Autosomal Recessive Isolated Optic Atrophy

Alias:
Autosomal Recessive Non-Syndromic Optic Atrophy
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Autosomal Recessive Isolated Optic Atrophy, also known as autosomal recessive non-syndromic optic atrophy, is related to optic atrophy 9 and optic atrophy 7 with or without auditory neuropathy. An important gene associated with Autosomal Recessive Isolated Optic Atrophy is ACO2 (Aconitase 2). Affiliated tissues include eye.
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
4
17
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Medical Symptom

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

Gene & Mutation

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Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

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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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