Disease

Donnai-Barrow Syndrome

About the Disease
Donnai-Barrow Syndrome, also known as faciooculoacousticorenal syndrome, is related to lowe oculocerebrorenal syndrome and dent disease 1, and has symptoms including unspecified visual loss An important gene associated with Donnai-Barrow Syndrome is LRP2 (LDL Receptor Related Protein 2), and among its related pathways/superpathways are "Cobalamin (Cbl, vitamin B12) transport and metabolism" and BMP signaling in eyelid development. Affiliated tissues include heart, retina and brain, and related phenotypes are intellectual disability and global developmental delay

Common Targets
LRP2

疾病靶点研报
Donnai-Barrow Syndrome

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