BFSP2 gene related symptoms and diseases

All the information presented here about the BFSP2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to BFSP2 gene

Symptoms // Phenotype % Cases
Cataract Very Common - Between 80% and 100% cases
Congenital cataract Very Common - Between 80% and 100% cases
Amblyopia Common - Between 50% and 80% cases
Blindness Uncommon - Between 30% and 50% cases
Lamellar cataract Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with BFSP2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Iris atrophy
  • Nuclear cataract
  • Microcornea
  • Photophobia
  • Progressive cataract
  • Nystagmus
  • Myopia
  • Sutural cataract

And 4 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to BFSP2 gene

Here you will find a list of rare diseases related to the BFSP2. 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

CATARACT 25; CTRCT25


Alternate names

CATARACT 25; CTRCT25 Is also known as ccsso, cataract, central pouch-like, with sutural opacities, cataract, central saccular, with sutural opacities

Most common symptoms of CATARACT 25; CTRCT25

  • Cataract
  • Congenital cataract


More info about CATARACT 25; CTRCT25

SOURCES: ORPHANET OMIM MESH

CATARACT 2, MULTIPLE TYPES; CTRCT2


Alternate names

CATARACT 2, MULTIPLE TYPES; CTRCT2 Is also known as cataract 2, multiple types, with or without microcornea, ccl, cataract, coppock-like

Description

Mutations in the CRYGC gene have been found to cause several types of cataract, which have been described as Coppock-like; embryonic, fetal, infantile nuclear; zonular pulverulent; and lamellar. Some patients also exhibit microcornea.Before it was known that mutations in the CRYGC gene cause several types of cataract, this entry was titled 'Cataract, Coppock-like,' with the symbol CCL.

Most common symptoms of CATARACT 2, MULTIPLE TYPES; CTRCT2

  • Nystagmus
  • Cataract
  • Blindness
  • Photophobia
  • Congenital cataract


More info about CATARACT 2, MULTIPLE TYPES; CTRCT2

SOURCES: ORPHANET OMIM


Potential gene panels for BFSP2 gene

Cataracts (NGS panel for 41 genes) Panel

Portugal.

By CGC Genetics Cataracts (NGS panel for 41 genes) that also includes the following genes: BFSP1 BFSP2 VIM WFS1 FYCO1 PXDN CHMP4B P3H2 AGK SLC16A12

More info about this panel

Cataract type 12 (sequence analysis of BFSP2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the BFSP2 gene.

More info about this panel

Congenital Cataracts Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Cataracts Sequencing Panel with CNV Detection that also includes the following genes: BFSP1 BFSP2 VIM FYCO1 PXDN CHMP4B P3H2 AGK SLC16A12 CRYAA

More info about this panel

Cataract Panel

Germany.

By MGZ Medical Genetics Center Cataract that also includes the following genes: BFSP1 BFSP2 SIX6 VIM WFS1 RAB18 FYCO1 JAM3 TBC1D20 CHMP4B

More info about this panel

Eye Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Eye Diseases - panels that also includes the following genes: BFSP1 BFSP2 SALL2 BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2

More info about this panel

Cataract panel Panel

Germany.

By Centogene AG - the Rare Disease Company Cataract panel that also includes the following genes: BFSP1 BFSP2 VIM WFS1 UNC45B FYCO1 CHMP4B P3H2 VSX2 BCOR

More info about this panel

Cataract Panel Panel

Germany.

By CeGaT GmbH Cataract Panel that also includes the following genes: BFSP1 BFSP2 VIM FYCO1 PXDN CHMP4B P3H2 BCOR AGK SLC16A12

More info about this panel

Single gene testing BFSP2 Panel

Germany.

By CeGaT GmbH

This panel specifically test the BFSP2 gene.

More info about this panel

Cataract Panel

Estonia.

By Asper Biogene Asper Biogene LLC Cataract that also includes the following genes: BFSP1 BFSP2 SIX6 VIM UNC45B FYCO1 PXDN CHMP4B P3H2 VSX2

More info about this panel

Eye diseases comprehensive panel Panel

Estonia.

By Asper Biogene Asper Biogene LLC Eye diseases comprehensive panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

Cataract, autosomal dominant, multiple types 1 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the BFSP2 gene.

More info about this panel

Cataract, autosomal dominant, multiple types 1 Panel

Slovakia.

By MedGene

This panel specifically test the BFSP2 gene.

More info about this panel

Invitae Congenital Cataracts Panel Panel

United States.

By Invitae Invitae Congenital Cataracts Panel that also includes the following genes: BFSP1 BFSP2 FYCO1 VSX2 BCOR AGK CRYAA CRYAB CRYBA1 CRYBB1

More info about this panel

BFSP2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the BFSP2 gene.

More info about this panel

Cataract Panel Panel

Finland.

By Blueprint Genetics Cataract Panel that also includes the following genes: BFSP1 BFSP2 TFAP2A VIM WFS1 WRN FYCO1 PXDN CHMP4B RAB3GAP1

More info about this panel

Congenital Cataracts , Panel Massive Sequencing (NGS) 40 Genes Panel

Spain.

By Reference Laboratory Genetics Congenital Cataracts , Panel Massive Sequencing (NGS) 40 Genes that also includes the following genes: BFSP1 BFSP2 VIM FYCO1 PXDN CHMP4B P3H2 AGK SLC16A12 CRYAA

More info about this panel


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