Classical progressive supranuclear palsy
General Information (adopted from Orphanet):
Synonyms, Signs: |
Classical PSP Steele-Richardson-Olszewski disease Richardson syndrome |
Number of Symptoms | 29 |
OrphanetNr: | 240071 |
OMIM Id: |
601104
609454 610898 |
ICD-10: |
G23.1 |
UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Not applicable [Orphanet] |
Age of onset: |
Adult [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Progressive supranuclear palsy
-Rare eye disease -Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0002544) | Retrocollis | 5 / 7739 | ||||
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(HPO:0000658) | Eyelid apraxia | 5 / 7739 | ||||
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(HPO:0000651) | Diplopia | 37 / 7739 | ||||
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(HPO:0000622) | Blurred vision | 14 / 7739 | ||||
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(HPO:0000605) | Supranuclear gaze palsy | 16 / 7739 | ||||
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(HPO:0000613) | Photophobia | 158 / 7739 | ||||
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(HPO:0001260) | Dysarthria | 329 / 7739 | ||||
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(HPO:0002067) | Bradykinesia | 62 / 7739 | ||||
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(HPO:0002354) | Memory impairment | 63 / 7739 | ||||
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(HPO:0002141) | Gait imbalance | 55 / 7739 | ||||
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(HPO:0002304) | Akinesia | 18 / 7739 | ||||
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(HPO:0000737) | Irritability | 93 / 7739 | ||||
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(HPO:0000741) | Apathy | 42 / 7739 | ||||
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(HPO:0002451) | Limb dystonia | 18% [HPO:probinson] | 16 / 7739 | |||
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(HPO:0002300) | Mutism | 28 / 7739 | ||||
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(HPO:0001337) | Tremor | 30% [HPO:probinson] | 200 / 7739 | |||
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(HPO:0002015) | Dysphagia | 301 / 7739 | ||||
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(HPO:0002439) | Frontolimbic dementia | 3 / 7739 | ||||
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(HPO:0002530) | Axial dystonia | 6 / 7739 | ||||
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(HPO:0002063) | Rigidity | 92 / 7739 | ||||
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(HPO:0002527) | Falls | 10 / 7739 | ||||
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(HPO:0000743) | Frontal release signs | 45% [HPO:probinson] | 6 / 7739 | |||
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(HPO:0001300) | Parkinsonism | 75 / 7739 | ||||
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(HPO:0002171) | Gliosis | 48 / 7739 | ||||
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(HPO:0003581) | Adult onset | 117 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(HPO:0002528) | Granulovacuolar degeneration | 3 / 7739 | ||||
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(HPO:0002529) | Neuronal loss in central nervous system | 37 / 7739 | ||||
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(HPO:0002185) | Neurofibrillary tangles | 14 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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