VCAN gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to VCAN gene

Symptoms // Phenotype % Cases
Cataract Uncommon - Between 30% and 50% cases
Vitreoretinopathy Uncommon - Between 30% and 50% cases
Peripheral tractional retinal detachment Uncommon - Between 30% and 50% cases
Erosive vitreoretinopathy Uncommon - Between 30% and 50% cases
Optically empty vitreous Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

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

  • Moderate myopia
  • Rhegmatogenous retinal detachment
  • Vitreous floaters
  • Presenile cataracts
  • Mild myopia
  • Chorioretinal dystrophy
  • Exudative vitreoretinopathy
  • Retinal pigment epithelial atrophy

And 15 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to VCAN gene

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


WAGNER DISEASE


Alternate names

WAGNER DISEASE Is also known as wagner syndrome, dominant hyaloideoretinal dystrophy of wagner, vitreoretinal degeneration, wagner type, vcan-related vitreoretinopathy

Description

Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment.


More info about WAGNER DISEASE

SOURCES: ORPHANET

WAGNER VITREORETINOPATHY; WGVRP


Alternate names

WAGNER VITREORETINOPATHY; WGVRP Is also known as erosive vitreoretinopathy, wagner syndrome 1, wagner vitreoretinal degeneration, hyaloideoretinal degeneration of wagner, wgn1, ervr

Description

Wagner vitreoretinopathy is a rare vitreoretinal degeneration inherited as an autosomal dominant trait, first described in a large Swiss pedigree (Wagner, 1938) and subsequently identified in other families. Penetrance in Wagner syndrome is complete, and the disease manifests in childhood or adolescence with a progressive course. Affected individuals usually present with an 'empty' vitreous cavity with fibrillary condensation or avascular strands and veils. Additional features, which are variable and age-dependent, include chorioretinal atrophy with loss of the retinal pigment epithelium (RPE), lattice degeneration of the retina, complicated cataracts, mild myopia, and peripheral traction retinal detachment. Rod and cone electroretinography shows reduced b-wave amplitude and correlates with severe chorioretinal pathology. It is believed that liquefaction of vitreous initiates a degenerative cascade that results in the complex eye phenotype of Wagner syndrome (summary by Kloeckener-Gruissem et al., 2006). Patients with additional ocular features such as progressive nyctalopia (night blindness), visual field constriction, and chorioretinal atrophy, with loss of RPE and choriocapillaries on fluorescein angiography and rod-cone abnormalities on electroretinography, were initially believed to have a distinct clinical entity, which was designated 'erosive vitreoretinopathy' (ERVR). Extraocular abnormalities are not present in patients diagnosed with Wagner or erosive vitreoretinopathy (summary by Mukhopadhyay et al., 2006).

Most common symptoms of WAGNER VITREORETINOPATHY; WGVRP

  • Cataract
  • Visual impairment
  • Myopia
  • Optic atrophy
  • Blindness


More info about WAGNER VITREORETINOPATHY; WGVRP

SOURCES: OMIM


Potential gene panels for VCAN gene

Wagner syndrome (sequence analysis of VCAN gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the VCAN gene.

More info about this panel

Wagner Syndrome via VCAN Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the VCAN gene.

More info about this panel

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

Stickler Syndrome Sequencing Panel Panel

United States.

By PreventionGenetics PreventionGenetics Stickler Syndrome Sequencing Panel that also includes the following genes: LOXL3 COL11A1 COL11A2 COL9A1 COL9A2 COL9A3 VCAN LRP2

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

Stickler syndrome Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Stickler syndrome Comprehensive panel that also includes the following genes: LOXL3 COL11A1 COL11A2 COL9A1 COL9A2 COL9A3 VCAN

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

Stickler syndrome Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Stickler syndrome Deletion / Duplication panel that also includes the following genes: LOXL3 COL11A1 COL11A2 COL9A1 COL9A2 COL9A3 VCAN

More info about this panel

Stickler syndrome NGS panel Panel

United States.

By Connective Tissue Gene Tests Stickler syndrome NGS panel that also includes the following genes: LOXL3 COL11A1 COL11A2 COL9A1 COL9A2 COL9A3 VCAN

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

Wagner vitreoretinopathy Deletion / Duplication test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the VCAN gene.

More info about this panel

Wagner vitreoretinopathy Sequencing test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the VCAN gene.

More info about this panel

Wagner vitreoretinopathy Comprehensive test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the VCAN gene.

More info about this panel

Ectopia Lentis Panel

Germany.

By MGZ Medical Genetics Center Ectopia Lentis that also includes the following genes: ADAMTS10 CBS ADAMTS17 ADAMTSL4 COL11A1 COL18A1 VCAN FBN1 ASPH

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

Wagner syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the VCAN gene.

More info about this panel

Vitreoretinopathy and Wagner syndrome panel Panel

Germany.

By Centogene AG - the Rare Disease Company Vitreoretinopathy and Wagner syndrome panel that also includes the following genes: TSPAN12 VCAN FZD4 LRP5 NDP

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

Single gene testing VCAN Panel

Germany.

By CeGaT GmbH

This panel specifically test the VCAN gene.

More info about this panel

Test for VCAN-Related Vitreoretinopathy Panel

United Kingdom.

By All Wales Genetics Laboratory Institute of Medical Genetics

This panel specifically test the VCAN gene.

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

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

Retinal Dystrophy Panel Panel

United States.

By Molecular Vision Laboratory Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

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

MVL Vision Panel Panel

United States.

By Molecular Vision Laboratory MVL Vision Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

Wagner, Syndrome: VCAN gene mutation analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the VCAN gene.

More info about this panel

Vitreoretinopathy and Wagner syndrome Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Vitreoretinopathy and Wagner syndrome that also includes the following genes: TSPAN12 VCAN FZD4 LRP5 NDP

More info about this panel

NGS panel - Stickler syndrome and related disorders Panel

Netherlands.

By Genome Diagnostics VU University Medical Center NGS panel - Stickler syndrome and related disorders that also includes the following genes: SLC26A2 COL11A1 COL11A2 COL9A1 COL9A2 COL9A3 VCAN

More info about this panel

Eye Disorders: Comprehensive Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Comprehensive Sequencing Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1

More info about this panel

Vitreoretinopathy: Sequencing and Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Vitreoretinopathy: Sequencing and Deletion/Duplication Panel that also includes the following genes: TSPAN12 COL11A1 COL9A1 VCAN FZD4 KCNJ13 LRP5 NDP

More info about this panel

Retina/Photoreceptor Dystrophy: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Retina/Photoreceptor Dystrophy: Sequencing Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR CNNM4

More info about this panel

Eye Disorders: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Deletion/Duplication Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1

More info about this panel

Eye Disorders NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Eye Disorders NGS Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR CNNM4

More info about this panel

Vitreoretinopathy and Wagner Syndrome NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Vitreoretinopathy and Wagner Syndrome NGS Panel that also includes the following genes: TSPAN12 VCAN FZD4 LRP5 NDP

More info about this panel

VCAN Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the VCAN gene.

More info about this panel

Marfan Syndrome Panel Panel

Finland.

By Blueprint Genetics Marfan Syndrome Panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ADAMTS10 SLC2A10 CBS

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

Stickler Syndrome Panel Panel

Finland.

By Blueprint Genetics Stickler Syndrome Panel that also includes the following genes: COL11A1 COL11A2 COL9A1 COL9A2 COL9A3 VCAN LRP2

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

WAGNER SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the VCAN gene.

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

Wagner Syndrome , Sequencing VCAN Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the VCAN gene.

More info about this panel

Wagner Syndrome , Screening Frequent Mutations VCAN Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the VCAN gene.

More info about this panel

Familial Exudative Vitreoretinopathy and Wagner Syndrome , Panel Massive Sequencing (NGS) 5 Genes Panel

Spain.

By Reference Laboratory Genetics Familial Exudative Vitreoretinopathy and Wagner Syndrome , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: TSPAN12 VCAN FZD4 LRP5 NDP

More info about this panel

VCAN-Related Vitreoretinopathy: gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the VCAN gene.

More info about this panel


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