Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome (RDCCAS)

Alias:
Progressive Retinal Dystrophy Due to Retinol Transport Defect
Rdccas
Dystrophy, Retinal, Iris Coloboma, and Comedogenic Acne Syndrome
Retinol Dystrophy-Iris Coloboma-Comedogenic Acne Syndrome
Acne Vulgaris
Acne
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome, is also known as progressive retinal dystrophy due to retinol transport defect, and has symptoms including exanthema and pruritus. An important gene associated with Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome is RBP4 (Retinol Binding Protein 4). The drugs Calcipotriol and Sarecycline have been mentioned in the context of this disorder. Affiliated tissues include eye and skin, and related phenotypes are microcornea and iris coloboma
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
<1/1000000
1
10
5

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
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IF
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