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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.
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.
AACR 2024 surveillance: blood count with differential every three to four months, and annual bone marrow with a somatic gene panel.
In plain words · SBDS (Ribosome maturation protein SBDS) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Leukaemia, Myeloproliferative neoplasms and Acute myeloid leukaemia.
Showing the target this term concerns: SBDS.
Shares Germline predisposition to myeloid neoplasms (inherited predisposition to AML and MDS), Hereditary cancer syndromes, Allogeneic stem cell transplantation, Myelodysplastic syndromes / neoplasms (MDS) and the tag hereditary.
Shares Germline predisposition to myeloid neoplasms (inherited predisposition to AML and MDS), Hereditary cancer syndromes, Allogeneic stem cell transplantation, Myelodysplastic syndromes / neoplasms (MDS) and the tag hereditary.
Shares Germline predisposition to myeloid neoplasms (inherited predisposition to AML and MDS), Hereditary cancer syndromes, Allogeneic stem cell transplantation, Myelodysplastic syndromes / neoplasms (MDS) and the tag hereditary.
Shares Germline predisposition to myeloid neoplasms (inherited predisposition to AML and MDS), Hereditary cancer syndromes, Allogeneic stem cell transplantation, Myelodysplastic syndromes / neoplasms (MDS) and the tag hereditary.
Shares Hereditary cancer syndromes, Allogeneic stem cell transplantation, Germline (hereditary) testing and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing, Acute myeloid leukaemia and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
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