MCID: HRD026
MIFTS: 45

Hereditary Ataxia malady

Neuronal category

Summaries for Hereditary Ataxia

Sources:
19GeneReviews, 33MalaCards
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MalaCards: Hereditary Ataxia, also known as factor ix deficiency, is related to friedreich ataxia and spinocerebellar 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, cerebellum and smooth muscle, and related mouse phenotypes are muscle and homeostasis/metabolism.

GeneReviews summary for ataxias

Aliases & Classifications for Hereditary Ataxia

Sources:
19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 31LifeMap Discovery™, 45Novoseek, 61UMLS, 25ICD10
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Classifications:

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


Aliases & Descriptions:

hereditary ataxia 19 43 20 22 31
factor ix deficiency 19
ataxias, hereditary 61
ataxias hereditary 45
christmas disease 19


External Ids:

ICD1025 G11

Related Diseases for Hereditary Ataxia

Sources:
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 73)
idRelated DiseaseScoreTop Affiliating Genes
1friedreich ataxia30.4CACNA1A, ATXN2, ATXN3, ATXN1, TTPA, FXN
2spinocerebellar ataxia30.2C10orf2, CACNA1A, ATXN2, ATXN3, ATXN1, AFG3L2
3spinocerebellar ataxia type 329.9ATXN3
4cerebellar degeneration29.9ATXN2, CACNA1A
5axonal neuropathy29.9TDP1, TOP1
6hereditary neuropathies29.9GJB1, MPZ, PMP22
7spinocerebellar degeneration29.8TDP1, CHERP, ATXN1, CACNA1A, ATXN2, ATXN3
8ataxia10.9
9hemophilia10.7
10hemophilia b10.6
11factor v deficiency10.4
12hereditary spastic paraplegia10.3
13hepatoerythropoietic porphyria10.1
14hereditary coproporphyria10.1
15thrombophilia10.1
16hepatic veno-occlusive disease with immunodeficiency10.1
17factor 2 deficiency10.1
18scot deficiency10.1
19mild hemophilia b10.1
20moderately severe hemophilia b10.1
21severe hemophilia b10.1
22prothrombin deficiency10.1
23tricuspid atresia10.1
24thrombasthenia10.1
25blindness10.1
26ophthalmoplegia10.0ATXN7
27multiple sclerosis10.0MPZ
28hereditary neuropathy with liability to pressure palsies10.0PMP22
29opa3-related 3-methylglutaconic aciduria10.0SPG7
30dementia10.0TBP
31ataxia with vitamin e deficiency10.0TTPA, FXN
32olivopontocerebellar atrophy10.0ATXN3, ATXN2
33apraxia10.0TTPA, FXN
34polyradiculoneuropathy10.0PMP22
35charcot-marie-tooth neuropathy type 210.0MPZ
36charcot-marie-tooth neuropathy type 110.0MPZ, PMP22
37pelizaeus-merzbacher disease10.0MPZ
38charcot-marie-tooth neuropathy type 1a10.0PMP22, MPZ
39motor peripheral neuropathy10.0PMP22, MPZ
40spinocerebellar ataxia type 710.0ATXN2, ATXN7, CHERP
41charcot-marie-tooth disease type 4e10.0MPZ, PMP22
42chronic inflammatory demyelinating polyradiculoneuropathy10.0MPZ, PMP22
43paraplegia10.0SPG7, AFG3L2
44brachial plexus neuropathy10.0PMP22, MPZ
45tooth disease10.0GJB1, MPZ, PMP22
46charcot-marie-tooth disease type 310.0PMP22, MPZ, GJB1
47diabetic neuropathy10.0MPZ, PMP22
48spinocerebellar ataxia with axonal neuropathy, autosomal recessive10.0TOP1, TDP1
49multiple system atrophy10.0ATXN3, ATXN1
50polyneuropathy10.0PMP22, MPZ, GJB1

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



Diseases related to hereditary ataxia

Clinical Features for Hereditary Ataxia

Drugs & Therapeutics for Hereditary Ataxia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Hereditary Ataxia:

id Genetic test Affiliating Genes
1 Hereditary Ataxias20
2 Hereditary Ataxia22

Anatomical Context for Hereditary Ataxia

Sources:
31LifeMap Discovery™, 33MalaCards
See all sources

MalaCards organs/tissues related to Hereditary Ataxia:

33
Brain, Cerebellum, Smooth muscle, Skeletal muscle, 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

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Hereditary Ataxia

Sources:
51PubMed
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Articles related to Hereditary Ataxia:

