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 57 12 59 75 37 13 15
Blue Cone Monochromatism 57 76 53 59 75
Cbbm 57 53 75
Bcm 57 53 75
Cone Dystrophy 5, X-Linked 6 73
Colorblindness, Blue-Mono-Cone-Monochromatic Type; Cbbm 57
Colorblindness, Blue-Mono-Cone-Monochromatic Type 57
Color Blindness Blue Mono Cone Monochromatic Type 53
Color Blindness, Blue Monocone Monochromatic Type 59
Colorblindness Blue-Mono-Cone-Monochromatic Type 75
Achromatopsia Incomplete, X-Linked 73
Achromatopsia Incomplete X-Linked 53
Incomplete Achromatopsia X-Linked 53
X-Chromosome-Linked Achromatopsia 53
X-Linked Achromatopsia Incomplete 53
X-Linked Incomplete Achromatopsia 59
Atypical X-Linked Achromatopsia 59
Monochromacy, Blue Cone ) 40
Cone Dystrophy 5 X-Linked 75
S Cone Monochromatism 59
S Cone Monochromacy 59
Cone Monochromatism 73
Cone Dystrophy 5 75
Cod5 75

Characteristics:

Orphanet epidemiological data:

59
blue cone monochromatism
Inheritance: X-linked recessive; Prevalence: 1-9/100000 (Worldwide); Age of onset: Infancy; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
progressive disease is seen in some patients


HPO:

32
blue cone monochromacy:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

OMIM 57 303700
Disease Ontology 12 DOID:0050679
Orphanet 59 ORPHA16
MESH via Orphanet 45 C536238 C538165
UMLS via Orphanet 74 C0339537 C2931753
ICD10 via Orphanet 34 H53.5
KEGG 37 H00974

Summaries for Blue Cone Monochromacy

UniProtKB/Swiss-Prot : 75 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, eye and breast, and related phenotypes are visual impairment and abnormality of retinal pigmentation

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 : 53 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 : 57 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 : 76 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 31)
# Related Disease Score Top Affiliating Genes
1 tritanopia 30.5 CNGB3 RHO
2 achromatopsia 29.9 CNGA3 CNGB3 OPN1LW OPN1MW OPSIN-LCR TEX28
3 nystagmus 1, congenital, x-linked 11.4
4 oligocone trichromacy 10.1 CNGA3 CNGB3
5 achromatopsia 4 10.1 CNGA3 CNGB3
6 jalili syndrome 10.1 CNGA3 CNGB3
7 achromatopsia 2 10.1 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 1 10.1 CNGB3 RHO
13 cone-rod dystrophy 6 10.1 CNGA3 CNGB3
14 retinitis pigmentosa 26 10.1 CNGA3 CNGB3
15 breast cancer 10.0
16 ocular dominance 10.0
17 breast disease 10.0
18 peritonitis 10.0
19 achromatopsia 3 10.0 CNGA3 CNGB3
20 pathologic nystagmus 10.0 CNGA3 CNGB3 RHO
21 color vision deficiency 10.0 CNGA3 OPN1LW OPN1MW OPSIN-LCR
22 fundus dystrophy 10.0 CNGA3 CNGB3 RHO
23 myopia 10.0 OPN1LW OPN1MW RHO
24 color blindness 10.0 CNGA3 CNGB3 OPN1LW OPN1MW
25 cone dystrophy 9.9 CNGB3 OPN1LW OPN1MW RHO
26 retinitis pigmentosa 9.8 CNGA3 OPN1LW OPN1MW OPSIN-LCR RHO
27 ewing sarcoma 9.8 CNGA3 CNGB3 CYCS RHO
28 leber congenital amaurosis 9.8 CNGA3 CNGB3 RHO
29 parasitic protozoa infectious disease 9.7 TEX28P1 TEX28P2
30 colorblindness, partial, protan series 9.2 CNGB3 OPN1LW OPN1MW RHO TEX28 TEX28P1
31 red-green color blindness 9.2 CNGB3 OPN1LW OPN1MW RHO TEX28 TEX28P1

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



Diseases related to Blue Cone Monochromacy

Symptoms & Phenotypes for Blue Cone Monochromacy

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Blue Cone Monochromacy:

59 32 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000505
2 abnormality of retinal pigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0007703
3 photophobia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000613
4 corneal dystrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001131
5 abnormal electroretinogram 59 32 occasional (7.5%) Occasional (29-5%) HP:0000512
6 blue cone monochromacy 59 32 hallmark (90%) Very frequent (99-80%) HP:0007939
7 nystagmus 32 frequent (33%) HP:0000639
8 myopia 32 HP:0000545
9 reduced visual acuity 32 HP:0007663
10 abnormality of macular pigmentation 32 occasional (7.5%) HP:0008002
11 pendular nystagmus 32 HP:0012043

UMLS symptoms related to Blue Cone Monochromacy:


photophobia

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:

41
Retina, Eye, Breast

Publications for Blue Cone Monochromacy

Articles related to Blue Cone Monochromacy:

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

Variations for Blue Cone Monochromacy

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

75
# 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:

# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.91 CNGA3 CNGB3 OPN1LW OPN1MW RHO TNFRSF17
2 response to stimulus GO:0050896 9.77 CNGA3 CNGB3 OPN1LW OPN1MW RHO
3 retinoid metabolic process GO:0001523 9.5 OPN1LW OPN1MW RHO
4 positive regulation of cytokinesis GO:0032467 9.46 OPN1LW OPN1MW
5 phototransduction GO:0007602 9.43 OPN1LW OPN1MW RHO
6 detection of visible light GO:0009584 9.4 OPN1LW OPN1MW
7 cellular response to light stimulus GO:0071482 9.33 OPN1LW OPN1MW RHO
8 protein-chromophore linkage GO:0018298 9.13 OPN1LW OPN1MW RHO
9 visual perception GO:0007601 9.02 CNGA3 CNGB3 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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