Stargardt disease
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Fundus flavimaculatus Macular dystrophy with flecks |
| Number of Symptoms | 4 |
| OrphanetNr: | 827 |
| OMIM Id: |
248200
600110 603786 |
| ICD-10: |
H35.5 |
| UMLs: |
C0271093 |
| MeSH: |
|
| MedDRA: |
10062766 |
| Snomed: |
70099003 |
Prevalence, inheritance and age of onset:
| Prevalence: | 10 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal dominant Autosomal recessive [Orphanet] |
| Age of onset: |
Childhood Adolescent Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Familial flecked retinopathy
-Rare eye disease -Rare genetic disease |
Symptom Information:
|
|
(HPO:0000608) | Macular degeneration | 36 / 7739 | ||||
|
|
(HPO:0011504) | Bull's eye maculopathy | 15/15 [HPO:probinson] | 8 / 7739 | |||
|
|
(HPO:0008035) | Retinitis pigmentosa inversa | 3 / 7739 | ||||
|
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|