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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

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Shwachman syndrome in Orphanet.

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

Minelli A, Maserati E, Nicolis E, Zecca M, Sainati L, Longoni D, Lo Curto F, Menna G, Poli F, De Paoli E, Cipolli M, Locatelli F, Pasquali F, Danesino C
Leukemia 2009 Apr;23(4):708-11. Epub 2009 Jan 15 doi: 10.1038/leu.2008.369. PMID: 19148133
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
Goeteyn M, Oranje AP, Vuzevski VD, de Groot R, van Suijlekom-Smit LW
Arch Dermatol 1991 Feb;127(2):225-30. PMID: 1990988
Kent A, Murphy GH, Milla P
Arch Dis Child 1990 Dec;65(12):1349-52. doi: 10.1136/adc.65.12.1349. PMID: 1702966Free PMC Article
Aggett PJ, Harries JT, Harvey BA, Soothill JF
J Pediatr 1979 Mar;94(3):391-4. doi: 10.1016/s0022-3476(79)80578-8. PMID: 423020

Diagnosis

Kuijpers TW
Eur J Pediatr 2002 Oct;161 Suppl 1:S75-82. Epub 2002 Sep 13 doi: 10.1007/s00431-002-1009-6. PMID: 12373577
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
Dhar S, Anderton JM
J Bone Joint Surg Am 1994 Feb;76(2):278-82. doi: 10.2106/00004623-199402000-00018. PMID: 8113266
Bom EP, van der Sande FM, Tjon RT, Tham A, Hillen HF
J Comput Assist Tomogr 1993 May-Jun;17(3):474-6. PMID: 8491914
Hill RE, Durie PR, Gaskin KJ, Davidson GP, Forstner GG
Gastroenterology 1982 Jul;83(1 Pt 1):22-7. PMID: 7075943

Therapy

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
Ristola M, Savilahti E, Leirisalo-Repo M, Repo H
Eur J Pediatr 1991 Jan;150(3):173-8. doi: 10.1007/BF01963560. PMID: 2044587
Harper KJ, Sawyer WT
DICP 1989 Oct;23(10):782-3. doi: 10.1177/106002808902301009. PMID: 2815856
Ruutu P, Savilahti E, Repo H, Kosunen TU
Clin Exp Immunol 1984 Jul;57(1):249-55. PMID: 6744672Free PMC Article
Woods WG, Krivit W, Lubin BH, Ramsay NK
Am J Pediatr Hematol Oncol 1981 Winter;3(4):347-51. PMID: 7332065

Prognosis

Filippi L, Tronchin M, Pezzati M, Chiti G, Dani C, Vichi GF, Rubaltelli FF
J Pediatr Gastroenterol Nutr 2002 Feb;34(2):219-23. doi: 10.1097/00005176-200202000-00022. PMID: 11840044
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
Goeteyn M, Oranje AP, Vuzevski VD, de Groot R, van Suijlekom-Smit LW
Arch Dermatol 1991 Feb;127(2):225-30. PMID: 1990988

Clinical prediction guides

Maserati E, Minelli A, Olivieri C, Bonvini L, Marchi A, Bozzola M, Danesino C, Scappaticci S, Pasquali F
Cancer Genet Cytogenet 2000 Sep;121(2):167-71. doi: 10.1016/s0165-4608(00)00246-6. PMID: 11063802
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
Kent A, Murphy GH, Milla P
Arch Dis Child 1990 Dec;65(12):1349-52. doi: 10.1136/adc.65.12.1349. PMID: 1702966Free PMC Article
Woods WG, Krivit W, Lubin BH, Ramsay NK
Am J Pediatr Hematol Oncol 1981 Winter;3(4):347-51. PMID: 7332065

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