OLIVOPONTOCEREBELLAR ATROPHY V

General Information (adopted from Orphanet):

Synonyms, Signs: OPCA V
OPCA WITH DEMENTIA AND EXTRAPYRAMIDAL SIGNS
Number of Symptoms 11
OrphanetNr:
OMIM Id: 164700
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0002072) Chorea 53 / 7739
2
 (HPO:0002071) Abnormality of extrapyramidal motor function 76 / 7739
3
 (HPO:0002063) Rigidity 92 / 7739
4
 (HPO:0000726) Dementia 131 / 7739
5
 (HPO:0001251) Ataxia 413 / 7739
6
 (HPO:0001272) Cerebellar atrophy 197 / 7739
7
 (OMIM) Cerebellar atrophy with degeneration in the olivary nuclei 1 / 7739
8
 (HPO:0002542) Olivopontocerebellar atrophy 11 / 7739
9
 (HPO:0200147) Neuronal loss in basal ganglia 3 / 7739
10
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
11
 (HPO:0008303) Olivary degeneration 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: