Details of Disease

General Information of Disease (ID: DISR4EMI)

Disease Name Achromatopsia 3
Synonyms
ACHM1 (formerly); RMCH1 (formerly); rod monochromatism 1, formerly; achromatopsia with myopia; total colorblindness with myopia; Rod monochromatism 1 (formerly); rod monochromacy 1, formerly; ACHM1, formerly; Rod monochromacy 1 (formerly); ACHM1; achromatopsia 3; achromatopsia type 3; ACHM3; achromatopsia caused by mutation in CNGB3; CNGB3 achromatopsia; RMCH1; rod monochromatism 1; rod monochromacy 1
Definition Any achromatopsia in which the cause of the disease is a mutation in the CNGB3 gene.
Disease Hierarchy
DISFFREC: CNGB3-related retinopathy
DISKL51I: Achromatopsia
DISR4EMI: Achromatopsia 3
Disease Identifiers
MONDO ID
MONDO_0009875
MESH ID
C536129
UMLS CUI
C1849792
OMIM ID
262300
MedGen ID
340413

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CACNA1F TTJ0SO4 Strong Genetic Variation [1]
CNGA3 TTW0QOV Strong Genetic Variation [1]
CNGB3 TT0LJCG Definitive Autosomal recessive [2]
CNGB3 TT0LJCG Definitive Biomarker [3]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
COL11A1 OTB0DRMS Strong Biomarker [4]
CRB1 OTXYUNG0 Strong Genetic Variation [1]
NYX OTAGXLYP Strong Genetic Variation [1]
CNGB3 OTGR3KO5 Definitive Autosomal recessive [2]
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References

1 Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture).Ophthalmic Genet. 2002 Jun;23(2):71-97. doi: 10.1076/opge.23.2.71.2214.
2 A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family from a rural isolate. Eur J Hum Genet. 2002 Oct;10(10):638-42. doi: 10.1038/sj.ejhg.5200856.
3 A Novel Achromatopsia Mouse Model Resulting From a Naturally Occurring Missense Change in Cngb3.Invest Ophthalmol Vis Sci. 2018 Dec 3;59(15):6102-6110. doi: 10.1167/iovs.18-24328.
4 A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen.Hum Mol Genet. 1996 Sep;5(9):1339-43. doi: 10.1093/hmg/5.9.1339.