POSTERIOR COLUMN ATAXIA
General Information (adopted from Orphanet):
Synonyms, Signs: |
BIEMOND ATAXIA |
Number of Symptoms | 12 |
OrphanetNr: | |
OMIM Id: |
176250
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ICD-10: |
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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 dominant inheritance [Omim] |
Age of onset: |
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Disease classification (adopted from Orphanet):
Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0002495) | Impaired vibratory sensation | 26 / 7739 | ||||
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(HPO:0001251) | Ataxia | 413 / 7739 | ||||
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(HPO:0010831) | Impaired proprioception | 7 / 7739 | ||||
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(HPO:0001315) | Reduced tendon reflexes | 160 / 7739 | ||||
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(HPO:0002650) | Scoliosis | 705 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Pain and temperature sensations preserved | 1 / 7739 | ||||
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(OMIM) | Progressive vibratory and postural sensibility loss | 1 / 7739 | ||||
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(OMIM) | Muscle stretch reflex losses | 1 / 7739 | ||||
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(OMIM) | No cerebellar or pyramidal tract involvement | 1 / 7739 | ||||
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(OMIM) | Flexor plantar responses | 2 / 7739 | ||||
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(OMIM) | Ataxia due to posterior column degeneration | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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