Categories: Genetic diseases, Rare diseases, Eye diseases
Aliases & Descriptions for Achromatopsia-4:
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases
OMIM:50 Achromatopsia, also referred to as rod monochromacy, is an autosomal recessive ocular disorder characterized by total... (613856) more...
MalaCards based summary: Achromatopsia-4, also known as achromatopsia 4, is related to achromatopsia-2 and achromatopsia, and has symptoms including visual impairment, photophobia and nystagmus. An important gene associated with Achromatopsia-4 is GNAT2 (G Protein Subunit Alpha Transducin 2). Affiliated tissues include retina.
UniProtKB/Swiss-Prot:68 Achromatopsia 4: 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-4 via text searches within MalaCards or GeneCards Suite gene sharing:
MalaCards organs/tissues related to Achromatopsia-4:34
Clinvar genetic disease variations for Achromatopsia-4:5
Search GEO for disease gene expression data for Achromatopsia-4.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet