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OPCA
MCID: OLV001
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Olivopontocerebellar Atrophy malady |
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25 genes, 5 tissues, 251 related diseases, 3 phenotypes, 13 articles, clinical trials, genetic tests.
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Sources: 30NIH Rare Diseases, 31NINDS, 17Genetics Home Reference, 15GeneReviews, 33OMIM, 22MalaCards See all sources Export this MalaCard |
NIH Rare Diseases: 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.30
MalaCards: Olivopontocerebellar Atrophy, also known as spinocerebellar ataxia type 2, is related to ataxia and spinocerebellar ataxia type 3. An important gene associated with Olivopontocerebellar Atrophy is ATXN7 (ataxin 7), and among its related pathways is Neuroscience. The compounds thioflavine s and ibotenic acid have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and cerebellum, and related mouse phenotypes are growth/size and nervous system. NINDS: Olivopontocerebellar atrophy (OPCA) is a term that describes the degeneration of neurons in specific areas of the brain ? the cerebellum, pons, and inferior olives.31 Genetics Home Reference: Spinocerebellar ataxia type 1 (SCA1) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other signs and symptoms of SCA1 include speech and swallowing difficulties, muscle stiffness (spasticity), and weakness in the muscles that control eye movement (ophthalmoplegia). Eye muscle weakness leads to rapid, involuntary eye movements (nystagmus). Individuals with SCA1 may have difficulty processing, learning, and remembering information (cognitive impairment).17 Wikipedia: Olivopontocerebellar atrophy (OPCA) is a term that describes the degeneration of neurons in specific...44 more... OMIM: 183090 GeneReviews summary for sca1 GeneReviews summary for sca2 |
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Sources: 6Disease Ontology, 15GeneReviews, 30NIH Rare Diseases, 16GeneTests, 17Genetics Home Reference, 31NINDS, 8DISEASES, 33OMIM, 32Novoseek , 43UMLS, 27NCIt, 40SNOMED-CT, 24MeSH See all sources |
Aliases & Descriptions:
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Sources: 33OMIM See all sources |
Clinical features from OMIM: 183090
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Sources: 4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT See all sources |
Approved drugs:Search CenterWatch for olivopontocerebellar atrophy Drug clinical trials:Search ClinicalTrials for olivopontocerebellar atrophy Search NIH Clinical Center for olivopontocerebellar atrophy Search CenterWatch for olivopontocerebellar atrophy |
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Sources: 16GeneTests See all sources |
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Sources: 22MalaCards See all sources |
MalaCards organs/tissues related to olivopontocerebellar atrophy:22Brain, Cortex, Cerebellum, Spinal cord, Pons
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Sources: 25MGI See all sources |
MGI Mouse Phenotypes related to olivopontocerebellar atrophy:25
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Sources: 35PubMed See all sources |
Articles related to olivopontocerebellar atrophy:(show all 13)
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Sources: 1BioGPS See all sources |
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Sources: 32Novoseek , 9DrugBank, 18HMDB, 34PharmGKB, 42Tocris Bioscience See all sources |
Compounds related to olivopontocerebellar atrophy according to GeneDecks:(show top 50) (show all 87)
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Sources: 12Gene Ontology See all sources |
Cellular components related to olivopontocerebellar atrophy according to GeneDecks:
Biological processes related to olivopontocerebellar atrophy according to GeneDecks:(show all 10)
Molecular functions related to olivopontocerebellar atrophy according to GeneDecks:
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