BFSP2-AS1 gene related symptoms and diseases
All the information presented here about the BFSP2-AS1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to BFSP2-AS1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Cataract | Very Common - Between 80% and 100% cases |
| Myopia | Very Common - Between 80% and 100% cases |
| Reduced visual acuity | Very Common - Between 80% and 100% cases |
| Congenital cataract | Very Common - Between 80% and 100% cases |
| High myopia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with BFSP2-AS1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Amblyopia
- Cortical cataract
- Sutural cataract
- Progressive cataract
Rare diseases associated to BFSP2-AS1 gene
Here you will find a list of rare diseases related to the BFSP2-AS1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CATARACT 12, MULTIPLE TYPES; CTRCT12
Description
Mutations in the BFSP2 gene have been found to cause multiple types of cataract, which have been described as juvenile-onset lamellar, cortical, nuclear embryonic; and congenital nuclear, sutural, stellate, Y-sutural, and punctate cortical.
Most common symptoms of CATARACT 12, MULTIPLE TYPES; CTRCT12
- Cataract
- Myopia
- Reduced visual acuity
- Congenital cataract
- High myopia
More info about CATARACT 12, MULTIPLE TYPES; CTRCT12
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