MCID: CRB042
MIFTS: 54

Cerebellar Ataxia malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Aliases & Classifications for Cerebellar Ataxia

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Cerebellar Ataxia, Aliases & Descriptions:

Name: Cerebellar Ataxia 45 30 9 10 11
Hemosiderosis, Systemic, Due to Aceruloplasminemia 45
 
Aceruloplasminemia Hypoceruloplasminemia, Included 45
Systemic Hemosiderosis Due to Aceruloplasminemia 22


Classifications:

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


External Ids:

OMIM45 604290
Disease Ontology9 DOID:0050753

Summaries for Cerebellar Ataxia

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Wikipedia:63 Cerebellar ataxia is a form of ataxia originating in the cerebellum. more...

MalaCards based summary: Cerebellar Ataxia, also known as hemosiderosis, systemic, due to aceruloplasminemia, is related to spinocerebellar ataxia 7 and spinocerebellar ataxia, and has symptoms including autosomal recessive inheritance, torticollis and retinal degeneration. An important gene associated with Cerebellar Ataxia is CP (ceruloplasmin (ferroxidase)), and among its related pathways is Selected targets of Oct 3 4. The compounds glutamine and hypoxanthine have been mentioned in the context of this disorder. Affiliated tissues include cerebellum, brain and testes, and related mouse phenotypes are pigmentation and no phenotypic analysis.

Disease Ontology:9 A cerebellar disease characterized by ataxia originating in the cerebellum.

Description from OMIM:45 604290

Related Diseases for Cerebellar Ataxia

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Diseases in the Cerebellar Ataxia family:

Syne1-Related Autosomal Recessive Cerebellar Ataxia Hereditary Cerebellar Ataxia Syndrome of Early Onset
Adult-Onset Autosomal Recessive Cerebellar Ataxia

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

(show top 50)    (show all 290)
idRelated DiseaseScoreTop Affiliating Genes
1spinocerebellar ataxia 731.2ATXN2
2spinocerebellar ataxia31.0ATN1, ATXN2
3dementia31.0CP
4machado-joseph disease30.9ATN1, ATXN2
5apraxia30.8NPHP1, ATCAY
6spinocerebellar ataxia 1230.6ATN1, ATXN2
7cerebellar degeneration30.6ATXN2
8mitochondrial dna depletion syndrome 730.4ATCAY, SACS
9retinal degeneration30.0NPHP1, PAX6, CP
10friedreich ataxia30.0ATXN2, SACS
11schizophrenia29.4DNMT1, PAX6, CP, ATN1
12ataxia11.4
13neuropathy10.6
14aceruloplasminemia10.6
15gillespie syndrome10.6
16hypogonadism10.5
17spinocerebellar ataxia, autosomal recessive 810.5
18mental retardation10.5
19spasticity10.5
20short-rib thoracic dysplasia 9 with or without polydactyly10.5
21malaria10.5
22cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 110.5
23myoclonus10.5
24cerebellar ataxia, deafness, and narcolepsy, autosomal dominant10.5
25cerebellar ataxia and hypogonadotropic hypogonadism10.5
26neuronitis10.5
27renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial dna10.5
28aniridia10.4
29spinocerebellar ataxia 210.4
30cerebellar ataxia ectodermal dysplasia10.4
31harding ataxia10.4
32myoclonus cerebellar ataxia deafness10.4
33cerebellar ataxia, nonprogressive, with mental retardation10.4
34multiple system atrophy10.4
35migraine10.4
36cerebellar ataxia and mental retardation with or without quadrupedal locomotion 310.4
37cataract10.4
38retinitis10.4
39hemiplegic migraine10.4
40tremor10.4
41spinocerebellar ataxia 110.4
42cerebellar ataxia, mental retardation, and dysequilibrium syndrome 210.4
43spectrin-associated autosomal recessive cerebellar ataxia10.4
44ataxia-telangiectasia10.3
45cognitive impairment with or without cerebellar ataxia10.3
46cerebellar ataxia, mental retardation, and dysequilibrium syndrome 410.3
47familial hemiplegic migraine10.3
48stiff-person syndrome10.3
49dystonia10.3
50encephalitis10.3

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



Diseases related to cerebellar ataxia

Symptoms for Cerebellar Ataxia

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Symptoms by clinical synopsis from OMIM:

