Achromatopsia (ACHM)
Alias:
Total Color Blindness
Rod Monochromatism
Rod Monochromacy
Achm
Complete or Incomplete Color Blindness
Pingelapese Blindness
Achromatopsia 2
Achromatopsia 3
Achromatopsia 1
Monochromatism
Achromatism
Basic Information
Medical Symptom
Gene & Mutation
Drugs
Disease Model
References
Achromatopsia, also known as total color blindness, is related to achromatopsia 2 and achromatopsia 3, and has symptoms including photophobia An important gene associated with Achromatopsia is PDE6C (Phosphodiesterase 6C), and among its related pathways/superpathways are Olfactory Signaling Pathway and CREB Pathway. The drugs Phenylbutyric acid and Glycerin have been mentioned in the context of this disorder. Affiliated tissues include eye and retina, and related phenotypes are photophobia and color vision defect
Basic Information
Inheritance
Age Of Onset
Prevalence
Related Gene
Related Models
Reference
MALACARDS
AR
Newborn
1-9/100000
9
48
91
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
#
Gene
Function
Score
Count
No data available
Drugs
Name
CAS Number
Status
Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available
References
Title
PMID
Journal
Year
IF
No Data Found!
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Comparison
Al agent
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