Basal Laminar Drusen (BLD)

Alias:
Drusen of Bruch Membrane
Drusen, Early Adult-Onset, Grouped
Early Adult-Onset Grouped Drusen
Drusen Early Adult-Onset Grouped
Drusen, Cuticular
Cuticular Drusen
Drusen Cuticular
Bld
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Basal Laminar Drusen, also known as drusen of bruch membrane, is related to central serous chorioretinopathy and c3 glomerulopathy. An important gene associated with Basal Laminar Drusen is CFH (Complement Factor H), and among its related pathways/superpathways are Complement cascade and Diseases of hemostasis. Affiliated tissues include retina and eye, and related phenotypes are progressive visual loss and drusen
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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14
97
29

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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