Categories: Genetic diseases, Rare diseases, Eye diseases
Aliases & Descriptions for Achromatopsia-2:
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases
OMIM:50 Total colorblindness, also referred to as rod monochromacy or complete achromatopsia, is a rare congenital autosomal... (216900) more...
MalaCards based summary: Achromatopsia-2, also known as achromatopsia 2, is related to achromatopsia-3 and achromatopsia, and has symptoms including photophobia, photophobia and photophobia. An important gene associated with Achromatopsia-2 is CNGA3 (Cyclic Nucleotide Gated Channel Alpha 3). Affiliated tissues include retina and eye.
NIH Rare Diseases:46 Achromatopsia 2 is a condition that affects the color vision. most people have complete achromatopsia which is characterized by a total absence of color vision (only able to see black, white and shades of gray). rarely, affected people may have incomplete achromatopsia which is associated with some color discrimination. other common signs and symptoms include reduced visual acuity, involuntary back-and-forth eye movements, increased sensitivity to light (photophobia), and hyperopia (farsightedness). achromatopsia 2 is caused by changes (mutations) in the cnga3 gene and is inherited in an autosomal recessive manner. although color discrimination cannot be improved, treatments are available to address some of the other associated symptoms. last updated: 2/19/2016
UniProtKB/Swiss-Prot:68 Achromatopsia 2: An ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus.
Diseases in the Achromatopsia family:
Diseases related to Achromatopsia-2 via text searches within MalaCards or GeneCards Suite gene sharing:
UMLS symptoms related to Achromatopsia-2:photophobia
MalaCards organs/tissues related to Achromatopsia-2:34
Search GEO for disease gene expression data for Achromatopsia-2.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet