Parkinsonian-pyramidal syndrome
General Information (adopted from Orphanet):
Synonyms, Signs: |
Pallidopyramidal syndrome |
Number of Symptoms | 10 |
OrphanetNr: | 171695 |
OMIM Id: |
168100
260300 |
ICD-10: |
G20 |
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: |
Autosomal recessive [Orphanet] |
Age of onset: |
Adolescent Adult [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Rare parkinsonian syndrome due to genetic neurodegenerative disease
-Rare genetic disease Rare parkinsonian syndrome due to neurodegenerative disease -Rare neurologic disease |
Symptom Information:
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(HPO:0000298) | Mask-like facies | 44 / 7739 | ||||
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(HPO:0002063) | Rigidity | 92 / 7739 | ||||
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(HPO:0001337) | Tremor | 200 / 7739 | ||||
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(HPO:0001260) | Dysarthria | 329 / 7739 | ||||
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(HPO:0001288) | Gait disturbance | 318 / 7739 | ||||
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(HPO:0002067) | Bradykinesia | 62 / 7739 | ||||
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(HPO:0001300) | Parkinsonism | 75 / 7739 | ||||
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(HPO:0001939) | Abnormality of metabolism/homeostasis | 328 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(HPO:0003677) | Slow progression | 134 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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