GUCA1A gene related symptoms and diseases

All the information presented here about the GUCA1A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to GUCA1A gene

Symptoms // Phenotype % Cases
Retinal degeneration Common - Between 50% and 80% cases
Photophobia Common - Between 50% and 80% cases
Abnormality of color vision Uncommon - Between 30% and 50% cases
Visual loss Uncommon - Between 30% and 50% cases
Nyctalopia Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with GUCA1A gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Progressive visual loss
  • Cone/cone-rod dystrophy
  • Progressive cone degeneration
  • Visual impairment
  • Abnormality of retinal pigmentation
  • Rarely - Less than 30% cases

  • Nystagmus
  • Abnormal retinal morphology
  • Bull's eye maculopathy

And 8 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to GUCA1A gene

Here you will find a list of rare diseases related to the GUCA1A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CONE DYSTROPHY 3; COD3


Alternate names

CONE DYSTROPHY 3; COD3 Is also known as retinal cone dystrophy

Description

Progressive cone dystrophy usually presents in childhood or early adult life, with many patients developing rod photoreceptor involvement in later life, thereby leading to considerable overlap between progressive cone dystrophy and cone-rod dystrophy. Both progressive cone dystrophy and cone-rod dystrophy have been associated with mutation in the GUCA1A gene (Michaelides et al., 2006).Intrafamilial variability in GUCA1A-associated macular disease ranges from mild photoreceptor degeneration to central areolar choroidal dystrophy (CACD), a form of retinal degeneration that primarily involves the macula and is characterized by a well-defined atrophic region of retinal pigment epithelium and choriocapillaris in the latest stage (Chen et al., 2017).

Most common symptoms of CONE DYSTROPHY 3; COD3

  • Nystagmus
  • Blindness
  • Visual loss
  • Reduced visual acuity
  • Photophobia


More info about CONE DYSTROPHY 3; COD3

SOURCES: OMIM

CONE ROD DYSTROPHY


Alternate names

CONE ROD DYSTROPHY Is also known as human retinal gene 4, hrg4

Description

Cone rod dystrophies (CRDs) are inherited retinal dystrophies that belong to the group of pigmentary retinopathies.

Most common symptoms of CONE ROD DYSTROPHY

  • Visual impairment
  • Photophobia
  • Nyctalopia
  • Retinal degeneration
  • Abnormality of retinal pigmentation


More info about CONE ROD DYSTROPHY

SOURCES: ORPHANET OMIM

PROGRESSIVE CONE DYSTROPHY


Alternate names

PROGRESSIVE CONE DYSTROPHY Is also known as cone dystrophy, autosomal dominant, cone dystrophy, retinal cone degeneration

Most common symptoms of PROGRESSIVE CONE DYSTROPHY

  • Visual impairment
  • Photophobia
  • Retinal degeneration
  • Progressive visual loss
  • Abnormality of retinal pigmentation


More info about PROGRESSIVE CONE DYSTROPHY

SOURCES: MESH ORPHANET OMIM

CENTRAL AREOLAR CHOROIDAL DYSTROPHY


Alternate names

CENTRAL AREOLAR CHOROIDAL DYSTROPHY Is also known as choroidal dystrophy, central areolar, choroidal sclerosis, cacd, central areolar choroidal sclerosis, areolar atrophy of the macula

Description

Central areolar choroidal dystrophy (CACD) is a hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity.

Most common symptoms of CENTRAL AREOLAR CHOROIDAL DYSTROPHY

  • Visual loss
  • Abnormal retinal morphology
  • Choriocapillaris atrophy


More info about CENTRAL AREOLAR CHOROIDAL DYSTROPHY

SOURCES: OMIM ORPHANET


Potential gene panels for GUCA1A gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

More info about this panel

Cone-Rod Dystrophy Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Cone-Rod Dystrophy Panel that also includes the following genes: RPGR CNNM4 SEMA4A TULP1 CFAP410 BEST1 RPGRIP1 CACNA1F CDHR1 RIMS1

More info about this panel

Cone-rod dystrophy 14 (sequence analysis of GUCA1A gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the GUCA1A gene.

More info about this panel

Cone-rod dystrophy (NGS panel of 36 genes) Panel

Portugal.

By CGC Genetics Cone-rod dystrophy (NGS panel of 36 genes) that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A BEST1 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1

More info about this panel

Autosomal Dominant Cone Dystrophy 3 (COD3) and Cone-Rod Dystrophy 14 (CRD14) via GUCA1A Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the GUCA1A gene.

More info about this panel

Cone-Rod Dystrophy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Cone-Rod Dystrophy Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A CFAP410 BEST1 RPGRIP1 CABP4 CACNA1F CDHR1

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

Cone-rod dystrophy type 14 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the GUCA1A gene.

More info about this panel

Cone Rod Dystrophies Panel Panel

Germany.

By CeGaT GmbH Cone Rod Dystrophies Panel that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A CFAP410 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1

More info about this panel

Single gene testing GUCA1A Panel

Germany.

By CeGaT GmbH

This panel specifically test the GUCA1A gene.

More info about this panel

Cone-Rod Dystrophy Panel

Estonia.

By Asper Biogene Asper Biogene LLC Cone-Rod Dystrophy that also includes the following genes: RPGR CNNM4 SEMA4A BEST1 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1 RAX2

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

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

Cone Rod Dystrophy panel Panel

United States.

By Molecular Vision Laboratory Cone Rod Dystrophy panel that also includes the following genes: RPGR CNNM4 SEMA4A CFAP410 RPGRIP1 CACNA1F CDHR1 RIMS1 RAX2 KCNV2

More info about this panel

GUCA1A single gene sequencing Panel

United States.

By Molecular Vision Laboratory

This panel specifically test the GUCA1A gene.

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

Cone-Rod dystrophy type 14: GUCA1A gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the GUCA1A gene.

More info about this panel

Cone rod dystrophy Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Cone rod dystrophy that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A BEST1 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1

More info about this panel

Achromatopsia, Cone, and Cone-rod Dystrophy: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Achromatopsia, Cone, and Cone-rod Dystrophy: Sequencing Panel that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A BEST1 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1

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

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

Achromatopsia, Cone, and Cone-rod Dystrophy: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Achromatopsia, Cone, and Cone-rod Dystrophy: Deletion/Duplication Panel that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A BEST1 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1

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

Cone-Rod Dystrophy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Cone-Rod Dystrophy NGS Panel that also includes the following genes: CNNM4 SEMA4A BEST1 RPGRIP1 CACNA1F CDHR1 RIMS1 RAX2 KCNV2 CACNA2D4

More info about this panel

GUCA1A Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GUCA1A 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

Cone Rod Dystrophy Panel Panel

Finland.

By Blueprint Genetics Cone Rod Dystrophy Panel that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A CFAP410 BEST1 RPGRIP1 CABP4 CACNA1F CDHR1

More info about this panel

Cone dystrophy Panel

Spain.

By Bioarray

This panel specifically test the GUCA1A gene.

More info about this panel

CONE-ROD DYSTROPHY (AUTOSOMAL DOMINANT) Panel

Spain.

By Laboratorio de Genetica Clinica SL CONE-ROD DYSTROPHY (AUTOSOMAL DOMINANT) that also includes the following genes: CRX AIPL1 GUCA1A GUCY2D

More info about this panel

CONE-ROD DYSTROPHY Panel

Spain.

By Laboratorio de Genetica Clinica SL CONE-ROD DYSTROPHY that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A BEST1 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1

More info about this panel

Cone Rod Distrophy , Panel Massive Sequencing (NGS) 30 Genes Panel

Spain.

By Reference Laboratory Genetics Cone Rod Distrophy , Panel Massive Sequencing (NGS) 30 Genes that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A BEST1 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1

More info about this panel


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