Shwachman-Bodian-Diamond Syndrome

About the Disease
Shwachman-Diamond Syndrome 1, also known as shwachman-diamond syndrome, is related to exocrine pancreatic insufficiency and severe congenital neutropenia 8. An important gene associated with Shwachman-Diamond Syndrome 1 is SBDS (SBDS Ribosome Maturation Factor), and among its related pathways/superpathways are Metabolism of proteins and Viral mRNA Translation. The drugs Lenograstim and Vidarabine have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and pancreas, and related phenotypes are exocrine pancreatic insufficiency and failure to thrive

Common Targets
ALDH2 | EFL1 | DNA-Directed RNA Polymerase (nonspecified subtype) | CALM1 | SRP54 | CFTR | FAM111B | U2AF1 | SBDS

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