CATARACT 31, MULTIPLE TYPES
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CATARACT, POSTERIOR POLAR, 3 CTRCT31 CPP3 CTPP3 |
| Number of Symptoms | 2 |
| OrphanetNr: | |
| OMIM Id: |
605387
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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:0007787) | Posterior subcapsular cataract | 17701905 | IBIS | 20 / 7739 | ||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
Mutations in the CHMP4B gene have been found to cause multiple types of cataract, which have been described as posterior polar, progressive posterior subcapsular, nuclear, and anterior subcapsular. The preferred title/symbol of this entry was formerly ... |
| Clinical Description OMIM |
Yamada et al. (2000) described a Japanese family in which 10 members in 4 generations were affected with autosomal dominant posterior polar cataract. The cataract was characterized by progressive, disc-shaped, posterior subcapsular opacity. Shiels et al. ... |
| Molecular genetics OMIM |
Since the BFSP1 gene (603307), which encodes the lens-specific beaded filament structural protein-1, maps to the same region, Yamada et al. (2000) performed sequence analysis on its entire coding region, but found no base substitutions or deletions in ... |