eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| olivopontocerebellar atrophy | ||||
| Disease ID | 1947 |
|---|---|
| Disease | olivopontocerebellar atrophy |
| Definition | A group of inherited and sporadic disorders which share progressive ataxia in combination with atrophy of the CEREBELLUM; PONS; and inferior olivary nuclei. Additional clinical features may include MUSCLE RIGIDITY; NYSTAGMUS, PATHOLOGIC; RETINAL DEGENERATION; MUSCLE SPASTICITY; DEMENTIA; URINARY INCONTINENCE; and OPHTHALMOPLEGIA. The familial form has an earlier onset (second decade) and may feature spinal cord atrophy. The sporadic form tends to present in the fifth or sixth decade, and is considered a clinical subtype of MULTIPLE SYSTEM ATROPHY. (From Adams et al., Principles of Neurology, 6th ed, p1085) |
| Synonym | ataxia, presenile ataxias, presenile atrophy cerebellar olivo ponto atrophy, olivo-ponto-cerebellar atrophy, olivopontocerebellar atrophy, pontoolivocerebellar degeneration, olivo-ponto-cerebellar degeneration, olivopontocerebellar degenerations, olivo-ponto-cerebellar degenerations, olivopontocerebellar dejerine thomas syndrome dejerine-thomas atrophy dejerine-thomas syndrome dejerine-thomas syndrome (disorder) déjérine-thomas syndrome olivo ponto cerebellar atrophy olivo ponto cerebellar degeneration olivo-ponto-cerebellar atrophy olivo-ponto-cerebellar degeneration olivo-ponto-cerebellar degenerations olivocerebellar atrophy olivocerebellar atrophy (disorder) olivopontocerebellar atrophies olivopontocerebellar atrophies [disease/finding] olivopontocerebellar degeneration olivopontocerebellar degeneration (disorder) olivopontocerebellar degenerations opca opca - olivopontocerebellar atrophy pontoolivocerebellar atrophies pontoolivocerebellar atrophy presenile ataxia presenile ataxia syndrome presenile ataxias syndrome thomas syndrome, dejerine-thomas thomas' syndrome |
| DOID | |
| UMLS | C0028968 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:27) 6311 | ATXN2 | 3.246 | DISEASES 4287 | ATXN3 | 3.544 | DISEASES 6314 | ATXN7 | 3.606 | DISEASES 64115 | C10orf54 | 1.284 | DISEASES 773 | CACNA1A | 3.738 | DISEASES 1103 | CHAT | 2.844 | DISEASES 1431 | CS | 2.526 | DISEASES 79947 | DHDDS | 1.048 | DISEASES 2259 | FGF14 | 2.409 | DISEASES 2271 | FH | 1.253 | DISEASES 2739 | GLO1 | 2.335 | DISEASES 2996 | GYPE | 2.402 | DISEASES 3710 | ITPR3 | 1.564 | DISEASES 81562 | LMAN2L | 3.475 | DISEASES 4155 | MBP | 1.745 | DISEASES 9968 | MED12 | 1.449 | DISEASES 4566 | MT-TK | 1.773 | DISEASES 10528 | NOP56 | 3.43 | DISEASES 25894 | PLEKHG4 | 3.045 | DISEASES 5521 | PPP2R2B | 1.805 | DISEASES 146713 | RBFOX3 | 2.695 | DISEASES 26278 | SACS | 2.46 | DISEASES 26503 | SLC17A5 | 1.273 | DISEASES 23583 | SMUG1 | 1.519 | DISEASES 6622 | SNCA | 3.21 | DISEASES 8801 | SUCLG2 | 1.638 | DISEASES 7018 | TF | 1.34 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1947 |
|---|---|
| Disease | olivopontocerebellar atrophy |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1947 |
|---|---|
| Disease | olivopontocerebellar atrophy |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:18) C2220255 | motor disturbances C1962966 | retinopathy C1536085 | atrophic macular degeneration C0848232 | nocturnal polyuria C0751837 | ataxic gait C0751354 | action myoclonus C0679466 | cognitive deficits C0270733 | striatonigral degeneration C0262405 | brain dysfunction C0242422 | parkinsonism C0235025 | motor peripheral neuropathy C0042928 | vocal cord paralysis C0038450 | stridor C0037822 | speech disorders C0031117 | peripheral neuropathy C0027066 | myoclonus C0011168 | dysphagia C0005747 | blepharospasm |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 1947 |
|---|---|
| Disease | olivopontocerebellar atrophy |
| Case | (Waiting for update.) |