OPCA
MCID: OLV001
MIFTS: 70

Olivopontocerebellar Atrophy (OPCA) malady

Neuronal, Cardiovascular, Nephrological, Fetal categories

Summaries for Olivopontocerebellar Atrophy

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 44NINDS, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Olivopontocerebellar atrophy is a progressive disease that causes areas deep in the brain, just above the spinal cord, to shrink. the main symptom is clumsiness (ataxia) that slowly gets worse. there may also be problems with balance, slurring of speech, and difficulty walking. olivopontocerebellar atrophy can be passed down through families (inherited form), or it may affect people without a known family history (sporadic form). symptoms tend to start at a younger age in people with the inherited form of the condition. there is no specific treatment or cure for this disease. therapy is aimed at treating symptoms and preventing complications. last updated: 2/9/2011

MalaCards: Olivopontocerebellar Atrophy, also known as spinocerebellar ataxia type 2, is related to muscular atrophy and striatonigral degeneration, and has symptoms including cleft lip and palate, congenital cardiac anomaly/malformation/cardiopathy and agenesis/hypoplasia/aplasia of kidneys. An important gene associated with Olivopontocerebellar Atrophy is ATXN2 (ataxin 2), and among its related pathways are Sympathetic Nerve Pathway (Pre- and Post- Ganglionic Junction) and Alpha-synuclein signaling. The compounds d amphetamine and ibotenic acid have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and cerebellum, and related mouse phenotypes are endocrine/exocrine gland and homeostasis/metabolism.

Genetics Home Reference:21 Spinocerebellar ataxia type 1 (SCA1) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other signs and symptoms of SCA1 include speech and swallowing difficulties, muscle stiffness (spasticity), and weakness in the muscles that control eye movement (ophthalmoplegia). Eye muscle weakness leads to rapid, involuntary eye movements (nystagmus). Individuals with SCA1 may have difficulty processing, learning, and remembering information (cognitive impairment).

NINDS:44 Olivopontocerebellar atrophy (OPCA) is a term that describes the degeneration of neurons in specific areas of the brain ? the cerebellum, pons, and inferior olives.

Wikipedia:64 Olivopontocerebellar atrophy (OPCA) is the degeneration of neurons in specific areas of the brain –... more...

Description from OMIM:47 164500,164400,183090

GeneReviews summary for sca1

GeneReviews summary for sca2

Aliases & Classifications for Olivopontocerebellar Atrophy

Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 44NINDS, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 57SNOMED-CT, 35MeSH, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Neuronal, Cardiovascular, Nephrological


Characteristics (Orphanet epidemiological data):

49
thomas syndrome:
Age of onset: Neonatal/infancy
spinocerebellar ataxia type 1:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Variable
spinocerebellar ataxia type 2:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Variable


Aliases & Descriptions:

olivopontocerebellar atrophy 8 43 44
spinocerebellar ataxia type 2 19 43 20 22 21 45 49 61
spinocerebellar ataxia type 1 19 20 22 21 45 49 61
spinocerebellar ataxia 1 8 9 43 47
spinocerebellar ataxia 2 8 9 43 47
olivopontocerebellar atrophy 1 43 61
olivopontocerebellar atrophy 2 43 61
olivopontocerebellar atrophies 45 61
thomas syndrome 43 49
sca 2 19 43
sca2 21 49
sca1 21 49
potter sequence - cleft lip/palate - cardiopathy 49
olivopontocerebellar atrophy holguin type 43
olivopontocerebellar degeneration 8
cerebelloparenchymal disorder 1 43
olivopontocerebellar atrophy i 21
olivopontocerebellar atrophy 4 43
type 1 spinocerebellar ataxia 21
spinocerebellar atrophy i 21
dejerine-thomas syndrome 8
wadia-swami syndrome 8
thomas' syndrome 8
menzel type opca 43
opca1 43
sdsem 43
sca 1 19
opca 43


External Ids:

Disease Ontology8 DOID:14784
MeSH35 D009849
NCIt40 C84947
MESH via Orphanet36 C536514
ICD10 via Orphanet26 Q87.8, G11
UMLS via Orphanet62 C2931225, C0752120, C0752121

Related Diseases for Olivopontocerebellar Atrophy

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Olivopontocerebellar Atrophy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 139)
idRelated DiseaseScoreTop Affiliating Genes
1muscular atrophy30.6MAP1B
2striatonigral degeneration30.5RPS27A, SNCA, MAP2, SLC6A3
3spinocerebellar ataxia type 1230.5ATXN2, ATXN7, ATXN1
4dentatorubral-pallidoluysian atrophy30.5ATXN2, ATXN1
5spinocerebellar ataxia type 730.3ATXN7, ATXN2
6spinocerebellar ataxia30.3ATXN2, ATXN2L, ATXN1
7parkinson's disease30.3SLC6A3, TH, MAPT, SNCA, RPS27A
8huntington's disease30.3ATXN1, CHAT
9amyloidosis30.3MAPT, SNCA, RPS27A
10spinocerebellar ataxia type 330.3RPS27A, SNCA, ATXN2, ATXN7, ATXN1, SLC6A3
11brain disease30.2TSPO, TH, MAPT, CHAT, SNCA
12alzheimer's disease30.2RPS27A, SNCA, CHAT, MAP1B, MAP2, MAPT
13spinocerebellar degeneration30.1GLUD1, ATXN1, ATXN2, RPS27A
14blindness30.1TSPO, ATXN7
15lateral sclerosis30.1SNCA, MAPT
16pick's disease30.1MAPT, CHAT, SNCA, RPS27A
17amyotrophic lateral sclerosis30.1RPS27A, SNCA, ATXN2, TSPO, SLC6A3, CHAT
18essential tremor30.0SNCA, SLC6A3
19hereditary ataxia30.0ATXN2, ATXN7, ATXN1
20neuronal intranuclear inclusion disease29.9RPS27A
21bipolar disorder29.9TSPO, SLC6A3, TH, MAP2
22cerebral atrophy10.5
23ataxia10.5
24cervical dystonia10.4
25olivopontocerebellar atrophy deafness10.4
26dent's disease10.4
27dentatorubral atrophy10.4
28adrenoleukodystrophy10.3
29spinal muscular atrophy10.3
30myoclonus10.3
31n syndrome10.2
32spinocerebellar atrophy10.2
33sleep disorder10.2
34obesity, early-onset10.2
35parkinson disease 110.2
36hypogonadism, hypergonadotropic10.2
37parkinson disease 1210.2
38argyll robertson pupil10.2
39episodic ataxia10.2
40restless legs syndrome10.2
41transthyretin amyloidosis10.2
42stiff-person syndrome10.2
43cone dystrophy10.2
44familial transthyretin amyloidosis10.2
45spinocerebellar ataxia type 610.2
46spinocerebellar ataxia with axonal neuropathy, autosomal recessive10.2
47infantile onset spinocerebellar ataxia10.1
48spinocerebellar ataxia autosomal recessive 110.1
49macular dystrophy10.1
50autonomic peripheral neuropathy10.1

Graphical network of the top 20 diseases related to Olivopontocerebellar Atrophy:



Diseases related to olivopontocerebellar atrophy

Clinical Features for Olivopontocerebellar Atrophy

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

164500,164400,183090

Clinical synopsis from OMIM:

164400

Symptoms:

49 (show all 12)
  • cleft lip and palate
  • congenital cardiac anomaly/malformation/cardiopathy
  • agenesis/hypoplasia/aplasia of kidneys
  • multicystic kidney/renal dysplasia
  • autosomal recessive inheritance
  • early death/lethality
  • oligoamnios
  • dolichocephaly/scaphocephaly
  • high forehead
  • hypertelorism
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • hypoplastic left heart/ventricle

Drugs & Therapeutics for Olivopontocerebellar Atrophy

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

Approved drugs:

Search CenterWatch for Olivopontocerebellar Atrophy

Drug clinical trials:

Search ClinicalTrials for Olivopontocerebellar Atrophy

Search NIH Clinical Center for Olivopontocerebellar Atrophy

Search CenterWatch for Olivopontocerebellar Atrophy

Genetic Tests for Olivopontocerebellar Atrophy

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Olivopontocerebellar Atrophy:

id Genetic test Affiliating Genes
1 Spinocerebellar Ataxia Type 120 ATXN1
2 Spinocerebellar Ataxia Type 220 ATXN2
3 Spinocerebellar Ataxia 222
4 Spinocerebellar Ataxia 122

Anatomical Context for Olivopontocerebellar Atrophy

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Olivopontocerebellar Atrophy:

33
Brain, Cortex, Cerebellum, Spinal cord, Skin, Pons

Animal Models for Olivopontocerebellar Atrophy or affiliated genes

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

Publications for Olivopontocerebellar Atrophy

Sources:
51PubMed
See all sources

Articles related to Olivopontocerebellar Atrophy:

(show top 50)    (show all 182)
idTitleAuthorsYear
1
Corticobasal degeneration with olivopontocerebellar atrophy and TDP-43 pathology: an unusual clinicopathologic variant of CBD. (23371366)
2013
2
Olivopontocerebellar atrophy: toward a better nosological definition. (16874757)
2006
3
An autopsy case of early ("minimal change") olivopontocerebellar atrophy (multiple system atrophy-cerebellar). (15971057)
2005
4
Olivopontocerebellar atrophy in two adult cats, sporadic cases or new genetic entity. (14715964)
2004
5
Unusual association of sporadic olivopontocerebellar atrophy and motor neuron disease. (12522682)
2002
6
Patterns of neuropsychological performance in multiple system atrophy compared to sporadic and hereditary olivopontocerebellar atrophy. (12464189)
2002
7
Evolution of sporadic olivopontocerebellar atrophy into multiple system atrophy. (10953186)
2000
8
Preclinical impairment of the striatal dopamine transporter system in sporadic olivopontocerebellar atrophy: studied with [(123)I]beta-CIT and SPECT. (10601804)
2000
9
Olivopontocerebellar atrophy: paraneoplastic syndrome of brain tumour? (10886320)
2000
10
Olivopontocerebellar atrophy and peripheral neuropathy--Wadia type. (10999111)
1999
11
Pathology of the cerebellar dentate nucleus in sporadic olivopontocerebellar atrophy: a morphometric investigation. (8782162)
1996
12
Tracheostomy can make a difference in recurrent respiratory failure secondary to olivopontocerebellar atrophy. (8830454)
1996
13
Glial and neuronal cytoplasmic inclusions in familial olivopontocerebellar atrophy. (8957028)
1996
14
A comparison of cerebral blood flow and glucose metabolism in olivopontocerebellar atrophy using PET. (7617196)
1995
15
Positron emission tomography studies on the dopaminergic system and striatal opioid binding in the olivopontocerebellar atrophy variant of multiple system atrophy. (7755350)
1995
16
Exclusion of the gene locus for spinal muscular atrophy on chromosome 5q in a family with infantile olivopontocerebellar atrophy (OPCA) and anterior horn cell degeneration. (7719136)
1995
17
Decrease in cerebellin and corticotropin-releasing hormone in the cerebellum of olivopontocerebellar atrophy and Shy-Drager syndrome. (7583264)
1995
18
Structural and immunocytochemical features of olivopontocerebellar atrophy caused by the spinocerebellar ataxia type 1 (SCA-1) mutation define a unique phenotype. (8615077)
1995
19
Multiple systems atrophy and nonfamilial olivopontocerebellar atrophy are the same disease. (7755347)
1995
20
Elevated stimulatory and reduced inhibitory G protein alpha subunits in cerebellar cortex of patients with dominantly inherited olivopontocerebellar atrophy. (8473899)
1993
21
Phospholipid metabolite levels are altered in cerebral cortex of patients with dominantly inherited olivopontocerebellar atrophy. (8272265)
1993
22
Progression of retinopathy in olivopontocerebellar atrophy with retinal degeneration. (1580852)
1992
23
Cytoskeletal protein abnormalities in patients with olivopontocerebellar atrophy--an immunocytochemical and Gallyas silver impregnation study. (1630577)
1992
24
Argyrophilic ubiquitinated cytoplasmic inclusions of Leu-7-positive glial cells in olivopontocerebellar atrophy (multiple system atrophy). (1723828)
1991
25
Degeneration of the corticopontine tract in olivopontocerebellar atrophy. (1899961)
1991
26
Striatonigral degeneration, olivopontocerebellar atrophy and "atypical" Pick disease. (1711756)
1991
27
Nocturnal stridor in olivopontocerebellar atrophy. (2267479)
1990
28
Olivopontocerebellar atrophy: MR diagnosis and relationship to multisystem atrophy. (2305051)
1990
29
Blepharospasm associated with olivopontocerebellar atrophy. (2531169)
1989
30
Olivopontocerebellar atrophy in a large Iakut kinship in eastern Siberia. (2812335)
1989
31
Non-Alzheimer-type pattern of brain cholineacetyltransferase reduction in dominantly inherited olivopontocerebellar atrophy. (2802535)
1989
32
Auditory brainstem response patterns in familial and sporadic olivopontocerebellar atrophy. (3224625)
1988
33
Familial olivopontocerebellar atrophy with neonatal onset: a recessively inherited syndrome with systemic and biochemical abnormalities. (3162953)
1988
34
Speech disorders in olivopontocerebellar atrophy correlate with positron emission tomography findings. (3261572)
1988
35
Electrophysiologic study in olivopontocerebellar atrophy. (3472878)
1987
36
Neurotransmitter receptors in olivopontocerebellar atrophy: an autoradiographic study. (2868427)
1986
37
Olivopontocerebellar atrophy with dementia, blindness, and chorea. Response to baclofen. (4026607)
1985
38
Reduction of noradrenaline in cerebellum of patients with olivopontocerebellar atrophy. (6707646)
1984
39
Electromyography and nerve conduction study in autosomal dominant olivopontocerebellar atrophy. (6716108)
1984
40
Clinical features of sporadic (Dejerine-Thomas) olivopontocerebellar atrophy. (6496227)
1984
41
Four biochemically different types of dominantly inherited olivopontocerebellar atrophy. (6149676)
1984
42
Morphological changes of olivopontocerebellar atrophy in computed tomography and comments on its pathogenesis. (6496229)
1984
43
The pharmacology of olivopontocerebellar atrophy. (6496225)
1984
44
Autonomic nerve calcification and peripheral neuropathy in olivopontocerebellar atrophy. (7276985)
1981
45
Olivopontocerebellar atrophy in children: a report of seven cases in two families. (7316488)
1981
46
Olivopontocerebellar atrophy with visual disturbances. An ophthalmologic investigation into four generations. (7443212)
1980
47
Olivopontocerebellar atrophy with velopharyngolaryngeal paralysis: a contribution to the somatotopy of the nucleus ambiguus. (448399)
1979
48
Hereditary olivopontocerebellar atrophy. (13523291)
1958
49
Olivopontocerebellar atrophy. (13297122)
1956
50
Olivopontocerebellar atrophy in a cat. (21010608)
1946

Genetic Variations for Olivopontocerebellar Atrophy

Expression for genes affiliated with Olivopontocerebellar Atrophy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Olivopontocerebellar Atrophy

Search GEO for disease gene expression data for Olivopontocerebellar Atrophy.

Pathways for genes affiliated with Olivopontocerebellar Atrophy

Sources:
50PharmGKB, 38NCBI BioSystems Database, 30KEGG, 4Cell Signaling Technology
See all sources

Pathways related to Olivopontocerebellar Atrophy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.1CHAT, TH
29.9SLC6A3, TH, SNCA
3
Hide members
9.9SLC6A3, TH, GNAI2
49.7SNCA, ATXN2, TH, SLC6A3
59.3TH, GLUD1, MAPT, MAP2, ATXN1, SNCA

Compounds for genes affiliated with Olivopontocerebellar Atrophy

Sources:
45Novoseek, 11DrugBank, 29IUPHAR, 24HMDB, 60Tocris Bioscience, 50PharmGKB, 2BitterDB
See all sources

Compounds related to Olivopontocerebellar Atrophy according to GeneCards/GeneDecks:

(show top 50)    (show all 89)
idCompoundScoreTop Affiliating Genes
1d amphetamine4510.2TSPO, SLC6A3, TH
2ibotenic acid4510.2SLC6A3, TH, CHAT
3thioflavine s4510.2RPS27A, SNCA, MAPT
41-benzyl-1,2,3,4-tetrahydroisoquinoline4510.2SLC6A3, SNCA
5quisqualate45 1111.2CHAT, MAP2, MAPT
6carbidopa45 2911.2SLC6A3, TH, NPPA
71 methyl 4 phenylpyridinium4510.1SLC6A3, TH, SNCA
8apomorphine45 29 1112.1SNCA, CHAT, TH, SLC6A3
9valproate4510.0MAPT, GLUD1, TH, SLC6A3
10spec-t4510.0NPPA, MAPT, SLC6A3, TSPO
114-hydroxynonenal45 2410.9MAPT, CHAT, SNCA, RPS27A
12selegiline45 1110.9SLC6A3, TH, SNCA
13rotenone459.9RPS27A, SNCA, TH, SLC6A3, TSPO
14l-amino acid459.9CHAT, MAP2, TH
15mptp459.9RPS27A, SNCA, TH, SLC6A3, TSPO
166-hydroxydopamine459.9RPS27A, SNCA, CHAT, TH, SLC6A3
17levodopa45 1110.9TSPO, SLC6A3, TH, SNCA, RPS27A
18kainate45 2910.9CHAT, MAP2, MAPT, TH, TSPO
19corticosterone45 60 2411.8MAP2, CBLN3, TH, TSPO
20morphine45 50 29 1112.8NPPA, TH, SLC6A3, TSPO
21sodium dodecylsulfate459.8RPS27A, NPPA, SNCA, MAPT, GLUD1
22glycerol45 11 2411.8TSPO, GLUD1, MAPT, NPPA, RPS27A
23cocaine45 1110.8SNCA, CHAT, MAP2, TH, SLC6A3, TSPO
24catecholamine459.8NPPA, SNCA, CHAT, CBLN3, TH
25methamphetamine45 50 1111.8RPS27A, SNCA, CHAT, MAP2, TH, SLC6A3
26haloperidol45 29 2 50 1113.7NPPA, CHAT, GLUD1, TH, SLC6A3, TSPO
27thioflavin459.7MAPT, SNCA
285-hydroxytryptamine459.7TSPO, SLC6A3, TH, CHAT
29polyacrylamide459.7HAAO, ATXN2, ATXN7, MAP1B, GLUD1
30valine459.7RPS27A, SNCA, MAPT, GLUD1, SLC6A3, TSPO
31nicotine45 50 29 1112.7CHAT, MAP2, MAPT, TH, SLC6A3, TSPO
32silver459.6RPS27A, SNCA, CHAT, MAP1B, MAP2, MAPT
33lactate459.6TH, GLUD1, MAPT, MAP2, CHAT, RPS27A
34glycogen45 2410.5RPS27A, SNCA, CHAT, MAP1B, MAP2, MAPT
35choline45 11 2411.5SNCA, CHAT, MAP2, MAPT, GLUD1, TH
36creatinine459.5RPS27A, NPPA, MAPT, GLUD1, SLC6A3, TSPO
37aspartate459.5RPS27A, CHAT, MAPT, GLUD1, TH, SLC6A3
38paraffin459.4RPS27A, SNCA, CHAT, MAP1B, MAP2, MAPT
39gaba459.3RPS27A, CHAT, MAP1B, MAP2, GLUD1, TH
40acetylcholine45 50 29 11 2413.3RPS27A, SNCA, CHAT, MAPT, GLUD1, TH
41arginine459.3RPS27A, NPPA, SNCA, MAPT, GLUD1, SLC6A3
42h2o2459.3RPS27A, SNCA, MAP2, MAPT, GLUD1, TH
43glutamine459.3RPS27A, SNCA, ATXN2, ATXN7, ATXN1, MAPT
44norepinephrine45 11 2411.3NPPA, SNCA, CHAT, MAP2, CBLN3, TH
45alanine459.2RPS27A, SNCA, CHAT, MAPT, GLUD1, TH
46testosterone45 60 11 2412.1RPS27A, NPPA, SNCA, ATXN1, CHAT, MAP2
47glutamate459.1RPS27A, SNCA, CHAT, MAP2, MAPT, GLUD1
48dopamine45 29 11 2412.1RPS27A, NPPA, SNCA, CHAT, MAP2, MAPT
49nmda45 2910.1TSPO, RPS27A, CHAT, MAP1B, MAP2, MAPT
50estrogen459.0RPS27A, NPPA, CHAT, MAP2, MAPT, TH

GO Terms for genes affiliated with Olivopontocerebellar Atrophy

Sources:
16Gene Ontology
See all sources

Cellular components related to Olivopontocerebellar Atrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nuclear peripheryGO:03439910.0MAPT, MAP2
2microtubule associated complexGO:0058759.9MAPT, MAP2, MAP1B
3axonGO:0304249.6SNCA, CHAT, MAPT, SLC6A3
4neuronal cell bodyGO:0430259.4STRN, CHAT, MAP2, SLC6A3
5cytosolGO:0058298.3RPS27A, GNAI2, HAAO, SNCA, CHAT, MAP1B
6cytoplasmGO:0057378.3GNAI2, STRN, SNCA, ATXN2, ATXN7, ATXN1

Biological processes related to Olivopontocerebellar Atrophy according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of insulin-like growth factor receptor signaling pathwayGO:04356910.2ATXN1, ATXN7
2negative regulation of intracellular transportGO:03238710.1MAPT, MAP1B
3stress granule assemblyGO:03406310.1ATXN2L, ATXN2
4dopamine biosynthetic processGO:04241610.1SLC6A3, TH, SNCA
5neurotransmitter biosynthetic processGO:04213610.1SLC6A3, TH, CHAT
6dendrite developmentGO:01635810.0STRN, CHAT, MAP1B
7cell deathGO:00821910.0ATXN2, ATXN7, ATXN1, SLC6A3
8mitochondrion transport along microtubuleGO:0474979.9MAPT, MAP1B
9axon extensionGO:0486759.9MAPT, MAP1B
10locomotory behaviorGO:0076269.7STRN, TH, SLC6A3
11agingGO:0075689.6TSPO, SLC6A3, SNCA

Molecular functions related to Olivopontocerebellar Atrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1dopamine bindingGO:03524010.0SLC6A3, TH
2ferrous iron bindingGO:0081989.8TH, SNCA, HAAO
3microtubule bindingGO:0080179.3MAPT, MAP2, MAP1B, SNCA
4protein bindingGO:0055157.4ATXN2L, ATXN7, ATXN2, SNCA, STRN, GNAI2

Products for genes affiliated with Olivopontocerebellar Atrophy

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  • Lysates
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Sources for Olivopontocerebellar Atrophy

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