Achromatopsia 7 (ACHM7)

Alias:
Achm7
Achromatopsia, Type 7
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Achromatopsia 7, also known as achm7, is related to solar retinopathy and retinal cone dystrophy 3b. An important gene associated with Achromatopsia 7 is ATF6 (Activating Transcription Factor 6), and among its related pathways/superpathways are Visual Cycle in Retinal Rods and NO/cGMP/PKG mediated neuroprotection. The drugs Phenylbutyric acid and Glycerin have been mentioned in the context of this disorder. Affiliated tissues include retina, and related phenotypes are reduced visual acuity and photophobia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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20
141
2

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Mutations
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Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
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References Literature

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