PALLIDAL DEGENERATION, PROGRESSIVE, WITH RETINITIS PIGMENTOSA
General Information (adopted from Orphanet):
|
Synonyms, Signs:
|
|
|
Number of Symptoms
|
8
|
|
OrphanetNr:
|
|
|
OMIM Id:
|
260200
|
|
ICD-10:
|
|
|
UMLs:
|
|
|
MeSH:
|
|
|
MedDRA:
|
|
|
Snomed:
|
|
Prevalence, inheritance and age of onset:
|
Prevalence:
|
No data available.
|
|
Inheritance:
|
|
|
Age of onset:
|
|
Disease classification (adopted from Orphanet):
|
Parent Diseases:
|
No data available.
|
|
|
|
|
|
|
|
|
|
|
1
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
|
2
|
(HPO:0000510)
|
Rod-cone dystrophy |
|
|
|
|
266 / 7739
|
|
3
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
4
|
(HPO:0007158)
|
Progressive extrapyramidal muscular rigidity |
|
|
|
|
1 / 7739
|
|
5
|
(OMIM)
|
Early-onset retinitis pigmentosa |
|
|
|
|
1 / 7739
|
|
6
|
(OMIM)
|
No sensory changes |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
Pallidal and reticular substantia nigral degeneration |
|
|
|
|
1 / 7739
|
|
8
|
(HPO:0007132)
|
Pallidal degeneration |
|
|
|
|
3 / 7739
|
ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |