RETINITIS PIGMENTOSA 29
General Information (adopted from Orphanet):
Synonyms, Signs: |
RP29 |
Number of Symptoms | 3 |
OrphanetNr: | |
OMIM Id: |
612165
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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:0007843) | Attenuation of retinal blood vessels | 25 / 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:
Clinical Description OMIM |
Hameed et al. (2001) reported a 6-generation, consanguineous Pakistani family with autosomal recessive retinitis pigmentosa (arRP). All affected individuals had pigmentary retinopathy associated with symptoms of night blindness and the loss of peripheral visual fields by the age ... |