OPCA
MCID: OLV001
MIFTS: 50

Olivopontocerebellar Atrophy (OPCA)

Categories: Cardiovascular diseases, Fetal diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Olivopontocerebellar Atrophy

MalaCards integrated aliases for Olivopontocerebellar Atrophy:

Name: Olivopontocerebellar Atrophy 12 73 20 53 6 15 37
Olivopontocerebellar Atrophies 54 44 70
Thomas Syndrome 20 58 70
Potter Sequence-Cleft Lip/palate-Cardiopathy Syndrome 58
Spinocerebellar Ataxia Type 2 70
Dejerine-Thomas Syndrome 12
Wadia-Swami Syndrome 12
Thomas' Syndrome 12
Opca 20

Characteristics:

Orphanet epidemiological data:

58
thomas syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile,stillbirth;

Classifications:

Orphanet: 58  
Rare cardiac malformations
Rare renal diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:14784
MeSH 44 D009849
NCIt 50 C84947
SNOMED-CT 67 67761004
MESH via Orphanet 45 C536514
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 71 C2931225
Orphanet 58 ORPHA3316
UMLS 70 C0028968 C0752121 C2931225

Summaries for Olivopontocerebellar Atrophy

GARD : 20 Olivopontocerebellar atrophy (OPCA) is a term used for a progressive condition characterized by the degeneration of nerve cells (neurons) in specific areas of the brain. OPCA can be viewed as a finding of several diseases, and indicates a form of progressive ataxia (abnormal or uncontrolled movements) distinguished by characteristic findings in brain imaging studies and at autopsy (pontine flattening and cerebellar atrophy). It was traditionally divided in hereditary or genetic OPCA and sporadic OPCA. Currently, most of the major forms of hereditary OPCA refer to disorders that overlap with spinocerebellar ataxia (SCA), which is a neurological disorder characterized by ataxia. The sporadic forms are considered now to be a form of multiple system atrophy (MSA). OPCA may also occur in people with prion disorders and inherited metabolic diseases. The main symptom is clumsiness that slowly gets worse. Other symptoms may include problems with balance; speech or swallowing problems; difficulty walking; abnormal eye movements; muscle spasms; and neuropathy. Whether OPCA is inherited (and the inheritance pattern) depends on the underlying cause, if known. There is no cure for OPCA, and management aims to treat symptoms and prevent complications.

MalaCards based summary : Olivopontocerebellar Atrophy, also known as olivopontocerebellar atrophies, is related to spinocerebellar ataxia 1 and spinocerebellar ataxia 2, and has symptoms including myoclonus, ophthalmoplegia and dysdiadochokinesis. An important gene associated with Olivopontocerebellar Atrophy is MAP1B (Microtubule Associated Protein 1B), and among its related pathways/superpathways are Circadian entrainment and Prion disease. The drugs Riluzole and Excitatory Amino Acid Antagonists have been mentioned in the context of this disorder. Affiliated tissues include brain, cerebellum and pons, and related phenotypes are cleft palate and renal hypoplasia/aplasia

Disease Ontology : 12 A neurodegenerative disease 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 : 53 Olivopontocerebellar atrophy (OPCA) is a term that describes the degeneration of neurons in specific areas of the brain – the cerebellum, pons, and inferior olives.  OPCA is present in several neurodegenerative syndromes, including inherited and non-inherited forms of ataxia (such as the hereditary spinocerebellar ataxia known as Machado-Joseph disease) and multiple system atrophy (MSA), with which it is primarily associated: Multiple System Atrophy Information Page OPCA  may also be found in the brains of individuals with prion disorders and inherited metabolic diseases.  The characteristic areas of brain damage that indicate OPCA can be seen by imaging the brain using CT scans or MRI studies.

Wikipedia : 73 Olivopontocerebellar atrophy (OPCA) is the degeneration of neurons in specific areas of the brain - the... more...

Related Diseases for Olivopontocerebellar Atrophy

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

(show top 50) (show all 201)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 1 32.4 CACNA1A ATXN7 ATXN2
2 spinocerebellar ataxia 2 32.0 CACNA1A ATXN7 ATXN2
3 spinocerebellar ataxia 17 31.6 SLC6A3 CACNA1A ATXN7 ATXN2
4 parkinsonism 30.9 SNCA SLC6A3 MAPT
5 striatonigral degeneration 30.6 SNCA SLC6A3 MAP2
6 spinocerebellar degeneration 30.5 GLUD1 ATXN2
7 multiple system atrophy 1 30.5 TSPO TH SNCA SLC6A3 RPS27A MBP
8 corticobasal degeneration 30.4 RPS27A MAPT
9 pure autonomic failure 30.3 TH SNCA
10 speech disorder 30.1 SST SLC6A3 MAPT
11 peripheral nervous system disease 29.9 TH SST SNCA MBP MAPT CHAT
12 pick disease of brain 29.7 SNCA RPS27A MAPT MAP2 MAP1B CHAT
13 motor neuron disease 29.6 SNCA RPS27A MAPT CHAT ATXN2
14 spinocerebellar ataxia 6 29.6 CACNA1A ATXN7 ATXN2
15 autosomal dominant cerebellar ataxia 29.3 SNCA RPS27A MAPT CACNA1A ATXN7 ATXN2
16 choreatic disease 29.1 TH SNCA SLC6A3 CACNA1A ATXN7 ATXN2
17 cerebellar disease 29.0 SNCA MAPT CACNA1A ATXN7 ATXN2
18 supranuclear palsy, progressive, 1 29.0 TH SNCA SLC6A3 RPS27A MAPT CHAT
19 dentatorubral-pallidoluysian atrophy 29.0 TH SNCA CACNA1A ATXN7 ATXN2
20 dystonia 28.9 TH SST SLC6A3 GABBR1 CACNA1A ATXN7
21 machado-joseph disease 28.8 SNCA SLC6A3 RPS27A CACNA1A ATXN7 ATXN2
22 amyotrophic lateral sclerosis 1 28.2 TSPO TH SNCA SLC6A3 RPS27A MAPT
23 parkinson disease, late-onset 27.4 TSPO TH SNCA SLC6A3 RPS27A MBP
24 olivopontocerebellar atrophy deafness 11.6
25 spinocerebellar ataxia 7 11.5
26 spinocerebellar ataxia, x-linked 1 11.3
27 multiple system atrophy, cerebellar type 11.1
28 cerebellar ataxia and albinism 10.9
29 ataxia and polyneuropathy, adult-onset 10.6
30 tremor 10.4
31 cerebral cortical dysplasia 10.4 RPS27A MAPT
32 spinal muscular atrophy type 0 10.4 RPS27A MAPT
33 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 10.3 RPS27A MAPT
34 finger agnosia 10.3 MBP MAPT
35 semantic dementia 10.3 RPS27A MAPT
36 retinal degeneration 10.3
37 neuropathy 10.3
38 cerebellar degeneration 10.3
39 myoclonus 10.3
40 chiari malformation 10.3 MBP MAP2
41 hydrocephalus due to congenital stenosis of aqueduct of sylvius 10.3 TH MBP
42 neonatal hypoxic and ischemic brain injury 10.3 TH MBP
43 pathologic nystagmus 10.3
44 hypotonia 10.3
45 mixed cerebral palsy 10.2 SLC6A3 CRH
46 amphetamine abuse 10.2 TH SLC6A3
47 mild cognitive impairment 10.2 MAPT CHAT
48 adrenoleukodystrophy 10.2
49 muscular atrophy 10.2
50 adrenomyeloneuropathy 10.2

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



Diseases related to Olivopontocerebellar Atrophy

Symptoms & Phenotypes for Olivopontocerebellar Atrophy

Human phenotypes related to Olivopontocerebellar Atrophy:

58 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cleft palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000175
2 renal hypoplasia/aplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008678
3 cleft upper lip 58 31 hallmark (90%) Very frequent (99-80%) HP:0000204
4 multicystic kidney dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000003
5 oligohydramnios 58 31 hallmark (90%) Very frequent (99-80%) HP:0001562
6 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
7 hypoplastic left heart 58 31 frequent (33%) Frequent (79-30%) HP:0004383
8 dolichocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000268
9 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
10 high forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000348
11 malformation of the heart and great vessels 58 Very frequent (99-80%)

UMLS symptoms related to Olivopontocerebellar Atrophy:


myoclonus; ophthalmoplegia; dysdiadochokinesis; bradykinesia; muscle rigidity; muscle spasticity; cerebellar ataxia

MGI Mouse Phenotypes related to Olivopontocerebellar Atrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.36 ATXN2 ATXN7 CACNA1A CBLN3 CHAT CRH
2 growth/size/body region MP:0005378 10.31 ATXN2 ATXN7 CACNA1A CHAT CRH GABBR1
3 homeostasis/metabolism MP:0005376 10.24 ATXN2 CACNA1A CBLN3 CHAT CRH GABBR1
4 mortality/aging MP:0010768 10.1 ATXN2 ATXN7 CACNA1A CHAT GABBR1 MAP1B
5 endocrine/exocrine gland MP:0005379 10.09 ATXN2 CACNA1A CRH GLUD1 MAP2 SLC6A3
6 nervous system MP:0003631 10.03 ATXN2 ATXN7 CACNA1A CBLN3 CHAT CRH
7 integument MP:0010771 9.92 CACNA1A CRH GABBR1 MAP1B MAPT SLC6A3
8 normal MP:0002873 9.7 CACNA1A CBLN3 CHAT CRH MAPT MBP
9 reproductive system MP:0005389 9.36 ATXN2 ATXN7 CACNA1A CHAT GABBR1 MAP1B

Drugs & Therapeutics for Olivopontocerebellar Atrophy

Drugs for Olivopontocerebellar Atrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Riluzole Approved, Investigational Phase 3 1744-22-5 5070
2 Excitatory Amino Acid Antagonists Phase 3
3 Neuroprotective Agents Phase 3
4 Protective Agents Phase 3
5 Anticonvulsants Phase 3
6 Neurotransmitter Agents Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Multicenter, Randomized, Double Blind, Placebo Controlled Clinical Trial With Riluzole in Spinocerebellar Ataxia Type 2 Unknown status NCT03347344 Phase 3 Riluzole;Placebo
2 Integrated Functional Evaluation of the Cerebellum Recruiting NCT04288128
3 Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Olivopontocerebellar Atrophy

Cochrane evidence based reviews: olivopontocerebellar atrophies

Genetic Tests for Olivopontocerebellar Atrophy

Anatomical Context for Olivopontocerebellar Atrophy

MalaCards organs/tissues related to Olivopontocerebellar Atrophy:

40
Brain, Cerebellum, Pons, Eye, Heart, Cortex, Kidney

Publications for Olivopontocerebellar Atrophy

Articles related to Olivopontocerebellar Atrophy:

(show top 50) (show all 546)
# Title Authors PMID Year
1
Alpha-synuclein binding to rab3a in multiple system atrophy. 61 54
15854772 2005
2
Spinocerebellar ataxia 2 (SCA2): morphometric analyses in 11 autopsies. 61 54
10090679 1999
3
The hereditary ataxias. 54 61
9630233 1998
4
Benzodiazepine receptor binding in the cerebellum in multiple system atrophy and olivopontocerebellar atrophy studied with positron emission tomography. 54 61
8615166 1996
5
Cerebellar glutamate metabolizing enzymes in spinocerebellar ataxia type I. 61 54
7914669 1994
6
Olivopontocerebellar atrophy with retinal degeneration. An electroretinographic and histopathologic investigation. 54 61
8433819 1993
7
Immunohistochemical expression of microtubule-associated protein 5 (MAP5) in glial cells in multiple system atrophy. 61 54
1517758 1992
8
The Use of FDG PET Parametric Imaging in the Diagnosis of Olivopontocerebellar Atrophy. 61
32657870 2020
9
A clinical report of the massive CAG repeat expansion in spinocerebellar ataxia type 2: Severe onset in a Mexican child and review previous cases. 61
32870233 2020
10
Genes to treat excitotoxicity ameliorate the symptoms of the disease in mice models of multiple system atrophy. 61
32065333 2020
11
Neuroimaging Biomarkers in SCA2 Gene Carriers. 61
32033120 2020
12
White matter DNA methylation profiling reveals deregulation of HIP1, LMAN2, MOBP, and other loci in multiple system atrophy. 61
31535203 2020
13
Supratentorial and Infratentorial Lesions in Spinocerebellar Ataxia Type 3. 61
32194495 2020
14
Immunohistochemical and Molecular Investigations Show Alteration in the Inflammatory Profile of Multiple System Atrophy Brain. 61
29850876 2018
15
Multiple system atrophy: Building a global community - 30years of advocacy efforts. 61
29269241 2018
16
Recent advances in neuropathology, biomarkers and therapeutic approach of multiple system atrophy. 61
28860330 2018
17
Multiple System Atrophy: An Oligodendroglioneural Synucleinopathy1. 61
28984582 2018
18
Neuroimaging Applications in Chronic Ataxias. 61
30473193 2018
19
[Multisemic atrophy: a description of the clinical case of olivopontocerebellar atrophy against the background of stenosing atherosclerotic vascular lesions]. 61
29783233 2018
20
Role of Corticotropin-Releasing Factor in Cerebellar Motor Control and Ataxia. 61
28844644 2017
21
PET and MRI detection of early and progressive neurodegeneration in spinocerebellar ataxia type 36. 61
27862279 2017
22
Multiple system atrophy: clinicopathological characteristics in Japanese patients. 61
28496050 2017
23
Coenzyme Q10 Levels Are Decreased in the Cerebellum of Multiple-System Atrophy Patients. 61
26894433 2016
24
[Anesthetic Management of a Patient with Multiple System Atrophy--A Case Report]. 61
26790328 2015
25
Failure of Neuroprotection Despite Microglial Suppression by Delayed-Start Myeloperoxidase Inhibition in a Model of Advanced Multiple System Atrophy: Clinical Implications. 61
26194617 2015
26
Non-progressive cerebellar ataxia and previous undetermined acute cerebellar injury: a mysterious clinical condition. 61
26291991 2015
27
[A pedigree with olivopontocerebellar atrophy]. 61
26252112 2015
28
Optical Management Using Monovision and Yoked Prism for Acquired Strabismus and Nystagmus Secondary to a Neurodegenerative Disease. 61
27928348 2015
29
May-Thurner syndrome: High output cardiac failure as a result of iatrogenic iliac fistula. 61
25789305 2015
30
GABAergic Pharmacotherapy in the Treatment of Motor Disorders of the Central Nervous System. 61
26365142 2015
31
Neuropathology of multiple system atrophy: new thoughts about pathogenesis. 61
25297524 2014
32
Spinocerebellar Ataxia Type 36 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 61
25101480 2014
33
Neuropathologic changes of multiple system atrophy and diffuse Lewy body disease. 61
24963680 2014
34
An update on the cerebellar subtype of multiple system atrophy. 61
26331038 2014
35
[Case of olivopontocerebellar atrophy]. 61
24617241 2013
36
An autopsied case of progressive supranuclear palsy presenting with cerebellar ataxia and severe cerebellar involvement. 61
23320789 2013
37
Corticobasal degeneration with olivopontocerebellar atrophy and TDP-43 pathology: an unusual clinicopathologic variant of CBD. 61
23371366 2013
38
Sirenomelia: a new type, showing VACTERL association with Thomas syndrome and a review of literature. 61
23526679 2013
39
Peripheral nerve involvement in hereditary cerebellar and multisystem degenerative disorders. 61
23931821 2013
40
Myeloperoxidase inhibition ameliorates multiple system atrophy-like degeneration in a transgenic mouse model. 61
22161470 2012
41
[Congenital glycosylation disorders: a study of two patients]. 61
22115835 2012
42
Generation of induced pluripotent stem cells from skin fibroblasts of a patient with olivopontocerebellar atrophy. 61
22301348 2012
43
Magnetic resonance and nuclear medicine imaging in ataxias. 61
21827882 2012
44
Spinocerebellar ataxia type 1. 61
21827903 2012
45
Distribution and pattern of pathology in subjects with familial or sporadic late-onset cerebellar ataxia as assessed by p62/sequestosome immunohistochemistry. 61
21544590 2011
46
[Multiple system atrophy - synuclein and neuronal degeneration]. 61
22277386 2011
47
Bilateral renal hypoplasia and cystic dysplasia: a new phenotype of Thomas syndrome or a new syndrome? 61
21663390 2011
48
Long-term evolution of eight Spanish patients with CDG type Ia: typical and atypical manifestations. 61
18948042 2009
49
[Mechanism of neuronal degeneration of multiple system atrophy]. 61
19803404 2009
50
Challenge-oriented gait and balance training in sporadic olivopontocerebellar atrophy: a case study. 61
19809395 2009

Variations for Olivopontocerebellar Atrophy

Expression for Olivopontocerebellar Atrophy

Search GEO for disease gene expression data for Olivopontocerebellar Atrophy.

Pathways for Olivopontocerebellar Atrophy

GO Terms for Olivopontocerebellar Atrophy

Cellular components related to Olivopontocerebellar Atrophy according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.17 TH SNCA SLC6A3 RPS27A MAPT MAP2
2 cell projection GO:0042995 9.99 MBP MAPT MAP2 MAP1B GABBR1 CACNA1A
3 dendrite GO:0030425 9.85 TH MAPT MAP2 MAP1B GABBR1
4 neuron projection GO:0043005 9.77 TH SLC6A3 MAPT MAP2 CHAT
5 axon GO:0030424 9.65 TH SNCA SLC6A3 MAPT MAP1B
6 synapse GO:0045202 9.61 SST SNCA MBP MAP1B GABBR1 CRH
7 somatodendritic compartment GO:0036477 9.49 MAPT MAP1B
8 varicosity GO:0043196 9.48 MAP1B CRH
9 presynapse GO:0098793 9.46 SNCA GABBR1 CHAT CACNA1A
10 basal dendrite GO:0097441 9.43 MAP2 MAP1B
11 main axon GO:0044304 9.4 MAPT MAP2
12 neuronal cell body GO:0043025 9.32 TH SST SNCA SLC6A3 MBP MAPT

Biological processes related to Olivopontocerebellar Atrophy according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 response to ethanol GO:0045471 9.77 TH SLC6A3 CRH
2 chemical synaptic transmission GO:0007268 9.72 SST SNCA MBP CRH CACNA1A
3 microtubule cytoskeleton organization GO:0000226 9.67 MAPT MAP2 MAP1B ATXN7
4 stress granule assembly GO:0034063 9.6 MAPT ATXN2
5 response to corticosterone GO:0051412 9.58 TH CRH
6 central nervous system neuron development GO:0021954 9.58 MAPT MAP2
7 response to cocaine GO:0042220 9.58 SNCA SLC6A3 CRH
8 response to pain GO:0048265 9.57 TSPO CRH
9 supramolecular fiber organization GO:0097435 9.56 SNCA MAPT
10 negative regulation of microtubule polymerization GO:0031115 9.55 SNCA MAP2
11 regulation of microtubule polymerization GO:0031113 9.54 MAPT MAP2
12 hyaloid vascular plexus regression GO:1990384 9.52 TH SLC6A3
13 peripheral nervous system axon regeneration GO:0014012 9.51 TSPO MAP1B
14 dopamine uptake involved in synaptic transmission GO:0051583 9.49 SNCA SLC6A3
15 response to insecticide GO:0017085 9.48 TH MAP1B
16 response to ether GO:0045472 9.46 TH CRH
17 hormone-mediated apoptotic signaling pathway GO:0008628 9.43 SST CRH
18 neurotransmitter biosynthetic process GO:0042136 9.43 TH SLC6A3 CHAT
19 synaptic transmission, dopaminergic GO:0001963 9.33 TH SNCA CRH
20 response to drug GO:0042493 9.17 TSPO TH SST SNCA SLC6A3 MAP1B
21 dopamine biosynthetic process GO:0042416 9.13 TH SNCA SLC6A3

Molecular functions related to Olivopontocerebellar Atrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.58 TSPO TH SST SNCA SLC6A3 RPS27A
2 microtubule binding GO:0008017 9.46 SNCA MAPT MAP2 MAP1B
3 dopamine binding GO:0035240 8.96 TH SLC6A3

Sources for Olivopontocerebellar Atrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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