associated with Hereditary Ataxia is C10orf2 (chromosome 10 open reading frame 2), and among its related pathways is Neural Crest Differentiation. The compounds tdp-1 and dihydroprogesterone have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and testes, and related mouse phenotypes are cellular and reproductive system.

GeneReviews summary for ataxias

Aliases & Classifications for Hereditary Ataxia

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19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 31LifeMap Discovery™, 45Novoseek, 62UMLS, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Aliases & Descriptions:

hereditary ataxia 19 43 20 22 31
ataxias, hereditary 62
ataxias hereditary 45


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ICD1025 G11

Related Diseases for Hereditary Ataxia

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17GeneCards, 18GeneDecks
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Diseases in the Ataxia Neuropathy Spectrum family:

hereditary ataxia C10orf2-Related Ataxia Neuropathy Spectrum Disorders
Polg-Related Ataxia Neuropathy Spectrum Disorders Ataxia

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

(show top 50)    (show all 224)
idRelated DiseaseScoreTop Affiliating Genes
1paraplegia30.5SPG7, AFG3L2
2olivopontocerebellar atrophy30.2ATXN3, ATXN2
3neuropathy30.2C10orf2, PMP22, MPZ, CACNA1A, GJB1
4spinocerebellar ataxia type 730.2ATXN7, ATXN2, CHERP
5spinocerebellar ataxia type 330.1ATXN3
6ataxia with vitamin e deficiency30.0FXN, TTPA
7spinocerebellar ataxia with axonal neuropathy, autosomal recessive30.0TOP1, TDP1
8axonal neuropathy30.0TDP1, TOP1
9neuritis30.0MPZ, PMP22
10cerebellar ataxia30.0C10orf2, ATXN3, ATXN7, ATXN2, AFG3L2, TTPA
11spinocerebellar ataxia29.9C10orf2, ATXN1, ATXN3, ATXN2, TDP1, TBP
12dentatorubral-pallidoluysian atrophy29.8C10orf2, ATXN1, ATXN3, ATXN2, AFG3L2, TBP
13spinocerebellar degeneration29.7ATXN1, ATXN3, ATXN2, CHERP, CACNA1A, TDP1
14friedreich ataxia29.7ATXN1, ATXN3, ATXN2, TTPA, CACNA1A, FXN
15spinocerebellar ataxia type 1729.7CACNA1A, TBP, ATXN2, ATXN7, ATXN1, ATXN3
16spinocerebellar ataxia type 1229.7ATXN1, ATXN3, ATXN7, ATXN2, CACNA1A, TBP
17ataxia11.0
18spasticity10.3
19hereditary spastic paraplegia10.3
20spinocerebellar ataxia 3210.2
21kearns-sayre syndrome10.1ATXN7
22hereditary neuropathy with liability to pressure palsies10.1PMP22
23pelizaeus-merzbacher disease10.1MPZ
24opa3-related 3-methylglutaconic aciduria10.1SPG7
25machado-joseph disease10.1
26ataxia telangiectasia10.1
27cerebritis10.1
28infantile onset spinocerebellar ataxia10.1
29mononeuritis10.1
30peripheral neuropathy10.1
31episodic ataxia type 110.1
32episodic ataxia type 210.1
33boucher neuhauser syndrome10.1
34cerebellar ataxia and hypogonadotropic hypogonadism10.1
35harding ataxia10.1
36spinocerebellar ataxia with dysmorphism10.1
37episodic ataxia type 610.1
38episodic ataxia type 510.1
39ataxia neuropathy spectrum10.1
40episodic ataxia, type 310.1
41spinocerebellar ataxia, autosomal recessive 1310.1
42cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 110.1
43episodic ataxia, type 710.1
44spinocerebellar ataxia 3610.1
45spinocerebellar ataxia 3510.1
46autosomal recessive ataxia due to pex10 deficiency10.1
47spastic ataxia - corneal dystrophy10.1
48machado-joseph disease type 110.1
49machado-joseph disease type 310.1
50machado-joseph disease type 210.1

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



Diseases related to hereditary ataxia

Symptoms for Hereditary Ataxia

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Drugs & Therapeutics for Hereditary Ataxia

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Hereditary Ataxia

Search NIH Clinical Center 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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31LifeMap Discovery™, 33MalaCards
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MalaCards organs/tissues related to Hereditary Ataxia:

33
Brain, Eye, Testes, Tongue, Cerebellum

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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37MGI
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MGI Mouse Phenotypes related to Hereditary Ataxia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053847.9PMP22, AFG3L2, MPZ, CACNA1A, TDP1, FXN
2MP:00053897.7ATXN7, ATXN2, PMP22, TTPA, MPZ, CACNA1A
3MP:00053697.6ATXN1, ATXN7, PMP22, AFG3L2, TTPA, CACNA1A
4MP:00053766.5ATXN1, ATXN2, TTPA, MPZ, CACNA1A, TBP
5MP:00053786.4SPG7, ATXN1, ATXN7, ATXN2, PMP22, AFG3L2
6MP:00053865.8FXN, SPG7, ATXN1, ATXN3, ATXN7, ATXN2
7MP:00036315.8ATXN2, ATXN7, ATXN3, ATXN1, SPG7, PMP22
8MP:00107685.7PMP22, ATXN2, ATXN7, ATXN1, C10orf2, AFG3L2

Publications for Hereditary Ataxia

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52PubMed
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Articles related to Hereditary Ataxia:

(show top 50)    (show all 102)
idTitleAuthorsYear
1
Progressive cerebellar atrophy: hereditary ataxias and disorders with spinocerebellar degeneration. (23622410)
2013
2
Autosomal dominant hereditary ataxia in Sri Lanka. (23634774)
2013
3
The reciprocal cerebellar circuitry in human hereditary ataxia. (23389921)
2013
4
Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study. (19339254)
2009
5
Cognition in hereditary ataxia. (17786824)
2007
6
Mapping cerebral blood flow during speech production in hereditary ataxia. (16443374)
2006
7
SCA-7. Cone-rod dystrophy in the context of an hereditary ataxia]. (16311960)
2005
8
Hereditary ataxia and behavior. (16383226)
2005
9
Hereditary ataxia in the Jack Russell Terrier--clinical and genetic investigations. (15320590)
2004
10
Impact of presymptomatic genetic testing for hereditary ataxia and neuromuscular disorders. (15210524)
2004
11
Non-expanded polyglutamine proteins in intranuclear inclusions of hereditary ataxias--triple-labeling immunofluorescence study. (11563629)
2001
12
Hereditary ataxia. An unfolded protein. (11784584)
2001
13
Distribution of dominant hereditary ataxias and Friedreich's ataxia in the Spanish population]. (10996881)
2000
14
Hereditary spastic paraplegia and hereditary ataxia, Part 2: A family demonstrating various phenotypic manifestations with the SCA3 genotype. (10815141)
2000
15
Genes involved in hereditary ataxias. (9735950)
1998
16
Hereditary ataxia with sensory neuronopathy: Biemond's ataxia. (9008534)
1997
17
The genetic basis of hereditary ataxia. (9193167)
1997
18
Cerebellar grafts partially reverse amino acid receptor changes observed in the cerebellum of mice with hereditary ataxia: quantitative autoradiographic studies. (9171167)
1997
19
Grafted cerebellar cells in a mouse model of hereditary ataxia express IGF-I system genes and partially restore behavioral function. (8564845)
1996
20
Late-onset hereditary ataxia with global thermoanalgesia and absence of fungiform papillae on the tongue in a Japanese family. (8673478)
1996
21
Knowledge of genetics and attitudes toward genetic testing in two hereditary ataxia (SCA 1) kindreds. (7810581)
1994
22
Molecular genetics of hereditary ataxias. (7952848)
1994
23
Metabolic and cognitive changes in hereditary ataxia. (8277326)
1993
24
A dominant hereditary ataxia resembling Machado-Joseph disease in Arnhem Land, Australia. (8414025)
1993
25
The Purkinje cell and its afferents in human hereditary ataxia. (2061716)
1991
26
Linkage analysis in spinopontine atrophy: correlation of HLA linkage with phenotypic findings in hereditary ataxia. (3477098)
1987
27
Menzel's hereditary ataxia with slow eye movements and myoclonus. A clinico-pathological study. (6631453)
1983
28
Periodic alternating nystagmus in a case of hereditary ataxia and its treatment with baclofen. (7161616)
1982
29
Lecithin in hereditary ataxia. (7193833)
1981
30
Retraction: reduced enzyme activity in hereditary ataxia. (7023353)
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
Choline in hereditary ataxia. (497742)
1979
35
Cellular hypersensitivity to brain antigen in children of a family with hereditary ataxia. (374687)
1979
36
Hereditary ataxia. (Indigenous variety). (731064)
1978
37
Adult-onset hereditary ataxia in Scotland. (907533)
1977
38
Protein patterns of cerebrospinal fluid in hereditary ataxias and hereditary spastic paraplegia. (49401)
1975
39
Titubation in hereditary ataxia. (4821687)
1974
40
Glucose 14C metabolism in rabbit hereditary ataxia. (5435666)
1970
41
Hereditary ataxia, presumed to be of the Menzel type, complicated by paranoid psychosis, in a mother and two sons. (5783297)
1969
42
Hereditary ataxia of animals. (5676918)
1968
43
Glycogen and glycolytic intermediates in rabbit hereditary ataxia. (6022138)
1967
44
Inositide metabolism in rabbit hereditary ataxia. (4293372)
1967
45
HEREDITARY ATAXIA IN THE RABBIT: AMINO ACID ANALYSES OF BLOOD AND BRAIN. (14206450)
1964
46
Hereditary ataxia. Linkage studies in hereditary ataxia. (13768204)
1961
47
Hereditary ataxia. (14407625)
1959
48
Retinal degeneration in hereditary ataxia. (13357958)
1956
49
A Case of Friedreich's Hereditary Ataxia: With Necropsy. (20758583)
1899
50
THE LESIONS IN THE CORD FROM A CASE OF FRIEDREICH'S OR HEREDITARY ATAXIA. (19971203)
1898

Variations for Hereditary Ataxia

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Expression for genes affiliated with Hereditary Ataxia

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2BioGPS, 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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50PathCards, 38NCBI BioSystems Database
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Pathways related to Hereditary Ataxia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5GJB1, MPZ, PMP22

Compounds for genes affiliated with Hereditary Ataxia

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45Novoseek, 24HMDB, 11DrugBank, 29IUPHAR, 61Tocris Bioscience
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Compounds related to Hereditary Ataxia according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1tdp-14510.0TOP1, TDP1
2dihydroprogesterone459.8PMP22, MPZ
3tocopherol459.8TBP, TTPA
4phosphodiester459.8TBP, TDP1
5alpha-amanitin459.7TOP1, TBP
6alpha tocopherol459.6FXN, TBP, TTPA
7polyacrylamide459.2ATXN3, ATXN7, ATXN2, TBP
8guanine45 24 1111.1TBP, TOP1, PMP22
9progesterone45 29 61 24 1112.8PMP22, MPZ, TBP, GJB1
10cysteine458.7FXN, GJB1, TBP, MPZ, PMP22, ATXN3
11glutamine456.6TBP, ATXN1, ATXN3, ATXN7, ATXN2, TTPA

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:0163639.1ATXN7, ATXN3, ATXN1
2cytoplasmGO:0057376.8ATXN3, ATXN7, ATXN2, CHERP, CACNA1A, TBP

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of insulin-like growth factor receptor signaling pathwayGO:0435699.7ATXN1, ATXN7
2negative regulation of multicellular organism growthGO:0400159.7FXN, ATXN2
3mitochondrion organizationGO:0070059.6FXN, SPG7
4negative regulation of phosphorylationGO:0423269.5ATXN7, ATXN1
5nervous system developmentGO:0073999.3GJB1, CHERP, ATXN3, SPG7
6adult walking behaviorGO:0076289.3FXN, CACNA1A
7cerebellar Purkinje cell differentiationGO:0217029.2CACNA1A, ATXN2
8synaptic transmissionGO:0072688.7ATXN3, PMP22, MPZ, CACNA1A
9cell deathGO:0082196.8TDP1, SPG7, C10orf2, ATXN1, ATXN3, ATXN7

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

idNameGO IDScoreTop Affiliating Genes
1nucleoside-triphosphatase activityGO:01711110.0AFG3L2, SPG7
2protein bindingGO:0055154.8FXN, SPG7, ATXN1, ATXN3, ATXN7, ATXN2

Products for genes affiliated with Hereditary Ataxia

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  • Antibodies
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Sources for Hereditary Ataxia

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet