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.

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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

SOURCES: ORPHANET MESH 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

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


Potential gene panels for OPN1MW 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

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

Blue Cone Monochromacy Panel Panel

United States.

By Molecular Vision Laboratory Blue Cone Monochromacy Panel that also includes the following genes: OPN1MW OPN1LW

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

X-chromosome High Resolution microarray analysis Panel

United States.

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

More info about this panel


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