{"entity":{"id":"shwachman-diamond-syndrome","kind":"term","name":"Shwachman-Diamond syndrome","aka":["SBDS deficiency"],"tldr":"Shwachman-Diamond syndrome is a rare inherited condition, usually caused by two faulty copies of the SBDS gene, that affects the pancreas, bones and bone marrow and raises the risk of myelodysplastic syndrome and leukaemia. Blood counts every three to four months and yearly marrow checks look for changes that would make a stem cell transplant the right step.","summary":"Autosomal recessive ribosomopathy; about 90% of cases biallelic SBDS, with EFL1 and, for SDS-like disease, DNAJC21 and SRP54. Presents in early childhood with pancreatic exocrine insufficiency, skeletal abnormalities, growth impairment, immune dysfunction and neutropenia. MDS/AML incidence is estimated at 10 to 30%, from early childhood into adulthood. Clonal haematopoiesis is present in 70% by 20: somatic EIF6 mutations are compensatory, biallelic TP53 mutations predict leukaemic progression.\n\nAACR 2024 surveillance: blood count with differential every three to four months, and annual bone marrow with a somatic gene panel.","asOf":"2026-11-04","wikipedia":"https://en.wikipedia.org/wiki/Shwachman–Diamond_syndrome","links":[{"label":"Maese, Clin Cancer Res 2024: surveillance for children with predisposition to haematopoietic malignancy (AACR update)","url":"https://doi.org/10.1158/1078-0432.ccr-24-0685"},{"label":"Orphanet ORPHA:811","url":"https://www.orpha.net/en/disease/detail/811"}],"tags":["gap-fill","hereditary"],"related":["germline-myeloid-predisposition"],"cancers":["mds","aml"],"sections":[],"technologies":["allogeneic-hsct","germline-testing"],"targets":["sbds"],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":["pancreatic-enzyme-replacement","hereditary-cancer-syndromes"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Orphanet ORPHA:811."],"category":"Genomics & genetics"},"route":"/terms/shwachman-diamond-syndrome/","neighbours":{"term":[{"id":"germline-myeloid-predisposition","kind":"term","name":"Germline predisposition to myeloid neoplasms (inherited predisposition to AML and MDS)","route":"/terms/germline-myeloid-predisposition/"},{"id":"hereditary-cancer-syndromes","kind":"term","name":"Hereditary cancer syndromes","route":"/terms/hereditary-cancer-syndromes/"},{"id":"pancreatic-enzyme-replacement","kind":"term","name":"Pancreatic enzyme replacement therapy (PERT, pancreatin, Creon) for pancreatic exocrine insufficiency: why and how to take it","route":"/terms/pancreatic-enzyme-replacement/"}],"cancer":[{"id":"aml","kind":"cancer","name":"Acute myeloid leukaemia","route":"/cancers/aml/"},{"id":"mds","kind":"cancer","name":"Myelodysplastic syndromes / neoplasms (MDS)","route":"/cancers/mds/"}],"technology":[{"id":"allogeneic-hsct","kind":"technology","name":"Allogeneic stem cell transplantation","route":"/technologies/allogeneic-hsct/"},{"id":"germline-testing","kind":"technology","name":"Germline (hereditary) testing","route":"/technologies/germline-testing/"}],"target":[{"id":"sbds","kind":"target","name":"SBDS","route":"/targets/sbds/"}]}}