Autosomal recessive childhood-onset cortical cataract
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CTRCT33 CATARACT 33, CORTICAL |
| Number of Symptoms | 2 |
| OrphanetNr: | 217046 |
| OMIM Id: |
611391
|
| ICD-10: |
H26.0 |
| 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 [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Early-onset non-syndromic cataract
-Rare eye disease -Rare genetic disease |
Symptom Information:
|
|
(HPO:0100019) | Cortical cataract | 3 / 7739 | ||||
|
|
(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 |
Ramachandran et al. (2007) examined 11 affected and 8 unaffected members of a large consanguineous Indian family segregating autosomal recessive juvenile-onset cortical cataract. Cataract was first documented at 5 years of age in all affected individuals but 1, ... |
| Molecular genetics OMIM |
In 11 affected and 8 unaffected members of a large consanguineous Indian family with juvenile-onset cortical cataract mapping to chromosome 20p, Ramachandran et al. (2007) sequenced the BFSP1 gene and identified homozygosity for a 3,343-bp deletion (603307.0001) in ... |