MCID: CRB042
MIFTS: 61

Cerebellar Ataxia malady

Neuronal diseases, Eye diseases, Blood diseases, Rare diseases categories

Summaries for Cerebellar Ataxia

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66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 Cerebellar ataxia is a form of ataxia originating in the cerebellum. more...

MalaCards: Cerebellar Ataxia, also known as hereditary ceruloplasmin deficiency, is related to spinocerebellar ataxia and spinocerebellar ataxia type 7, and has symptoms including troubles of memory/amnesia/hypermnesia, elocution disorders/dysarthria/dysphonia and hypothyroidy. 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.

Description from OMIM:48 604290

Aliases & Classifications for Cerebellar Ataxia

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Sources:
50Orphanet, 9Disease Ontology, 10diseasecard, 48OMIM, 11DISEASES, 32LifeMap Discoveryā„¢, 63UMLS, 27ICD10 via Orphanet, 37MESH via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

50
hereditary ceruloplasmin deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Adulthood; Age of death: Elderly


Aliases & Descriptions:

cerebellar ataxia 9 10 48 11 32
hereditary ceruloplasmin deficiency 50
ceruloplasmin deficiency 63
aceruloplasminemia 50


External Ids:

Disease Ontology9 DOID:0050753
OMIM48 604290
ICD10 via Orphanet27 G23.0
MESH via Orphanet37 C536004

Related Diseases for Cerebellar Ataxia

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Sources:
18GeneCards, 19GeneDecks
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Diseases in the Cerebellar Ataxia family:

Hereditary Cerebellar Ataxia Syndrome of Early Onset

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

(show top 50)    (show all 292)
idRelated DiseaseScoreTop Affiliating Genes
1spinocerebellar ataxia30.9ATN1, ATXN2
2spinocerebellar ataxia type 730.7ATXN2
3apraxia30.6NPHP1, ATCAY
4dementia30.5CP
5retinal degeneration30.3PAX6, CP, NPHP1
6cerebellar degeneration30.1ATXN2
7spinocerebellar ataxia type 330.0ATXN2, ATN1
8dentatorubral-pallidoluysian atrophy30.0ATXN2, ATN1
9friedreich ataxia30.0ATXN2, SACS
10schizophrenia29.9PAX6, ATN1, CP, DNMT1
11ataxia11.4
12aceruloplasminemia11.0
13neuropathy10.6
14mental retardation10.5
15hemosiderosis10.5
16hypogonadism10.5
17gillespie syndrome10.5
18myoclonus10.5
19aniridia10.5
20autosomal recessive cerebellar ataxia type 110.5
21spasticity10.5
22malaria10.4
23harding ataxia10.4
24renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia10.4
25neuronitis10.4
26olivopontocerebellar atrophy10.4
27cataract10.4
28multiple system atrophy10.4
29cerebellar ataxia ectodermal dysplasia10.4
30renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial dna10.4
31tremor10.4
32autosomal dominant cerebellar ataxia type 110.4
33dystonia10.4
34migraine10.4
35retinitis10.4
36hemiplegic migraine10.4
37myoclonus cerebellar ataxia deafness10.4
38aniridia, cerebellar ataxia, and mental retardation10.4
39machado-joseph disease10.3
40parkinson's disease10.3
41peripheral neuropathy10.3
42cerebellar ataxia and hypogonadotropic hypogonadism10.3
43cerebellar ataxia, nonprogressive, with mental retardation10.3
44spinocerebellar ataxia, autosomal recessive 1310.3
45cerebellar ataxia, deafness, and narcolepsy, autosomal dominant10.3
46familial hemiplegic migraine10.3
47celiac disease10.3
48ataxia telangiectasia10.3
49stiff-person syndrome10.3
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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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

604290

Clinical features from OMIM:

604290

Symptoms:

50 (show all 20)
  • troubles of memory/amnesia/hypermnesia
  • elocution disorders/dysarthria/dysphonia
  • hypothyroidy
  • heart/cardiac failure
  • pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria
  • diabetes mellitus
  • tremor
  • chorea/athetosis/choreoathetosis/choreic syndrome
  • anaemia
  • hyperferritinemia/iron overload
  • autosomal recessive inheritance
  • ataxia/incoordination/trouble of the equilibrium
  • dystonia/torticollis/writer's cramp/blepharospasms
  • execution movement disorder/dysmetria/bradykinesia/akinesia/apraxia
  • hypertonia/spasticity/rigidity/stiffness
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • psychic/psychomotor regression/dementia/intellectual decline
  • psychic/behavioural troubles
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • retinopathy

