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.

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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

SOURCES: ORPHANET OMIM

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

SOURCES: ORPHANET OMIM


Potential gene panels for GRK1 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

Congenital Stationary Night Blindness Panel Panel

United States.

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 panel

GRK1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the GRK1 gene.

More info about this panel

Oguchi disease 2 (sequence analysis of GRK1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the GRK1 gene.

More info about this panel

Night blindness, congenital stationary (NGS panel of 13 genes) Panel

Portugal.

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 panel

Night blindness, congenital stationary (NGS panel of 13 genes) Panel

Portugal.

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 panel

Congenital Stationary Night Blindness Sequencing Panel with CNV Detection Panel

United States.

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 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

Oguchi disease Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the GRK1 gene.

More info about this panel

Congenital Stationary Night Blindness Panel Panel

Germany.

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 panel

Autosomal Recessive Retinitis Pigmentosa Panel

Estonia.

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 panel

Congenital Stationary Night Blindness Panel

Estonia.

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 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

Congenital Stationary Night Blindness panel Panel

United States.

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 panel

GRK1 single gene sequencing Panel

United States.

By Molecular Vision Laboratory

This panel specifically test the GRK1 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

GRK1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GRK1 gene.

More info about this panel

Congenital Stationary Night Blindness Panel Panel

Finland.

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 panel

Oguchi disease-1 Panel

Spain.

By Bioarray

This panel specifically test the GRK1 gene.

More info about this panel

OGUCHI DISEASE Panel

Spain.

By Laboratorio de Genetica Clinica SL OGUCHI DISEASE that also includes the following genes: GRK1 SAG

More info about this panel

NIGHT BLINDNESS, CONGENITAL STATIONARY (AUTOSOMAL RECESSIVE) Panel

Spain.

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 panel

RETINITIS PIGMENTOSA (AUTOSOMAL RECESSIVE) Panel

Spain.

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 panel

NIGHT BLINDNESS, CONGENITAL STATIONARY NGS PANEL Panel

Spain.

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 panel

Retinitis Pigmentosa, Sequencing GRK1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the GRK1 gene.

More info about this panel

Congenital Stationary Night Blindness , Panel Massive Sequencing (NGS) 13 Genes Panel

Spain.

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

More info about this panel


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