MCID: OLV001
MIFTS: 48

Olivopontocerebellar Atrophy malady

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

Aliases & Classifications for Olivopontocerebellar Atrophy

About this section
Sources:
65UMLS, 10Disease Ontology, 45NIH Rare Diseases, 46NINDS, 12DISEASES, 51Orphanet, 47Novoseek, 36MeSH, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Olivopontocerebellar Atrophy:

Name: Olivopontocerebellar Atrophy 10 45 46 12
Olivopontocerebellar Atrophies 47 36 65
Thomas Syndrome 45 51 65
Potter Sequence-Cleft Lip/palate-Cardiopathy Syndrome 51
Spinocerebellar Ataxia Type 2 65
 
Dejerine-Thomas Syndrome 10
Wadia-Swami Syndrome 10
Thomas' Syndrome 10
Opca 45

Characteristics:

Orphanet epidemiological data:

51
thomas syndrome:
Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Disease Ontology10 DOID:14784
MeSH36 D009849
NCIt42 C84947
Orphanet51 3316
SNOMED-CT59 67761004
ICD10 via Orphanet28 Q87.8
MESH via Orphanet37 C536514
UMLS via Orphanet66 C2931225
UMLS65 C0028968, C0752121, C2931225

Summaries for Olivopontocerebellar Atrophy

About this section
NIH Rare Diseases:45 Olivopontocerebellar atrophy (opca) is a progressive condition characterized by the degeneration of nerve cells (neurons) in specific areas of the brain. it occurs in several neurodegenerative diseases, including multiple system atrophy (msa) and inherited and non-inherited forms of ataxia. 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. last updated: 4/4/2016

MalaCards based summary: Olivopontocerebellar Atrophy, also known as olivopontocerebellar atrophies, is related to spinocerebellar ataxia 7 and pick disease, 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 Alpha-synuclein signaling and Parkinsons Disease Pathway. Affiliated tissues include brain, cerebellum and pons, and related mouse phenotypes are reproductive system and growth/size/body region.

Disease Ontology:10 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:46 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:68 Olivopontocerebellar atrophy (OPCA) is the degeneration of neurons in specific areas of the brain –... more...

Related Diseases for Olivopontocerebellar Atrophy

About this section

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

(show top 50)    (show all 69)
idRelated DiseaseScoreTop Affiliating Genes
1spinocerebellar ataxia 732.4ATXN2, ATXN7
2pick disease28.8RPS27A, SNCA
3olivopontocerebellar atrophy deafness12.1
4spinocerebellar ataxia 111.8
5spinocerebellar ataxia 211.4
6spinocerebellar ataxia, x-linked 111.0
7multiple system atrophy, cerebellar type11.0
8multiple system atrophy10.4
9encephalitozoonosis10.3MBP, SLC6A3
10cerebritis10.3
11hereditary hemorrhagic telangiectasia10.3ATXN2, ATXN7
12dementia10.3
13ataxia10.3
14celiac disease 1310.2ATXN2, ATXN7
15retinitis10.2
16neuronitis10.2
17retinal degeneration10.2
18schistosoma mansoni infection, susceptibility/10.2ATXN2, ATXN7
19parasitic protozoa infectious disease10.2ATXN2, ATXN7
20peripheral neuropathy10.2
21striatonigral degeneration10.2
22neuropathy10.2
23okt4 epitope deficiency10.1ATXN2, ATXN7
24subcortical arteriosclerotic encephalopathy10.1ATXN2, RPS27A
25adrenoleukodystrophy10.1
26spinal muscular atrophy10.1
27muscular atrophy10.1
28myoclonus10.1
29mucinous cystadenocarcinoma10.1MAP2, SLC6A3
30cerebellar ataxia10.0
31neuropathy ataxia retinitis pigmentosa syndrome10.0RPS27A, SNCA
32purpura simplex10.0NPPA, SNCA
33esophagus carcinoma in situ9.9SLC6A3, SNCA
34machado-joseph disease9.9
35insulin-like growth factor i9.9
36duchenne muscular dystrophy9.9
37cataract9.9
38motor neuron disease9.9
39respiratory failure9.9
40lateral sclerosis9.9
41motor peripheral neuropathy9.9
42blepharospasm9.9
43speech disorder9.9
44muscular dystrophy9.9
45cerebellar degeneration9.9
46corticobasal degeneration9.9
47autonomic dysfunction9.9
48paraneoplastic syndromes9.9
49labyrinthine bilateral reactive loss9.8ATXN2, ATXN7
50maxillary sinus schneiderian papilloma9.8SLC6A3, SNCA

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



Diseases related to olivopontocerebellar atrophy

Symptoms for Olivopontocerebellar Atrophy

About this section

Symptoms:

 51 (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 9)
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

UMLS symptoms related to Olivopontocerebellar Atrophy:


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

Drugs & Therapeutics for Olivopontocerebellar Atrophy

About this section

Interventional clinical trials:

idNameStatusNCT IDPhase
1Fipamezole in Neurogenic Orthostatic HypotensionNot yet recruitingNCT00758849Phase 2

Search NIH Clinical Center for Olivopontocerebellar Atrophy


Cochrane evidence based reviews: olivopontocerebellar atrophies

Genetic Tests for Olivopontocerebellar Atrophy

About this section

Anatomical Context for Olivopontocerebellar Atrophy

About this section

MalaCards organs/tissues related to Olivopontocerebellar Atrophy:

33
Brain, Cerebellum, Pons, Eye, Heart, Kidney, Prostate

Animal Models for Olivopontocerebellar Atrophy or affiliated genes

About this section

MGI Mouse Phenotypes related to Olivopontocerebellar Atrophy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053897.9ATXN2, ATXN7, MAP1B, MAP2, MBP, SLC6A3
2MP:00053787.5ATXN2, ATXN7, GNAI2, MAP1B, MAP2, SLC6A3
3MP:00053867.3ATXN2, ATXN7, GNAI2, MAP1B, MAP2, MBP
4MP:00036317.3ATXN2, ATXN7, GNAI2, MAP1B, MAP2, MBP
5MP:00107687.1ATXN2, ATXN7, GNAI2, MAP1B, MAP2, MBP

Publications for Olivopontocerebellar Atrophy

About this section

Articles related to Olivopontocerebellar Atrophy:

(show top 50)    (show all 183)
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
Olivopontocerebellar atrophy and peripheral neuropathy--Wadia type. (10999111)
1999
6
Early onset cerebellar ataxia with retained tendon reflexes (EOCA) and olivopontocerebellar atrophy (OPCA): a computed tomographic study. (10625898)
1999
7
Vecuronium dose requirement and pupillary response in a patient with olivopontocerebellar atrophy (OPCA). (9836034)
1998
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
The Purkinje cell in olivopontocerebellar atrophy. A Golgi and immunocytochemical study. (7516051)
1994
18
Brainstem reflexes in patients with olivopontocerebellar atrophy. (7969244)
1994
19
Facial action myoclonus in patients with olivopontocerebellar atrophy. (8196688)
1994
20
Reflex myoclonus in olivopontocerebellar atrophy. (8158179)
1994
21
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
22
Machado-Joseph disease in New England: clinical description and distinction from the olivopontocerebellar atrophies. (1620136)
1992
23
Quinolinic acid catabolism is increased in cerebellum of patients with dominantly inherited olivopontocerebellar atrophy. (1825460)
1991
24
Olivopontocerebellar atrophy of neonatal onset and disialotransferrin developmental deficiency syndrome. (1929507)
1991
25
Argyrophilic ubiquitinated cytoplasmic inclusions of Leu-7-positive glial cells in olivopontocerebellar atrophy (multiple system atrophy). (1723828)
1991
26
Brain amino acid reductions in one family with chromosome 6p-linked dominantly inherited olivopontocerebellar atrophy. (1686387)
1991
27
Nocturnal stridor in olivopontocerebellar atrophy. (2267479)
1990
28
Morphometric studies in dominant olivopontocerebellar atrophy. Comparison of cell losses with amino acid decreases. (2302090)
1990
29
Cytoplasmic argyrophilic inclusions in neurons of pontine nuclei in patients with olivopontocerebellar atrophy: immunohistochemical and ultrastructural studies. (2163181)
1990
30
Olivopontocerebellar atrophy presenting with hemiparkinsonian ocular motor signs. (2144540)
1990
31
Blepharospasm associated with olivopontocerebellar atrophy. (2531169)
1989
32
Olivopontocerebellar atrophy in a large Iakut kinship in eastern Siberia. (2812335)
1989
33
Non-Alzheimer-type pattern of brain cholineacetyltransferase reduction in dominantly inherited olivopontocerebellar atrophy. (2802535)
1989
34
Olivopontocerebellar atrophy. (3195154)
1988
35
Auditory brainstem response patterns in familial and sporadic olivopontocerebellar atrophy. (3224625)
1988
36
Brain choline acetyltransferase reduction in dominantly inherited olivopontocerebellar atrophy. (3477997)
1987
37
Glutamate dehydrogenase and its isozyme activity in olivopontocerebellar atrophy. (3734837)
1986
38
Sensory and motor peripheral neuropathy in olivopontocerebellar atrophy. (3014798)
1986
39
Neuronal loss in the basal nucleus of Meynert in a patient with olivopontocerebellar atrophy. (4013667)
1985
40
Enzymatic analysis of individual posterior root ganglion cells in olivopontocerebellar atrophy, amyotrophic lateral sclerosis and Duchenne muscular dystrophy. (4045497)
1985
41
Reduction of noradrenaline in cerebellum of patients with olivopontocerebellar atrophy. (6707646)
1984
42
Electromyography and nerve conduction study in autosomal dominant olivopontocerebellar atrophy. (6716108)
1984
43
Benzodiazepine receptor binding in cerebellar cortex: observations in olivopontocerebellar atrophy. (6319600)
1984
44
The neuropathology of olivopontocerebellar atrophy. (6388270)
1984
45
Abnormal metabolism of neuroexcitatory amino acids in olivopontocerebellar atrophy. (6149677)
1984
46
Evoked potentials in olivopontocerebellar atrophy. (6847444)
1983
47
Olivopontocerebellar atrophy with velopharyngolaryngeal paralysis: a contribution to the somatotopy of the nucleus ambiguus. (448399)
1979
48
Olivopontocerebellar atrophy in a cat. (21010608)
1946
49
Olivopontocerebellar atrophy (heredocerebellar ataxia of Marie) with encephalographic findings. (20274023)
1946
50

Variations for Olivopontocerebellar Atrophy

About this section

Expression for genes affiliated with Olivopontocerebellar Atrophy

About this section
Search GEO for disease gene expression data for Olivopontocerebellar Atrophy.

Pathways for genes affiliated with Olivopontocerebellar Atrophy

About this section

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

idSuper pathwaysScoreTop Affiliating Genes
19.3SLC6A3, SNCA
29.0ATXN2, SLC6A3, SNCA
3
Show member pathways
8.1ATXN2, ATXN7, RPS27A, SLC6A3, SNCA

GO Terms for genes affiliated with Olivopontocerebellar Atrophy

About this section

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

idNameGO IDScoreTop Affiliating Genes
1membrane organizationGO:00610249.2MBP, RPS27A, SNCA
2synaptic transmissionGO:00072689.1GNAI2, MBP, SNCA
3cellular protein metabolic processGO:00442679.0NPPA, RPS27A, SNCA

Sources for Olivopontocerebellar Atrophy

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet