Autosomal Dominant Optic Atrophy, Classic Form

Alias:
Autosomal Dominant Optic Atrophy Classic Form
Autosomal Dominant Optic Atrophy, Kjer Type
Optic Atrophy Type 1
Kjer Optic Atrophy
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Autosomal Dominant Optic Atrophy, Classic Form, also known as autosomal dominant optic atrophy classic form, is related to optic atrophy 1 and autosomal dominant optic atrophy. An important gene associated with Autosomal Dominant Optic Atrophy, Classic Form is OPA1 (OPA1 Mitochondrial Dynamin Like GTPase), and among its related pathways/superpathways is Programmed Cell Death. Affiliated tissues include eye and skeletal muscle, and related phenotypes are visual impairment and optic atrophy
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Unknown
1-5/10000
2
25
16

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
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Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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