Details of Disease

General Information of Disease (ID: DISQHW4Z)

• Disease Name: Red color blindness
• Synonyms: CBP; protanomaly; red colorblindness; colorblindness, partial, protan series; protan defect; colorblindness, protan; protanopia; red color blindness; partial achromatopsia, protan type
• Definition: Protanopia is a severe type of color vision deficiency caused by the complete absence of red retinal photoreceptors. Protans have difficulties distinguishing between blue and green colors and also between red and green colors. It is a form of dichromatism in which the subject can only perceive light wavelengths from 400 to 650 nm, instead of the usual 700 nm. Pure reds cannot be seen, instead appearing black; purple colors cannot be distinguished from blues; more orange-tinted reds may appear as very dim yellows, and all orange-yellow-green shades of too long a wavelength to stimulate the blue receptors appear as a similar yellow hue. It is hereditary, sex-linked, and present in 1% of males.
• Disease Hierarchy:
  DIS9VL93: Color vision disorder
  DISB52BH: Eye disorder
  DISD715V: Hereditary neurological disease
  DISQHW4Z: Red color blindness
• Disease Identifiers:
  MONDO ID: MONDO_0010565
  MESH ID: D003117
  UMLS CUI: C0155015
  MedGen ID: 56350
  Orphanet ID: 319691
  SNOMED CT ID: 51445007

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CNGA3	TTW0QOV	moderate	Biomarker	[1]
CNGB3	TT0LJCG	moderate	Biomarker	[1]

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ATF6	OTAFHAVI	Strong	Biomarker	[2]
GNAT2	OTD9Y4UH	Strong	Biomarker	[3]
OPN1LW	OTFNUZ7O	Strong	X-linked	[4]
TEX28	OTZN7MYL	Strong	Genetic Variation	[5]
PDE6H	OTMLRB1D	Definitive	Biomarker	[6]

References

• [1] Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathy.J Clin Invest. 2018 Dec 3;128(12):5663-5675. doi: 10.1172/JCI96098. Epub 2018 Nov 12.
• [2] Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. Nat Genet. 2015 Jul;47(7):757-65. doi: 10.1038/ng.3319. Epub 2015 Jun 1.
• [3] Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. Am J Hum Genet. 2002 Aug;71(2):422-5. doi: 10.1086/341835. Epub 2002 Jun 20.
• [4] Spectrum of color gene deletions and phenotype in patients with blue cone monochromacy. Hum Genet. 2000 Jul;107(1):75-82. doi: 10.1007/s004390000338.
• [5] Evaluation of the X-linked high-grade myopia locus (MYP1) with cone dysfunction and color vision deficiencies.Invest Ophthalmol Vis Sci. 2009 Apr;50(4):1552-8. doi: 10.1167/iovs.08-2455. Epub 2008 Dec 20.
• [6] Targeted ablation of the Pde6h gene in mice reveals cross-species differences in cone and rod phototransduction protein isoform inventory.J Biol Chem. 2015 Apr 17;290(16):10242-55. doi: 10.1074/jbc.M114.611921. Epub 2015 Mar 4.