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Syndromic Rod-Cone Dystrophy

Alias:
Syndromic Retinitis Pigmentosa
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Syndromic Rod-Cone Dystrophy, also known as syndromic retinitis pigmentosa, is related to retinitis pigmentosa and retinal dystrophy, juvenile cataracts, and short stature syndrome. An important gene associated with Syndromic Rod-Cone Dystrophy is EPG5 (Ectopic P-Granules 5 Autophagy Tethering Factor). Affiliated tissues include eye and bone marrow.
Related ID：
MALACARDS：SYN149

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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4
18
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SYN149

Medical Symptom

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

Gene & Mutation

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Related Drugs

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CAS Number
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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
No Data Found!
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