RETINAL CONE DYSTROPHY 1
General Information (adopted from Orphanet):
| Synonyms, Signs: |
RETINAL CONE DEGENERATION CONE DYSTROPHY, AUTOSOMAL DOMINANT RCD1 |
| Number of Symptoms | 7 |
| OrphanetNr: | |
| OMIM Id: |
180020
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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: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0000613) | Photophobia | 158 / 7739 | ||||
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(HPO:0000642) | Red-green dyschromatopsia | 25 / 7739 | ||||
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(HPO:0007641) | Dyschromatopsia | 19 / 7739 | ||||
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(HPO:0007829) | Diffuse retinal cone degeneration | 2 / 7739 | ||||
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(HPO:0000529) | Progressive visual loss | 54 / 7739 | ||||
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(OMIM) | Distinctive electroretinogram | 1 / 7739 | ||||
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(OMIM) | Bull's eye macular lesion | 2 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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