604290

Clinical features from OMIM:

604290

HPO human phenotypes related to Cerebellar Ataxia:

(show all 15)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 torticollis HP:0000473
3 retinal degeneration HP:0000546
4 blepharospasm HP:0000643
5 dementia HP:0000726
6 diabetes mellitus HP:0000819
7 ataxia HP:0001251
8 dysarthria HP:0001260
9 anemia HP:0001903
10 abnormality of extrapyramidal motor function HP:0002071
11 chorea HP:0002072
12 scanning speech HP:0002168
13 cogwheel rigidity HP:0002396
14 increased serum ferritin HP:0003281
15 adult onset HP:0003581

Drugs & Therapeutics for Cerebellar Ataxia

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Drug clinical trials:

Search ClinicalTrials for Cerebellar Ataxia

Search NIH Clinical Center for Cerebellar Ataxia

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Cerebellar Ataxia cell therapies at LifeMap Discovery.

Genetic Tests for Cerebellar Ataxia

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Genetic tests related to Cerebellar Ataxia:

id Genetic test Affiliating Genes
1 Hemosiderosis, Systemic, Due to Aceruloplasminemia22

Anatomical Context for Cerebellar Ataxia

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MalaCards organs/tissues related to Cerebellar Ataxia:

31
Cerebellum, Brain, Testes, Liver, Skin, T cells, Eye, Thymus, Cortex, Retina, Lung, Thyroid, Breast, Endothelial, Neutrophil

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

Cells/anatomical compartments in embryo or adult related to Cerebellar Ataxia:
id TissueAnatomical CompartmentCell Relevance
1 AdiposeSubcutaneous White AdiposeMesenchymal Stem Cells Potential therapeutic candidate
2 AdiposeSubcutaneous White AdiposeStromal Cells Potential therapeutic candidate

Animal Models for Cerebellar Ataxia or affiliated genes

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MGI Mouse Phenotypes related to Cerebellar Ataxia:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.8DNMT1, PAX6, CP
2MP:00030128.6NPHP1, SYNE1, DNMT1, ATN1
3MP:00053798.2ATCAY, ATXN2, ATN1, PAX6, NPHP1
4MP:00053897.8ATCAY, ATXN2, ATN1, PAX6, DNMT1, NPHP1
5MP:00036317.7ATCAY, ATXN2, ATN1, CP, PAX6, DNMT1
6MP:00053787.1ATCAY, ATXN2, ATN1, PAX6, DNMT1, SYNE1
7MP:00053867.0CA8, ATCAY, ATXN2, ATN1, CP, PAX6

Publications for Cerebellar Ataxia

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Articles related to Cerebellar Ataxia:

(show top 50)    (show all 631)
idTitleAuthorsYear
1
Treatable causes of cerebellar ataxia. (25757427)
2015
2
Ethanol-Induced Cerebellar Ataxia: Cellular and Molecular Mechanisms. (25578036)
2015
3
Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations. (24719489)
2014
4
Neuroprotective Role of Liver Growth Factor "LGF" in an Experimental Model of Cerebellar Ataxia. (25338046)
2014
5
Drug-Induced Cerebellar Ataxia: A Systematic Review. (25391707)
2014
6
Acute cerebellar ataxia following meningococcal group C conjugate vaccination. (23275434)
2014
7
Cerebellar ataxia, vertical supranuclear gaze palsy, sensorineural deafness, epilepsy, dementia, and hallucinations in an adolescent male. (25149939)
2014
8
Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia. (23857099)
2013
9
SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein. (23941260)
2013
10
Inherited cerebellar ataxia in childhood: a pattern-recognition approach using brain MRI. (22595899)
2013
11
Locomotion speed determines gait variability in cerebellar ataxia and vestibular failure. (21997342)
2012
12
Brain imaging in cerebellar ataxia associated with autoimmune polyglandular syndrome type 2. (21091821)
2012
13
Autoimmunity as a prognostic factor in sporadic adult onset cerebellar ataxia. (21984193)
2012
14
"Hot cross bun" sign in multiple system atrophy with predominant cerebellar ataxia: a comparison between proton density-weighted imaging and T2-weighted imaging. (22209432)
2012
15
Cerebellar ataxia: pathophysiology and rehabilitation. (21321055)
2011
16
An unusual case of familial ALS and cerebellar ataxia. (20540686)
2010
17
Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy. (20580948)
2010
18
Nonprogressive congenital cerebellar ataxia, iris heterochromia, mental retardation and language impairment in two brothers. (20147839)
2010
19
Cerebellar ataxia associated with neuroendocrine thymic carcinoma and GAD antibodies. (19448100)
2009
20
Immunological reactivity against neuronal and non-neuronal antigens in sporadic adult-onset cerebellar ataxia. (19786780)
2009
21
Postural instability in cerebellar ataxia: correlations of knee, arm and trunk movements to center of mass velocity. (19136042)
2009
22
The zinc-binding domain of Nna1 is required to prevent retinal photoreceptor loss and cerebellar ataxia in Purkinje cell degeneration (pcd) mice. (18602413)
2008
23
Acute cerebellar ataxia associated with primary human herpesvirus-6 infection: a report of two cases. (19012639)
2008
24
Late cerebellar ataxia associated with fragile X premutation]. (18808779)
2008
25
ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia. (18465152)
2008
26
Serum vitamin B12 deficiency and hyperhomocystinemia: a reversible cause of acute chorea, cerebellar ataxia in an adult with cerebral ischemia. (18678379)
2008
27
Clinical and genetic study of autosomal recessive cerebellar ataxia type 1. (17503513)
2007
28
On autosomal dominant cerebellar ataxia (ADCA) other than polyglutamine diseases, with special reference to chromosome 16q22.1-linked ADCA. (16961073)
2006
29
Improvement with corticosteroids and azathioprine in GAD65-associated cerebellar ataxia. (17030779)
2006
30
A case report of plasmapheresis in paraneoplastic cerebellar ataxia associated with anti-Tr antibody. (16556143)
2006
31
Cerebellar ataxia with coenzyme Q10 deficiency: diagnosis and follow-up after coenzyme Q10 supplementation. (16677673)
2006
32
CSF analysis differentiates multiple-system atrophy from idiopathic late-onset cerebellar ataxia. (16894110)
2006
33
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2. (16251216)
2006
34
New autosomal recessive cerebellar ataxias with oculomotor apraxia. (16131425)
2005
35
Familial positional downbeat nystagmus and cerebellar ataxia: clinical and pathologic findings. (15827018)
2005
36
Fine mapping of 16q-linked autosomal dominant cerebellar ataxia type III in Japanese families. (15455264)
2004
37
Early onset, non-progressive, mild cerebellar ataxia co-segregating with a familial balanced translocation t(8;20)(p22;q13). (14985396)
2004
38
Pure cerebello-olivary degeneration of Marie, Foix, and Alajouanine presenting with progressive cerebellar ataxia, cognitive decline, and chorea. (14673899)
2003
39
Ocular motility in genetically defined autosomal dominant cerebellar ataxia. (11992880)
2002
40
Frequency analysis of autosomal dominant cerebellar ataxias in Taiwanese patients and clinical and molecular characterization of spinocerebellar ataxia type 6. (11448300)
2001
41
SCA12 is a rare locus for autosomal dominant cerebellar ataxia: a study of an Indian family. (11198281)
2001
42
Amantadine treatment in cerebellar ataxia. (11291986)
2001
43
Mutant mice as a model for cerebellar ataxia. (11164620)
2001
44
Linkage to chromosome 13q11-12 of an autosomal recessive cerebellar ataxia in a Tunisian family. (10751248)
2000
45
Large, expanded repeats in SCA8 are not confined to patients with cerebellar ataxia. (10700168)
2000
46
Uncloned expanded CAG/CTG repeat sequences in autosomal dominant cerebellar ataxia (ADCA) detected by the repeat expansion detection (RED) method. (9507387)
1998
47
Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1. (9311738)
1997
48
Refinement by linkage analysis in two large families of the candidate region of the third locus (SCA3) for autosomal dominant cerebellar ataxia type I. (8522329)
1995
49
Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy. A clinical and genetic study of eight families. (8032856)
1994
50
Juvenile nephronophthisis associated with retinal pigmentary dystrophy, cerebellar ataxia, and skeletal abnormalities. (1008585)
1976

