Retinitis Pigmentosa 59 (RP59)

Alias:
Rp59
Congenital Disorder of Glycosylation, Type 1bb
Congenital Disorder of Glycosylation 1bb
Retinitis Pigmentosa, Type 59
Cdg1bb
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Retinitis Pigmentosa 59, also known as rp59, is related to retinitis pigmentosa and retinitis. An important gene associated with Retinitis Pigmentosa 59 is DHDDS (Dehydrodolichyl Diphosphate Synthase Subunit), and among its related pathways/superpathways are Transport to the Golgi and subsequent modification and Diseases of glycosylation. Affiliated tissues include retina and eye, and related phenotypes are cystoid macular edema and reduced visual acuity
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
--
2
12
18

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
Function
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
Journal
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IF
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