MACULAR DEGENERATION, AGE-RELATED, 6
General Information (adopted from Orphanet):
Synonyms, Signs: |
ARMD6 |
Number of Symptoms | 1 |
OrphanetNr: | |
OMIM Id: |
613757
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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:0000608) | Macular degeneration | 36 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
Molecular genetics OMIM |
In 1 of 92 patients with age-related macular degeneration screened for mutations in the RAXL1 gene, Wang et al. (2004) identified a heterozygous mutation (610362.0001) that would be expected to alter the RAXL1 protein. The mutation was not ... |