Drugs & Therapeutics for Cerebellar Ataxia

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 32LifeMap Discoveryā„¢
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Approved drugs:

Search CenterWatch for Cerebellar Ataxia

Drug clinical trials:

Search ClinicalTrials for Cerebellar Ataxia

Search NIH Clinical Center for Cerebellar Ataxia

Search CenterWatch for Cerebellar Ataxia

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Cerebellar Ataxia cell therapies at LifeMap Discovery.

Genetic Tests for Cerebellar Ataxia

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Anatomical Context for Cerebellar Ataxia

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Sources:
32LifeMap Discoveryā„¢, 34MalaCards
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MalaCards organs/tissues related to Cerebellar Ataxia:

34
Cerebellum, Brain, Testes, Eye, Heart, T cells, Skin, Thymus, Cortex, Retina, Liver, Lung, Thyroid, Breast

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

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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38MGI
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MGI Mouse Phenotypes related to Cerebellar Ataxia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.8PAX6, DNMT1, CP
2MP:00030128.6DNMT1, ATN1, NPHP1, SYNE1
3MP:00053798.2ATXN2, NPHP1, PAX6, ATN1, ATCAY
4MP:00053897.8NPHP1, PAX6, DNMT1, ATN1, ATXN2, ATCAY
5MP:00036317.7SYNE1, PAX6, CP, ATN1, ATXN2, ATCAY
6MP:00053787.1ATCAY, ATXN2, ATN1, PAX6, DNMT1, SYNE1
7MP:00053867.0DNMT1, ATCAY, ATXN2, ATN1, CP, PAX6

Publications for Cerebellar Ataxia

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Sources:
53PubMed
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Articles related to Cerebellar Ataxia:

(show top 50)    (show all 585)
idTitleAuthorsYear
1
Acute cerebellar ataxia following meningococcal group C conjugate vaccination. (23275434)
2014
2
SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein. (23941260)
2013
3
Inherited cerebellar ataxia in childhood: a pattern-recognition approach using brain MRI. (22595899)
2013
4
Locomotion speed determines gait variability in cerebellar ataxia and vestibular failure. (21997342)
2012
5
Brain imaging in cerebellar ataxia associated with autoimmune polyglandular syndrome type 2. (21091821)
2012
6
Autoimmunity as a prognostic factor in sporadic adult onset cerebellar ataxia. (21984193)
2012
7
"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
8
Cerebellar ataxia: pathophysiology and rehabilitation. (21321055)
2011
9
An unusual case of familial ALS and cerebellar ataxia. (20540686)
2010
10
Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy. (20580948)
2010
11
Cerebellar ataxia associated with neuroendocrine thymic carcinoma and GAD antibodies. (19448100)
2009
12
Immunological reactivity against neuronal and non-neuronal antigens in sporadic adult-onset cerebellar ataxia. (19786780)
2009
13
Postural instability in cerebellar ataxia: correlations of knee, arm and trunk movements to center of mass velocity. (19136042)
2009
14
The zinc-binding domain of Nna1 is required to prevent retinal photoreceptor loss and cerebellar ataxia in Purkinje cell degeneration (pcd) mice. (18602413)
2008
15
Acute cerebellar ataxia associated with primary human herpesvirus-6 infection: a report of two cases. (19012639)
2008
16
Late cerebellar ataxia associated with fragile X premutation]. (18808779)
2008
17
ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia. (18465152)
2008
18
Serum vitamin B12 deficiency and hyperhomocystinemia: a reversible cause of acute chorea, cerebellar ataxia in an adult with cerebral ischemia. (18678379)
2008
19
Capecitabine-associated cerebellar ataxia. (18945862)
2008
20
Clinical and genetic study of autosomal recessive cerebellar ataxia type 1. (17503513)
2007
21
Paraneoplastic cerebellar ataxia due to burnt-out testicular germ cell tumour? (17218768)
2007
22
On autosomal dominant cerebellar ataxia (ADCA) other than polyglutamine diseases, with special reference to chromosome 16q22.1-linked ADCA. (16961073)
2006
23
Improvement with corticosteroids and azathioprine in GAD65-associated cerebellar ataxia. (17030779)
2006
24
A case report of plasmapheresis in paraneoplastic cerebellar ataxia associated with anti-Tr antibody. (16556143)
2006
25
Cerebellar ataxia with coenzyme Q10 deficiency: diagnosis and follow-up after coenzyme Q10 supplementation. (16677673)
2006
26
CSF analysis differentiates multiple-system atrophy from idiopathic late-onset cerebellar ataxia. (16894110)
2006
27
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2. (16251216)
2006
28
New autosomal recessive cerebellar ataxias with oculomotor apraxia. (16131425)
2005
29
Familial positional downbeat nystagmus and cerebellar ataxia: clinical and pathologic findings. (15827018)
2005
30
Fine mapping of 16q-linked autosomal dominant cerebellar ataxia type III in Japanese families. (15455264)
2004
31
Early onset, non-progressive, mild cerebellar ataxia co-segregating with a familial balanced translocation t(8;20)(p22;q13). (14985396)
2004
32
Pure cerebello-olivary degeneration of Marie, Foix, and Alajouanine presenting with progressive cerebellar ataxia, cognitive decline, and chorea. (14673899)
2003
33
Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. (12644968)
2003
34
Ocular motility in genetically defined autosomal dominant cerebellar ataxia. (11992880)
2002
35
Frequency analysis of autosomal dominant cerebellar ataxias in Taiwanese patients and clinical and molecular characterization of spinocerebellar ataxia type 6. (11448300)
2001
36
SCA12 is a rare locus for autosomal dominant cerebellar ataxia: a study of an Indian family. (11198281)
2001
37
X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L. (11843825)
2001
38
Amantadine treatment in cerebellar ataxia. (11291986)
2001
39
Mutant mice as a model for cerebellar ataxia. (11164620)
2001
40
Familial cerebellar ataxia with muscle coenzyme Q10 deficiency. (11294920)
2001
41
Linkage to chromosome 13q11-12 of an autosomal recessive cerebellar ataxia in a Tunisian family. (10751248)
2000
42
Large, expanded repeats in SCA8 are not confined to patients with cerebellar ataxia. (10700168)
2000
43
Uncloned expanded CAG/CTG repeat sequences in autosomal dominant cerebellar ataxia (ADCA) detected by the repeat expansion detection (RED) method. (9507387)
1998
44
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
45
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
46
Familial periodic cerebellar ataxia without myokymia maps to a 19-cM region on 19p13. (7762567)
1995
47
Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy. A clinical and genetic study of eight families. (8032856)
1994
48
Gillespie syndrome, partial aniridia, cerebellar ataxia and mental retardation in mother and daughter. (7952360)
1993
49
Juvenile nephronophthisis associated with retinal pigmentary dystrophy, cerebellar ataxia, and skeletal abnormalities. (1008585)
1976
50
Cerebellar ataxia and total albinism: a kindred suggesting pleitotropism or linkage. (4838888)
1974

Variations for Cerebellar Ataxia

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Cerebellar Ataxia:

1 (show all 42)
id Gene Name 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 variantBenign, Pathogenicrs61733458GRCh37Chr 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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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cerebellar Ataxia

Search GEO for disease gene expression data for Cerebellar Ataxia.

Pathways for genes affiliated with Cerebellar Ataxia

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Sources:
51PathCards, 13EMD Millipore
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Pathways related to Cerebellar Ataxia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3DNMT1, PAX6

Compounds for genes affiliated with Cerebellar Ataxia

About this section
Sources:
46Novoseek, 25HMDB, 12DrugBank
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Compounds related to Cerebellar Ataxia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1glutamine469.4CP, ATN1, ATXN2
2hypoxanthine46 25 1211.3DNMT1, CP
3glutamate468.6SYNE1, DNMT1, PAX6, CP

GO Terms for genes affiliated with Cerebellar Ataxia

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Sources:
17Gene Ontology
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Cellular components related to Cerebellar Ataxia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmGO:0057376.7NPHP1, CA8, SYNE1, SACS, PAX6, ATN1

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

idNameGO IDScoreTop Affiliating Genes
1cell deathGO:0082198.9SYNE1, SACS, ATXN2, ATP2B3

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

idNameGO IDScoreTop Affiliating Genes
1chaperone bindingGO:0510879.8SACS, CP

Products for genes affiliated with Cerebellar Ataxia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cerebellar Ataxia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet