COLORBLINDNESS, PARTIAL, PROTAN SERIES

General Information (adopted from Orphanet):

Synonyms, Signs: RED COLORBLINDNESS PROTANOMALY, INCLUDED
PROTANOPIA
CBP
Number of Symptoms 3
OrphanetNr:
OMIM Id: 303900
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:0200018) Protanomaly 1 / 7739
2
(OMIM) Red series defect 1 / 7739
3
(HPO:0001419) X-linked recessive inheritance 189 / 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 Several early observations supported a 2-locus model for the common type of red-green colorblindness. First, the data on relative frequency of colorblindness in males and females collected in Norway by Waaler (1927) and in Switzerland by von Planta ...