BCM
MCID: BLC001
MIFTS: 45

Blue Cone Monochromacy (BCM)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Blue Cone Monochromacy

MalaCards integrated aliases for Blue Cone Monochromacy:

Name: Blue Cone Monochromacy 56 12 58 73 36 13 15
Blue Cone Monochromatism 56 74 52 58 73
Cbbm 56 52 73
Bcm 56 52 73
Cone Dystrophy 5, X-Linked 6 71
Colorblindness, Blue-Mono-Cone-Monochromatic Type; Cbbm 56
Colorblindness, Blue-Mono-Cone-Monochromatic Type 56
Color Blindness Blue Mono Cone Monochromatic Type 52
Color Blindness, Blue Monocone Monochromatic Type 58
Colorblindness Blue-Mono-Cone-Monochromatic Type 73
Achromatopsia Incomplete, X-Linked 71
Achromatopsia Incomplete X-Linked 52
Incomplete Achromatopsia X-Linked 52
X-Chromosome-Linked Achromatopsia 52
X-Linked Achromatopsia Incomplete 52
X-Linked Incomplete Achromatopsia 58
Atypical X-Linked Achromatopsia 58
Cone Dystrophy 5 X-Linked 73
Monochromacy, Blue Cone 39
S Cone Monochromatism 58
S Cone Monochromacy 58
Cone Monochromatism 71
Cone Dystrophy 5 73
Cod5 73

Characteristics:

Orphanet epidemiological data:

58
blue cone monochromatism
Inheritance: X-linked recessive; Prevalence: 1-9/100000 (Worldwide); Age of onset: Infancy; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
x-linked recessive

Miscellaneous:
progressive disease is seen in some patients


HPO:

31
blue cone monochromacy:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0050679
OMIM 56 303700
OMIM Phenotypic Series 56 PS120970
KEGG 36 H00974
MESH via Orphanet 44 C536238 C538165
ICD10 via Orphanet 33 H53.5
UMLS via Orphanet 72 C0339537 C2931753
Orphanet 58 ORPHA16
UMLS 71 C0339537 C2931753 C3887937

Summaries for Blue Cone Monochromacy

UniProtKB/Swiss-Prot : 73 Blue cone monochromacy: A rare X-linked congenital stationary cone dysfunction syndrome characterized by the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina. Color discrimination is severely impaired from birth, and vision is derived from the remaining preserved blue (S) cones and rod photoreceptors. BCM typically presents with reduced visual acuity, pendular nystagmus, and photophobia. Patients often have myopia.
Cone dystrophy 5: An X-linked cone dystrophy. Cone dystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors with preservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in some cone dystrophies, particularly at late stage. Affected individuals suffer from photophobia, loss of visual acuity, color vision and central visual field. Another sign is the absence of macular lesions for many years. Cone dystrophies are distinguished from the cone-rod dystrophies in which some loss of peripheral vision also occurs.

MalaCards based summary : Blue Cone Monochromacy, also known as blue cone monochromatism, is related to color vision deficiency and congenital nystagmus, and has symptoms including photophobia An important gene associated with Blue Cone Monochromacy is OPN1LW (Opsin 1, Long Wave Sensitive), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Phototransduction. Affiliated tissues include retina, eye and testes, and related phenotypes are blue cone monochromacy and nystagmus

Disease Ontology : 12 An achromatopsia that is characterized by severely impaired color discrimination, low visual acuity, nystagmus, photophobia due to the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina and has material basis in recessive X-linked inheritance.

NIH Rare Diseases : 52 Blue cone monochromatism is an inherited vision disorder. In this condition, the light sensitive cells in the eye used for color vision (cones) are affected. There are three types of cones that respond to one of three colors: red, green, and blue. When people have blue cone monochromatism, both the red and green cones do not function properly, while the blue cones work normally. Signs and symptoms may include impaired color vision, low visual acuity (clarity or sharpness), photophobia (light sensitivity), myopia (nearsightedness), and nystagmus (fast, uncontrollable movements of the eye). Blue cone monochromatism is caused by mutations in either the OPN1LW or the OPN1MW gene (s) and is inherited in an X-linked manner. There is no cure for this condition; however, there may be ways to manage the symptoms, such as using special glasses or contact lenses and low vision aids.

