CATARACT 30
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CATARACT 30, PULVERULENT CTRCT30 |
| Number of Symptoms | 3 |
| OrphanetNr: | |
| OMIM Id: |
116300
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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:0007657) | Diffuse nuclear cataract | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Cataract, nuclear diffuse nonprogressive | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM | Muller et al. (2009) screened 90 patients suffering from various types of cataract for mutations in the VIM gene. They identified a mutation (see MOLECULAR GENETICS) in only 1 patient, a 45-year-old female with pulverulent (dust-like) opacities. |
| Molecular genetics OMIM |
In a 45-year-old woman with pulverulent cataracts, Muller et al. (2009) identified a heterozygous missense mutation (E151K) in the VIM gene (193060.0001). The patient's mother also had cataracts. The mutation was not found in 192 healthy control individuals. ... |