Familial drusen
General Information (adopted from Orphanet):
| Synonyms, Signs: |
DHRD Dominant radial drusen Dominant drusen Doyne honeycomb retinal dystrophy Malattia leventinese |
| Number of Symptoms | 4 |
| OrphanetNr: | 75376 |
| OMIM Id: |
126600
126700 |
| ICD-10: |
H35.5 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Disease predisposing to age-related macular degeneration
-Rare eye disease -Rare genetic disease Familial flecked retinopathy -Rare eye disease -Rare genetic disease |
Symptom Information:
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(HPO:0007937) | Reticular pigmentary degeneration | 3 / 7739 | ||||
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(HPO:0000556) | Retinal dystrophy | 65 / 7739 | ||||
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(HPO:0000505) | Visual impairment | 297 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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