BCM
MCID: BLC001
MIFTS: 45
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Blue Cone Monochromacy (BCM)
Categories:
Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Blue Cone Monochromacy:
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:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Eye diseases Neuronal diseases
ICD10:
33
Orphanet: 58
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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... |
Human phenotypes related to Blue Cone Monochromacy:58 31 (show all 11)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:303700UMLS symptoms related to Blue Cone Monochromacy:photophobia |
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MalaCards organs/tissues related to Blue Cone Monochromacy:40
Retina,
Eye,
Testes
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Articles related to Blue Cone Monochromacy:(show top 50) (show all 91)
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ClinVar genetic disease variations for Blue Cone Monochromacy:6
UniProtKB/Swiss-Prot genetic disease variations for Blue Cone Monochromacy:73
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Search
GEO
for disease gene expression data for Blue Cone Monochromacy.
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Pathways related to Blue Cone Monochromacy according to GeneCards Suite gene sharing:
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Cellular components related to Blue Cone Monochromacy according to GeneCards Suite gene sharing:
Biological processes related to Blue Cone Monochromacy according to GeneCards Suite gene sharing:(show all 13)
Molecular functions related to Blue Cone Monochromacy according to GeneCards Suite gene sharing:
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