MCID: HRD026
MIFTS: 53

Hereditary Ataxia malady

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

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MalaCards based summary: Hereditary Ataxia, also known as ataxias, hereditary, is related to machado-joseph disease and paraplegia. 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 eye, brain and testes, and related mouse phenotypes are cellular and reproductive system.

GeneReviews summary for ataxias

Aliases & Classifications for Hereditary Ataxia

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Hereditary Ataxia, Aliases & Descriptions:

Name: Hereditary Ataxia 30 19 42 20 22
Ataxias, Hereditary 62
 
Ataxias Hereditary 44


Classifications:



External Ids:

ICD1025 G11

Related Diseases for Hereditary Ataxia

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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 218)
idRelated DiseaseScoreTop Affiliating Genes
1machado-joseph disease31.1ATXN3
2paraplegia31.0SPG7, AFG3L2
3olivopontocerebellar atrophy30.5ATXN3, ATXN2
4ataxia with vitamin e deficiency30.5FXN, TTPA
5spinocerebellar ataxia type 730.4ATXN7, ATXN2, CHERP
6spinocerebellar ataxia with axonal neuropathy, autosomal recessive30.4TOP1, TDP1
7axonal neuropathy30.3TDP1, TOP1
8neuritis30.2MPZ, PMP22
9neuropathy30.1C10orf2, PMP22, MPZ, CACNA1A, GJB1
10cerebellar ataxia29.4C10orf2, ATXN3, ATXN7, ATXN2, AFG3L2, TTPA
11friedreich ataxia29.3ATXN1, ATXN3, ATXN2, TTPA, CACNA1A, FXN
12dentatorubral-pallidoluysian atrophy29.2C10orf2, ATXN1, ATXN3, ATXN2, AFG3L2, TBP
13spinocerebellar degeneration29.1ATXN1, ATXN3, ATXN2, CHERP, CACNA1A, TDP1
14spinocerebellar ataxia type 1729.0CACNA1A, TBP, ATXN2, ATXN7, ATXN1, ATXN3
15spinocerebellar ataxia type 1229.0ATXN1, ATXN3, ATXN7, ATXN2, CACNA1A, TBP
16spinocerebellar ataxia28.9C10orf2, ATXN1, ATXN3, ATXN2, TDP1, TBP
17ataxia11.0
18kearns-sayre syndrome10.5ATXN7
19hereditary neuropathy with liability to pressure palsies10.5PMP22
20pelizaeus-merzbacher disease10.4MPZ
21opa3-related 3-methylglutaconic aciduria10.4SPG7
22spasticity10.4
23charcot-marie-tooth neuropathy type 210.4MPZ
24polyradiculoneuropathy10.4PMP22
25apraxia10.3TTPA, FXN
26hepatic encephalopathy10.3ATXN3, CHERP
27charcot-marie-tooth neuropathy type 1a10.3PMP22, MPZ
28charcot-marie-tooth disease type 410.3PMP22, MPZ
29chronic inflammatory demyelinating polyneuropathy10.3MPZ, PMP22
30brachial plexus neuropathy10.3MPZ, PMP22
31charcot-marie-tooth neuropathy type 110.3PMP22, MPZ
32hereditary spastic paraplegia10.3
33guillain-barre syndrome10.3PMP22, MPZ
34diabetic neuropathy10.3MPZ, PMP22
35spinocerebellar ataxia 3210.2
36inherited peripheral neuropathy10.2PMP22, MPZ, GJB1
37tooth disease10.2GJB1, MPZ, PMP22
38charcot-marie-tooth disease type 310.2PMP22, MPZ, GJB1
39hereditary neuropathies10.2GJB1, MPZ, PMP22
40mitochondrial disorders10.2FXN, C10orf2
41polyneuropathy10.2PMP22, MPZ, GJB1
42charcot-marie-tooth disease10.2PMP22, MPZ, GJB1
43sensorineural hearing loss10.1GJB1, PMP22
44ataxia telangiectasia10.1
45infantile onset spinocerebellar ataxia10.1
46cerebritis10.1
47mononeuritis10.1
48peripheral neuropathy10.1
49episodic ataxia type 110.1
50episodic ataxia 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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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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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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MalaCards organs/tissues related to Hereditary Ataxia:

32
Eye, Brain, Testes, Cerebellum, 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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MGI Mouse Phenotypes related to Hereditary Ataxia:

36
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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Articles related to Hereditary Ataxia:

