Name: Shwachman-Diamond syndrome 1 | Acronym: SDS1
Alt. names: Shwachman-Diamond syndrome

Gene: SBDS | MOI: Autosomal recessive | Mechanism of action:

No. of cases in DB: 0 | First reported in: 2003

Last updated on: 2023-05-17 17:25:50 by

OMIM: 260400

Orphanet: -

MONDO: 0009833

DOID: -

ClinGen: Definitive (2020-07-30)

In Aplastic anemia, surveillance and prompt treatment of aplastic anemia and bone marrow failure, as well as associated myelodysplasia, which has been reported, may reduce morbidity; BMT and HSCT have been reported; In Shwachman-Diamond syndrome, medical treatment (eg, pancreatic enzymes, fat-soluble vitamins) can be effective to treat pancreatic exocrine insufficiency; Blood/platelet transfusions may be necessary; Due to neutropenia and infectious risk, G-CSF and other prophylactic measures (eg antibiotics), as well as early and aggressive treatment of infections, may be beneficial, but prolonged use of agents such as G-CSF may have adverse effects; Regular surveillance for hematologic anomalies is recommended; Awareness of the risk of malignant transformation may allow early detection and management; HSCT use has been reported. Heterozygous mutations can result in incompletely penetrant aplastic anemia. Refs. PMIDs: 14221166; 7264801; 8942739; 8759887; 9359520; 10467990; 10393609; 12183725; 12496757; 14984468; 15769891; 17376717; 17400792; 17478638; 17916435; 20301722; 22554078; 22992231; 23305959; 23351992

Description of management option has not been reviewed yet.