OPCA
MCID: OLV001
MIFTS: 79

Olivopontocerebellar Atrophy (OPCA) malady

Genetic diseases, Rare diseases, Neuronal diseases, Cardiovascular diseases, Nephrological diseases, Fetal diseases categories

Summaries for Olivopontocerebellar Atrophy

About this section
Sources:
22Genetics Home Reference, 44NIH Rare Diseases, 45NINDS, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
NIH Rare Diseases:44 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 striatonigral degeneration and hereditary ataxia, and has symptoms including hypoplastic left heart/ventricle, oligoamnios and high forehead. An important gene associated with Olivopontocerebellar Atrophy is ATXN2 (ataxin 2), and among its related pathways are Biogenic Amine Synthesis and Sympathetic Nerve Pathway (Pre- and Post- Ganglionic Junction). The compounds ibotenic acid and d amphetamine have been mentioned in the context of this disorder. Affiliated tissues include brain, cerebellum and eye, and related mouse phenotypes are muscle and endocrine/exocrine gland.

Genetics Home Reference:22 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:45 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:66 Olivopontocerebellar atrophy (OPCA) is the degeneration of neurons in specific areas of the brain ? the... more...

Description from OMIM:48 164500,164400,183090

GeneReviews summary for sca1

GeneReviews summary for sca2

Aliases & Classifications for Olivopontocerebellar Atrophy

About this section
Sources:
9Disease Ontology, 44NIH Rare Diseases, 45NINDS, 10diseasecard, 48OMIM, 20GeneReviews, 21GeneTests, 23GTR, 22Genetics Home Reference, 46Novoseek, 50Orphanet, 63UMLS, 59SNOMED-CT, 41NCIt, 36MeSH, 37MESH via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

50
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 9 44 45
spinocerebellar ataxia type 2 20 44 21 23 22 46 50 63
spinocerebellar ataxia type 1 20 44 21 23 22 46 50 63
spinocerebellar ataxia 1 9 10 44 48
spinocerebellar ataxia 2 9 10 44 48
sca1 20 44 22 50
olivopontocerebellar atrophy 2 44 63
olivopontocerebellar atrophy 1 44 63
olivopontocerebellar atrophies 46 63
thomas syndrome 44 50
sca 2 20 44
sca2 22 50
spinocerebellar degeneration with slow eye movements 44
potter sequence - cleft lip/palate - cardiopathy 50
spinocerebellar ataxia with slow eye movements 44
olivopontocerebellar atrophy holguin type 44
spinocerebellar ataxia cuban type 44
olivopontocerebellar degeneration 9
cerebelloparenchymal disorder 1 44
olivopontocerebellar atrophy 4 44
olivopontocerebellar atrophy i 22
type 1 spinocerebellar ataxia 22
spinocerebellar atrophy 2 44
spinocerebellar atrophy 1 44
spinocerebellar atrophy i 22
schut-haymaker type opca 44
dejerine-thomas syndrome 9
wadia-swami syndrome 9
wadia swami syndrome 44
menzel type opca 44
thomas' syndrome 9
sdsem 44
opca1 44
opca4 44
opca 44


External Ids:

Disease Ontology9 DOID:14784
NCIt41 C84947
MeSH36 D009849
MESH via Orphanet37 C536514
ICD10 via Orphanet27 Q87.8, G11
UMLS via Orphanet64 C2931225, C0752120, C0752121

Related Diseases for Olivopontocerebellar Atrophy

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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

(show top 50)    (show all 147)
idRelated DiseaseScoreTop Affiliating Genes
1striatonigral degeneration30.7RPS27A, MAP2, SLC6A3
2hereditary ataxia30.7ATXN2, ATXN7, ATXN1
3multiple system atrophy30.6TH, ATXN1, CHAT, TSPO, RPS27A, MAP2
4dementia30.6TH, CHAT, TSPO, RPS27A, MAP2, MAPT
5dentatorubral-pallidoluysian atrophy30.6ATXN2, ATXN1
6spinocerebellar ataxia type 730.5ATXN2, ATXN7
7spinocerebellar ataxia30.4ATXN1, ATXN2
8parkinson's disease30.4SLC6A3, MAPT, RPS27A, TH
9mood disorder30.4TH, MAP2, GABBR1, SLC6A3
10multiple sclerosis30.3TSPO, MAP2, GLUD1, MBP
11spinocerebellar degeneration30.1ATXN1, ATXN2, RPS27A, GLUD1
12alzheimer's disease30.1TH, CHAT, TSPO, RPS27A, MAP2, MAP1B
13huntington's disease30.0ATXN1, CHAT
14schizophrenia29.9TH, ATXN1, SLC6A3, MBP, GABBR1, GLUD1
15amyotrophic lateral sclerosis29.9TSPO, RPS27A, MAP2, MAPT, GLUD1, SLC6A3
16spinocerebellar ataxia type 329.8ATXN1, ATXN7, ATXN2, RPS27A, SLC6A3
17cerebritis10.5
18ataxia10.5
19cervical dystonia10.5
20cervicitis10.5
21neuronitis10.5
22retinal degeneration10.5
23retinitis10.5
24neuropathy10.4
25peripheral neuropathy10.4
26adrenoleukodystrophy10.3
27muscular atrophy10.3
28spinal muscular atrophy10.3
29olivopontocerebellar atrophy deafness10.3
30myoclonus10.3
31cerebellar ataxia10.3
32episodic ataxia10.2
33generalized dystonia10.2
34restless legs syndrome10.2
35transthyretin amyloidosis10.2
36cone dystrophy10.2
37stiff-person syndrome10.2
38argyll robertson pupil10.2
39amyloidosis10.2
40dystonia10.2
41familial transthyretin amyloidosis10.2
42spinocerebellar ataxia with axonal neuropathy, autosomal recessive10.2
43endotheliitis10.2
44von hippel-lindau disease10.2
45focal epilepsy10.2
46hypogonadism10.2
47obesity10.2
48ophthalmoplegia10.2
49infantile onset spinocerebellar ataxia10.2
50neuronal intranuclear inclusion disease10.1RPS27A

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



Diseases related to olivopontocerebellar atrophy

Symptoms for Olivopontocerebellar Atrophy

About this section
Sources:
48OMIM, 50Orphanet
See all sources

Symptoms by clinical synopsis from OMIM:

164400

Clinical features from OMIM:

164500,164400,183090

Symptoms:

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

Drugs & Therapeutics for Olivopontocerebellar Atrophy

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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

About this section
Sources:
21GeneTests, 23GTR
See all sources

Genetic tests related to Olivopontocerebellar Atrophy:

id Genetic test Affiliating Genes
1 Spinocerebellar Ataxia Type 121 ATXN1
2 Spinocerebellar Ataxia Type 221 ATXN2
3 Spinocerebellar Ataxia 223
4 Spinocerebellar Ataxia 123

Anatomical Context for Olivopontocerebellar Atrophy

About this section
Sources:
34MalaCards
See all sources

MalaCards organs/tissues related to Olivopontocerebellar Atrophy:

34
Brain, Cerebellum, Eye, Pons, Spinal cord, Kidney, Cortex, Heart, Skin

Animal Models for Olivopontocerebellar Atrophy or affiliated genes

About this section
Sources:
38MGI
See all sources

MGI Mouse Phenotypes related to Olivopontocerebellar Atrophy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.6ATXN1, ATXN7, CHAT, MAPT, NPPA, SLC6A3
2MP:00053798.5TH, ATXN2, GNAI2, MAP2, GLUD1, SLC6A3
3MP:00028738.2SLC6A3, MBP, MAPT, CBLN3, CHAT, TH
4MP:00053897.8ATXN7, ATXN2, CHAT, MAP2, MAP1B, GABBR1
5MP:00053787.0GNAI2, ATXN2, ATXN7, ATXN1, TH, CHAT
6MP:00053767.0TH, ATXN1, ATXN2, GNAI2, CHAT, MAP1B
7MP:00107686.7GNAI2, ATXN2, ATXN7, ATXN1, TH, CHAT
8MP:00053866.3SLC6A3, TH, ATXN1, ATXN7, ATXN2, GNAI2
9MP:00036316.3GNAI2, ATXN2, ATXN7, ATXN1, TH, CHAT

Publications for Olivopontocerebellar Atrophy

About this section
Sources:
53PubMed
See all sources

Articles related to Olivopontocerebellar Atrophy:

(show top 50)    (show all 181)
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

About this section
Sources:
1 National Center for Biotechnology Information (Clinvar)
See all sources

Clinvar genetic disease variations for Olivopontocerebellar Atrophy:

1
id Gene Name Type Significance SNP ID Assembly Location
1ATXN2NP_002964.3: p.Gln166(> =33)NT expansionPathogenic/card/olivopontocerebellar_atrophy

Expression for genes affiliated with Olivopontocerebellar Atrophy

About this section
Sources:
2BioGPS, 16Gene 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

About this section
Sources:
51PathCards, 39NCBI BioSystems Database, 56Reactome, 52PharmGKB, 13EMD Millipore, 31KEGG, 5Cell Signaling Technology
See all sources

Pathways related to Olivopontocerebellar Atrophy according to GeneCards/GeneDecks:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
catecholamine biosynthesis39
10.0CHAT, TH
210.0TH, CHAT
39.7CHAT, MAP2, GABBR1
49.6MAP2, CHAT, TH
59.6SLC6A3, ATXN2, TH
6
Show member pathways
9.5SLC6A3, GNAI2, TH
79.4MAPT, MAP1B
8
Show member pathways
9.4SLC6A3, GABBR1, CHAT, GNAI2
9
Show member pathways
9.1TH, GNAI2, CHAT, GABBR1, SLC6A3
10
Show member pathways
9.0TH, ATXN7, GNAI2, NPPA, SLC6A3
118.7GABBR1, GLUD1, MAPT, MAP2, ATXN1, TH

Compounds for genes affiliated with Olivopontocerebellar Atrophy

About this section
Sources:
46Novoseek, 30IUPHAR, 12DrugBank, 52PharmGKB, 25HMDB, 3BitterDB, 62Tocris Bioscience
See all sources

Compounds related to Olivopontocerebellar Atrophy according to GeneCards/GeneDecks:

(show top 50)    (show all 142)
idCompoundScoreTop Affiliating Genes
1ibotenic acid469.9CHAT, TH, SLC6A3
2d amphetamine469.8SLC6A3, TH, TSPO
3gamma-hydroxybutyrate469.8TSPO, GABBR1, GLUD1
4carbidopa46 3010.7TH, NPPA, SLC6A3
56-hydroxydopamine469.7RPS27A, SLC6A3, CHAT, TH
6baclofen46 1210.6SLC6A3, GABBR1, TSPO
7rotenone469.6SLC6A3, RPS27A, TSPO, TH
8mptp469.6TSPO, TH, SLC6A3, RPS27A
9opiate469.5SLC6A3, GABBR1, TSPO, TH
10methamphetamine46 52 1211.4MAP2, SLC6A3, CHAT, RPS27A, TH
11spec-t469.4SLC6A3, NPPA, MAPT, TSPO
12quisqualate46 1210.4MAP2, MAPT, CHAT
135-hydroxytryptamine469.4CHAT, GABBR1, SLC6A3, TH, TSPO
14valproate469.3GLUD1, GABBR1, SLC6A3, MAPT, TH
15morphine46 52 30 1212.3TH, SLC6A3, GABBR1, TSPO, NPPA
16catecholamine469.3CHAT, TH, CBLN3, GABBR1, NPPA
17glycerol46 25 1211.2NPPA, MAPT, TSPO, RPS27A, GLUD1
18valine469.2GLUD1, SLC6A3, MAPT, RPS27A, TSPO
19formaldehyde46 2510.1MAPT, RPS27A, CHAT, TH, MBP
20haloperidol46 52 30 3 1213.1NPPA, GLUD1, TSPO, CHAT, SLC6A3, TH
21sodium dodecylsulfate469.1NPPA, RPS27A, MAPT, GLUD1, MBP
22corticosterone46 62 2511.0CBLN3, TSPO, TH, MAP2, MBP
23nicotine46 30 52 1212.0MAPT, TH, CHAT, TSPO, SLC6A3, MAP2
24polyacrylamide468.8HAAO, MAP1B, GLUD1, ATXN2, ATXN7
25cyclosporin a46 30 6210.7GLUD1, NPPA, TSPO, MBP, MAPT, RPS27A
26cocaine46 129.6GABBR1, MAP2, TSPO, MBP, SLC6A3, CHAT
27epinephrine46 25 1210.6TH, CBLN3, RPS27A, NPPA, MBP
28kainate46 309.6TH, CHAT, TSPO, MAP2, MBP, GABBR1
29lactate468.6MBP, GLUD1, MAPT, MAP2, RPS27A, CHAT
30silver468.6MAPT, CHAT, MAP1B, MAP2, RPS27A, MBP
31testosterone46 62 25 1211.6RPS27A, MAP2, CHAT, MAPT, TSPO, NPPA
32choline46 25 1210.5MAPT, GLUD1, MBP, TH, CHAT, MAP2
33creatinine468.4RPS27A, MAPT, GLUD1, MBP, NPPA, SLC6A3
34alanine468.3GLUD1, MAPT, RPS27A, CHAT, TH, MBP
35aspartate468.3TH, MBP, CHAT, RPS27A, SLC6A3, GABBR1
36forskolin46 52 1210.3GABBR1, TH, CHAT, DYT10, NPPA, MBP
37glutamine468.3GLUD1, RPS27A, TH, ATXN1, ATXN7, ATXN2
38arginine468.3TSPO, RPS27A, MAPT, GLUD1, NPPA, MBP
39paraffin468.2MAP1B, MAP2, MAPT, MBP, RPS27A, TH
40cyclic amp46 259.2NPPA, GABBR1, TH, CHAT, DYT10, MAP2
41estrogen468.2TH, MAP2, MAPT, TSPO, CHAT, MBP
42dopamine46 30 25 1211.2NPPA, SLC6A3, MAPT, TSPO, RPS27A, MAP2
43acetylcholine46 52 30 25 1212.1SLC6A3, MBP, GABBR1, TH, GLUD1, MAPT
44norepinephrine46 25 129.9CBLN3, TSPO, MAP2, SLC6A3, MBP, GABBR1
45adenylate467.7TH, MAP2, MBP, RPS27A, DYT10, GABBR1
46gaba467.6TSPO, CHAT, TH, RPS27A, MAP2, SLC6A3
47threonine467.5MBP, RPS27A, MAP2, DYT10, MAPT, CHAT
48h2o2467.4SLC6A3, MBP, GLUD1, TH, TSPO, RPS27A
49glutamate466.9GABBR1, SLC6A3, MBP, GLUD1, DYT10, MAPT
50nmda46 307.8GLUD1, SLC6A3, CHAT, TSPO, DYT10, RPS27A

GO Terms for genes affiliated with Olivopontocerebellar Atrophy

About this section
Sources:
17Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1nuclear peripheryGO:0343999.6MAPT, MAP2
2microtubule associated complexGO:0058759.2MAP2, MAP1B, MAPT
3axonGO:0304249.2CHAT, MAPT, SLC6A3
4neuronal cell bodyGO:0430259.0CHAT, MAP2, MBP, SLC6A3
5cytosolGO:0058297.9TH, GNAI2, CHAT, RPS27A, MAP1B, MAPT
6cytoplasmGO:0057377.1SLC6A3, TH, ATXN1, ATXN7, ATXN2, GNAI2

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of insulin-like growth factor receptor signaling pathwayGO:04356910.3ATXN7, ATXN1
2negative regulation of phosphorylationGO:04232610.2ATXN1, ATXN7
3gamma-aminobutyric acid signaling pathwayGO:00721410.0GNAI2, GABBR1
4dopamine biosynthetic processGO:04241610.0TH, SLC6A3
5negative regulation of adenylate cyclase activityGO:0071949.9GABBR1, GNAI2
6neurotransmitter biosynthetic processGO:0421369.9SLC6A3, CHAT, TH
7cell deathGO:0082199.8ATXN1, ATXN7, ATXN2, SLC6A3
8negative regulation of intracellular transportGO:0323879.7MAPT, MAP1B
9mitochondrion transport along microtubuleGO:0474979.7MAPT, MAP1B
10axon extensionGO:0486759.6MAPT, MAP1B
11positive regulation of axon extensionGO:0457739.6MAPT, MAP1B
12microtubule bundle formationGO:0015789.5MAP2, MAP1B
13cellular nitrogen compound metabolic processGO:0346419.4GLUD1, TH, HAAO
14response to zinc ionGO:0100439.4TH, HAAO
15synaptic transmissionGO:0072688.9SLC6A3, GNAI2, CHAT, TSPO, GABBR1, MBP

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

idNameGO IDScoreTop Affiliating Genes
1dopamine bindingGO:0352409.7TH, SLC6A3
2ferrous iron bindingGO:0081989.4TH, HAAO
3microtubule bindingGO:0080179.1MAPT, MAP1B, MAP2
4protein bindingGO:0055156.6SLC6A3, TH, ATXN1, ATXN7, ATXN2, GNAI2

Products for genes affiliated with Olivopontocerebellar Atrophy

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Olivopontocerebellar Atrophy

About this section
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