Doyne Honeycomb Retinal Dystrophy (DHRD)

Alias:
Malattia Leventinese
Dhrd
Doyne Honeycomb Degeneration of Retina
Dominant Radial Drusen
Familial Drusen
Dominant Drusen
Dystrophy, Retinal, Doyne Honeycomb
Mlvt
Dhd
Ml
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Doyne Honeycomb Retinal Dystrophy, also known as malattia leventinese, is related to c3 glomerulopathy and fundus dystrophy. An important gene associated with Doyne Honeycomb Retinal Dystrophy is EFEMP1 (EGF Containing Fibulin Extracellular Matrix Protein 1), and among its related pathways/superpathways are Phospholipase-C Pathway and Extracellular matrix organization. Affiliated tissues include retina and eye, and related phenotypes are yellow/white lesions of the macula and macular drusen
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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Medical Symptom

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Description
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Gene & Mutation

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Disease Model

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MGI
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References Literature

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