Details of Disease | DrugMAP

General Information of Disease (ID: DISV3ZVU)

Disease Name	Red-green color blindness
Synonyms	colorblindness, partial, DEUTAN series; Deuteranomaly; Green colorblindness; Deutan colorblindness; CBD; Deutan defect; deuteranopia; colorblindness, deutan; reduced red-green discrimination; partial achromatopsia, deutan type
Definition	Deuteranopia is a type of color vision deficiency where the green photoreceptors are absent. It affects hue discrimination in the same way as protanopia, but without the dimming effect. Like protanopia, it is hereditary, sex-linked, and found in about 1% of the male population.
Disease Hierarchy	DISD715V: Hereditary neurological disease DIS0OIAK: Colorblindness, partial DISV3ZVU: Red-green color blindness
Disease Identifiers	MONDO ID MONDO_0010564 MESH ID D003117 UMLS CUI C0155016 MedGen ID 102324 HPO ID HP:0000642 Orphanet ID 319698 SNOMED CT ID 246674000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

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]
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This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ATF6	OTAFHAVI	Strong	Biomarker	[2]
GNAT2	OTD9Y4UH	Strong	Biomarker	[3]
GOLGB1	OT2S0GK8	Strong	Genetic Variation	[4]
MBD4	OTWR9YXE	Strong	Biomarker	[5]
OPN1MW	OTPJ7LX4	Strong	X-linked	[6]
TEX28	OTZN7MYL	Strong	Genetic Variation	[7]
PDE6H	OTMLRB1D	Definitive	Biomarker	[8]
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⏷ Show the Full List of 7 DOT(s)

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	A contiguous, 3-Mb physical map of Xq28 extending from the colorblindness locus to DXS15.Am J Hum Genet. 1989 Dec;45(6):873-82.
5	G6PD haplotypes spanning Xq28 from F8C to red/green color vision.Genomics. 1993 Jul;17(1):6-14. doi: 10.1006/geno.1993.1276.
6	Analysis of L-cone/M-cone visual pigment gene arrays in Japanese males with protan color-vision deficiency. Vision Res. 2004;44(19):2241-52. doi: 10.1016/j.visres.2004.04.011.
7	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.
8	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.