OPCA
MCID: OLV001
MIFTS: 81

Olivopontocerebellar Atrophy (OPCA) malady

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

Summaries for Olivopontocerebellar Atrophy

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OMIM:46 The autosomal dominant cerebellar degenerative disorders are generally referred to as 'spinocerebellar ataxias,' (SCAs)... (164400) more...

MalaCards based summary: Olivopontocerebellar Atrophy, also known as spinocerebellar ataxia type 2, is related to striatonigral degeneration and spinocerebellar ataxia type 7, 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 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 cerebellum, eye and brain, and related mouse phenotypes are muscle and endocrine/exocrine gland.

Disease Ontology:9 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.

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).

NIH Rare Diseases:42 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

NINDS:43 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 ? the... more...

Descriptions from OMIM:46 183090,164500

GeneReviews summary for sca1

GeneReviews summary for sca2

Aliases & Classifications for Olivopontocerebellar Atrophy

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Sources:
9Disease Ontology, 10diseasecard, 20GeneReviews, 42NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 43NINDS, 46OMIM, 44Novoseek, 48Orphanet, 61UMLS, 56SNOMED-CT, 34MeSH, 39NCIt, 35MESH via Orphanet, 27ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Olivopontocerebellar Atrophy, Aliases & Descriptions:

Name: Olivopontocerebellar Atrophy 9 42 43
Spinocerebellar Ataxia Type 2 20 42 21 23 22 44 48 61
Spinocerebellar Ataxia Type 1 20 42 21 23 22 44 48 61
Spinocerebellar Ataxia 1 9 10 42 46
Spinocerebellar Ataxia 2 9 10 42 46
Sca1 20 42 22 48
Spinocerebellar Degeneration with Slow Eye Movements 42 61
Spinocerebellar Ataxia with Slow Eye Movements 42 61
Olivopontocerebellar Atrophy I 22 61
Olivopontocerebellar Atrophy 2 42 61
Olivopontocerebellar Atrophy 1 42 61
Olivopontocerebellar Atrophies 44 61
Spinocerebellar Atrophy 2 42 61
Spinocerebellar Atrophy 1 42 61
Schut-Haymaker Type Opca 42 61
Wadia Swami Syndrome 42 61
Thomas Syndrome 42 48
Sca 2 20 42
 
Opca4 42 61
Sca2 22 48
Potter Sequence - Cleft Lip/palate - Cardiopathy 48
Olivopontocerebellar Atrophy Holguin Type 42
Olivo-Ponto-Cerebellar Degeneration 61
Spinocerebellar Ataxia Cuban Type 42
Olivopontocerebellar Degeneration 9
Cerebelloparenchymal Disorder 1 42
Olivopontocerebellar Atrophy 4 42
Type 1 Spinocerebellar Ataxia 22
Spinocerebellar Atrophy I 22
Dejerine-Thomas Syndrome 9
Wadia-Swami Syndrome 9
Menzel Type Opca 42
Thomas' Syndrome 9
Opca1 42
Sdsem 42
Opca 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
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


External Ids:

Disease Ontology9 DOID:14784
MeSH34 D009849
NCIt39 C84947
MESH via Orphanet35 C536514
ICD10 via Orphanet27 Q87.8, G11
UMLS via Orphanet62 C2931225, C0752120, C0752121

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 148)
idRelated DiseaseScoreTop Affiliating Genes
1striatonigral degeneration30.9SLC6A3, RPS27A, MAP2
2spinocerebellar ataxia type 730.7ATXN7, ATXN2
3dentatorubral-pallidoluysian atrophy30.7ATXN2, ATXN1
4hereditary ataxia30.7ATXN1, ATXN2, ATXN7
5mood disorder30.5MAP2, TH, SLC6A3, GABBR1
6spinocerebellar ataxia30.5ATXN1, ATXN2
7parkinson's disease30.4TH, RPS27A, MAPT, SLC6A3
8huntington's disease30.4ATXN1, CHAT
9multiple sclerosis30.4MBP, TSPO, GLUD1, MAP2
10dementia30.3CHAT, MAPT, TH, TSPO, RPS27A, SLC6A3
11spinocerebellar degeneration30.0GLUD1, RPS27A, ATXN1, ATXN2
12machado-joseph disease29.8SLC6A3, ATXN7, RPS27A, ATXN2, ATXN1
13multiple system atrophy29.7RPS27A, TSPO, CHAT, ATXN1, MAP2, MAPT
14alzheimer's disease29.3TH, SLC6A3, GLUD1, DYT10, MAPT, MAP1B
15schizophrenia29.0ATXN1, SLC6A3, GABBR1, TH, CHAT, TSPO
16neuronal intranuclear inclusion disease10.6RPS27A
17cerebritis10.5
18ataxia10.5
19cervical dystonia10.5
20cervicitis10.5
21kearns-sayre syndrome10.5ATXN7
22neuronitis10.5
23retinal degeneration10.5
24retinitis10.5
25rem sleep behavior disorder10.4SLC6A3
26neuropathy10.4
27peripheral neuropathy10.4
28spinal muscular atrophy 110.4RPS27A, MAP1B
29adrenoleukodystrophy10.4
30spinal muscular atrophy10.4
31muscular atrophy10.4
32olivopontocerebellar atrophy deafness10.4
33myoclonus10.4
34akinetic mutism10.3MBP
35transient cerebral ischemia10.3MAP2, RPS27A
36dysphagia10.3ATXN1
37primary progressive aphasia10.3RPS27A, MAPT
38inclusion body myositis10.3RPS27A, MAPT
39semantic dementia10.3RPS27A, MAPT
40temporal lobe epilepsy10.3GABBR1, GLUD1, TSPO
41hyperaldosteronism10.3NPPA, TH
42progressive supranuclear palsy10.3MAPT, SLC6A3
43cerebellar ataxia10.3
44rett syndrome10.3CHAT, MAP2, TH
45argyll robertson pupil10.3
46episodic ataxia10.3
47stiff-person syndrome10.3
48generalized dystonia10.3
49restless legs syndrome10.3
50transthyretin amyloidosis10.3

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 by clinical synopsis from OMIM:

164400

Clinical features from OMIM:

183090,164500,164400

Symptoms:

 48 (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 65)
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
10 decreased amplitude of sensory action potentials 9% HP:0007078
11 decreased motor nerve conduction velocity 2% HP:0003431
12 decreased sensory nerve conduction velocity very rare (1%) HP:0003448
13 autosomal dominant inheritance HP:0000006
14 slow saccadic eye movements HP:0000514
15 optic disc pallor HP:0000543
16 supranuclear ophthalmoplegia HP:0000623
17 gaze-evoked nystagmus HP:0000640
18 dysmetric saccades HP:0000641
19 optic atrophy HP:0000648
20 impaired horizontal smooth pursuit HP:0001151
21 muscular hypotonia HP:0001252
22 spasticity HP:0001257
23 dysarthria HP:0001260
24 bulbar palsy HP:0001283
25 areflexia HP:0001284
26 dysmetria HP:0001310
27 hyperreflexia HP:0001347
28 dysphagia HP:0002015
29 limb ataxia HP:0002070
30 abnormality of extrapyramidal motor function HP:0002071
31 chorea HP:0002072
32 progressive cerebellar ataxia HP:0002073
33 dysdiadochokinesis HP:0002075
34 truncal ataxia HP:0002078
35 scanning speech HP:0002168
36 dilated fourth ventricle HP:0002198
37 impaired vibratory sensation HP:0002495
38 spinocerebellar tract degeneration HP:0002503
39 olivopontocerebellar atrophy HP:0002542
40 urinary bladder sphincter dysfunction HP:0002839
41 babinski sign HP:0003487
42 adult onset HP:0003581
43 distal amyotrophy HP:0003693
44 genetic anticipation with paternal anticipation bias HP:0003744
45 dorsal column degeneration HP:0007006
46 cognitive impairment HP:0100543
47 retinitis pigmentosa HP:0000510
48 ophthalmoplegia HP:0000602
49 oculomotor apraxia HP:0000657
50 dementia HP:0000726
51 hyporeflexia HP:0001265
52 myoclonus HP:0001336
53 rigidity HP:0002063
54 bradykinesia HP:0002067
55 postural instability HP:0002172
56 postural tremor HP:0002174
57 action tremor HP:0002345
58 fasciculations HP:0002380
59 genetic anticipation HP:0003743
60 autosomal recessive inheritance HP:0000007
61 abnormality of the eye HP:0000478
62 abnormality of the skeletal system HP:0000924
63 polyneuropathy HP:0001271
64 gait disturbance HP:0001288
65 abnormality of metabolism/homeostasis HP:0001939

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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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

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MalaCards organs/tissues related to Olivopontocerebellar Atrophy:

32
Cerebellum, Eye, Brain, Pons, Spinal cord, Kidney, Cortex, Heart, Skin

Animal Models for Olivopontocerebellar Atrophy or affiliated genes

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MGI Mouse Phenotypes related to Olivopontocerebellar Atrophy:

36
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

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Articles related to Olivopontocerebellar Atrophy:

(show top 50)    (show all 180)
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
Purkinje cells in olivopontocerebellar atrophy and granule cell-type cerebellar degeneration: an immunohistochemical study. (9678515)
1998
9
Olivopontocerebellar atrophy and multiple system atrophy: clinical follow-up of 10 patients studied with PET. (9667610)
1998
10
Neurobehavioral dimensions of olivopontocerebellar atrophy. (9672819)
1998
11
Movement-related cortical potentials and contingent negative variation in olivopontocerebellar atrophy. (9343719)
1997
12
Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I. (8923302)
1996
13
The relationship of multiple system atrophy to sporadic olivopontocerebellar atrophy and other forms of idiopathic late-onset cerebellar atrophy. (8628452)
1996
14
Familial infantile olivopontocerebellar atrophy. (7575842)
1995
15
A comparison of cerebral blood flow and glucose metabolism in olivopontocerebellar atrophy using PET. (7617196)
1995
16
Striatal dihydroxyphenylalanine decarboxylase and tyrosine hydroxylase protein in idiopathic Parkinson's disease and dominantly inherited olivopontocerebellar atrophy. (7885342)
1995
17
Positron emission tomography studies on the dopaminergic system and striatal opioid binding in the olivopontocerebellar atrophy variant of multiple system atrophy. (7755350)
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 Name Type Significance SNP ID Assembly Location
1ATXN2NP_002964.3: p.Gln166(> =33)NT expansionPathogenic
2ATXN1NM_000332.3(ATXN1)NT expansionPathogenicGRCh37Chr 6, 16327918: 16327953

Expression for genes affiliated with Olivopontocerebellar Atrophy

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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

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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 biosynthesis37
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

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Compounds related to Olivopontocerebellar Atrophy according to GeneCards/GeneDecks:

(show top 50)    (show all 142)
idCompoundScoreTop Affiliating Genes
1ibotenic acid449.9CHAT, TH, SLC6A3
2d amphetamine449.8SLC6A3, TH, TSPO
3gamma-hydroxybutyrate449.8TSPO, GABBR1, GLUD1
4carbidopa44 2910.7TH, NPPA, SLC6A3
56-hydroxydopamine449.7RPS27A, SLC6A3, CHAT, TH
6baclofen44 1210.6SLC6A3, GABBR1, TSPO
7rotenone449.6SLC6A3, RPS27A, TSPO, TH
8mptp449.6TSPO, TH, SLC6A3, RPS27A
9opiate449.5SLC6A3, GABBR1, TSPO, TH
10methamphetamine44 50 1211.4MAP2, SLC6A3, CHAT, RPS27A, TH
11spec-t449.4SLC6A3, NPPA, MAPT, TSPO
12quisqualate44 1210.4MAP2, MAPT, CHAT
135-hydroxytryptamine449.4CHAT, GABBR1, SLC6A3, TH, TSPO
14valproate449.3GLUD1, GABBR1, SLC6A3, MAPT, TH
15morphine44 50 29 1212.3TH, SLC6A3, GABBR1, TSPO, NPPA
16catecholamine449.3CHAT, TH, CBLN3, GABBR1, NPPA
17glycerol44 25 1211.2NPPA, MAPT, TSPO, RPS27A, GLUD1
18valine449.2GLUD1, SLC6A3, MAPT, RPS27A, TSPO
19formaldehyde44 2510.1MAPT, RPS27A, CHAT, TH, MBP
20haloperidol44 50 29 3 1213.1NPPA, GLUD1, TSPO, CHAT, SLC6A3, TH
21sodium dodecylsulfate449.1NPPA, RPS27A, MAPT, GLUD1, MBP
22corticosterone44 60 2511.0CBLN3, TSPO, TH, MAP2, MBP
23nicotine44 29 50 1212.0MAPT, TH, CHAT, TSPO, SLC6A3, MAP2
24polyacrylamide448.8HAAO, MAP1B, GLUD1, ATXN2, ATXN7
25cyclosporin a44 29 6010.7GLUD1, NPPA, TSPO, MBP, MAPT, RPS27A
26cocaine44 129.6GABBR1, MAP2, TSPO, MBP, SLC6A3, CHAT
27epinephrine44 25 1210.6TH, CBLN3, RPS27A, NPPA, MBP
28kainate44 299.6TH, CHAT, TSPO, MAP2, MBP, GABBR1
29lactate448.6MBP, GLUD1, MAPT, MAP2, RPS27A, CHAT
30silver448.6MAPT, CHAT, MAP1B, MAP2, RPS27A, MBP
31testosterone44 60 25 1211.6RPS27A, MAP2, CHAT, MAPT, TSPO, NPPA
32choline44 25 1210.5MAPT, GLUD1, MBP, TH, CHAT, MAP2
33creatinine448.4RPS27A, MAPT, GLUD1, MBP, NPPA, SLC6A3
34alanine448.3GLUD1, MAPT, RPS27A, CHAT, TH, MBP
35aspartate448.3TH, MBP, CHAT, RPS27A, SLC6A3, GABBR1
36forskolin44 50 1210.3GABBR1, TH, CHAT, DYT10, NPPA, MBP
37glutamine448.3GLUD1, RPS27A, TH, ATXN1, ATXN7, ATXN2
38arginine448.3TSPO, RPS27A, MAPT, GLUD1, NPPA, MBP
39paraffin448.2MAP1B, MAP2, MAPT, MBP, RPS27A, TH
40cyclic amp44 259.2NPPA, GABBR1, TH, CHAT, DYT10, MAP2
41estrogen448.2TH, MAP2, MAPT, TSPO, CHAT, MBP
42dopamine44 29 25 1211.2NPPA, SLC6A3, MAPT, TSPO, RPS27A, MAP2
43acetylcholine44 50 29 25 1212.1SLC6A3, MBP, GABBR1, TH, GLUD1, MAPT
44norepinephrine44 25 129.9CBLN3, TSPO, MAP2, SLC6A3, MBP, GABBR1
45adenylate447.7TH, MAP2, MBP, RPS27A, DYT10, GABBR1
46gaba447.6TSPO, CHAT, TH, RPS27A, MAP2, SLC6A3
47threonine447.5MBP, RPS27A, MAP2, DYT10, MAPT, CHAT
48h2o2447.4SLC6A3, MBP, GLUD1, TH, TSPO, RPS27A
49glutamate446.9GABBR1, SLC6A3, MBP, GLUD1, DYT10, MAPT
50nmda44 297.8GLUD1, SLC6A3, CHAT, TSPO, DYT10, RPS27A

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: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

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Sources for Olivopontocerebellar Atrophy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet