Disease

Shwachman-Diamond syndrome 21

Gene

EFL1

Inheritance AR
Current Treatments oral pancreatic enzymes, fat-soluble vitamins, blood and/or platelet transfusions, granulocyte-colony stimulation factor, Hematopoietic Stem Cell Transplantation (HSCT) Bone marrow transplant
Evidence for Treatment guideline2
Non-Molecular Testing Availability no
Disease Frequency (per 100,000) 1.33
Genes Included in Disease Frequency DNAJC21, EFL1, SBDS, SRP54
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=Shwachman-diamond+Syndrome&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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