OMIM : 56 Blue cone (OPN1SW; 613522) monochromatism is a rare X-linked congenital stationary cone dysfunction syndrome characterized by the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina. Color discrimination is severely impaired from birth, and vision is derived from the remaining preserved blue (S) cones and rod photoreceptors. BCM typically presents with reduced visual acuity, pendular nystagmus, and photophobia. Patients often have myopia (review by Gardner et al., 2009). There is evidence for progression of disease in some BCM families (Nathans et al., 1989; Ayyagari et al., 2000; Michaelides et al., 2005). (303700)

KEGG : 36 Blue cone monochromacy (also known as X-linked recessive incomplete achromatopsia) is a congenital stationary cone dysfunction syndrome characterized by the absence of both red and green cone sensitivities. Vision is derived from the remaining blue cones and rod photoreceptors. Patients present with reduced visual acuity, pendular nystagmus, and photophobia. The prevalence of blue cone monochromacy is estimated to be 1 in 100 000 males.

Wikipedia : 74 Monochromacy (from Greek mono, meaning "one" and chromo, meaning "color") is the ability of organisms or... more...

Related Diseases for Blue Cone Monochromacy

Diseases related to Blue Cone Monochromacy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 69)
# Related Disease Score Top Affiliating Genes
1 color vision deficiency 32.6 OPSIN-LCR OPN1MW OPN1LW CNGA3
2 congenital nystagmus 30.4 CNGB3 CNGA3
3 tritanopia 30.2 RHO PDE6C OPN1LW
4 myopia 30.0 TEX28 RHO OPN1LW CNGB3
5 enhanced s-cone syndrome 29.9 RHO GNAT2 CNGB3 CNGA3
6 yemenite deaf-blind hypopigmentation syndrome 29.5 RHO GUCY2D
7 scotoma 29.1 RHO GUCY2D CNGB3 CNGA3
8 colorblindness, partial, protan series 29.0 TEX28 RHO PDE6C OPN1LW GNAT2 CNGB3
9 eye disease 29.0 RHO GUCY2D CNGB3 CNGA3
10 retinal disease 28.8 RHO OPN1LW GUCY2D CNGB3 CNGA3
11 pathologic nystagmus 28.4 RHO PDE6H PDE6C OPN1LW GUCY2D GNAT2
12 cone dystrophy 28.1 RHO PDE6H PDE6C OPN1MW OPN1LW GUCY2D
13 fundus dystrophy 27.9 RHO PDE6H PDE6C OPN1LW GUCY2D GNAT2
14 cone-rod dystrophy 2 27.8 RHO PDE6H OPN1MW OPN1LW GUCY2D GNAT2
15 achromatopsia 27.7 RHO PDE6H PDE6C OPSIN-LCR OPN1LW GUCY2D
16 color blindness 27.6 RHO PDE6H PDE6C OPN1MW OPN1LW GUCY2D
17 nystagmus 1, congenital, x-linked 11.5
18 joint laxity, short stature, and myopia 10.4
19 microvascular complications of diabetes 5 10.4
20 bornholm eye disease 10.3 OPN1MW OPN1LW
21 retinitis pigmentosa 44 10.3 CNGB3 CNGA3
22 ocular dominance 10.3
23 breast disease 10.3
24 astigmatism 10.3
25 retinal degeneration 10.3
26 ocular albinism, x-linked 10.3
27 inherited retinal disorder 10.3
28 cone-rod dystrophy, x-linked, 1 10.2
29 autosomal recessive disease 10.1
30 refractive error 10.1
31 breast cancer 10.1
32 peripheral vascular disease 10.1
33 mantle cell lymphoma 10.1
34 bacterial infectious disease 10.1
35 leukemia 10.1
36 end stage renal disease 10.1
37 chronic kidney disease 10.1
38 peritonitis 10.1
39 lung disease 10.1
40 cardiogenic shock 10.1
41 oligocone trichromacy 10.0 PDE6C GNAT2 CNGB3 CNGA3
42 jalili syndrome 9.9 PDE6C GNAT2 CNGB3 CNGA3
43 cone-rod dystrophy 5 9.9 OPN1LW GUCY2D
44 choroideremia 9.8 RHO CNGB3 CNGA3
45 cone-rod dystrophy 9 9.8 GUCY2D CNGB3
46 occult macular dystrophy 9.8 GUCY2D CNGB3
47 leber congenital amaurosis 4 9.7 GUCY2D CNGB3
48 prolonged electroretinal response suppression 9.7 RHO GNAT2 CNGB3 CNGA3
49 achromatopsia 7 9.7 PDE6H PDE6C GNAT2 CNGB3 CNGA3
50 achromatopsia 2 9.7 PDE6H PDE6C GNAT2 CNGB3 CNGA3

Graphical network of the top 20 diseases related to Blue Cone Monochromacy:



Diseases related to Blue Cone Monochromacy

Symptoms & Phenotypes for Blue Cone Monochromacy

Human phenotypes related to Blue Cone Monochromacy:

58 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 blue cone monochromacy 58 31 hallmark (90%) Very frequent (99-80%) HP:0007939
2 nystagmus 31 frequent (33%) HP:0000639
3 visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000505
4 abnormality of retinal pigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007703
5 photophobia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000613
6 abnormal electroretinogram 58 31 occasional (7.5%) Occasional (29-5%) HP:0000512
7 corneal dystrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001131
8 abnormality of macular pigmentation 31 occasional (7.5%) HP:0008002
9 myopia 31 HP:0000545
10 reduced visual acuity 31 HP:0007663
11 pendular nystagmus 31 HP:0012043

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
photophobia
myopia
reduced visual acuity
colorblindness, blue cone monochromacy type
nystagmus, pendular (primarily in childhood)
more

Clinical features from OMIM:

303700

UMLS symptoms related to Blue Cone Monochromacy:


photophobia

MGI Mouse Phenotypes related to Blue Cone Monochromacy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.23 CNGA3 CNGB3 GNAT2 GUCY2D OPN1LW PDE6C

Drugs & Therapeutics for Blue Cone Monochromacy

Search Clinical Trials , NIH Clinical Center for Blue Cone Monochromacy

Genetic Tests for Blue Cone Monochromacy

Anatomical Context for Blue Cone Monochromacy

MalaCards organs/tissues related to Blue Cone Monochromacy:

40
Retina, Eye, Testes

Publications for Blue Cone Monochromacy

Articles related to Blue Cone Monochromacy:

(show top 50) (show all 91)
# Title Authors PMID Year
1
Blue cone monochromacy: causative mutations and associated phenotypes. 56 6 61
19421413 2009
2
Blue cone monochromatism: a phenotype and genotype assessment with evidence of progressive loss of cone function in older individuals. 61 56 6
15094734 2005
3
A new mechanism in blue cone monochromatism. 61 6 56
8792812 1996
4
Genetic heterogeneity among blue-cone monochromats. 61 56 6
8213841 1993
5
Molecular genetics of human blue cone monochromacy. 6 61 56
2788922 1989
6
X-linked cone dystrophy caused by mutation of the red and green cone opsins. 6 56
20579627 2010
7
Is colour vision possible with only rods and blue-sensitive cones? 6 56
1881435 1991
8
Spectrum of color gene deletions and phenotype in patients with blue cone monochromacy. 56 61
10982039 2000
9
Gene conversion between red and defective green opsin gene in blue cone monochromacy. 6 61
8666378 1995
10
A locus control region adjacent to the human red and green visual pigment genes. 61 56
1524826 1992
11
Mapping X-linked ophthalmic diseases. III. Provisional assignment of the locus for blue cone monochromacy to Xq28. 56 61
2888453 1987
12
Cone rod dystrophies. 6
17270046 2007
13
HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model. 6
11006213 2000
14
Defective colour vision associated with a missense mutation in the human green visual pigment gene. 6
1302020 1992
15
Electroretinograms in patients with achromatopsia. 56
1789084 1991
16
THE X-LINKED RECESSIVE INHERITANCE OF ATYPICAL MONOCHROMATISM. 56
14338644 1965
17
The enigma of typical total monochromacy. 56
13682677 1960
18
Comment: Novel mutations in the OPN1LW and NR2R3 genes in a patient with blue cone monochromacy. 61
30707043 2019
19
Rescue of M-cone Function in Aged Opn1mw-/- Mice, a Model for Late-Stage Blue Cone Monochromacy. 61
31469404 2019
20
Novel mutations in the OPN1LW and NR2R3 genes in a patient with blue cone monochromacy. 61
30614359 2019
21
Blue Cone Monochromacy Caused by the C203R Missense Mutation or Large Deletion Mutations. 61
30516820 2018
22
Preimplantation genetic diagnosis as a strategy to prevent having a child born with an heritable eye disease. 61
29781739 2018
23
Genotype determination of the OPN1LW/OPN1MW genes: novel disease-causing mechanisms in Japanese patients with blue cone monochromacy. 61
30065301 2018
24
A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy: a case report. 61
29940872 2018
25
Human S-cone electroretinograms obtained by silent substitution stimulation. 61
29603933 2018
26
Publisher Correction: Gene-based Therapy in a Mouse Model of Blue Cone Monochromacy. 61
29540812 2018
27
Human L- and M-opsins restore M-cone function in a mouse model for human blue cone monochromacy. 61
29386880 2018
28
Blue Cone Monochromatism. 61
30578487 2018
29
Gene-based Therapy in a Mouse Model of Blue Cone Monochromacy. 61
28751656 2017
30
Role of a Dual Splicing and Amino Acid Code in Myopia, Cone Dysfunction and Cone Dystrophy Associated with L/M Opsin Interchange Mutations. 61
28516000 2017
31
Myopia and Late-Onset Progressive Cone Dystrophy Associate to LVAVA/MVAVA Exon 3 Interchange Haplotypes of Opsin Genes on Chromosome X. 61
28358949 2017
32
De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy. 61
27339364 2016
33
Developing an Outcome Measure With High Luminance for Optogenetics Treatment of Severe Retinal Degenerations and for Gene Therapy of Cone Diseases. 61
27309625 2016
34
The cone dysfunction syndromes. 61
25770143 2016
35
Novel OPN1LW/OPN1MW deletion mutations in 2 Japanese families with blue cone monochromacy. 61
27274860 2016
36
High-resolution microarray analysis unravels complex Xq28 aberrations in patients and carriers affected by X-linked blue cone monochromacy. 61
26153062 2016
37
ASSESSING PHOTORECEPTOR STRUCTURE ASSOCIATED WITH ELLIPSOID ZONE DISRUPTIONS VISUALIZED WITH OPTICAL COHERENCE TOMOGRAPHY. 61
26166796 2016
38
[Preimplantation genetic diagnosis and monogenic inherited eye diseases]. 61
28224801 2016
39
Electroretinographic characteristics in children with infantile nystagmus syndrome and early-onset retinal dystrophies. 61
25096283 2015
40
Vitritis in pediatric genetic retinal disorders. 61
25217415 2015
41
Blue cone monochromacy: visual function and efficacy outcome measures for clinical trials. 61
25909963 2015
42
[Optical coherence tomography in the diagnosis of achromatopsia]. 61
24269402 2014
43
S-opsin knockout mice with the endogenous M-opsin gene replaced by an L-opsin variant. 61
24801621 2014
44
Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy. 61
24067079 2013
45
Blue cone monochromatism in a female due to skewed X-inactivation. 61
22998501 2013
46
Visual function and cortical organization in carriers of blue cone monochromacy. 61
23469117 2013
47
The effect of cone opsin mutations on retinal structure and the integrity of the photoreceptor mosaic. 61
23139274 2012
48
Clinical utility gene card for: blue cone monochromatism. 61
21267011 2011
49
Deletion of the X-linked opsin gene array locus control region (LCR) results in disruption of the cone mosaic. 61
20638402 2010
50
Variable retinal phenotypes caused by mutations in the X-linked photopigment gene array. 61
20220053 2010

Variations for Blue Cone Monochromacy

ClinVar genetic disease variations for Blue Cone Monochromacy:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 OPN1LW , OPN1MW , OPSIN-LCR deletion Pathogenic 448956 X:154118184-154191311
2 OPN1LW NM_020061.6(OPN1LW):c.739C>T (p.Arg247Ter)SNV Pathogenic 10503 rs104894912 X:153420209-153420209 X:154154734-154154734
3 OPN1LW NM_020061.6(OPN1LW):c.607T>C (p.Cys203Arg)SNV Pathogenic 10505 rs121434621 X:153420077-153420077 X:154154602-154154602
4 OPN1LW NC_000023.11:g.(154153459_154153462)_(154154925_154154928)deldeletion Pathogenic 10507 X:154153459-154154928
5 OPN1MW NM_000513.2(OPN1MW):c.607T>C (p.Cys203Arg)SNV Pathogenic 10508 rs104894914 X:153457207-153457207 X:154191716-154191716
6 OPN1MW NM_000513.2(OPN1MW):c.529T>C (p.Trp177Arg)SNV Pathogenic 10513 rs267606927 X:153455662-153455662 X:154190173-154190173

UniProtKB/Swiss-Prot genetic disease variations for Blue Cone Monochromacy:

73
# Symbol AA change Variation ID SNP ID
1 OPN1LW p.Cys203Arg VAR_009298 rs121434621
2 OPN1LW p.Pro307Leu VAR_009299 rs782797093
3 OPN1MW p.Cys203Arg VAR_004841 rs104894914
4 OPN1MW p.Trp177Arg VAR_064052 rs267606927

Expression for Blue Cone Monochromacy

Search GEO for disease gene expression data for Blue Cone Monochromacy.

Pathways for Blue Cone Monochromacy

GO Terms for Blue Cone Monochromacy

Cellular components related to Blue Cone Monochromacy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor disc membrane GO:0097381 9.46 RHO OPN1MW OPN1LW GUCY2D
2 Cul4-RING E3 ubiquitin ligase complex GO:0080008 9.32 DCAF12L2 DCAF12L1
3 transmembrane transporter complex GO:1902495 9.26 CNGB3 CNGA3
4 photoreceptor outer segment membrane GO:0042622 9.26 RHO PDE6H GUCY2D GNAT2
5 photoreceptor outer segment GO:0001750 9.1 RHO OPN1MW OPN1LW GUCY2D GNAT2 CNGB3

Biological processes related to Blue Cone Monochromacy according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.01 RHO PDE6C OPN1MW OPN1LW GUCY2D GNAT2
2 response to stimulus GO:0050896 9.61 RHO PDE6H PDE6C OPN1MW OPN1LW GUCY2D
3 retinoid metabolic process GO:0001523 9.54 RHO OPN1MW OPN1LW
4 positive regulation of cytokinesis GO:0032467 9.52 OPN1MW OPN1LW
5 regulation of rhodopsin mediated signaling pathway GO:0022400 9.51 RHO GUCY2D
6 cellular response to light stimulus GO:0071482 9.5 RHO OPN1MW OPN1LW
7 detection of visible light GO:0009584 9.49 OPN1MW OPN1LW
8 sensory perception of light stimulus GO:0050953 9.48 RHO PDE6C
9 retinal cone cell development GO:0046549 9.46 PDE6C GNAT2
10 phototransduction GO:0007602 9.46 RHO OPN1MW OPN1LW GNAT2
11 phototransduction, visible light GO:0007603 9.43 RHO PDE6C
12 protein-chromophore linkage GO:0018298 9.43 RHO OPN1MW OPN1LW
13 visual perception GO:0007601 9.28 RHO PDE6H PDE6C OPN1MW OPN1LW GUCY2D

Molecular functions related to Blue Cone Monochromacy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 3',5'-cyclic-nucleotide phosphodiesterase activity GO:0004114 9.4 PDE6H PDE6C
2 3',5'-cyclic-GMP phosphodiesterase activity GO:0047555 9.37 PDE6H PDE6C
3 photoreceptor activity GO:0009881 9.33 RHO OPN1MW OPN1LW
4 intracellular cAMP-activated cation channel activity GO:0005222 9.32 CNGB3 CNGA3
5 intracellular cGMP-activated cation channel activity GO:0005223 9.26 CNGB3 CNGA3
6 cGMP binding GO:0030553 9.26 PDE6H PDE6C CNGB3 CNGA3
7 G protein-coupled photoreceptor activity GO:0008020 8.92 RHO OPN1MW OPN1LW GNAT2

Sources for Blue Cone Monochromacy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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