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
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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

SOURCES: MESH OMIM




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