P3H2 gene related symptoms and diseases

All the information presented here about the P3H2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to P3H2 gene

Symptoms // Phenotype % Cases
Cataract Uncommon - Between 30% and 50% cases
Visual impairment Uncommon - Between 30% and 50% cases
Myopia Uncommon - Between 30% and 50% cases
Blindness Uncommon - Between 30% and 50% cases
Coloboma Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with P3H2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Retinal detachment
  • High myopia
  • Vitreoretinopathy
  • Lens subluxation
  • Epiretinal membrane
  • Aphakia
  • Lens coloboma
  • Axial myopia

And 1 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to P3H2 gene

Here you will find a list of rare diseases related to the P3H2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION; MCVD


Most common symptoms of MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION; MCVD

  • Cataract
  • Visual impairment
  • Myopia
  • Blindness
  • Coloboma


More info about MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION; MCVD

SOURCES: OMIM

RARE ISOLATED MYOPIA


Description

Rare isolated myopia is a rare, genetic, refraction anomaly disorder characterized by non-syndromic severe myopia, which may be associated with cataract and vitreoretinal degeneration (retinal detachment) that may lead to blindness.


More info about RARE ISOLATED MYOPIA

SOURCES: ORPHANET


Potential gene panels for P3H2 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

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

Stickler Syndrome / High Myopia Panel

Germany.

By MGZ Medical Genetics Center Stickler Syndrome / High Myopia that also includes the following genes: P3H2 COL11A1 COL18A1 COL5A1 COL5A2 COL9A1 COL9A2 COL9A3 VCAN FBN1

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

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

LEPREL1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the P3H2 gene.

More info about this panel

P3H2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the P3H2 gene.

More info about this panel

Vitreoretinopathy Panel Panel

Finland.

By Blueprint Genetics Vitreoretinopathy Panel that also includes the following genes: RS1 BEST1 ATOH7 CAPN5 P3H2 ZNF408 TSPAN12 COL11A1 COL11A2 COL18A1

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

Ectopia Lentis Panel Panel

Finland.

By Blueprint Genetics Ectopia Lentis Panel that also includes the following genes: SUOX ADAMTS10 CBS ADAMTS17 AASS PORCN P3H2 ADAMTSL4 VSX2 BCOR

More info about this panel

VITREORETINOPATHY NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL VITREORETINOPATHY NGS PANEL that also includes the following genes: BEST1 CAPN5 P3H2 ZNF408 TSPAN12 VCAN CTNNB1 FZD4 KCNJ13 LRP5

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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