Oguchi disease
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Congenital stationary night blindness, Oguchi type Oguchi syndrome |
| Number of Symptoms | 3 |
| OrphanetNr: | 75382 |
| OMIM Id: |
258100
613411 |
| ICD-10: |
H53.6 |
| UMLs: |
C1306122 |
| MeSH: |
C537743 |
| MedDRA: |
|
| Snomed: |
193687000 |
Prevalence, inheritance and age of onset:
| Prevalence: | 50 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Retinal dystrophy
-Rare eye disease -Rare genetic disease |
Symptom Information:
|
|
(HPO:0007642) | Congenital stationary night blindness | 16 / 7739 | ||||
|
|
(HPO:0012047) | Hemeralopia | 7 / 7739 | ||||
|
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|