CAPN5 gene related symptoms and diseases

All the information presented here about the CAPN5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CAPN5 gene

Symptoms // Phenotype % Cases
Cataract Very Common - Between 80% and 100% cases
Vitreoretinopathy Very Common - Between 80% and 100% cases
Large hyperpigmented retinal spots Very Common - Between 80% and 100% cases
Peripheral retinal neovascularization Very Common - Between 80% and 100% cases
Iris neovascularization Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CAPN5 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Leakage of dye on fundus fluorescein angiography
  • Tractional retinal detachment
  • Epiretinal membrane
  • Cystoid macular edema
  • Vitreous hemorrhage
  • Inflammatory abnormality of the eye
  • Macular edema
  • Uveitis

And 13 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CAPN5 gene

Here you will find a list of rare diseases related to the CAPN5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AUTOSOMAL DOMINANT NEOVASCULAR INFLAMMATORY VITREORETINOPATHY


Alternate names

AUTOSOMAL DOMINANT NEOVASCULAR INFLAMMATORY VITREORETINOPATHY Is also known as adniv, pvr, vitreoretinopathy, neovascular inflammatory, autosomal dominant, proliferative vitreoretinopathy

Description

Autosomal dominant neovascular inflammatory vitreoretinopathy is a rare, genetic, vitreoretinal degeneration characterized by a slowly progressive vitreoretinopathy with onset during the second or third decade of life. The disease initially presents as autoimmune uveitis with reduction in the b-wave on electroretinography, and progresses with development of photoreceptor degeneration, vitreous hemorrhage, cystoid macular edema, retinal neovascularization, intraocular fibrosis, secondary glaucoma, and retinal detachment leading to phthisis and complete blindness.

Most common symptoms of AUTOSOMAL DOMINANT NEOVASCULAR INFLAMMATORY VITREORETINOPATHY

  • Cataract
  • Edema
  • Blindness
  • Visual loss
  • Rod-cone dystrophy


More info about AUTOSOMAL DOMINANT NEOVASCULAR INFLAMMATORY VITREORETINOPATHY

SOURCES: ORPHANET OMIM


Potential gene panels for CAPN5 gene

Comprehensive Vitreoretinopathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Vitreoretinopathy Sequencing Panel with CNV Detection that also includes the following genes: ATOH7 CAPN5 RCBTB1 ATP6V0A2 ZNF408 TSPAN12 VCAN CTNNB1 ISPD FZD4

More info about this panel

Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

Vitreoretinopathy, Neovascular Inflammatory via CAPN5 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the CAPN5 gene.

More info about this panel

Exudative vitreoretinopathy Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Exudative vitreoretinopathy Deletion / Duplication panel that also includes the following genes: CAPN5 ZNF408 TSPAN12 FZD4 KIF11 LRP5 NDP

More info about this panel

Exudative vitreoretinopathy Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Exudative vitreoretinopathy Comprehensive panel that also includes the following genes: CAPN5 ZNF408 TSPAN12 FZD4 KIF11 LRP5 NDP

More info about this panel

Exudative vitreoretinopathy NGS panel Panel

United States.

By Connective Tissue Gene Tests Exudative vitreoretinopathy NGS panel that also includes the following genes: CAPN5 ZNF408 TSPAN12 FZD4 KIF11 LRP5 NDP

More info about this panel

Vitreoretinopathy Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Vitreoretinopathy Comprehensive panel that also includes the following genes: RS1 BEST1 CAPN5 ZNF408 TSPAN12 COL11A1 COL11A2 COL18A1 COL9A1 COL9A2

More info about this panel

Vitreoretinopathy Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Vitreoretinopathy Deletion / Duplication panel that also includes the following genes: RS1 BEST1 CAPN5 ZNF408 TSPAN12 COL11A1 COL11A2 COL18A1 COL9A1 COL9A2

More info about this panel

Vitreoretinopathy NGS panel Panel

United States.

By Connective Tissue Gene Tests Vitreoretinopathy NGS panel that also includes the following genes: RS1 BEST1 CAPN5 ZNF408 TSPAN12 COL11A1 COL11A2 COL18A1 COL9A1 COL9A2

More info about this panel

Familial Exudative Vitreoretinopathy and Wagner syndrome Panel Panel

Germany.

By CeGaT GmbH Familial Exudative Vitreoretinopathy and Wagner syndrome Panel that also includes the following genes: CAPN5 ZNF408 TSPAN12 VCAN FZD4 LRP5 NDP

More info about this panel

Vitreoretinopathy Panel

Estonia.

By Asper Biogene Asper Biogene LLC Vitreoretinopathy that also includes the following genes: RS1 BEST1 CAPN5 ZNF408 TSPAN12 COL11A1 COL11A2 COL18A1 COL9A1 COL9A2

More info about this panel

Vitreoretinopathy panel Panel

United States.

By Molecular Vision Laboratory Vitreoretinopathy panel that also includes the following genes: ATOH7 CAPN5 ZNF408 TSPAN12 COL11A1 COL11A2 COL18A1 COL4A3 COL4A4 COL4A5

More info about this panel

CAPN5 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CAPN5 gene.

More info about this panel

Retinal Dystrophy Panel Panel

Finland.

By Blueprint Genetics Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 CNNM4

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

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


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