MACULAR DEGENERATION, AGE-RELATED, 3
General Information (adopted from Orphanet):
| Synonyms, Signs: |
ARMD3 |
| Number of Symptoms | 3 |
| OrphanetNr: | |
| OMIM Id: |
608895
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| ICD-10: |
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| 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: |
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| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0011510) | Drusen | 15269314 | IBIS | 6 / 7739 | ||
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(HPO:0011506) | Choroidal neovascularization of the macula | 15269314 | IBIS | 1 / 7739 | ||
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(HPO:0000608) | Macular degeneration | 15269314 | IBIS | 36 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Because mutations in the FBLN5 gene cause either cutis laxa (see 219100) or ARMD3, Lotery et al. (2006) raised the possibility that patients with cutis laxa caused by mutation in the FBLN5 gene may have early-onset ARMD, and ... |
| Molecular genetics OMIM |
Stone et al. (2004) studied 402 patients with age-related macular degeneration and identified 7 different mutations in the FBLN5 gene (604580.0003-604580.0009) that were not found in 429 controls (p = 0.006). The 7 patients all had clusters of ... |