Details of Disease

General Information of Disease (ID: DISYV7KB)

Disease Name Blue cone monochromacy
Synonyms
cone dystrophy 5, X-linked; CBBM; incomplete achromatopsia X-linked; X-linked achromatopsia incomplete; colorblindness, blue-Mono-cone-monochromatic type; color blindness blue mono cone monochromatic type; achromatopsia incomplete X-linked; X-chromosome-linked achromatopsia; colour blindness blue mono cone monochromatic type; BCM; S cone monochromatism; blue cone monochromacy; S cone monochromacy; blue cone monochromatism; color blindness, blue monocone monochromatic type; X-linked incomplete achromatopsia; atypical X-linked achromatopsia; blue cone monochromacy, X-linked recessive; colour blindness, blue monocone monochromatic type
Definition
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.
Disease Hierarchy
DISHZGSA: X-linked recessive disease
DIS0RL6N: X-linked cone-rod dystrophy
DISKL51I: Achromatopsia
DISYV7KB: Blue cone monochromacy
Disease Identifiers
MONDO ID
MONDO_0010563
MESH ID
C536238
UMLS CUI
C0339537
OMIM ID
303700
MedGen ID
87386
HPO ID
HP:0007939
Orphanet ID
16
SNOMED CT ID
789676005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CNGA3 TTW0QOV Limited Genetic Variation [1]
PNPLA6 TTWAQU2 Limited Biomarker [2]
CNGB3 TT0LJCG Strong Genetic Variation [3]
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This Disease Is Related to 6 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GNAT2 OTD9Y4UH Limited Genetic Variation [4]
PDE6C OTE7EVWQ moderate Genetic Variation [5]
PDE6H OTMLRB1D moderate Genetic Variation [6]
NR2E3 OTO3GBHQ Strong Genetic Variation [7]
OPN1LW OTFNUZ7O Definitive X-linked [8]
OPN1MW OTPJ7LX4 Definitive Mitochondrial [8]
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⏷ Show the Full List of 6 DOT(s)

References

1 Retinal morphology of patients with achromatopsia during early childhood: implications for gene therapy.JAMA Ophthalmol. 2014 Jul;132(7):823-31. doi: 10.1001/jamaophthalmol.2014.685.
2 X-linked incomplete achromatopsia with more than one class of functional cones.Invest Ophthalmol Vis Sci. 1983 Apr;24(4):451-7.
3 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.
4 Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations.Invest Ophthalmol Vis Sci. 2004 Dec;45(12):4256-62. doi: 10.1167/iovs.04-0317.
5 Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. Am J Hum Genet. 2009 Aug;85(2):240-7. doi: 10.1016/j.ajhg.2009.06.016. Epub 2009 Jul 16.
6 A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia. Am J Hum Genet. 2012 Sep 7;91(3):527-32. doi: 10.1016/j.ajhg.2012.07.006. Epub 2012 Aug 16.
7 Novel mutations in the OPN1LW and NR2R3 genes in a patient with blue cone monochromacy.Ophthalmic Genet. 2019 Feb;40(1):43-48. doi: 10.1080/13816810.2018.1561902. Epub 2019 Jan 7.
8 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.