Variations for Cerebellar Ataxia

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Clinvar genetic disease variations for Cerebellar Ataxia:

6 (show all 42)
id Gene Variation Type Significance SNP ID Assembly Location
1CPNM_000096.3(CP): c.3019-1G> Asingle nucleotide variantPathogenicrs386134142GRCh37Chr 3, 148894200: 148894200
2CPNM_000096.3(CP): c.2389delG (p.Glu797Argfs)deletionPathogenicrs386134149GRCh37Chr 3, 148901289: 148901289
3CPNM_000096.3(CP): c.1286_1287insTACAC (p.Asp430Thrfs)insertionPathogenicrs386134145GRCh37Chr 3, 148919950: 148919951
4CPNM_000096.3(CP): c.2630G> A (p.Trp877Ter)single nucleotide variantPathogenicrs121909579GRCh37Chr 3, 148897374: 148897374
5CPNM_000096.3(CP): c.606dupA (p.Asp203Argfs)duplicationPathogenicrs386134143GRCh37Chr 3, 148927955: 148927955
6CPNM_000096.3(CP): c.1049C> A (p.Ala350Asp)single nucleotide variantPathogenicrs386134127GRCh37Chr 3, 148924114: 148924114
7CPNM_000096.3(CP): c.229G> C (p.Asp77His)single nucleotide variantPathogenicrs200683433GRCh37Chr 3, 148930403: 148930403
8CPNM_000096.3(CP): c.650T> C (p.Phe217Ser)single nucleotide variantPathogenicrs386134125GRCh37Chr 3, 148927129: 148927129
9CPNM_000096.3(CP): c.1874G> A (p.Gly625Glu)single nucleotide variantPathogenicrs386134129GRCh37Chr 3, 148904510: 148904510
10CPNM_000096.3(CP): c.2675G> A (p.Gly892Glu)single nucleotide variantPathogenicrs386134131GRCh37Chr 3, 148896405: 148896405
11CPNM_000096.3(CP): c.2684G> C (p.Gly895Ala)single nucleotide variantPathogenicrs139633388GRCh37Chr 3, 148896396: 148896396
12CPNM_000096.3(CP): c.2962G> A (p.Gly988Ser)single nucleotide variantPathogenicrs386134133GRCh37Chr 3, 148895683: 148895683
13CPNM_000096.3(CP): c.548T> C (p.Ile183Thr)single nucleotide variantPathogenicrs386134123GRCh37Chr 3, 148928013: 148928013
14CPNM_000096.3(CP): c.82A> T (p.Ile28Phe)single nucleotide variantPathogenicrs386134121GRCh37Chr 3, 148939498: 148939498
15CPNM_000096.3(CP): c.2953A> G (p.Met985Val)single nucleotide variantPathogenicrs386134132GRCh37Chr 3, 148895692: 148895692
16CPNM_000096.3(CP): c.587C> G (p.Pro196Arg)single nucleotide variantPathogenicrs386134124GRCh37Chr 3, 148927974: 148927974
17CPNM_000096.3(CP): c.493C> G (p.Gln165Glu)single nucleotide variantPathogenicrs386134122GRCh37Chr 3, 148928068: 148928068
18CPNM_000096.3(CP): c.2131C> A (p.Gln711Lys)single nucleotide variantPathogenicrs386134130GRCh37Chr 3, 148903180: 148903180
19CPNM_000096.3(CP): c.643C> T (p.Arg215Ter)single nucleotide variantPathogenicrs386134155GRCh37Chr 3, 148927136: 148927136
20CPNM_000096.3(CP): c.2158C> T (p.Arg720Trp)single nucleotide variantPathogenicrs145784949GRCh37Chr 3, 148903153: 148903153
21CPNM_000096.3(CP): c.2701C> T (p.Arg901Ter)single nucleotide variantPathogenicrs386134156GRCh37Chr 3, 148896379: 148896379
22CPNM_000096.3(CP): c.1652C> T (p.Thr551Ile)single nucleotide variantPathogenicrs61733458GRCh37Chr 3, 148916215: 148916215
23CPNM_000096.3(CP): c.848G> C (p.Trp283Ser)single nucleotide variantPathogenicrs386134126GRCh37Chr 3, 148925338: 148925338
24CPNM_000096.3(CP): c.1123T> C (p.Tyr375His)single nucleotide variantPathogenicrs386134128GRCh37Chr 3, 148924040: 148924040
25CPNM_000096.3(CP): c.1209-2A> Gsingle nucleotide variantPathogenicrs386134137GRCh37Chr 3, 148920030: 148920030
26CPNM_000096.3(CP): c.1209_1210dupTG (p.Asp404Valfs)duplicationPathogenicrs386134138GRCh37Chr 3, 148920026: 148920027
27CPNM_000096.3(CP): c.1257_1258delTT (p.Tyr420Terfs)deletionPathogenicrs386134144GRCh37Chr 3, 148919979: 148919980
28CPNM_000096.3(CP): c.146+1G> Asingle nucleotide variantPathogenicrs386134134GRCh37Chr 3, 148939433: 148939433
29CPNM_000096.3(CP): c.1865-1G> Asingle nucleotide variantPathogenicrs386134139GRCh37Chr 3, 148904520: 148904520
30CPNM_000096.3(CP): c.1918delG (p.Asp640Ilefs)deletionPathogenicrs386134146GRCh37Chr 3, 148904466: 148904466
31CPNM_000096.3(CP): c.2065delC (p.Pro689Leufs)deletionPathogenicrs386134147GRCh37Chr 3, 148904319: 148904319
32CPNM_000096.3(CP): c.2068delG (p.Asp690Thrfs)deletionPathogenicrs386134148GRCh37Chr 3, 148904316: 148904316
33CPNM_000096.3: p.Leu729Trpfs*40deletionPathogenic
34CPNM_000096.3(CP): c.2482delG (p.Ala828Profs)deletionPathogenicrs386134150GRCh37Chr 3, 148899864: 148899864
35CPNM_000096.3(CP): c.2511dupT (p.Gly838Trpfs)duplicationPathogenicrs386134151GRCh37Chr 3, 148899835: 148899836
36CPNM_000096.3(CP): c.2554+1G> Tsingle nucleotide variantPathogenicrs386134140GRCh37Chr 3, 148899791: 148899791
37CPNM_000096.3(CP): c.2602delG (p.Gly868Glufs)deletionPathogenicrs386134152GRCh37Chr 3, 148897402: 148897402
38CPNM_000096.3(CP): c.2689_2690delCT (p.Leu897Aspfs)deletionPathogenicrs386134153GRCh37Chr 3, 148896390: 148896391
39CPNM_000096.3(CP): c.2879-1G> Asingle nucleotide variantPathogenicrs386134141GRCh37Chr 3, 148895767: 148895767
40CPNM_000096.3(CP): c.2917dupA (p.Thr973Asnfs)duplicationPathogenicrs386134154GRCh37Chr 3, 148895727: 148895728
41CPNM_000096.3(CP): c.395-1G> Asingle nucleotide variantPathogenicrs386134135GRCh37Chr 3, 148928167: 148928167
42CPNM_000096.3(CP): c.607+1G> Asingle nucleotide variantPathogenicrs386134136GRCh37Chr 3, 148927953: 148927953

Expression for genes affiliated with Cerebellar Ataxia

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Search GEO for disease gene expression data for Cerebellar Ataxia.

Pathways for genes affiliated with Cerebellar Ataxia

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Pathways related to Cerebellar Ataxia according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes

Compounds for genes affiliated with Cerebellar Ataxia

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Sources:
43Novoseek, 24HMDB, 12DrugBank
See all sources

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

idCompoundScoreTop Affiliating Genes
1glutamine439.4CP, ATN1, ATXN2
2hypoxanthine43 24 1211.3DNMT1, CP
3glutamate438.6SYNE1, DNMT1, PAX6, CP

GO Terms for genes affiliated with Cerebellar Ataxia

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

idNameGO IDScoreTop Affiliating Genes
1cytoplasmGO:00057376.7NPHP1, CA8, SYNE1, SACS, PAX6, ATN1

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

idNameGO IDScoreTop Affiliating Genes
1cell deathGO:00082198.9SYNE1, SACS, ATXN2, ATP2B3

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

idNameGO IDScoreTop Affiliating Genes
1chaperone bindingGO:00510879.8SACS, CP

Products for genes affiliated with Cerebellar Ataxia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Cerebellar 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