MCID: OLV001
MIFTS: 47

Olivopontocerebellar Atrophy

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

Aliases & Classifications for Olivopontocerebellar Atrophy

MalaCards integrated aliases for Olivopontocerebellar Atrophy:

Name: Olivopontocerebellar Atrophy 12 50 51 14 38
Olivopontocerebellar Atrophies 52 42 69
Thomas Syndrome 50 56 69
Potter Sequence-Cleft Lip/palate-Cardiopathy Syndrome 56
Spinocerebellar Ataxia Type 2 69
Dejerine-Thomas Syndrome 12
Wadia-Swami Syndrome 12
Thomas' Syndrome 12
Opca 50

Characteristics:

Orphanet epidemiological data:

56
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 42 D009849
NCIt 47 C84947
Orphanet 56 ORPHA3316
MESH via Orphanet 43 C536514
UMLS via Orphanet 70 C2931225
ICD10 via Orphanet 34 Q87.8
UMLS 69 C0028968

Summaries for Olivopontocerebellar Atrophy

NIH Rare Diseases : 50 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 the major forms of hereditary opca refers 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. last updated: 1/11/2017

MalaCards based summary : Olivopontocerebellar Atrophy, also known as olivopontocerebellar atrophies, is related to olivopontocerebellar atrophy deafness and spinocerebellar ataxia 1, and has symptoms including high forehead, hypertelorism and cleft palate. 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 behavior/neurological and growth/size/body region

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 : 51 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 : 72 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 67)
id Related Disease Score Top Affiliating Genes
1 olivopontocerebellar atrophy deafness 12.2
2 spinocerebellar ataxia 1 11.8
3 multiple system atrophy 11.3
4 spinocerebellar ataxia 2 11.3
5 spinocerebellar ataxia 7 11.2
6 multiple system atrophy, cerebellar type 10.9
7 spinocerebellar ataxia, x-linked 1 10.9
8 overuse syndrome 10.4 MAP1B MAP2
9 chilaiditi syndrome 10.4 MAP2 MBP
10 internal auditory canal meningioma 10.3 MAP2 MBP
11 myxomatous pattern testicular yolk sac tumor 10.3 MAP2 MBP
12 adams-oliver syndrome 4 10.2 ATXN2 ATXN7
13 hereditary spastic paraplegia 10.2 ATXN2 ATXN7
14 cervical adenomyoma 10.2 MAP2 MBP
15 cerebritis 10.2
16 submandibular adenitis 10.2 ATP2B3 MBP
17 okt4 epitope deficiency 10.1 ATXN2 ATXN7
18 dementia 10.1
19 ataxia 10.1
20 hypolipoproteinemia 10.1 ATP2B3 MBP
21 celiac disease 13 10.1 ATXN2 ATXN7
22 retinitis 10.1
23 neuronitis 10.1
24 retinal degeneration 10.1
25 striatonigral degeneration 10.0
26 neuropathy 10.0
27 schistosoma mansoni infection, susceptibility/ 10.0 ATXN2 ATXN7
28 muscular atrophy 10.0
29 adrenoleukodystrophy 10.0
30 spinal muscular atrophy 10.0
31 myoclonus 10.0
32 carotid body cancer 9.9 CHAT MBP
33 dipetalonemiasis 9.9 ATXN2 ATXN7
34 cerebellar ataxia 9.9
35 posterior uveal melanoma 9.8 ATP2B3 CRH
36 idiopathic interstitial pneumonia 9.8 ATP2B3 ATXN2 ATXN7
37 paraneoplastic syndromes 9.7
38 pick disease 9.7
39 machado-joseph disease 9.7
40 blepharospasm 9.7
41 insulin-like growth factor i 9.7
42 duchenne muscular dystrophy 9.7
43 cataract 9.7
44 speech disorder 9.7
45 motor neuron disease 9.7
46 muscular dystrophy 9.7
47 cerebellar degeneration 9.7
48 respiratory failure 9.7
49 corticobasal degeneration 9.7
50 lateral sclerosis 9.7

