MCID: OLV001
MIFTS: 51

Olivopontocerebellar Atrophy malady

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

Aliases & Classifications for Olivopontocerebellar Atrophy

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

Aliases & Descriptions for Olivopontocerebellar Atrophy:

Name: Olivopontocerebellar Atrophy 10 45 46 12
Olivopontocerebellar Atrophies 47 65 36
Thomas Syndrome 45 51 65
Potter Sequence - Cleft Lip/palate - Cardiopathy 51
Olivopontocerebellar Degeneration 10
Spinocerebellar Ataxia Type 2 65
Spinocerebellar Ataxia Type 1 65
 
Spinocerebellar Ataxia 1 10
Spinocerebellar Ataxia 2 10
Dejerine-Thomas Syndrome 10
Wadia-Swami Syndrome 10
Thomas' Syndrome 10
Opca 45


Classifications:



Characteristics (Orphanet epidemiological data):

51
thomas syndrome:
Age of onset: Infancy,Neonatal


External Ids:

Disease Ontology10 DOID:14784
NCIt42 C84947
MeSH36 D009849
Orphanet51 3316
ICD10 via Orphanet28 Q87.8
MESH via Orphanet37 C536514
UMLS via Orphanet66 C2931225

Summaries for Olivopontocerebellar Atrophy

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NIH Rare Diseases:45 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

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 Biogenic Amine Synthesis and Sympathetic Nerve Pathway (Pre- and Post- Ganglionic Junction). Affiliated tissues include brain, cerebellum and pons, and related mouse phenotypes are taste/olfaction and muscle.

Disease Ontology:10 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.

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

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

(show top 50)    (show all 107)
idRelated DiseaseScoreTop Affiliating Genes
1spinocerebellar ataxia 730.9ATXN2, ATXN7
2pick disease30.3MAPT, RPS27A, SNCA
3cerebellar ataxia30.1ATXN1, ATXN2, ATXN7
4spinocerebellar ataxia 1230.0ATXN1, ATXN2, ATXN7
5spinocerebellar degeneration29.8ATXN1, ATXN2, ATXN7
6ataxias and cerebellar or spinocerebellar degeneration29.8ATXN1, ATXN2, ATXN7
7multiple system atrophy29.6ATXN1, CHAT, MAP2, MAPT, MBP, RPS27A
8schizophrenia29.6GABBR1, MAP2, MBP, SLC6A3, TH
9spinocerebellar ataxia 110.6
10spinocerebellar ataxia 210.6
11cerebritis10.6
12dementia10.5
13ataxia10.5
14neuronitis10.5
15striatonigral degeneration10.4
16neuropathy10.4
17peripheral neuropathy10.4
18retinal degeneration10.4
19retinitis10.4
20olivopontocerebellar atrophy deafness10.4
21adrenoleukodystrophy10.4
22spinal muscular atrophy10.4
23muscular atrophy10.4
24myoclonus10.4
25spinocerebellar ataxia10.3
26vulvar intraepithelial neoplasia10.3MBP, TH
27bradyopsia10.2MAPT, RPS27A
28semmekrot haraldsson weemaes syndrome10.2MAPT, RPS27A
29chiari malformation type 110.2MAP2, MBP
30intravascular angioleiomyoma10.2MAPT, SLC6A3
31secretory diarrhea10.2MAPT, SLC6A3
32corticosteroid-sensitive aseptic abscesses10.2MAPT, RPS27A
33hepatocellular carcinoma10.2
34major depressive disorder and accelerated response to antidepressant drug treatment10.2
35spinocerebellar ataxia 2010.2
36spinocerebellar ataxia 510.2
37neurotic disorder10.2
38primary cerebellar degeneration10.2
39cerebellar disease10.2
40cerebral degeneration10.2
41mental depression10.2
42mood disorder10.2
43spinal cord disease10.2
44degenerative nerve diseases10.2
45genetic brain disorders10.2
46neurologic diseases10.2
47spinocerebellar atrophy10.2
48headache10.2CHAT, MBP
49parkinson disease type 910.1MAPT, SNCA
50de sanctis-cacchione syndrome10.1

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:

 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

Drugs & Therapeutics for Olivopontocerebellar Atrophy

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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

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Anatomical Context for Olivopontocerebellar Atrophy

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MalaCards organs/tissues related to Olivopontocerebellar Atrophy:

33
Brain, Cerebellum, Pons, Spinal cord, Kidney, Heart, Cortex

Animal Models for Olivopontocerebellar Atrophy or affiliated genes

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MGI Mouse Phenotypes related to Olivopontocerebellar Atrophy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053949.5MAPT, SLC6A3, SNCA
2MP:00053698.2ATXN1, ATXN7, CHAT, MAPT, NPPA, SLC6A3
3MP:00053897.0ATXN2, ATXN7, CHAT, GABBR1, MAP1B, MAP2
4MP:00053785.8ATXN1, ATXN2, ATXN7, CHAT, GABBR1, GNAI2
5MP:00053765.6ATXN1, ATXN2, CHAT, GABBR1, GNAI2, MAP1B
6MP:00107685.5ATXN1, ATXN2, ATXN7, CHAT, GABBR1, GNAI2
7MP:00053865.3ATXN1, ATXN2, ATXN7, CHAT, GABBR1, GNAI2
8MP:00036315.2ATXN1, ATXN2, ATXN7, CHAT, GABBR1, GNAI2

Publications for Olivopontocerebellar Atrophy

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Articles related to Olivopontocerebellar Atrophy:

(show top 50)    (show all 178)
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
Vecuronium dose requirement and pupillary response in a patient with olivopontocerebellar atrophy (OPCA). (9836034)
1998
9
Purkinje cells in olivopontocerebellar atrophy and granule cell-type cerebellar degeneration: an immunohistochemical study. (9678515)
1998
10
Olivopontocerebellar atrophy and multiple system atrophy: clinical follow-up of 10 patients studied with PET. (9667610)
1998
11
Neurobehavioral dimensions of olivopontocerebellar atrophy. (9672819)
1998
12
Movement-related cortical potentials and contingent negative variation in olivopontocerebellar atrophy. (9343719)
1997
13
Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I. (8923302)
1996
14
The relationship of multiple system atrophy to sporadic olivopontocerebellar atrophy and other forms of idiopathic late-onset cerebellar atrophy. (8628452)
1996
15
Familial infantile olivopontocerebellar atrophy. (7575842)
1995
16
A comparison of cerebral blood flow and glucose metabolism in olivopontocerebellar atrophy using PET. (7617196)
1995
17
Striatal dihydroxyphenylalanine decarboxylase and tyrosine hydroxylase protein in idiopathic Parkinson's disease and dominantly inherited olivopontocerebellar atrophy. (7885342)
1995
18
Positron emission tomography studies on the dopaminergic system and striatal opioid binding in the olivopontocerebellar atrophy variant of multiple system atrophy. (7755350)
1995
19
The Purkinje cell in olivopontocerebellar atrophy. A Golgi and immunocytochemical study. (7516051)
1994
20
Brainstem reflexes in patients with olivopontocerebellar atrophy. (7969244)
1994
21
Facial action myoclonus in patients with olivopontocerebellar atrophy. (8196688)
1994
22
Reflex myoclonus in olivopontocerebellar atrophy. (8158179)
1994
23
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
24
Machado-Joseph disease in New England: clinical description and distinction from the olivopontocerebellar atrophies. (1620136)
1992
25
Quinolinic acid catabolism is increased in cerebellum of patients with dominantly inherited olivopontocerebellar atrophy. (1825460)
1991
26
Olivopontocerebellar atrophy of neonatal onset and disialotransferrin developmental deficiency syndrome. (1929507)
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:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ATXN2NP_002964.3: p.Gln166(> =33)NT expansionPathogenic
2ATXN1NM_000332.3(ATXN1)NT expansionPathogenicrs193922926GRCh37Chr 6, 16327918: 16327920

Expression for genes affiliated with Olivopontocerebellar Atrophy

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Search GEO for disease gene expression data for Olivopontocerebellar Atrophy.

Pathways for genes affiliated with Olivopontocerebellar Atrophy

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GO Terms for genes affiliated with Olivopontocerebellar Atrophy

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

idNameGO IDScoreTop Affiliating Genes
1nuclear peripheryGO:003439910.4MAP2, MAPT
2smooth endoplasmic reticulumGO:000579010.2MAP2, TH
3microtubule associated complexGO:000587510.0MAP1B, MAP2, MAPT
4postsynaptic densityGO:00140699.6MAP1B, MAP2, MAPT
5dendriteGO:00304259.1GABBR1, MAP2, MAPT, TH
6neuronal cell bodyGO:00430258.8MAP2, MBP, SLC6A3, TH
7axonGO:00304248.7MAPT, SLC6A3, SNCA, TH
8cytoplasmGO:00057374.8ATXN1, ATXN2, ATXN7, CHAT, GABBR1, GNAI2

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of insulin-like growth factor receptor signaling pathwayGO:004356910.4ATXN1, ATXN7
2negative regulation of phosphorylationGO:004232610.3ATXN1, ATXN7
3excitatory postsynaptic potentialGO:006007910.3ATXN1, SNCA
4microtubule bundle formationGO:000157810.2MAP1B, MAP2
5positive regulation of axon extensionGO:004577310.1MAP1B, MAPT
6mitochondrion transport along microtubuleGO:004749710.1MAP1B, MAPT
7axon extensionGO:004867510.0MAP1B, MAPT
8dopamine uptake involved in synaptic transmissionGO:00515839.9SLC6A3, SNCA
9gamma-aminobutyric acid signaling pathwayGO:00072149.9GABBR1, GNAI2
10negative regulation of intracellular transportGO:00323879.8MAP1B, MAPT
11synaptic transmission, dopaminergicGO:00019639.8SNCA, TH
12axonogenesisGO:00074099.6MAP1B, MAP2, MAPT
13microtubule cytoskeleton organizationGO:00002269.4ATXN7, MAP1B, MAP2, MAPT
14negative regulation of adenylate cyclase activityGO:00071949.3GABBR1, GNAI2
15neurotransmitter biosynthetic processGO:00421369.1CHAT, SLC6A3, TH
16dopamine biosynthetic processGO:00424169.0SLC6A3, SNCA, TH
17synaptic transmissionGO:00072687.6CHAT, GABBR1, GNAI2, MBP, SLC6A3, SNCA

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

idNameGO IDScoreTop Affiliating Genes
1ferrous iron bindingGO:000819810.0SNCA, TH
2dopamine bindingGO:00352409.2SLC6A3, TH
3microtubule bindingGO:00080178.8MAP1B, MAP2, MAPT, SNCA

Sources for Olivopontocerebellar Atrophy

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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