Shwachman-Diamond Syndrome 1 (SDS1)

Shwachman-Diamond Syndrome 1(来自ICD-11)

别称:

Shwachman-Diamond Syndrome

Shwachman Syndrome

Shwachman-Bodian-Diamond Syndrome

Pancreatic Insufficiency and Bone Marrow Dysfunction

Sds

Shwachman-Bodian Syndrome

Sds1

Shwachman-Diamond Type Metaphyseal Dysplasia

Metaphyseal Chondrodysplasia, Shwachman Type

Lipomatosis of Pancreas, Congenital

Congenital Lipomatosis of Pancreas

Shwachman-Diamond-Oski Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Shwachman-Diamond Syndrome 1, also known as shwachman-diamond syndrome, is related to severe congenital neutropenia 8 and aplastic anemia. 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 Nervous system development. The drugs Fludarabine and Alemtuzumab have been mentioned in the context of this disorder. Affiliated tissues include bone marrow and bone, and related phenotypes are anemia and abnormality of the skeletal system

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