GRK1 gene related symptoms and diseases
All the information presented here about the GRK1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to GRK1 gene
Symptoms // Phenotype | % Cases |
---|---|
Blindness | Very Common - Between 80% and 100% cases |
Congenital stationary night blindness | Very Common - Between 80% and 100% cases |
Nyctalopia | Very Common - Between 80% and 100% cases |
Hemeralopia | Common - Between 50% and 80% cases |
Mizuo phenomenon | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with GRK1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- External ophthalmoplegia
- Complete congenital stationary night blindness
- Moderate myopia
- Hypertropia
- Abnormal fundus morphology
- Monochromacy
- Optic disc hypoplasia
- Abnormality of macular pigmentation
And 13 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to GRK1 gene
Here you will find a list of rare diseases related to the GRK1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
OGUCHI DISEASE
Alternate names
OGUCHI DISEASE Is also known as oguchi syndrome, csnbo1, night blindness, congenital stationary, oguchi type 1, congenital stationary night blindness, oguchi type
Description
Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness (see this term) and the Mizuo-Nakamura phenomenon.
Most common symptoms of OGUCHI DISEASE
- Blindness
- Nyctalopia
- Macular degeneration
- Congenital stationary night blindness
- Hemeralopia
More info about OGUCHI DISEASE
OGUCHI DISEASE 2
Alternate names
OGUCHI DISEASE 2 Is also known as night blindness, congenital stationary, oguchi type 2, csnbo2
Description
Oguchi disease is a rare autosomal recessive form of congenital stationary night blindness in which all other visual functions, including visual acuity, visual field, and color vision, are usually normal. A typical feature of the disease is a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and reappears shortly after the onset of light (Mizuo phenomenon). The course of dark adaptation of rod photoreceptors is extremely retarded, whereas that of cones appears to proceed normally (summary by Fuchs et al., 1995).For a general description and a discussion of genetic heterogeneity of Oguchi disease, see CSNBO1 (OMIM ).
Most common symptoms of OGUCHI DISEASE 2
- Blindness
- Nyctalopia
- Congenital stationary night blindness
- Mizuo phenomenon
More info about OGUCHI DISEASE 2
SOURCES: OMIM
CONGENITAL STATIONARY NIGHT BLINDNESS
Alternate names
CONGENITAL STATIONARY NIGHT BLINDNESS Is also known as hemeralopia-myopia, myopia-night blindness, night blindness, congenital stationary, with myopia, csnb, complete, x-linked, nbm1, congenital essential nyctalopia
Description
Congenital stationary night blindness (CSNB) refers to a non-progressive group of retinal disorders characterized by night or dim light vision disturbance or delayed dark adaptation, poor visual acuity (ranging from 20/30 to 20/200), myopia (ranging from low (-0.25 diopters [D] to -4.75 D) to high (≥-10.00 D)), nystagmus, strabismus, normal color vision and fundus abnormalities.
Most common symptoms of CONGENITAL STATIONARY NIGHT BLINDNESS
- Nystagmus
- Strabismus
- Myopia
- Blindness
- Reduced visual acuity
More info about CONGENITAL STATIONARY NIGHT BLINDNESS
Search interest in GRK1
Potential gene panels for GRK1 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 panelCongenital Stationary Night Blindness Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Congenital Stationary Night Blindness Panel that also includes the following genes: RHO GRK1 SAG SLC24A1 CABP4 CACNA1F LRIT3 GPR179 GNAT1 GNB3
More info about this panelGRK1. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the GRK1 gene.
More info about this panelOguchi disease 2 (sequence analysis of GRK1 gene) Panel
By CGC Genetics
This panel specifically test the GRK1 gene.
More info about this panelNight blindness, congenital stationary (NGS panel of 13 genes) Panel
By CGC Genetics Night blindness, congenital stationary (NGS panel of 13 genes) that also includes the following genes: RHO GRK1 SAG SLC24A1 CACNA1F LRIT3 GPR179 GNAT1 GNB3 GRM6
More info about this panelNight blindness, congenital stationary (NGS panel of 13 genes) Panel
By CGC Genetics Night blindness, congenital stationary (NGS panel of 13 genes) that also includes the following genes: RHO GRK1 SAG SLC24A1 CACNA1F LRIT3 GPR179 GNAT1 GNB3 GRM6
More info about this panelCongenital Stationary Night Blindness Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Congenital Stationary Night Blindness Sequencing Panel with CNV Detection that also includes the following genes: RHO GRK1 RPE65 SAG SLC24A1 CABP4 CACNA1F CHM CACNA2D4 LRIT3
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 panelOguchi disease Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the GRK1 gene.
More info about this panelCongenital Stationary Night Blindness Panel Panel
By CeGaT GmbH Congenital Stationary Night Blindness Panel that also includes the following genes: RHO GRK1 SAG SLC24A1 CABP4 CACNA1F CACNA2D4 LRIT3 GPR179 GNAT1
More info about this panelAutosomal Recessive Retinitis Pigmentosa Panel
By Asper Biogene Asper Biogene LLC Autosomal Recessive Retinitis Pigmentosa that also includes the following genes: RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG
More info about this panelCongenital Stationary Night Blindness Panel
By Asper Biogene Asper Biogene LLC Congenital Stationary Night Blindness that also includes the following genes: RHO GRK1 SAG CABP4 CACNA1F GNAT1 GRM6 TRPM1 NYX PDE6B
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 panelCongenital Stationary Night Blindness panel Panel
By Molecular Vision Laboratory Congenital Stationary Night Blindness panel that also includes the following genes: RHO GRK1 SAG SLC24A1 CABP4 CACNA1F LRIT3 GPR179 GNAT1 GRM6
More info about this panelGRK1 single gene sequencing Panel
By Molecular Vision Laboratory
This panel specifically test the GRK1 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 panelGRK1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GRK1 gene.
More info about this panelCongenital Stationary Night Blindness Panel Panel
By Blueprint Genetics Congenital Stationary Night Blindness Panel that also includes the following genes: RHO GRK1 RLBP1 RPE65 SAG CABP4 CACNA1F CACNA2D4 CYP4V2 LRIT3
More info about this panelOguchi disease-1 Panel
By Bioarray
This panel specifically test the GRK1 gene.
More info about this panelOGUCHI DISEASE Panel
By Laboratorio de Genetica Clinica SL OGUCHI DISEASE that also includes the following genes: GRK1 SAG
More info about this panelNIGHT BLINDNESS, CONGENITAL STATIONARY (AUTOSOMAL RECESSIVE) Panel
By Laboratorio de Genetica Clinica SL NIGHT BLINDNESS, CONGENITAL STATIONARY (AUTOSOMAL RECESSIVE) that also includes the following genes: GRK1 SAG SLC24A1 CABP4 GRM6 TRPM1
More info about this panelRETINITIS PIGMENTOSA (AUTOSOMAL RECESSIVE) Panel
By Laboratorio de Genetica Clinica SL RETINITIS PIGMENTOSA (AUTOSOMAL RECESSIVE) that also includes the following genes: GRK1 RPE65 SAG USH2A EYS CERKL CRB1 ABCA4 PDE6A PDE6B
More info about this panelNIGHT BLINDNESS, CONGENITAL STATIONARY NGS PANEL Panel
By Laboratorio de Genetica Clinica SL NIGHT BLINDNESS, CONGENITAL STATIONARY NGS PANEL that also includes the following genes: RHO GRK1 SAG SLC24A1 CABP4 CACNA1F CACNA2D4 LRIT3 GPR179 GNAT1
More info about this panelRetinitis Pigmentosa, Sequencing GRK1 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the GRK1 gene.
More info about this panelCongenital Stationary Night Blindness , Panel Massive Sequencing (NGS) 13 Genes Panel
By Reference Laboratory Genetics Congenital Stationary Night Blindness , Panel Massive Sequencing (NGS) 13 Genes that also includes the following genes: RHO GRK1 SAG SLC24A1 CABP4 CACNA1F GPR179 GNAT1 GRM6 TRPM1
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