RETINITIS PIGMENTOSA 26
General Information (adopted from Orphanet):
| Synonyms, Signs: |
RP26 |
| Number of Symptoms | 7 |
| OrphanetNr: | |
| OMIM Id: |
608380
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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 recessive 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:0000543) | Optic disc pallor | 14681825 | IBIS | 67 / 7739 | ||
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(HPO:0001133) | Constriction of peripheral visual field | 14681825 | IBIS | 33 / 7739 | ||
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(HPO:0000505) | Visual impairment | 14681825 | IBIS | 297 / 7739 | ||
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(HPO:0007843) | Attenuation of retinal blood vessels | 14681825 | IBIS | 25 / 7739 | ||
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(HPO:0007688) | Undetectable light- and dark-adapted electroretinogram | 14681825 | IBIS | 9 / 7739 | ||
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(HPO:0000510) | Rod-cone dystrophy | 266 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Molecular genetics OMIM |
Tuson et al. (2004) identified a novel gene, CERKL, in the RP26 critical linkage region and found a homozygous mutation in exon 5 (608381.0001) of this gene in all of the patients from the RP26 family reported by ... |