MCID: OLV001
MIFTS: 67

Olivopontocerebellar Atrophy malady

Rare diseases, Cardiovascular diseases, Nephrological diseases, Fetal diseases categories

Summaries for Olivopontocerebellar Atrophy

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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 based summary: Olivopontocerebellar Atrophy, also known as olivopontocerebellar atrophies, is related to multiple system atrophy and dementia, and has symptoms including multicystic kidney dysplasia, oral cleft and oligohydramnios. 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 Biogenic Amine Synthesis. The compounds ibotenic acid and d amphetamine have been mentioned in the context of this disorder. Affiliated tissues include brain, cerebellum and pons, and related mouse phenotypes are endocrine/exocrine gland and normal.

Disease Ontology:10 A spinocerebellar ataxia that is characterized by progressive cerebellar ataxia, leading to clumsiness in body movements, veering from midline when walking, wide-based stance, and falls without signs of paralysis or weakness and has material basis in expansion of cag triplet repeats (glutamine) resulting in degeneration of neuron in the cerebellum, pons and inferior olives.

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:65 Olivopontocerebellar atrophy (OPCA) is the degeneration of neurons in specific areas of the brain ? the... more...

Aliases & Classifications for Olivopontocerebellar Atrophy

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Sources:
10Disease Ontology, 43NIH Rare Diseases, 44NINDS, 62UMLS, 49Orphanet, 45Novoseek, 40NCIt, 57SNOMED-CT, 35MeSH, 36MESH via Orphanet, 28ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Olivopontocerebellar Atrophy, Aliases & Descriptions:

Name: Olivopontocerebellar Atrophy 10 43 44
Olivopontocerebellar Atrophies 45 62
Thomas Syndrome 43 49
Spinocerebellar Degeneration with Slow Eye Movements 62
Potter Sequence - Cleft Lip/palate - Cardiopathy 49
Spinocerebellar Ataxia with Slow Eye Movements 62
Olivo-Ponto-Cerebellar Degeneration 62
Olivopontocerebellar Degeneration 10
Olivopontocerebellar Atrophy 1 62
Olivopontocerebellar Atrophy 2 62
Olivopontocerebellar Atrophy I 62
Spinocerebellar Ataxia Type 2 62
 
Spinocerebellar Ataxia Type 1 62
Spinocerebellar Atrophy 2 62
Spinocerebellar Atrophy 1 62
Schut-Haymaker Type Opca 62
Spinocerebellar Ataxia 2 10
Spinocerebellar Ataxia 1 10
Dejerine-Thomas Syndrome 10
Wadia Swami Syndrome 62
Wadia-Swami Syndrome 10
Thomas' Syndrome 10
Opca4 62
Opca 43


Classifications:



Characteristics (Orphanet epidemiological data):

49
thomas syndrome:
Age of onset: Infancy,Neonatal


External Ids:

Disease Ontology10 DOID:14784
NCIt40 C84947
MeSH35 D009849
Orphanet49 3316
MESH via Orphanet36 C536514
ICD10 via Orphanet28 Q87.8
UMLS via Orphanet63 C2931225

Related Diseases for Olivopontocerebellar Atrophy

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

(show top 50)    (show all 108)
idRelated DiseaseScoreTop Affiliating Genes
1multiple system atrophy30.9RPS27A, MAP2, TSPO, CHAT, TH, SLC6A3
2dementia30.7TH, MAP2, CHAT, SLC6A3, RPS27A, TSPO
3striatonigral degeneration30.6SLC6A3, MAP2, RPS27A
4spinal muscular atrophy30.5MAP1B, CHAT
5spinocerebellar ataxia 730.4ATXN2, ATXN7
6spinocerebellar ataxia30.4ATXN2
7spinocerebellar degeneration30.2GLUD1, ATXN2, RPS27A
8pick disease30.2CHAT, RPS27A, MAPT
9machado-joseph disease30.2ATXN7, SLC6A3, ATXN2, RPS27A
10schizophrenia30.1CHAT, MAP2, MBP, SLC6A3, GLUD1, MAP1B
11cerebritis10.5
12spinocerebellar ataxia 110.5
13ataxia10.5
14neuronitis10.5
15retinal degeneration10.5
16retinitis10.5
17neuropathy10.4
18peripheral neuropathy10.4
19olivopontocerebellar atrophy deafness10.4
20spinocerebellar ataxia 210.3
21adrenoleukodystrophy10.3
22muscular atrophy10.3
23myoclonus10.3
24cerebellar ataxia10.3
25de sanctis-cacchione syndrome10.1
26insulin-like growth factor i10.1
27mitochondrial complex iii deficiency, nuclear type 210.1
28ifap syndrome with or without bresheck syndrome10.1
29duchenne muscular dystrophy10.1
30cataract10.1
31motor neuron disease10.1
32lateral sclerosis10.1
33motor peripheral neuropathy10.1
34blepharospasm10.1
35muscular dystrophy10.1
36respiratory failure10.1
37speech disorder10.1
38cerebellar degeneration10.1
39corticobasal degeneration10.1
40microphthalmia microtia fetal akinesia10.1
41autonomic dysfunction10.1
42paraneoplastic syndromes10.1
43blindness10.1
44multiple system atrophy, cerebellar type10.1
45neuronal intranuclear inclusion disease10.1RPS27A
46ophthalmoplegia10.1ATXN7
47rem sleep behavior disorder10.0SLC6A3
48vacterl association10.0
49sirenomelia10.0
50renal hypoplasia10.0

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



Diseases related to olivopontocerebellar atrophy

Symptoms for Olivopontocerebellar Atrophy

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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

HPO human phenotypes related to Olivopontocerebellar Atrophy:

(show all 9)
id Description Frequency HPO Source Accession
1 multicystic kidney dysplasia hallmark (90%) HP:0000003
2 oral cleft hallmark (90%) HP:0000202
3 oligohydramnios hallmark (90%) HP:0001562
4 renal hypoplasia/aplasia hallmark (90%) HP:0008678
5 dolichocephaly typical (50%) HP:0000268
6 hypertelorism typical (50%) HP:0000316
7 high forehead typical (50%) HP:0000348
8 downslanted palpebral fissures typical (50%) HP:0000494
9 hypoplastic left heart typical (50%) HP:0004383

Drugs & Therapeutics for Olivopontocerebellar Atrophy

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Drug clinical trials:

Search ClinicalTrials for Olivopontocerebellar Atrophy

Search NIH Clinical Center for Olivopontocerebellar Atrophy

Genetic Tests for Olivopontocerebellar Atrophy

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Anatomical Context for Olivopontocerebellar Atrophy

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MalaCards organs/tissues related to Olivopontocerebellar Atrophy:

33
Brain, Cerebellum, Pons, Eye, Spinal cord, Kidney, Heart, Cortex, Skin

Animal Models for Olivopontocerebellar Atrophy or affiliated genes

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MGI Mouse Phenotypes related to Olivopontocerebellar Atrophy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.5TH, GLUD1, SLC6A3, MAP2, GNAI2, ATXN2
2MP:00028738.2TH, CHAT, CBLN3, MAPT, MBP, SLC6A3
3MP:00053897.8MAP2, ATXN7, ATXN2, CHAT, SLC6A3, MAP1B
4MP:00053787.2CHAT, GNAI2, ATXN2, ATXN7, MAP2, MAP1B
5MP:00053767.0MBP, SLC6A3, TH, ATXN2, GNAI2, CHAT
6MP:00107686.8MBP, TH, ATXN7, ATXN2, GNAI2, CHAT
7MP:00053866.5MAP2, ATXN7, ATXN2, GNAI2, CHAT, CBLN3
8MP:00036316.5TH, SLC6A3, ATXN7, ATXN2, GNAI2, CHAT

Publications for Olivopontocerebellar Atrophy

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Articles related to Olivopontocerebellar Atrophy:

(show top 50)    (show all 182)
idTitleAuthorsYear
1
Olivopontocerebellar atrophy: toward a better nosological definition. (16874757)
2006
2
Autonomic nervous evaluation in the early stages of olivopontocerebellar atrophy. (16289940)
2005
3
Peculiar aspects of reading and writing performances in patients with olivopontocerebellar atrophy. (12027365)
2002
4
Evolution of sporadic olivopontocerebellar atrophy into multiple system atrophy. (10953186)
2000
5
Oxidative injury is present in Purkinje cells in patients with olivopontocerebellar atrophy. (10831770)
2000
6
Olivopontocerebellar atrophy and peripheral neuropathy--Wadia type. (10999111)
1999
7
Early onset cerebellar ataxia with retained tendon reflexes (EOCA) and olivopontocerebellar atrophy (OPCA): a computed tomographic study. (10625898)
1999
8
Vecuronium dose requirement and pupillary response in a patient with olivopontocerebellar atrophy (OPCA). (9836034)
1998
9
Purkinje cells in olivopontocerebellar atrophy and granule cell-type cerebellar degeneration: an immunohistochemical study. (9678515)
1998
10
Olivopontocerebellar atrophy and multiple system atrophy: clinical follow-up of 10 patients studied with PET. (9667610)
1998
11
Neurobehavioral dimensions of olivopontocerebellar atrophy. (9672819)
1998
12
Movement-related cortical potentials and contingent negative variation in olivopontocerebellar atrophy. (9343719)
1997
13
Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I. (8923302)
1996
14
The relationship of multiple system atrophy to sporadic olivopontocerebellar atrophy and other forms of idiopathic late-onset cerebellar atrophy. (8628452)
1996
15
Familial infantile olivopontocerebellar atrophy. (7575842)
1995
16
A comparison of cerebral blood flow and glucose metabolism in olivopontocerebellar atrophy using PET. (7617196)
1995
17
Striatal dihydroxyphenylalanine decarboxylase and tyrosine hydroxylase protein in idiopathic Parkinson's disease and dominantly inherited olivopontocerebellar atrophy. (7885342)
1995
18
The Purkinje cell in olivopontocerebellar atrophy. A Golgi and immunocytochemical study. (7516051)
1994
19
Brainstem reflexes in patients with olivopontocerebellar atrophy. (7969244)
1994
20
Facial action myoclonus in patients with olivopontocerebellar atrophy. (8196688)
1994
21
Reflex myoclonus in olivopontocerebellar atrophy. (8158179)
1994
22
Inherited syndrome of infantile olivopontocerebellar atrophy, micronodular cirrhosis, and renal tubular microcysts: review of the literature and a report of an additional case. (8256592)
1993
23
Machado-Joseph disease in New England: clinical description and distinction from the olivopontocerebellar atrophies. (1620136)
1992
24
Quinolinic acid catabolism is increased in cerebellum of patients with dominantly inherited olivopontocerebellar atrophy. (1825460)
1991
25
Olivopontocerebellar atrophy of neonatal onset and disialotransferrin developmental deficiency syndrome. (1929507)
1991
26
Argyrophilic ubiquitinated cytoplasmic inclusions of Leu-7-positive glial cells in olivopontocerebellar atrophy (multiple system atrophy). (1723828)
1991
27
Brain amino acid reductions in one family with chromosome 6p-linked dominantly inherited olivopontocerebellar atrophy. (1686387)
1991
28
Nocturnal stridor in olivopontocerebellar atrophy. (2267479)
1990
29
Morphometric studies in dominant olivopontocerebellar atrophy. Comparison of cell losses with amino acid decreases. (2302090)
1990
30
Cytoplasmic argyrophilic inclusions in neurons of pontine nuclei in patients with olivopontocerebellar atrophy: immunohistochemical and ultrastructural studies. (2163181)
1990
31
Olivopontocerebellar atrophy presenting with hemiparkinsonian ocular motor signs. (2144540)
1990
32
Blepharospasm associated with olivopontocerebellar atrophy. (2531169)
1989
33
Olivopontocerebellar atrophy in a large Iakut kinship in eastern Siberia. (2812335)
1989
34
Non-Alzheimer-type pattern of brain cholineacetyltransferase reduction in dominantly inherited olivopontocerebellar atrophy. (2802535)
1989
35
Olivopontocerebellar atrophy. (3195154)
1988
36
Auditory brainstem response patterns in familial and sporadic olivopontocerebellar atrophy. (3224625)
1988
37
Brain choline acetyltransferase reduction in dominantly inherited olivopontocerebellar atrophy. (3477997)
1987
38
Glutamate dehydrogenase and its isozyme activity in olivopontocerebellar atrophy. (3734837)
1986
39
Sensory and motor peripheral neuropathy in olivopontocerebellar atrophy. (3014798)
1986
40
Neuronal loss in the basal nucleus of Meynert in a patient with olivopontocerebellar atrophy. (4013667)
1985
41
Enzymatic analysis of individual posterior root ganglion cells in olivopontocerebellar atrophy, amyotrophic lateral sclerosis and Duchenne muscular dystrophy. (4045497)
1985
42
Reduction of noradrenaline in cerebellum of patients with olivopontocerebellar atrophy. (6707646)
1984
43
Electromyography and nerve conduction study in autosomal dominant olivopontocerebellar atrophy. (6716108)
1984
44
Benzodiazepine receptor binding in cerebellar cortex: observations in olivopontocerebellar atrophy. (6319600)
1984
45
The neuropathology of olivopontocerebellar atrophy. (6388270)
1984
46
Abnormal metabolism of neuroexcitatory amino acids in olivopontocerebellar atrophy. (6149677)
1984
47
Evoked potentials in olivopontocerebellar atrophy. (6847444)
1983
48
Olivopontocerebellar atrophy with velopharyngolaryngeal paralysis: a contribution to the somatotopy of the nucleus ambiguus. (448399)
1979
49
Olivopontocerebellar atrophy in a cat. (21010608)
1946
50
Olivopontocerebellar atrophy (heredocerebellar ataxia of Marie) with encephalographic findings. (20274023)
1946

Variations for Olivopontocerebellar Atrophy

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Clinvar genetic disease variations for Olivopontocerebellar Atrophy:

7
id Gene Variation Type Significance SNP ID Assembly Location
1ATXN2NP_002964.3: p.Gln166(> =33)NT expansionPathogenic

Expression for genes affiliated with Olivopontocerebellar Atrophy

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Search GEO for disease gene expression data for Olivopontocerebellar Atrophy.

Pathways for genes affiliated with Olivopontocerebellar Atrophy

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Pathways related to Olivopontocerebellar Atrophy according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0TH, CHAT
2
Show member pathways
catecholamine biosynthesis38
10.0TH, CHAT
3
Show member pathways
9.7MAPT, MAP2
49.7MAP2, GABBR1, CHAT
59.6TH, MAP2, CHAT
69.6ATXN2, TH, SLC6A3
7
Show member pathways
9.5TH, GNAI2, SLC6A3
89.4MAP1B, MAPT
9
Show member pathways
creatine-phosphate biosynthesis38
glycine degradation (creatine biosynthesis)38
putrescine biosynthesis III38
spermidine biosynthesis I38
tryptophan degradation via kynurenine38
spermine biosynthesis38
urea cycle38
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I38
tyrosine degradation I38
L-carnitine biosynthesis38
methylthiopropionate biosynthesis38
2-oxoglutarate decarboxylation to succinyl-CoA38
S-methyl-5-thioadenosine degradation II38
9.4GLUD1, TH, HAAO
10
Show member pathways
9.4SLC6A3, GNAI2, CHAT, GABBR1
11
Show member pathways
9.1TH, GNAI2, CHAT, GABBR1, SLC6A3
12
Show member pathways
9.0TH, ATXN7, SLC6A3, NPPA, GNAI2
138.9GABBR1, GLUD1, MAPT, MAP2, TH

Compounds for genes affiliated with Olivopontocerebellar Atrophy

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Compounds related to Olivopontocerebellar Atrophy according to GeneCards/GeneDecks:

(show top 50)    (show all 142)
idCompoundScoreTop Affiliating Genes
1ibotenic acid459.9TH, CHAT, SLC6A3
2d amphetamine459.8SLC6A3, TSPO, TH
3gamma-hydroxybutyrate459.8TSPO, GABBR1, GLUD1
4carbidopa45 3010.7TH, NPPA, SLC6A3
56-hydroxydopamine459.7RPS27A, CHAT, TH, SLC6A3
6rotenone459.6TH, SLC6A3, RPS27A, TSPO
7mptp459.6TH, TSPO, RPS27A, SLC6A3
8quisqualate45 1310.5CHAT, MAP2, MAPT
9baclofen45 1310.5SLC6A3, GABBR1, TSPO
10opiate459.5TH, TSPO, SLC6A3, GABBR1
11methamphetamine45 51 1311.4SLC6A3, CHAT, TH, RPS27A, MAP2
12spec-t459.4MAPT, TSPO, NPPA, SLC6A3
135-hydroxytryptamine459.4GABBR1, SLC6A3, TSPO, CHAT, TH
14valproate459.3SLC6A3, GABBR1, GLUD1, MAPT, TH
15morphine45 51 30 1312.3SLC6A3, TH, TSPO, GABBR1, NPPA
16catecholamine459.3CBLN3, TH, NPPA, GABBR1, CHAT
17glycerol45 26 1311.2TSPO, RPS27A, MAPT, GLUD1, NPPA
18valine459.2TSPO, RPS27A, MAPT, GLUD1, SLC6A3
19formaldehyde45 2610.1MAPT, TH, CHAT, RPS27A, MBP
20haloperidol45 51 30 3 1313.1SLC6A3, CHAT, TH, NPPA, TSPO, GLUD1
21sodium dodecylsulfate459.1MBP, NPPA, GLUD1, RPS27A, MAPT
22corticosterone45 61 2611.0MAP2, MBP, TH, TSPO, CBLN3
23nicotine45 30 51 1312.0TH, TSPO, MAP2, MAPT, SLC6A3, CHAT
24polyacrylamide458.8HAAO, ATXN2, MAP1B, ATXN7, GLUD1
25testosterone45 61 26 1311.7CHAT, TSPO, TH, NPPA, MAPT, MAP2
26cyclosporin a45 30 6110.7NPPA, TSPO, RPS27A, MAPT, GLUD1, MBP
27epinephrine45 26 1310.7CBLN3, MBP, NPPA, TH, RPS27A
28cocaine45 139.6CHAT, TSPO, MAP2, GABBR1, MBP, SLC6A3
29kainate45 309.6GABBR1, TH, TSPO, MBP, MAPT, MAP2
30lactate458.6RPS27A, TH, CHAT, MAP2, MAPT, GLUD1
31silver458.6MAP2, RPS27A, CHAT, MAPT, MAP1B, MBP
32choline45 26 1310.5TH, SLC6A3, GLUD1, MAPT, MAP2, CHAT
33glutamine458.5RPS27A, MBP, TH, TSPO, MAPT, ATXN2
34creatinine458.4SLC6A3, NPPA, MBP, GLUD1, MAPT, TSPO
35alanine458.4CHAT, MAPT, GLUD1, MBP, SLC6A3, TH
36forskolin45 51 1310.3CHAT, TH, DYT10, GABBR1, MBP, NPPA
37aspartate458.3GABBR1, GLUD1, MAPT, RPS27A, CHAT, TH
38arginine458.3MBP, TSPO, RPS27A, MAPT, GLUD1, NPPA
39paraffin458.3MAPT, MAP1B, MAP2, RPS27A, CHAT, TH
40estrogen458.2TH, MAP2, MAPT, NPPA, CHAT, TSPO
41dopamine45 30 26 1311.2TSPO, CHAT, TH, NPPA, RPS27A, GABBR1
42acetylcholine45 51 30 26 1312.1RPS27A, TH, CHAT, TSPO, MAPT, GLUD1
43adenylate458.0DYT10, MAP2, RPS27A, MBP, GABBR1, TH
44cyclic amp45 268.9MAP2, CHAT, TH, NPPA, DYT10, GABBR1
45norepinephrine45 26 139.9TSPO, NPPA, SLC6A3, TH, CHAT, CBLN3
46gaba457.6GABBR1, RPS27A, GLUD1, MAP1B, MAP2, CHAT
47threonine457.5MBP, DYT10, MAPT, CHAT, RPS27A, MAP2
48h2o2457.4RPS27A, TSPO, TH, MAP2, MAPT, DYT10
49glutamate456.9DYT10, SLC6A3, MAPT, MAP2, RPS27A, GLUD1
50nmda45 307.8GABBR1, SLC6A3, GLUD1, DYT10, TH, TSPO

GO Terms for genes affiliated with Olivopontocerebellar Atrophy

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

idNameGO IDScoreTop Affiliating Genes
1nuclear peripheryGO:00343999.6MAPT, MAP2
2microtubule associated complexGO:00058759.2MAP2, MAP1B, MAPT
3axonGO:00304249.2CHAT, MAPT, SLC6A3
4neuronal cell bodyGO:00430259.0CHAT, MAP2, MBP, SLC6A3
5cytosolGO:00058297.9TH, GNAI2, CHAT, RPS27A, MAP1B, MAPT
6cytoplasmGO:00057377.3SLC6A3, TH, ATXN7, ATXN2, GNAI2, CHAT

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1gamma-aminobutyric acid signaling pathwayGO:000721410.1GABBR1, GNAI2
2dopamine biosynthetic processGO:004241610.0SLC6A3, TH
3negative regulation of adenylate cyclase activityGO:000719410.0GNAI2, GABBR1
4neurotransmitter biosynthetic processGO:00421369.8TH, CHAT, SLC6A3
5negative regulation of intracellular transportGO:00323879.7MAPT, MAP1B
6mitochondrion transport along microtubuleGO:00474979.7MAPT, MAP1B
7axon extensionGO:00486759.6MAP1B, MAPT
8microtubule bundle formationGO:00015789.6MAP1B, MAP2
9positive regulation of axon extensionGO:00457739.6MAPT, MAP1B
10cell deathGO:00082199.6SLC6A3, ATXN2, ATXN7
11cellular nitrogen compound metabolic processGO:00346419.4GLUD1, TH, HAAO
12response to zinc ionGO:00100439.4TH, HAAO
13synaptic transmissionGO:00072688.8SLC6A3, MBP, GABBR1, TSPO, CHAT, GNAI2

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

idNameGO IDScoreTop Affiliating Genes
1dopamine bindingGO:00352409.7TH, SLC6A3
2ferrous iron bindingGO:00081989.4TH, HAAO
3microtubule bindingGO:00080179.1MAPT, MAP1B, MAP2
4protein bindingGO:00055156.7SLC6A3, TH, ATXN7, ATXN2, GNAI2, MAP2

Products for genes affiliated with Olivopontocerebellar Atrophy

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Sources for Olivopontocerebellar Atrophy

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet