COLORBLINDNESS, PARTIAL, DEUTAN SERIES

General Information (adopted from Orphanet):

Synonyms, Signs: GREEN COLORBLINDNESS DEUTERANOMALY, INCLUDED
DEUTERANOPIA
DEUTAN COLORBLINDNESS
DCB
CBD
Number of Symptoms 4
OrphanetNr:
OMIM Id: 303800
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0011520) Deuteranomaly 1 / 7739
2
(HPO:0001419) X-linked recessive inheritance 189 / 7739
3
(OMIM) Green series defect 1 / 7739
4
(OMIM) Colorblindness, partial, deutan series 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Normal color vision in humans is trichromatic, being based on 3 classes of cone that are maximally sensitive to light at approximately 420 nm (blue cones; 613522), 530 nm (green cones; 300821), and 560 nm (red cones; 300822). ...
Clinical Description OMIM Studies using reflection densitometry and retinal microbeam experiments showed that 2 different pigments mediate red and green sensitivity. These are located in the cones, each cone containing only 1 type of pigment (Waaler, 1968).

Simunovic et ...

Molecular genetics OMIM Nathans et al. (1986) determined that whereas there is a single red pigment gene, green pigment genes vary in number among persons with normal color vision. The multiple green pigment genes are arranged in a head-to-tail tandem array. ...
Population genetics OMIM The frequency of red-green color vision defects among populations of northern European origin is around 8% of males and 0.5% of females, as determined by anomaloscopy in many studies. The frequency is lower in non-European populations (review by ...