(show top 50)    (show all 141)
idTitleAuthorsYear
1
Gluten ataxia of sporadic and hereditary cerebellar ataxia in patients from mainland China. (23860139)
2013
2
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28. (20208537)
2010
3
The effect of 3,4-diaminopyridine on the patients with hereditary pure cerebellar ataxia. (20181362)
2010
4
Yet another gene mutation: dysfunction in mitochondrial protein quality control causing hereditary ataxia. (20738332)
2010
5
Late onset hereditary episodic ataxia. (19372292)
2009
6
Hereditary spastic paraplegia or spinocerebellar ataxia? Not always as easy as it seems. (19453405)
2009
7
Chronic cerebellar ataxia and hereditary hemochromatosis: causal or coincidental association? (17450315)
2007
8
Hereditary ataxia and behavior. (16383226)
2005
9
Impact of presymptomatic genetic testing for hereditary ataxia and neuromuscular disorders. (15210524)
2004
10
Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation. (15667412)
2004
11
Hereditary cerebellar ataxia progressively impairs force adaptation during goal-directed arm movements. (13679403)
2004
12
Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. (15148151)
2004
13
Olfactory dysfunction in hereditary ataxia and basal ganglia disorders. (12876469)
2003
14
A locus for autosomal dominant hereditary spastic ataxia, SAX1, maps to chromosome 12p13. (11774073)
2002
15
A line of Berlin Druckrey IV rats proposed as a new model for human hereditary ataxia. (12224135)
2002
16
Hereditary spastic paraplegia and hereditary ataxia, Part 2: A family demonstrating various phenotypic manifestations with the SCA3 genotype. (10815141)
2000
17
Hereditary cerebellar ataxia with peripheral neuropathy and mental retardation. (10686465)
2000
18
CAG trinucleotide mutation detection in patients with hereditary spinocerebellar ataxia]. (10514531)
1999
19
Decreased brain protein levels of cytochrome oxidase subunits in Alzheimer's disease and in hereditary spinocerebellar ataxia disorders: a nonspecific change? (9930743)
1999
20
Hereditary ataxia with sensory neuronopathy: Biemond's ataxia. (9008534)
1997
21
The genetic basis of hereditary ataxia. (9193167)
1997
22
Late-onset hereditary ataxia with global thermoanalgesia and absence of fungiform papillae on the tongue in a Japanese family. (8673478)
1996
23
Hereditary adult-onset Alexander's disease with palatal myoclonus, spastic paraparesis, and cerebellar ataxia. (8848205)
1995
24
Knowledge of genetics and attitudes toward genetic testing in two hereditary ataxia (SCA 1) kindreds. (7810581)
1994
25
Infantile onset spinocerebellar ataxia represents an allelic disease distinct from other hereditary ataxias. (7877879)
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
Hereditary ataxia. (2564162)
1989
30
Brainstem auditory evoked responses in hereditary spinocerebellar ataxias. (3870433)
1985
31
Menzel's hereditary ataxia with slow eye movements and myoclonus. A clinico-pathological study. (6631453)
1983
32
Ataxia-telangiectasis: a multisystem hereditary disease with immunodeficiency, impaired organ maturation, x-ray hypersensitivity, and a high incidence of neoplasia. (6193747)
1983
33
Periodic alternating nystagmus in a case of hereditary ataxia and its treatment with baclofen. (7161616)
1982
34
Linkage investigations in two families with hereditary ataxia. (7276965)
1981
35
Hereditary ataxia in a large Danish pedigree. (7398110)
1980
36
Atrophic maculopathy associated with hereditary ataxia. (7446640)
1980
37
Inborn errors of amino acid metabolism and hereditary ataxia. (735926)
1978
38
HLA--determination in families with hereditary ataxia. (85351)
1978
39
Autosomal dominant spinocerebellar ataxia with slow eye movements-a common hereditary ataxia in Western India. (1022769)
1976
40
Hereditary myokymia and periodic ataxia. (1170284)
1975
41
Protein patterns of cerebrospinal fluid in hereditary ataxias and hereditary spastic paraplegia. (49401)
1975
42
Titubation in hereditary ataxia. (4821687)
1974
43
Immunological studies in hereditary ataxia-telangiectasia. (4756220)
1973
44
Machado disease. A hereditary ataxia in Portuguese emigrants to Massachusetts. (5061839)
1972
45
Hereditary ataxia, presumed to be of the Menzel type, complicated by paranoid psychosis, in a mother and two sons. (5783297)
1969
46
Hereditary pellagra-like skin rash with temporary cerebellar ataxia, constant renal amino-aciduria, and other bizarre biochemical features. (13358233)
1956
47
Hereditary ataxia with optic atrophy of the retrobulbar neuritis type, and latent pallido-luysian degeneration. (15401753)
1949
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 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

Genetic Variations for Hereditary Ataxia

Expression for genes affiliated with Hereditary Ataxia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
38NCBI BioSystems Database
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Pathways related to Hereditary Ataxia according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Hereditary Ataxia

Sources:
45Novoseek
See all sources

Compounds related to Hereditary Ataxia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1tdp-1459.8TOP1, TDP1
2phosphodiester459.7TDP1, TBP
3alpha tocopherol459.6FXN, TTPA, TBP
4dihydroprogesterone459.5PMP22, MPZ
5alpha-amanitin459.4TOP1, TBP
6polyacrylamide459.4TBP, ATXN3, ATXN7, ATXN2
7cysteine458.7PMP22, MPZ, ATXN3, TBP, GJB1, FXN
8glutamine456.7TTPA, CACNA1A, TOP1, ATXN2, ATXN7, ATXN3

GO Terms for genes affiliated with Hereditary Ataxia

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hereditary Ataxia

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet