OPCA
MCID: OLV001
MIFTS: 53

Olivopontocerebellar Atrophy (OPCA)

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

Aliases & Classifications for Olivopontocerebellar Atrophy

MalaCards integrated aliases for Olivopontocerebellar Atrophy:

Name: Olivopontocerebellar Atrophy 12 76 53 54 15 38
Olivopontocerebellar Atrophies 55 44 73
Thomas Syndrome 53 59 73
Potter Sequence-Cleft Lip/palate-Cardiopathy Syndrome 59
Spinocerebellar Ataxia Type 2 73
Dejerine-Thomas Syndrome 12
Wadia-Swami Syndrome 12
Thomas' Syndrome 12
Opca 53

Characteristics:

Orphanet epidemiological data:

59
thomas syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile,stillbirth;

Classifications:



External Ids:

Disease Ontology 12 DOID:14784
MeSH 44 D009849
NCIt 50 C84947
SNOMED-CT 68 37250002 67761004
Orphanet 59 ORPHA3316
MESH via Orphanet 45 C536514
UMLS via Orphanet 74 C2931225
ICD10 via Orphanet 34 Q87.8

Summaries for Olivopontocerebellar Atrophy

NIH Rare Diseases : 53 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 inheritedmetabolic 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 2 and spinocerebellar ataxia 7, and has symptoms including myoclonus, dysdiadochokinesis and bradykinesia. An important gene associated with Olivopontocerebellar Atrophy is MAP1B (Microtubule Associated Protein 1B), and among its related pathways/superpathways are Chks in Checkpoint Regulation and Neuroscience. Affiliated tissues include brain, cerebellum and pons, and related phenotypes are hypertelorism and cleft palate

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 : 54 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 : 76 Olivopontocerebellar atrophy (OPCA) is the degeneration of neurons in specific areas of the brain �??... more...

Related Diseases for Olivopontocerebellar Atrophy

Diseases in the Olivopontocerebellar Atrophy family:

Olivopontocerebellar Atrophy V Olivopontocerebellar Atrophy Ii, Autosomal Recessive

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

(show top 50) (show all 65)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 2 32.5 ATXN2 ATXN7
2 spinocerebellar ataxia 7 32.4 ATXN2 ATXN7
3 multiple system atrophy 1 32.4 MBP SNCA
4 dementia 30.1 ATXN2 CHAT SNCA
5 striatonigral degeneration 30.1 ATP2B3 MAP2 SNCA
6 autosomal dominant cerebellar ataxia 29.8 ATXN2 ATXN7 SNCA
7 aceruloplasminemia 29.7 ATP2B3 ATXN2 ATXN7 SNCA
8 machado-joseph disease 29.6 ATXN2 ATXN7 SNCA
9 alzheimer disease 29.5 CHAT CRH MAP1B MAP2 SNCA
10 amyotrophic lateral sclerosis 1 29.4 ATXN2 CHAT MAP2 SNCA
11 olivopontocerebellar atrophy deafness 12.5
12 spinocerebellar ataxia 1 12.3
13 olivopontocerebellar atrophy v 12.2
14 olivopontocerebellar atrophy ii, autosomal recessive 12.2
15 spinocerebellar ataxia, x-linked 1 11.3
16 multiple system atrophy, cerebellar type 11.2
17 retinal degeneration 10.3
18 peripheral nervous system disease 10.3
19 neuropathy 10.3
20 adrenoleukodystrophy 10.2
21 spinal muscular atrophy 10.2
22 muscular atrophy 10.2
23 myoclonus 10.2
24 cerebellar ataxia, early-onset, with retained tendon reflexes 10.1
25 macular degeneration, age-related, 1 10.1
26 neuronal migration disorders 10.1 MAP1B MAP2
27 chiari malformation 10.1 MAP2 MBP
28 occlusion precerebral artery 10.1 MAP2 MBP
29 carotid artery occlusion 10.1 MAP2 MBP
30 cerebellar disease 10.1 ATP2B3 ATXN7
31 optic nerve glioma 10.1 MAP2 MBP
32 spinocerebellar ataxia 12 10.0 ATXN2 ATXN7
33 dentatorubral-pallidoluysian atrophy 10.0 ATXN2 ATXN7
34 spinocerebellar ataxia 6 10.0
35 insulin-like growth factor i 10.0
36 muscular dystrophy, duchenne type 10.0
37 myopathy due to myoadenylate deaminase deficiency 10.0
38 cataract 10.0
39 motor neuron disease 10.0
40 respiratory failure 10.0
41 lateral sclerosis 10.0
42 motor peripheral neuropathy 10.0
43 blepharospasm 10.0
44 speech disorder 10.0
45 muscular dystrophy 10.0
46 adrenomyeloneuropathy 10.0
47 cerebellar degeneration 10.0
48 corticobasal degeneration 10.0
49 dementia - subcortical 10.0
50 hereditary ataxia 9.9 ATXN2 ATXN7

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:

59 32 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
2 cleft palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000175
3 dolichocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000268
4 hypoplastic left heart 59 32 frequent (33%) Frequent (79-30%) HP:0004383
5 renal hypoplasia/aplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008678
6 multicystic kidney dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000003
7 downslanted palpebral fissures 59 32 frequent (33%) Frequent (79-30%) HP:0000494
8 high forehead 59 32 frequent (33%) Frequent (79-30%) HP:0000348
9 oligohydramnios 59 32 hallmark (90%) Very frequent (99-80%) HP:0001562
10 cleft upper lip 59 32 hallmark (90%) Very frequent (99-80%) HP:0000204
11 malformation of the heart and great vessels 59 Very frequent (99-80%)

UMLS symptoms related to Olivopontocerebellar Atrophy:


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

MGI Mouse Phenotypes related to Olivopontocerebellar Atrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.92 ATXN2 ATXN7 CHAT CRH MAP1B MAP2
2 growth/size/body region MP:0005378 9.86 ATXN2 ATXN7 CHAT CRH MAP1B MAP2
3 mortality/aging MP:0010768 9.7 ATXN2 ATXN7 CHAT MAP1B MAP2 MBP
4 nervous system MP:0003631 9.56 ATXN2 ATXN7 CHAT CRH MAP1B MAP2
5 reproductive system MP:0005389 9.17 ATXN2 ATXN7 CHAT MAP1B MAP2 MBP

Drugs & Therapeutics for Olivopontocerebellar Atrophy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Fipamezole in Neurogenic Orthostatic Hypotension Unknown status NCT00758849 Phase 2 Placebo;Fipamezole
2 Rare Disease Patient Registry & Natural History Study - 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:

41
Brain, Cerebellum, Pons, Eye, Heart, Cortex, Kidney

Publications for Olivopontocerebellar Atrophy

Articles related to Olivopontocerebellar Atrophy:

(show top 50) (show all 192)
# Title Authors Year
1
Corticobasal degeneration with olivopontocerebellar atrophy and TDP-43 pathology: an unusual clinicopathologic variant of CBD. ( 23371366 )
2013
2
Generation of induced pluripotent stem cells from skin fibroblasts of a patient with olivopontocerebellar atrophy. ( 22301348 )
2012
3
Challenge-oriented gait and balance training in sporadic olivopontocerebellar atrophy: a case study. ( 19809395 )
2009
4
Spinal muscular atrophy combined with sporadic olivopontocerebellar atrophy. ( 18667265 )
2008
5
The efficacy of combined estrogen and buspirone treatment in olivopontocerebellar atrophy. ( 18466925 )
2008
6
Olivopontocerebellar atrophy: toward a better nosological definition. ( 16874757 )
2006
7
An autopsy case of early (&amp;quot;minimal change&amp;quot;) olivopontocerebellar atrophy (multiple system atrophy-cerebellar). ( 15971057 )
2005
8
Autonomic nervous evaluation in the early stages of olivopontocerebellar atrophy. ( 16289940 )
2005
9
Cognitive affective psychosis syndrome in a patient with sporadic olivopontocerebellar atrophy. ( 15939990 )
2005
10
X-linked adrenoleukodystrophy with olivopontocerebellar atrophy. ( 16241983 )
2005
11
Olivopontocerebellar atrophy in two adult cats, sporadic cases or new genetic entity. ( 14715964 )
2004
12
Olivopontocerebellar atrophy presenting with stridor. ( 14651147 )
2003
13
Motor learning processes in a movement-scaling task in olivopontocerebellar atrophy and Parkinson's disease. ( 12898095 )
2003
14
Unusual association of sporadic olivopontocerebellar atrophy and motor neuron disease. ( 12522682 )
2002
15
Patterns of neuropsychological performance in multiple system atrophy compared to sporadic and hereditary olivopontocerebellar atrophy. ( 12464189 )
2002
16
Peculiar aspects of reading and writing performances in patients with olivopontocerebellar atrophy. ( 12027365 )
2002
17
Selective loss of expression of glutamate GluR2/R3 receptor subunits in cerebellar tissue from a patient with olivopontocerebellar atrophy. ( 12083339 )
2002
18
Associations between a cerebellar motor dysfunction scale and movement initiation and completion in olivopontocerebellar atrophy. ( 11924009 )
2001
19
Oxidative injury is present in Purkinje cells in patients with olivopontocerebellar atrophy. ( 10831770 )
2000
20
Preclinical impairment of the striatal dopamine transporter system in sporadic olivopontocerebellar atrophy: studied with [(123)I]beta-CIT and SPECT. ( 10601804 )
2000
21
Evolution of sporadic olivopontocerebellar atrophy into multiple system atrophy. ( 10953186 )
2000
22
Olivopontocerebellar atrophy: paraneoplastic syndrome of brain tumour? ( 10886320 )
2000
23
Early onset cerebellar ataxia with retained tendon reflexes (EOCA) and olivopontocerebellar atrophy (OPCA): a computed tomographic study. ( 10625898 )
1999
24
Cerebellar activation during ataxic gait in olivopontocerebellar atrophy: a PET study. ( 10589796 )
1999
25
Olivopontocerebellar atrophy and peripheral neuropathy--Wadia type. ( 10999111 )
1999
26
Amantadine hydrochloride treatment in olivopontocerebellar atrophy: a long-term follow-up study. ( 10343152 )
1999
27
A case of nocturnal polyuria in olivopontocerebellar atrophy. ( 10459712 )
1999
28
A case of spinocerebellar ataxia type 6 mimicking olivopontocerebellar atrophy. ( 10450843 )
1999
29
Disappearance of rhythmic involuntary movements during sleep in a case of olivopontocerebellar atrophy. ( 10459714 )
1999
30
Non-familial olivopontocerebellar atrophy combined with late onset Alzheimer's disease: a clinico-pathological case report. ( 9543332 )
1998
31
Non-familial olivopontocerebellar atrophy combined with Alzheimer's disease. ( 9849805 )
1998
32
Congenital olivopontocerebellar atrophy: report of two siblings with paleo- and neocerebellar atrophy. ( 9796994 )
1998
33
Vecuronium dose requirement and pupillary response in a patient with olivopontocerebellar atrophy (OPCA). ( 9836034 )
1998
34
No association between apolipoprotein E alleles and olivopontocerebellar atrophy. ( 9667788 )
1998
35
Olivopontocerebellar atrophy and multiple system atrophy: clinical follow-up of 10 patients studied with PET. ( 9667610 )
1998
36
Purkinje cells in olivopontocerebellar atrophy and granule cell-type cerebellar degeneration: an immunohistochemical study. ( 9678515 )
1998
37
Neurobehavioral dimensions of olivopontocerebellar atrophy. ( 9672819 )
1998
38
Cerebellar ataxia, dementia, pyramidal signs, cortical cataract of the posterior pole and a raised IgG index in a patient with a sporadic form of olivopontocerebellar atrophy. ( 9213052 )
1997
39
Analysis of single-joint rapid movements in patients with sporadic olivopontocerebellar atrophy. ( 9349672 )
1997
40
Olivopontocerebellar atrophy and Friedreich's ataxia: neuropsychological consequences of bilateral versus unilateral cerebellar lesions. ( 9378599 )
1997
41
P300 and cerebral blood flow before and after TRH in olivopontocerebellar atrophy. ( 9522261 )
1997
42
Case of the month: Familial olivopontocerebellar atrophy. Autopsy Committee of the College of American Pathologists. ( 9531223 )
1997
43
Movement-related cortical potentials and contingent negative variation in olivopontocerebellar atrophy. ( 9343719 )
1997
44
MRI in sporadic olivopontocerebellar atrophy and striatonigral degeneration. ( 9065575 )
1997
45
Early onset cerebellar ataxia with retained tendon reflexes comparison with Friedreich's ataxia and olivopontocerebellar atrophy : an evoked potential study. ( 29509152 )
1997
46
Differences between multiple system atrophy and olivopontocerebellar atrophy. ( 9007105 )
1996
47
Benzodiazepine receptor binding in the cerebellum in multiple system atrophy and olivopontocerebellar atrophy studied with positron emission tomography. ( 8615166 )
1996
48
Early vocal cord paralysis in olivopontocerebellar atrophy. ( 8892074 )
1996
49
Clinical and radiological features of juvenile onset olivopontocerebellar atrophy. ( 8836589 )
1996
50
Tracheostomy can make a difference in recurrent respiratory failure secondary to olivopontocerebellar atrophy. ( 8830454 )
1996

Variations for Olivopontocerebellar Atrophy

Expression for Olivopontocerebellar Atrophy

Search GEO for disease gene expression data for Olivopontocerebellar Atrophy.

Pathways for Olivopontocerebellar Atrophy

Pathways related to Olivopontocerebellar Atrophy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.04 ATXN2 ATXN7 SNCA
2 11.33 MAP2 MBP SNCA
3 11.08 ATXN2 SNCA
4 10.85 CHAT MAP2

GO Terms for Olivopontocerebellar Atrophy

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

# Name GO ID Score Top Affiliating Genes
1 presynapse GO:0098793 9.33 ATP2B3 CHAT SNCA
2 microtubule associated complex GO:0005875 9.26 MAP1B MAP2
3 neuronal cell body GO:0043025 9.02 CRH MAP1B MAP2 MBP SNCA
4 basal dendrite GO:0097441 8.96 MAP1B MAP2

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

# Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 9.54 CRH MBP SNCA
2 long-term synaptic potentiation GO:0060291 9.43 CRH SNCA
3 response to cocaine GO:0042220 9.4 CRH SNCA
4 dendrite development GO:0016358 9.32 MAP1B MAP2
5 microtubule bundle formation GO:0001578 9.26 MAP1B MAP2
6 synaptic transmission, dopaminergic GO:0001963 9.16 CRH SNCA
7 negative regulation of microtubule polymerization GO:0031115 8.96 MAP2 SNCA
8 microtubule cytoskeleton organization GO:0000226 8.8 ATXN7 MAP1B MAP2

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

# Name GO ID Score Top Affiliating Genes
1 tubulin binding GO:0015631 9.16 MAP1B MAP2
2 microtubule binding GO:0008017 9.13 MAP1B MAP2 SNCA
3 calmodulin binding GO:0005516 8.8 ATP2B3 MAP2 MBP

Sources for Olivopontocerebellar Atrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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