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.
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
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
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
Search interest in GUCA1A
Potential gene panels for GUCA1A gene
MitoMet®Plus aCGH Analysis Panel
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 panelCone-Rod Dystrophy Panel Panel
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 panelCone-rod dystrophy 14 (sequence analysis of GUCA1A gene) Panel
By CGC Genetics
This panel specifically test the GUCA1A gene.
More info about this panelCone-rod dystrophy (NGS panel of 36 genes) Panel
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 panelAutosomal Dominant Cone Dystrophy 3 (COD3) and Cone-Rod Dystrophy 14 (CRD14) via GUCA1A Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the GUCA1A gene.
More info about this panelCone-Rod Dystrophy Sequencing Panel with CNV Detection Panel
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 panelComprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel
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 panelCone-rod dystrophy type 14 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the GUCA1A gene.
More info about this panelCone Rod Dystrophies Panel Panel
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 panelSingle gene testing GUCA1A Panel
By CeGaT GmbH
This panel specifically test the GUCA1A gene.
More info about this panelCone-Rod Dystrophy Panel
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 panelEye diseases comprehensive panel Panel
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 panelRetinal Dystrophy Panel Panel
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 panelCone Rod Dystrophy panel Panel
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 panelGUCA1A single gene sequencing Panel
By Molecular Vision Laboratory
This panel specifically test the GUCA1A gene.
More info about this panelMVL Vision Panel Panel
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 panelCone-Rod dystrophy type 14: GUCA1A gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the GUCA1A gene.
More info about this panelCone rod dystrophy Panel
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 panelAchromatopsia, Cone, and Cone-rod Dystrophy: Sequencing Panel Panel
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 panelEye Disorders: Comprehensive Sequencing Panel Panel
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 panelRetina/Photoreceptor Dystrophy: Sequencing Panel Panel
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 panelAchromatopsia, Cone, and Cone-rod Dystrophy: Deletion/Duplication Panel Panel
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 panelEye Disorders: Deletion/Duplication Panel Panel
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 panelEye Disorders NGS Panel Panel
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 panelCone-Rod Dystrophy NGS Panel Panel
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 panelGUCA1A Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GUCA1A gene.
More info about this panelRetinal Dystrophy Panel Panel
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 panelCone Rod Dystrophy Panel Panel
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 panelCone dystrophy Panel
By Bioarray
This panel specifically test the GUCA1A gene.
More info about this panelCONE-ROD DYSTROPHY (AUTOSOMAL DOMINANT) Panel
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 panelCONE-ROD DYSTROPHY Panel
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 panelCone Rod Distrophy , Panel Massive Sequencing (NGS) 30 Genes Panel
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
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