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Shwachman syndrome(SDS)

MedGen UID:
124418
Concept ID:
C0272170
Disease or Syndrome
Synonyms: Lipomatosis of pancreas, congenital; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian syndrome; Shwachman-Diamond Syndrome
SNOMED CT: Shwachman syndrome (89454001); Shwachman-Diamond syndrome (89454001); Metaphyseal chondrodysplasia with pancreatic insufficiency AND neutropenia (89454001); Metaphyseal dysplasia with malabsorption and neutropenia (89454001); Metaphyseal chondrodysplasia, Shwachman type (89454001); Schwachman's syndrome (89454001); Schwachman-Diamond syndrome (89454001); Schwachman-Bodian syndrome (89454001); Shwachman's syndrome (89454001); Congenital lipomatosis of pancreas (89454001); Schwachmann-Diamond syndrome (89454001)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Genes (locations): DNAJC21 (5p13.2); SBDS (7q11.21); SRP54 (14q13.2)
Related gene: EFL1
 
Monarch Initiative: MONDO:0009833
OMIM®: 260400
OMIM® Phenotypic series: PS260400
Orphanet: ORPHA811

Disease characteristics

Excerpted from the GeneReview: Shwachman-Diamond Syndrome
Shwachman-Diamond syndrome (SDS) is characterized by: exocrine pancreatic dysfunction with malabsorption, malnutrition, and growth failure; hematologic abnormalities with single- or multilineage cytopenias and susceptibility to myelodysplasia syndrome (MDS) and acute myelogeneous leukemia (AML); and bone abnormalities. In almost all affected children, persistent or intermittent neutropenia is a common presenting finding, often before the diagnosis of SDS is made. Short stature and recurrent infections are common. [from GeneReviews]
Authors:
Adam Nelson  |  Kasiani Myers   view full author information

Additional description

From OMIM
Shwachman-Diamond syndrome is a multisystem autosomal recessive disorder characterized by exocrine pancreatic dysfunction, bony metaphyseal dysostosis, and varying degrees of marrow dysfunction with cytopenias. Myelodysplastic syndrome and acute myeloid leukemia occur in up to one third of patients (summary by Dror and Freedman, 1999). For a review of Shwachman-Diamond syndrome, see Dror and Freedman (2002). Genetic Heterogeneity of Shwachman-Diamond Syndrome Shwachman-Diamond syndrome-2 (SDS2; 617941) is caused by mutation in the EFL1 gene (617538) on chromosome 15q25.  http://www.omim.org/entry/260400

Professional guidelines

PubMed

Hisha H, Kohdera U, Hirayama M, Yamada H, Iguchi-Uehira T, Fan TX, Cui YZ, Yang GX, Li Y, Sugiura K, Inaba M, Kobayashi Y, Ikehara S
Stem Cells 2002;20(4):311-9. doi: 10.1634/stemcells.20-4-311. PMID: 12110700

Recent clinical studies

Etiology

Bezzerri V, Cipolli M
Mol Diagn Ther 2019 Apr;23(2):281-290. doi: 10.1007/s40291-018-0368-2. PMID: 30413969
Nelson AS, Myers KC
Hematol Oncol Clin North Am 2018 Aug;32(4):687-700. Epub 2018 Jun 5 doi: 10.1016/j.hoc.2018.04.006. PMID: 30047420
Valli R, De Paoli E, Nacci L, Frattini A, Pasquali F, Maserati E
Pediatr Blood Cancer 2017 Aug;64(8) Epub 2017 Jan 28 doi: 10.1002/pbc.26454. PMID: 28130858
Myers KC, Davies SM, Shimamura A
Hematol Oncol Clin North Am 2013 Feb;27(1):117-28, ix. Epub 2012 Nov 3 doi: 10.1016/j.hoc.2012.10.003. PMID: 23351992Free PMC Article
Dall'oca C, Bondi M, Merlini M, Cipolli M, Lavini F, Bartolozzi P
Musculoskelet Surg 2012 Aug;96(2):81-8. Epub 2011 Dec 27 doi: 10.1007/s12306-011-0174-z. PMID: 22201042

Diagnosis

Bezzerri V, Cipolli M
Mol Diagn Ther 2019 Apr;23(2):281-290. doi: 10.1007/s40291-018-0368-2. PMID: 30413969
Nelson AS, Myers KC
Hematol Oncol Clin North Am 2018 Aug;32(4):687-700. Epub 2018 Jun 5 doi: 10.1016/j.hoc.2018.04.006. PMID: 30047420
Ikuse T, Kudo T, Arai K, Fujii Y, Ida S, Ishii T, Mushiake S, Nagata K, Tamai H, Toki A, Tomomasa T, Ushijima K, Yanagi T, Yonekura T, Taguchi T, Shimizu T
Pediatr Int 2018 Aug;60(8):719-726. Epub 2018 Jul 10 doi: 10.1111/ped.13601. PMID: 29804317
Myers KC, Davies SM, Shimamura A
Hematol Oncol Clin North Am 2013 Feb;27(1):117-28, ix. Epub 2012 Nov 3 doi: 10.1016/j.hoc.2012.10.003. PMID: 23351992Free PMC Article
Dror Y, Donadieu J, Koglmeier J, Dodge J, Toiviainen-Salo S, Makitie O, Kerr E, Zeidler C, Shimamura A, Shah N, Cipolli M, Kuijpers T, Durie P, Rommens J, Siderius L, Liu JM
Ann N Y Acad Sci 2011 Dec;1242:40-55. doi: 10.1111/j.1749-6632.2011.06349.x. PMID: 22191555

