MCID: HRD026
MIFTS: 44

Hereditary Ataxia malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Aliases & Classifications for Hereditary Ataxia

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Hereditary Ataxia, Aliases & Descriptions:

Name: Hereditary Ataxia 30 19 41 20
Ataxias Hereditary 43 22
 
Ataxias, Hereditary 60


Classifications:

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


External Ids:

ICD1025 G11

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

Related Diseases for Hereditary Ataxia

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Diseases in the Ataxia family:

hereditary ataxia

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

(show top 50)    (show all 214)
idRelated DiseaseScoreTop Affiliating Genes
1machado-joseph disease31.1ATXN3
2paraplegia31.0SPG7, AFG3L2
3ataxia with vitamin e deficiency30.5FXN, TTPA
4spinocerebellar ataxia 730.4ATXN7, ATXN2, CHERP
5spinocerebellar ataxia, autosomal recessive with axonal neuropathy30.3TOP1, TDP1
6spinocerebellar ataxia 230.3ATXN3, ATXN2
7axonal neuropathy30.3TDP1, TOP1
8neuritis30.2MPZ, PMP22
9neuropathy30.1C10orf2, PMP22, MPZ, CACNA1A, GJB1
10spinocerebellar ataxia 129.7CACNA1A, CHERP, ATXN3, ATXN1
11cerebellar ataxia29.4C10orf2, ATXN3, ATXN7, ATXN2, AFG3L2, TTPA
12friedreich ataxia29.3ATXN1, ATXN3, ATXN2, TTPA, CACNA1A, FXN
13dentatorubro-pallidoluysian atrophy29.2C10orf2, ATXN1, ATXN3, ATXN2, AFG3L2, TBP
14spinocerebellar degeneration29.1ATXN1, ATXN3, ATXN2, CHERP, CACNA1A, TDP1
15spinocerebellar ataxia 1729.0CACNA1A, TBP, ATXN2, ATXN7, ATXN1, ATXN3
16spinocerebellar ataxia 1229.0ATXN1, ATXN3, ATXN7, ATXN2, CACNA1A, TBP
17spinocerebellar ataxia28.9C10orf2, ATXN1, ATXN3, ATXN2, TDP1, TBP
18ataxia11.0
19ophthalmoplegia10.5ATXN7
20neuropathy, recurrent, with pressure palsies10.5PMP22
21pelizaeus-merzbacher disease10.4MPZ
22optic atrophy plus syndrome10.4SPG7
23spasticity10.4
24charcot-marie-tooth disease, type 2e10.4MPZ
25polyradiculoneuropathy10.4PMP22
26apraxia10.3TTPA, FXN
27hepatic encephalopathy10.3ATXN3, CHERP
28charcot-marie-tooth disease, type 1a10.3PMP22, MPZ
29motor peripheral neuropathy10.3PMP22, MPZ
30roussy-levy syndrome10.3PMP22, MPZ
31neuropathy, congenital hypomyelinating10.3PMP22, MPZ
32chronic inflammatory demyelinating polyradiculoneuropathy10.3MPZ, PMP22
33brachial plexus neuropathy10.3MPZ, PMP22
34charcot-marie-tooth neuropathy type 110.3PMP22, MPZ
35hereditary spastic paraplegia10.3
36guillain-barre syndrome10.3PMP22, MPZ
37diabetic neuropathy10.2MPZ, PMP22
38spinocerebellar ataxia 3210.2
39ataxia-telangiectasia10.2
40cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 110.2
41tooth disease10.2GJB1, MPZ, PMP22
42dejerine-sottas disease10.2PMP22, MPZ, GJB1
43hereditary neuropathies10.2GJB1, MPZ, PMP22
44mitochondrial disorders10.2FXN, C10orf2
45polyneuropathy10.2PMP22, MPZ, GJB1
46charcot-marie-tooth disease10.1PMP22, MPZ, GJB1
47sensorineural hearing loss10.1GJB1, PMP22
48spinocerebellar ataxia 3710.1
49episodic ataxia, type 310.1
50episodic ataxia, type 510.1

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
Data from LifeMap, the Embryonic Development and Stem Cells Database
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:

31
Eye, Brain, Testes, Cerebellum, Tongue

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

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:

35
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 108)
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
Canine hereditary ataxia. (25441626)
2014
6
Progressive cerebellar atrophy: hereditary ataxias and disorders with spinocerebellar degeneration. (23622410)
2013
7
Autosomal dominant hereditary ataxia in Sri Lanka. (23634774)
2013
8
The reciprocal cerebellar circuitry in human hereditary ataxia. (23389921)
2013
9
Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study. (19339254)
2009
10
Cognition in hereditary ataxia. (17786824)
2007
11
Mapping cerebral blood flow during speech production in hereditary ataxia. (16443374)
2006
12
SCA-7. Cone-rod dystrophy in the context of an hereditary ataxia]. (16311960)
2005
13
Hereditary ataxia and behavior. (16383226)
2005
14
Hereditary ataxia in the Jack Russell Terrier--clinical and genetic investigations. (15320590)
2004
15
Impact of presymptomatic genetic testing for hereditary ataxia and neuromuscular disorders. (15210524)
2004
16
Non-expanded polyglutamine proteins in intranuclear inclusions of hereditary ataxias--triple-labeling immunofluorescence study. (11563629)
2001
17
Hereditary ataxia. An unfolded protein. (11784584)
2001
18
Distribution of dominant hereditary ataxias and Friedreich's ataxia in the Spanish population]. (10996881)
2000
19
Hereditary spastic paraplegia and hereditary ataxia, Part 2: A family demonstrating various phenotypic manifestations with the SCA3 genotype. (10815141)
2000
20
Genes involved in hereditary ataxias. (9735950)
1998
21
Hereditary ataxia with sensory neuronopathy: Biemond's ataxia. (9008534)
1997
22
The genetic basis of hereditary ataxia. (9193167)
1997
23
Cerebellar grafts partially reverse amino acid receptor changes observed in the cerebellum of mice with hereditary ataxia: quantitative autoradiographic studies. (9171167)
1997
24
Late-onset hereditary ataxia with global thermoanalgesia and absence of fungiform papillae on the tongue in a Japanese family. (8673478)
1996
25
Knowledge of genetics and attitudes toward genetic testing in two hereditary ataxia (SCA 1) kindreds. (7810581)
1994
26
Molecular genetics of hereditary ataxias. (7952848)
1994
27
Metabolic and cognitive changes in hereditary ataxia. (8277326)
1993
28
A dominant hereditary ataxia resembling Machado-Joseph disease in Arnhem Land, Australia. (8414025)
1993
29
The Purkinje cell and its afferents in human hereditary ataxia. (2061716)
1991
30
Menzel's hereditary ataxia with slow eye movements and myoclonus. A clinico-pathological study. (6631453)
1983
31
Periodic alternating nystagmus in a case of hereditary ataxia and its treatment with baclofen. (7161616)
1982
32
Lecithin in hereditary ataxia. (7193833)
1981
33
Genetic linkage in hereditary ataxia. (6101435)
1980
34
A preliminary study of dynamic muscle function in hereditary ataxia. (7214252)
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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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 Suite gene sharing:

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

Compounds for genes affiliated with Hereditary Ataxia

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Sources:
43Novoseek, 24HMDB, 12DrugBank, 28IUPHAR, 59Tocris Bioscience
See all sources

Compounds related to Hereditary Ataxia according to GeneCards Suite gene sharing:

(show all 11)
idCompoundScoreTop Affiliating Genes
1tdp-14310.0TOP1, TDP1
2dihydroprogesterone439.8PMP22, MPZ
3tocopherol439.8TBP, TTPA
4phosphodiester439.8TBP, TDP1
5alpha-amanitin439.7TOP1, TBP
6alpha tocopherol439.6FXN, TBP, TTPA
7polyacrylamide439.2ATXN3, ATXN7, ATXN2, TBP
8guanine43 24 1211.1TBP, TOP1, PMP22
9progesterone43 28 59 24 1212.8PMP22, MPZ, TBP, GJB1
10cysteine438.7FXN, GJB1, TBP, MPZ, PMP22, ATXN3
11glutamine436.6TBP, ATXN1, ATXN3, ATXN7, ATXN2, TTPA

GO Terms for genes affiliated with Hereditary Ataxia

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Cellular components related to Hereditary Ataxia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nuclear matrixGO:00163639.1ATXN7, ATXN3, ATXN1
2cytoplasmGO:00057376.8ATXN3, ATXN7, ATXN2, CHERP, CACNA1A, TBP

Biological processes related to Hereditary Ataxia according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of insulin-like growth factor receptor signaling pathwayGO:00435699.7ATXN1, ATXN7
2negative regulation of multicellular organism growthGO:00400159.7FXN, ATXN2
3mitochondrion organizationGO:00070059.6FXN, SPG7
4negative regulation of phosphorylationGO:00423269.5ATXN7, ATXN1
5nervous system developmentGO:00073999.3GJB1, CHERP, ATXN3, SPG7
6adult walking behaviorGO:00076289.3FXN, CACNA1A
7cerebellar Purkinje cell differentiationGO:00217029.2CACNA1A, ATXN2
8synaptic transmissionGO:00072688.7ATXN3, PMP22, MPZ, CACNA1A
9cell deathGO:00082196.8TDP1, SPG7, C10orf2, ATXN1, ATXN3, ATXN7

Molecular functions related to Hereditary Ataxia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nucleoside-triphosphatase activityGO:001711110.0AFG3L2, SPG7
2protein bindingGO:00055154.8FXN, SPG7, ATXN1, ATXN3, ATXN7, ATXN2

Products for genes affiliated with Hereditary Ataxia

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  • Kits and Assays

Sources for Hereditary Ataxia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet