Olivopontocerebellar Atrophy malady
Categories: Rare diseases, Cardiovascular diseases, Nephrological diseases, Fetal diseases, Neuronal diseases
Aliases & Descriptions for Olivopontocerebellar Atrophy:
Orphanet epidemiological data:52
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile,stillbirth
Global: Rare diseases, Fetal diseases
Anatomical: Cardiovascular diseases, Nephrological diseases, Neuronal diseases
Rare cardiac malformations
Rare renal diseases
Developmental anomalies during embryogenesis
NIH Rare Diseases:46 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 olivopontocerebellar atrophy deafness and spinocerebellar ataxia 1, and has symptoms including multicystic kidney dysplasia, oral cleft and oligohydramnios. An important gene associated with Olivopontocerebellar Atrophy is ATXN7 (Ataxin 7), and among its related pathways are Sympathetic Nerve Pathway (Pre- and Post- Ganglionic Junction) and Biogenic Amine Synthesis. Affiliated tissues include brain, cerebellum and pons, and related mouse phenotypes are vision/eye and normal.
Disease Ontology:11 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:47 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:69 Olivopontocerebellar atrophy (OPCA) is the degeneration of neurons in specific areas of the brain –... more...
Symptoms:52 (show all 11)
HPO human phenotypes related to Olivopontocerebellar Atrophy:(show all 9)
UMLS symptoms related to Olivopontocerebellar Atrophy:cerebellar ataxia, muscle rigidity, muscle spasticity, myoclonus, ophthalmoplegia, bradykinesia, dysdiadochokinesis
Drugs for Olivopontocerebellar Atrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 310)
Interventional clinical trials:(show top 50) (show all 527)
Search NIH Clinical Center for Olivopontocerebellar Atrophy
MalaCards organs/tissues related to Olivopontocerebellar Atrophy:34
Brain, Cerebellum, Pons, Lung, Eye, Testes, Heart
Articles related to Olivopontocerebellar Atrophy:(show top 50) (show all 182)
Search GEO for disease gene expression data for Olivopontocerebellar Atrophy.
Pathways related to Olivopontocerebellar Atrophy according to GeneCards Suite gene sharing:
Cellular components related to Olivopontocerebellar Atrophy according to GeneCards Suite gene sharing:
Biological processes related to Olivopontocerebellar Atrophy according to GeneCards Suite gene sharing:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet