BCM
MCID: BLC001
MIFTS: 45

Blue Cone Monochromacy (BCM)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Blue Cone Monochromacy

MalaCards integrated aliases for Blue Cone Monochromacy:

Name: Blue Cone Monochromacy 58 12 60 76 38 13 15
Blue Cone Monochromatism 58 77 54 60 76
Cbbm 58 54 76
Bcm 58 54 76
Cone Dystrophy 5, X-Linked 6 74
Colorblindness, Blue-Mono-Cone-Monochromatic Type; Cbbm 58
Colorblindness, Blue-Mono-Cone-Monochromatic Type 58
Color Blindness Blue Mono Cone Monochromatic Type 54
Color Blindness, Blue Monocone Monochromatic Type 60
Colorblindness Blue-Mono-Cone-Monochromatic Type 76
Achromatopsia Incomplete, X-Linked 74
Achromatopsia Incomplete X-Linked 54
Incomplete Achromatopsia X-Linked 54
X-Chromosome-Linked Achromatopsia 54
X-Linked Achromatopsia Incomplete 54
X-Linked Incomplete Achromatopsia 60
Atypical X-Linked Achromatopsia 60
Monochromacy, Blue Cone ) 41
Cone Dystrophy 5 X-Linked 76
S Cone Monochromatism 60
S Cone Monochromacy 60
Cone Monochromatism 74
Cone Dystrophy 5 76
Cod5 76

Characteristics:

Orphanet epidemiological data:

60
blue cone monochromatism
Inheritance: X-linked recessive; Prevalence: 1-9/100000 (Worldwide); Age of onset: Infancy; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
x-linked recessive

Miscellaneous:
progressive disease is seen in some patients


HPO:

33
blue cone monochromacy:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 60  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0050679
OMIM 58 303700
KEGG 38 H00974
MESH via Orphanet 46 C536238 C538165
ICD10 via Orphanet 35 H53.5
UMLS via Orphanet 75 C0339537 C2931753
Orphanet 60 ORPHA16

Summaries for Blue Cone Monochromacy

UniProtKB/Swiss-Prot : 76 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: A 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 tritanopia and achromatopsia, 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 and eye, 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 : 54 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 : 58 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)

Wikipedia : 77 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 all 33)
# Related Disease Score Top Affiliating Genes
1 tritanopia 30.4 CNGB3 RHO
2 achromatopsia 28.8 CNGA3 CNGB3 NR2E3 OPN1LW OPN1MW OPSIN-LCR
3 nystagmus 1, congenital, x-linked 11.4
4 oligocone trichromacy 10.2 CNGA3 CNGB3
5 achromatopsia 4 10.2 CNGA3 CNGB3
6 jalili syndrome 10.2 CNGA3 CNGB3
7 achromatopsia 2 10.2 CNGA3 CNGB3
8 cone-rod dystrophy 8 10.1 CNGA3 CNGB3
9 retinitis pigmentosa 44 10.1 CNGA3 CNGB3
10 choroid disease 10.1 CNGB3 RHO
11 cone-rod dystrophy 9 10.1 CNGA3 CNGB3
12 stargardt disease 10.0 CNGB3 RHO
13 cone-rod dystrophy 6 10.0 CNGA3 CNGB3
14 stargardt disease 1 10.0 CNGB3 RHO
15 breast cancer 10.0
16 ocular dominance 10.0
17 lymphoma 10.0
18 breast disease 10.0
19 peritonitis 10.0
20 lung disease 10.0
21 retinitis pigmentosa 26 10.0 CNGA3 CNGB3
22 enhanced s-cone syndrome 9.9 CNGA3 NR2E3
23 pathologic nystagmus 9.9 CNGA3 CNGB3 RHO
24 color blindness 9.8 CNGA3 CNGB3 OPN1LW OPN1MW
25 achromatopsia 3 9.8 CNGA3 CNGB3
26 cone dystrophy 9.8 CNGB3 OPN1LW OPN1MW RHO
27 fundus dystrophy 9.6 CNGA3 CNGB3 NR2E3 RHO
28 leber congenital amaurosis 9.6 CNGA3 CNGB3 NR2E3 RHO
29 color vision deficiency 9.6 CNGA3 NR2E3 OPN1LW OPN1MW OPSIN-LCR
30 ewing sarcoma 9.5 CNGA3 CNGB3 CYCS RHO
31 retinitis pigmentosa 9.4 CNGA3 NR2E3 OPN1LW OPN1MW RHO
32 colorblindness, partial, protan series 9.3 CNGB3 OPN1LW OPN1MW RHO TEX28
33 red-green color blindness 9.3 CNGB3 OPN1LW OPN1MW RHO TEX28

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:

60 33 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 blue cone monochromacy 60 33 hallmark (90%) Very frequent (99-80%) HP:0007939
2 nystagmus 33 frequent (33%) HP:0000639
3 visual impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000505
4 abnormality of retinal pigmentation 60 33 occasional (7.5%) Occasional (29-5%) HP:0007703
5 photophobia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000613
6 corneal dystrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001131
7 abnormal electroretinogram 60 33 occasional (7.5%) Occasional (29-5%) HP:0000512
8 abnormality of macular pigmentation 33 occasional (7.5%) HP:0008002
9 myopia 33 HP:0000545
10 reduced visual acuity 33 HP:0007663
11 pendular nystagmus 33 HP:0012043

Symptoms via clinical synopsis from OMIM:

58
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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.02 CNGA3 CNGB3 NR2E3 OPN1LW RHO

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:

42
Retina, Eye

Publications for Blue Cone Monochromacy

Articles related to Blue Cone Monochromacy:

(show all 21)
# Title Authors Year
1
Novel mutations in the OPN1LW and NR2R3 genes in a patient with blue cone monochromacy. ( 30614359 )
2019
2
Comment: Novel mutations in the OPN1LW and NR2R3 genes in a patient with blue cone monochromacy. ( 30707043 )
2019
3
Human L- and M-opsins restore M-cone function in a mouse model for human blue cone monochromacy. ( 29386880 )
2018
4
A 73,128A bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy: a case report. ( 29940872 )
2018
5
Publisher Correction: Gene-based Therapy in a Mouse Model of Blue Cone Monochromacy. ( 29540812 )
2018
6
Genotype determination of the OPN1LW/OPN1MW genes: novel disease-causing mechanisms in Japanese patients with blue cone monochromacy. ( 30065301 )
2018
7
Blue Cone Monochromacy Caused by the C203R Missense Mutation or Large Deletion Mutations. ( 30516820 )
2018
8
Blue Cone Monochromatism. ( 30578487 )
2018
9
Gene-based Therapy in a Mouse Model of Blue Cone Monochromacy. ( 28751656 )
2017
10
Novel OPN1LW/OPN1MW deletion mutations in 2 Japanese families with blue cone monochromacy. ( 27274860 )
2016
11
De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy. ( 27339364 )
2016
12
Blue Cone Monochromacy: Visual Function and Efficacy Outcome Measures for Clinical Trials. ( 25909963 )
2015
13
High-resolution microarray analysis unravels complex Xq28 aberrations in patients and carriers affected by X-linked blue cone monochromacy. ( 26153062 )
2015
14
Visual function and cortical organization in carriers of blue cone monochromacy. ( 23469117 )
2013
15
Blue cone monochromacy: causative mutations and associated phenotypes. ( 19421413 )
2009
16
Spectrum of color gene deletions and phenotype in patients with blue cone monochromacy. ( 10982039 )
2000
17
Bilateral macular atrophy in blue cone monochromacy (BCM) with loss of the locus control region (LCR) and part of the red pigment gene. ( 10427103 )
1999
18
Gene conversion between red and defective green opsin gene in blue cone monochromacy. ( 8666378 )
1995
19
Molecular genetics of human blue cone monochromacy. ( 2788922 )
1989
20
Mapping X-linked ophthalmic diseases. III. Provisional assignment of the locus for blue cone monochromacy to Xq28. ( 2888453 )
1987
21
Transient tritanopia experiment in blue cone monochromacy. ( 309557 )
1978

Variations for Blue Cone Monochromacy

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

76
# Symbol AA change Variation ID SNP ID
1 OPN1LW p.Cys203Arg VAR_009298
2 OPN1LW p.Pro307Leu VAR_009299
3 OPN1MW p.Cys203Arg VAR_004841 rs104894914
4 OPN1MW p.Trp177Arg VAR_064052 rs267606927

ClinVar genetic disease variations for Blue Cone Monochromacy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 OPN1LW NM_020061.5(OPN1LW): c.739C> T (p.Arg247Ter) single nucleotide variant Pathogenic rs104894912 GRCh37 Chromosome X, 153420209: 153420209
2 OPN1LW NM_020061.5(OPN1LW): c.739C> T (p.Arg247Ter) single nucleotide variant Pathogenic rs104894912 GRCh38 Chromosome X, 154154734: 154154734
3 OPN1LW NM_020061.5(OPN1LW): c.607T> C (p.Cys203Arg) single nucleotide variant Pathogenic rs121434621 GRCh37 Chromosome X, 153420077: 153420077
4 OPN1LW NM_020061.5(OPN1LW): c.607T> C (p.Cys203Arg) single nucleotide variant Pathogenic rs121434621 GRCh38 Chromosome X, 154154602: 154154602
5 OPN1LW NG_009105.2: g.(14209_14212)_(15675_15678)del deletion Pathogenic GRCh38 Chromosome X, 154153459: 154154928
6 OPN1MW NM_000513.2(OPN1MW): c.607T> C (p.Cys203Arg) single nucleotide variant Pathogenic rs104894914 GRCh37 Chromosome X, 153457207: 153457207
7 OPN1MW NM_000513.2(OPN1MW): c.607T> C (p.Cys203Arg) single nucleotide variant Pathogenic rs104894914 GRCh38 Chromosome X, 154191716: 154191716
8 OPN1MW NM_000513.2(OPN1MW): c.529T> C (p.Trp177Arg) single nucleotide variant Pathogenic rs267606927 GRCh37 Chromosome X, 153455662: 153455662
9 OPN1MW NM_000513.2(OPN1MW): c.529T> C (p.Trp177Arg) single nucleotide variant Pathogenic rs267606927 GRCh38 Chromosome X, 154190173: 154190173
10 OPN1LW; OPN1MW; OPSIN-LCR NC_000023.11: g.154118184_154191311del73128 deletion Pathogenic GRCh38 Chromosome X, 154118184: 154191311

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 transmembrane transporter complex GO:1902495 9.16 CNGA3 CNGB3
2 photoreceptor disc membrane GO:0097381 9.13 OPN1LW OPN1MW RHO
3 photoreceptor outer segment GO:0001750 8.92 CNGB3 OPN1LW OPN1MW RHO

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.91 CNGA3 CNGB3 NR2E3 OPN1LW OPN1MW RHO
2 response to stimulus GO:0050896 9.63 CNGA3 CNGB3 NR2E3 OPN1LW OPN1MW RHO
3 retinoid metabolic process GO:0001523 9.58 OPN1LW OPN1MW RHO
4 cellular response to light stimulus GO:0071482 9.5 OPN1LW OPN1MW RHO
5 cation transport GO:0006812 9.49 CNGA3 CNGB3
6 retina development in camera-type eye GO:0060041 9.48 NR2E3 RHO
7 positive regulation of cytokinesis GO:0032467 9.46 OPN1LW OPN1MW
8 detection of visible light GO:0009584 9.43 OPN1LW OPN1MW
9 protein-chromophore linkage GO:0018298 9.43 OPN1LW OPN1MW RHO
10 phototransduction GO:0007602 9.26 NR2E3 OPN1LW OPN1MW RHO
11 visual perception GO:0007601 9.1 CNGA3 CNGB3 NR2E3 OPN1LW OPN1MW RHO

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

# Name GO ID Score Top Affiliating Genes
1 cGMP binding GO:0030553 9.32 CNGA3 CNGB3
2 intracellular cAMP-activated cation channel activity GO:0005222 9.26 CNGA3 CNGB3
3 intracellular cGMP-activated cation channel activity GO:0005223 9.16 CNGA3 CNGB3
4 G protein-coupled photoreceptor activity GO:0008020 9.13 OPN1LW OPN1MW RHO
5 photoreceptor activity GO:0009881 8.8 OPN1LW OPN1MW RHO

Sources for Blue Cone Monochromacy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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