OPN1MW gene related symptoms and diseases
All the information presented here about the OPN1MW gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to OPN1MW gene
Symptoms // Phenotype | % Cases |
---|---|
Abnormality of retinal pigmentation | Common - Between 50% and 80% cases |
Photophobia | Common - Between 50% and 80% cases |
Abnormality of color vision | Common - Between 50% and 80% cases |
Visual impairment | Common - Between 50% and 80% cases |
Nystagmus | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with OPN1MW gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Progressive cone degeneration
- Protanomaly
- Deuteranopia
- Deuteranomaly
- Protanopia
- Neurofibromas
- Retinal degeneration
- Nyctalopia
And 15 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to OPN1MW gene
Here you will find a list of rare diseases related to the OPN1MW. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
BLUE CONE MONOCHROMATISM
Alternate names
BLUE CONE MONOCHROMATISM Is also known as s cone monochromatism, x-linked incomplete achromatopsia, blue cone monochromatism, color blindness, blue monocone monochromatic type, blue cone monochromacy, colorblindness, blue-mono-cone-monochromatic type, cbbm, s cone monochromacy, atypical x-linked achromat
Description
Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia (see this term).
Most common symptoms of BLUE CONE MONOCHROMATISM
- Nystagmus
- Visual impairment
- Myopia
- Reduced visual acuity
- Photophobia
More info about BLUE CONE MONOCHROMATISM
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
COLORBLINDNESS, PARTIAL, DEUTAN SERIES; CBD
Alternate names
COLORBLINDNESS, PARTIAL, DEUTAN SERIES; CBD Is also known as deutan colorblindness, deuteranopia, green colorblindness, dcb
Description
Normal color vision in humans is trichromatic, being based on 3 classes of cone that are maximally sensitive to light at approximately 420 nm (blue cones; {613522}), 530 nm (green cones; {300821}), and 560 nm (red cones; {300822}). Comparison by neural circuits of light absorption by the 3 classes of cone photoreceptors allows perception of red, yellow, green, and blue colors individually or in various combinations. Dichromatic color vision is severely defective color vision based on the use of only 2 types of photoreceptors, blue plus green (protanopia; see {303900}) or blue plus red (deuteranopia). Anomalous trichromacy is trichromatic color vision based on a blue, green, and an anomalous red-like photoreceptor (protanomaly), or a blue, red, and an anomalous green-like photoreceptor (deuteranomaly). The color vision defect is generally mild but may in certain cases be severe. Common variation in red-green color vision exists among both normal and color-deficient individuals (review by Deeb, 2005).
Most common symptoms of COLORBLINDNESS, PARTIAL, DEUTAN SERIES; CBD
- Abnormality of color vision
- Protanopia
- Deuteranomaly
- Deuteranopia
- Protanomaly
More info about COLORBLINDNESS, PARTIAL, DEUTAN SERIES; CBD
SOURCES: OMIM
Search interest in OPN1MW
Potential gene panels for OPN1MW 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 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 panelBlue Cone Monochromacy Panel Panel
By Molecular Vision Laboratory Blue Cone Monochromacy Panel that also includes the following genes: OPN1MW OPN1LW
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 panelX-chromosome High Resolution microarray analysis Panel
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2
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