RETINITIS PIGMENTOSA 24
General Information (adopted from Orphanet):
Synonyms, Signs: |
RP24 |
Number of Symptoms | 3 |
OrphanetNr: | |
OMIM Id: |
300155
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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:0008020) | Progressive cone degeneration | 4 / 7739 | ||||
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(HPO:0000510) | Rod-cone dystrophy | 266 / 7739 | ||||
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(HPO:0001417) | X-linked inheritance | 173 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
Clinical Description OMIM |
Gieser et al. (1998) described a 5-generation family with X-linked retinitis pigmentosa designated RP24. Affected males (hemizygotes) had early onset of rod photoreceptor dysfunction; cone-receptor function was normal at first, but there was progressive loss. Patients at advanced ... |