Therapy

Giri N, Alter BP, Penrose K, Falk RT, Pan Y, Savage SA, Williams M, Kemp TJ, Pinto LA
Am J Hematol 2015 Aug;90(8):702-8. Epub 2015 May 28 doi: 10.1002/ajh.24046. PMID: 25963299Free PMC Article
Terlizzi V, Zito E, Mozzillo E, Raia V, Franzese A
Diabetes Technol Ther 2015 Jan;17(1):64-7. doi: 10.1089/dia.2014.0184. PMID: 25269020
Dall'oca C, Bondi M, Merlini M, Cipolli M, Lavini F, Bartolozzi P
Musculoskelet Surg 2012 Aug;96(2):81-8. Epub 2011 Dec 27 doi: 10.1007/s12306-011-0174-z. PMID: 22201042
Stormon MO, Ip WF, Ellis L, Schibli S, Rommens JM, Durie PR
J Pediatr Gastroenterol Nutr 2010 Jul;51(1):8-13. doi: 10.1097/MPG.0b013e3181d67e78. PMID: 20512054
Hisha H, Kohdera U, Hirayama M, Yamada H, Iguchi-Uehira T, Fan TX, Cui YZ, Yang GX, Li Y, Sugiura K, Inaba M, Kobayashi Y, Ikehara S
Stem Cells 2002;20(4):311-9. doi: 10.1634/stemcells.20-4-311. PMID: 12110700

Prognosis

Murakami J
Pediatr Int 2018 Aug;60(8):683. doi: 10.1111/ped.13657. PMID: 30160037
Ikuse T, Kudo T, Arai K, Fujii Y, Ida S, Ishii T, Mushiake S, Nagata K, Tamai H, Toki A, Tomomasa T, Ushijima K, Yanagi T, Yonekura T, Taguchi T, Shimizu T
Pediatr Int 2018 Aug;60(8):719-726. Epub 2018 Jul 10 doi: 10.1111/ped.13601. PMID: 29804317
Delaporta P, Sofocleous C, Economou M, Makis A, Kostaridou S, Kattamis A
Pediatr Blood Cancer 2017 Nov;64(11) Epub 2017 May 16 doi: 10.1002/pbc.26630. PMID: 28509441
Valli R, De Paoli E, Nacci L, Frattini A, Pasquali F, Maserati E
Pediatr Blood Cancer 2017 Aug;64(8) Epub 2017 Jan 28 doi: 10.1002/pbc.26454. PMID: 28130858
Mack DR, Forstner GG, Wilschanski M, Freedman MH, Durie PR
Gastroenterology 1996 Dec;111(6):1593-602. doi: 10.1016/s0016-5085(96)70022-7. PMID: 8942739

Clinical prediction guides

Delaporta P, Sofocleous C, Economou M, Makis A, Kostaridou S, Kattamis A
Pediatr Blood Cancer 2017 Nov;64(11) Epub 2017 May 16 doi: 10.1002/pbc.26630. PMID: 28509441
Perobelli S, Alessandrini F, Zoccatelli G, Nicolis E, Beltramello A, Assael BM, Cipolli M
Neuroimage Clin 2015;7:721-31. Epub 2015 Feb 27 doi: 10.1016/j.nicl.2015.02.014. PMID: 25844324Free PMC Article
Myers KC, Rose SR, Rutter MM, Mehta PA, Khoury JC, Cole T, Harris RE
J Pediatr 2013 Jun;162(6):1235-40, 1240.e1. Epub 2013 Jan 8 doi: 10.1016/j.jpeds.2012.11.062. PMID: 23305959Free PMC Article
Perobelli S, Nicolis E, Assael BM, Cipolli M
Am J Med Genet A 2012 Mar;158A(3):567-73. Epub 2012 Feb 7 doi: 10.1002/ajmg.a.35211. PMID: 22315206
Ginzberg H, Shin J, Ellis L, Morrison J, Ip W, Dror Y, Freedman M, Heitlinger LA, Belt MA, Corey M, Rommens JM, Durie PR
J Pediatr 1999 Jul;135(1):81-8. doi: 10.1016/s0022-3476(99)70332-x. PMID: 10393609

Recent systematic reviews

Ikuse T, Kudo T, Arai K, Fujii Y, Ida S, Ishii T, Mushiake S, Nagata K, Tamai H, Toki A, Tomomasa T, Ushijima K, Yanagi T, Yonekura T, Taguchi T, Shimizu T
Pediatr Int 2018 Aug;60(8):719-726. Epub 2018 Jul 10 doi: 10.1111/ped.13601. PMID: 29804317

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