CATARACT 37
General Information (adopted from Orphanet):
Synonyms, Signs: |
CTRCT37 CATARACT, CONGENITAL, CERULEAN TYPE, 5 CCA5 |
Number of Symptoms | 5 |
OrphanetNr: | |
OMIM Id: |
614422
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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:0000519) | Congenital cataract | 73 / 7739 | ||||
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(HPO:0007976) | Cerulean cataract | 3 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Cuneiform opacities in lens periphery | 1 / 7739 | ||||
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(OMIM) | Blue-white dots throughout lens, more numerous in cortex | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
Clinical Description OMIM |
Berry et al. (2011) examined 5 affected individuals from a 5-generation English family segregating autosomal dominant congenital cerulean cataract. Cataract was diagnosed at a mean age of 17 years, and patients underwent surgery at a mean age of ... |