Preferred Label : Blue cone monochromacy;
Symbol : BCM;
CISMeF acronym : BCM; CBBM; COD5;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Blue cone monochromatism; Colorblindness, blue-mono-cone-monochromatic type; CBBM;
Included titles and symbols : Cone dystrophy 5, X-linked; COD5;
Description : 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).;
Inheritance : X-linked recessive;
Molecular basis : Caused by mutation in the controller of the OPN1LW and OPN1MW genes (300824); Caused by mutation in both the opsin 1, long-wave-sensitive (red cone pigment) gene
(OPN1LW, 300822.0001) and opsin 1, medium-wave-sensitive (green cone pigment) gene
(OPN1MW, 300821.0002);
Prefixed ID : #303700;
Origin ID : 303700;
UMLS CUI : C0339537;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
