OPTIC ATROPHY--SPASTIC PARAPLEGIA SYNDROME
General Information (adopted from Orphanet):
|
Synonyms, Signs:
|
|
|
Number of Symptoms
|
4
|
|
OrphanetNr:
|
|
|
OMIM Id:
|
311100
|
|
ICD-10:
|
|
|
UMLs:
|
|
|
MeSH:
|
|
|
MedDRA:
|
|
|
Snomed:
|
|
Prevalence, inheritance and age of onset:
|
Prevalence:
|
No data available.
|
|
Inheritance:
|
X-linked
[Omim]
|
|
Age of onset:
|
|
Disease classification (adopted from Orphanet):
|
Parent Diseases:
|
No data available.
|
|
|
|
|
|
|
|
|
|
|
1
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
2
|
(HPO:0001258)
|
Spastic paraplegia |
|
|
|
|
97 / 7739
|
|
3
|
(HPO:0004924)
|
Abnormal oral glucose tolerance |
|
|
|
|
2 / 7739
|
|
4
|
(OMIM)
|
Mild red cell macrocytosis |
|
|
|
|
1 / 7739
|
ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |