RETINITIS PIGMENTOSA 35
General Information (adopted from Orphanet):
| Synonyms, Signs: |
RP35 |
| Number of Symptoms | 11 |
| OrphanetNr: | |
| OMIM Id: |
610282
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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 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:0000548) | Cone/cone-rod dystrophy | 47 / 7739 | ||||
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(HPO:0000618) | Blindness | 124 / 7739 | ||||
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(HPO:0000510) | Rod-cone dystrophy | 266 / 7739 | ||||
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(HPO:0000662) | Nyctalopia | 92 / 7739 | ||||
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(HPO:0001000) | Abnormality of skin pigmentation | 105 / 7739 | ||||
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(OMIM) | Attenuated blood vessels in periphery | 1 / 7739 | ||||
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(OMIM) | Night blindness followed by complete blindness | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Macula clear in early stages | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Bone corpuscle-like pigmentation in equatorial and peripheral areas | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Molecular genetics OMIM |
Abid et al. (2006) screened 135 Pakistani patients with retinitis pigmentosa, 25 with cone-rod dystrophy (CORD10; 610283), and 30 with congenital blindness for mutations in the SEMA4A gene. They identified compound heterozygosity for 2 substitutions (607292.0001-607292.0002) in 2 ... |