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:

56 32 (show all 11)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high forehead 56 32 frequent (33%) Frequent (79-30%) HP:0000348
2 hypertelorism 56 32 frequent (33%) Frequent (79-30%) HP:0000316
3 cleft palate 56 32 hallmark (90%) Very frequent (99-80%) HP:0000175
4 oligohydramnios 56 32 hallmark (90%) Very frequent (99-80%) HP:0001562
5 downslanted palpebral fissures 56 32 frequent (33%) Frequent (79-30%) HP:0000494
6 dolichocephaly 56 32 frequent (33%) Frequent (79-30%) HP:0000268
7 hypoplastic left heart 56 32 frequent (33%) Frequent (79-30%) HP:0004383
8 renal hypoplasia/aplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0008678
9 multicystic kidney dysplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000003
10 cleft upper lip 56 32 hallmark (90%) Very frequent (99-80%) HP:0000204
11 malformation of the heart and great vessels 56 Very frequent (99-80%)

UMLS symptoms related to Olivopontocerebellar Atrophy:


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

MGI Mouse Phenotypes related to Olivopontocerebellar Atrophy:

44
id 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 MAP1B MAP2 MBP SNCA ATXN2 ATXN7

Drugs & Therapeutics for Olivopontocerebellar Atrophy

Interventional clinical trials:


id 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:

39
Brain, Cerebellum, Pons, Eye, Heart, Cortex, Kidney

Publications for Olivopontocerebellar Atrophy

Articles related to Olivopontocerebellar Atrophy:

(show top 50) (show all 182)
id 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
Autonomic nervous evaluation in the early stages of olivopontocerebellar atrophy. ( 16289940 )
2005
8
X-linked adrenoleukodystrophy with olivopontocerebellar atrophy. ( 16241983 )
2005
9
An autopsy case of early ("minimal change") olivopontocerebellar atrophy (multiple system atrophy-cerebellar). ( 15971057 )
2005
10
Cognitive affective psychosis syndrome in a patient with sporadic olivopontocerebellar atrophy. ( 15939990 )
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
Selective loss of expression of glutamate GluR2/R3 receptor subunits in cerebellar tissue from a patient with olivopontocerebellar atrophy. ( 12083339 )
2002
15
Patterns of neuropsychological performance in multiple system atrophy compared to sporadic and hereditary olivopontocerebellar atrophy. ( 12464189 )
2002
16
Unusual association of sporadic olivopontocerebellar atrophy and motor neuron disease. ( 12522682 )
2002
17
Peculiar aspects of reading and writing performances in patients with olivopontocerebellar atrophy. ( 12027365 )
2002
18
Associations between a cerebellar motor dysfunction scale and movement initiation and completion in olivopontocerebellar atrophy. ( 11924009 )
2001
19
Preclinical impairment of the striatal dopamine transporter system in sporadic olivopontocerebellar atrophy: studied with [(123)I]beta-CIT and SPECT. ( 10601804 )
2000
20
Olivopontocerebellar atrophy: paraneoplastic syndrome of brain tumour? ( 10886320 )
2000
21
Evolution of sporadic olivopontocerebellar atrophy into multiple system atrophy. ( 10953186 )
2000
22
Oxidative injury is present in Purkinje cells in patients with olivopontocerebellar atrophy. ( 10831770 )
2000
23
Disappearance of rhythmic involuntary movements during sleep in a case of olivopontocerebellar atrophy. ( 10459714 )
1999
24
Early onset cerebellar ataxia with retained tendon reflexes (EOCA) and olivopontocerebellar atrophy (OPCA): a computed tomographic study. ( 10625898 )
1999
25
Amantadine hydrochloride treatment in olivopontocerebellar atrophy: a long-term follow-up study. ( 10343152 )
1999
26
A case of spinocerebellar ataxia type 6 mimicking olivopontocerebellar atrophy. ( 10450843 )
1999
27
A case of nocturnal polyuria in olivopontocerebellar atrophy. ( 10459712 )
1999
28
Cerebellar activation during ataxic gait in olivopontocerebellar atrophy: a PET study. ( 10589796 )
1999
29
Olivopontocerebellar atrophy and peripheral neuropathy--Wadia type. ( 10999111 )
1999
30
No association between apolipoprotein E alleles and olivopontocerebellar atrophy. ( 9667788 )
1998
31
Congenital olivopontocerebellar atrophy: report of two siblings with paleo- and neocerebellar atrophy. ( 9796994 )
1998
32
Non-familial olivopontocerebellar atrophy combined with late onset Alzheimer's disease: a clinico-pathological case report. ( 9543332 )
1998
33
Olivopontocerebellar atrophy and multiple system atrophy: clinical follow-up of 10 patients studied with PET. ( 9667610 )
1998
34
Non-familial olivopontocerebellar atrophy combined with Alzheimer's disease. ( 9849805 )
1998
35
Neurobehavioral dimensions of olivopontocerebellar atrophy. ( 9672819 )
1998
36
Vecuronium dose requirement and pupillary response in a patient with olivopontocerebellar atrophy (OPCA). ( 9836034 )
1998
37
Purkinje cells in olivopontocerebellar atrophy and granule cell-type cerebellar degeneration: an immunohistochemical study. ( 9678515 )
1998
38
Olivopontocerebellar atrophy and Friedreich's ataxia: neuropsychological consequences of bilateral versus unilateral cerebellar lesions. ( 9378599 )
1997
39
Movement-related cortical potentials and contingent negative variation in olivopontocerebellar atrophy. ( 9343719 )
1997
40
MRI in sporadic olivopontocerebellar atrophy and striatonigral degeneration. ( 9065575 )
1997
41
Case of the month: Familial olivopontocerebellar atrophy. Autopsy Committee of the College of American Pathologists. ( 9531223 )
1997
42
P300 and cerebral blood flow before and after TRH in olivopontocerebellar atrophy. ( 9522261 )
1997
43
Analysis of single-joint rapid movements in patients with sporadic olivopontocerebellar atrophy. ( 9349672 )
1997
44
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
45
Decreased striatal monoaminergic terminals in olivopontocerebellar atrophy and multiple system atrophy demonstrated with positron emission tomography. ( 9007093 )
1996
46
Early vocal cord paralysis in olivopontocerebellar atrophy. ( 8892074 )
1996
47
Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I. ( 8923302 )
1996
48
Clinical and radiological features of juvenile onset olivopontocerebellar atrophy. ( 8836589 )
1996
49
Pathology of the cerebellar dentate nucleus in sporadic olivopontocerebellar atrophy: a morphometric investigation. ( 8782162 )
1996
50
Differences between multiple system atrophy and olivopontocerebellar atrophy. ( 9007105 )
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:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.74 ATXN2 ATXN7 SNCA
2 11.31 MAP2 MBP SNCA
3 11.06 CHAT MAP2

GO Terms for Olivopontocerebellar Atrophy

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

id Name GO ID Score Top Affiliating Genes
1 microtubule associated complex GO:0005875 8.96 MAP1B MAP2
2 neuronal cell body GO:0043025 8.92 CRH MAP2 MBP SNCA

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

id Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 9.43 CRH MBP SNCA
2 microtubule cytoskeleton organization GO:0000226 9.4 ATXN7 MAP2
3 long-term synaptic potentiation GO:0060291 9.37 CRH SNCA
4 response to cocaine GO:0042220 9.32 CRH SNCA
5 microtubule bundle formation GO:0001578 8.96 MAP1B MAP2
6 dendrite development GO:0016358 8.85 MAP1B
7 synaptic transmission, dopaminergic GO:0001963 8.62 CRH SNCA

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

id Name GO ID Score Top Affiliating Genes
1 microtubule binding GO:0008017 9.13 MAP1B MAP2 SNCA
2 calmodulin binding GO:0005516 8.8 ATP2B3 MAP2 MBP

Sources for Olivopontocerebellar Atrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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