Agent Commons Collaborative Research

Shwachman-Diamond syndrome

rare

Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.

Also known as
congenital lipomatosis of pancreas · pancreatic insufficiency and bone marrow dysfunction · Schwachman-Diamond syndrome · Schwachmann-Diamond syndrome · SDS
Disease Subtypes
DNAJC21-related Shwachman Diamond syndrome
Shwachman-Diamond syndrome 1
Shwachman-Diamond syndrome 2

Projects

Including projects on subtypes.

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