(show top 50)    (show all 109)
idTitleAuthorsYear
1
The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. (24603320)
2014
2
Hereditary ataxia in Jack Russell terriers in the UK. (24736826)
2014
3
The global epidemiology of hereditary ataxia and spastic paraplegia: what are the messages? (24603355)
2014
4
Canine hereditary ataxia in old english sheepdogs and gordon setters is associated with a defect in the autophagy gene encoding RAB24. (24516392)
2014
5
Progressive cerebellar atrophy: hereditary ataxias and disorders with spinocerebellar degeneration. (23622410)
2013
6
Autosomal dominant hereditary ataxia in Sri Lanka. (23634774)
2013
7
Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study. (19339254)
2009
8
Cognition in hereditary ataxia. (17786824)
2007
9
Mapping cerebral blood flow during speech production in hereditary ataxia. (16443374)
2006
10
SCA-7. Cone-rod dystrophy in the context of an hereditary ataxia]. (16311960)
2005
11
Hereditary ataxia and behavior. (16383226)
2005
12
Hereditary ataxia in the Jack Russell Terrier--clinical and genetic investigations. (15320590)
2004
13
Impact of presymptomatic genetic testing for hereditary ataxia and neuromuscular disorders. (15210524)
2004
14
Non-expanded polyglutamine proteins in intranuclear inclusions of hereditary ataxias--triple-labeling immunofluorescence study. (11563629)
2001
15
Hereditary ataxia. An unfolded protein. (11784584)
2001
16
Distribution of dominant hereditary ataxias and Friedreich's ataxia in the Spanish population]. (10996881)
2000
17
Hereditary spastic paraplegia and hereditary ataxia, Part 2: A family demonstrating various phenotypic manifestations with the SCA3 genotype. (10815141)
2000
18
Genes involved in hereditary ataxias. (9735950)
1998
19
Hereditary ataxia with sensory neuronopathy: Biemond's ataxia. (9008534)
1997
20
The genetic basis of hereditary ataxia. (9193167)
1997
21
Cerebellar grafts partially reverse amino acid receptor changes observed in the cerebellum of mice with hereditary ataxia: quantitative autoradiographic studies. (9171167)
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
Late-onset hereditary ataxia with global thermoanalgesia and absence of fungiform papillae on the tongue in a Japanese family. (8673478)
1996
24
Knowledge of genetics and attitudes toward genetic testing in two hereditary ataxia (SCA 1) kindreds. (7810581)
1994
25
Molecular genetics of hereditary ataxias. (7952848)
1994
26
Metabolic and cognitive changes in hereditary ataxia. (8277326)
1993
27
A dominant hereditary ataxia resembling Machado-Joseph disease in Arnhem Land, Australia. (8414025)
1993
28
The Purkinje cell and its afferents in human hereditary ataxia. (2061716)
1991
29
Menzel's hereditary ataxia with slow eye movements and myoclonus. A clinico-pathological study. (6631453)
1983
30
Periodic alternating nystagmus in a case of hereditary ataxia and its treatment with baclofen. (7161616)
1982
31
Lecithin in hereditary ataxia. (7193833)
1981
32
Genetic linkage in hereditary ataxia. (6101435)
1980
33
A preliminary study of dynamic muscle function in hereditary ataxia. (7214252)
1980
34
A family with hereditary ataxia. (7266406)
1980
35
Choline in hereditary ataxia. (497742)
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
HEREDITARY ATAXIA IN THE RABBIT: AMINO ACID ANALYSES OF BLOOD AND BRAIN. (14206450)
1964
45
Hereditary ataxia. Linkage studies in hereditary ataxia. (13768204)
1961
46
Hereditary ataxia. (14407625)
1959
47
Retinal degeneration in hereditary ataxia. (13357958)
1956
48
A typical hereditary ataxia. (21007895)
1945
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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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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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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Sources:
44Novoseek, 24HMDB, 11DrugBank, 28IUPHAR, 61Tocris Bioscience
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Compounds related to Hereditary Ataxia according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1tdp-14410.0TDP1, TOP1
2dihydroprogesterone449.8MPZ, PMP22
3tocopherol449.8TBP, TTPA
4phosphodiester449.8TDP1, TBP
5alpha-amanitin449.7TBP, TOP1
6alpha tocopherol449.6TTPA, TBP, FXN
7polyacrylamide449.2ATXN7, ATXN2, TBP, ATXN3
8guanine44 24 1111.1TBP, TOP1, PMP22
9progesterone44 28 61 24 1112.8MPZ, TBP, GJB1, PMP22
10cysteine448.7FXN, PMP22, GJB1, TBP, MPZ, ATXN3
11glutamine446.6ATXN7, CACNA1A, CHERP, TOP1, TTPA, ATXN2

GO Terms for genes affiliated with Hereditary Ataxia

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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
  • 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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet