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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).
Autosomal recessive inheritance (Orphanet)
 
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]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Genetically Related (Allelic) Disorders  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  Chapter Notes  |  References
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

Treatment of Shwachman syndrome by Japanese herbal medicine (Juzen-taiho-to): stimulatory effects of its fatty acids on hemopoiesis in patients.
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

The isochromosome i(7)(q10) carrying c.258+2t>c mutation of the SBDS gene does not promote development of myeloid malignancies in patients with Shwachman syndrome.
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
Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar.
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
Correlation of intestinal lactulose permeability with exocrine pancreatic dysfunction.
Mack DR, Flick JA, Durie PR, Rosenstein BJ, Ellis LE, Perman JA
J Pediatr 1992 May;120(5):696-701. doi: 10.1016/s0022-3476(05)80230-6. PMID: 1578303
Ichthyosis, exocrine pancreatic insufficiency, impaired neutrophil chemotaxis, growth retardation, and metaphyseal dysplasia (Shwachman syndrome). Report of a case with extensive skin lesions (clinical, histological, and ultrastructural findings).
Goeteyn M, Oranje AP, Vuzevski VD, de Groot R, van Suijlekom-Smit LW
Arch Dermatol 1991 Feb;127(2):225-30. PMID: 1990988
Psychological characteristics of children with Shwachman syndrome.
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

Diagnosis

Clinical symptoms and neutropenia: the balance of neutrophil development, functional activity, and cell death.
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
Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar.
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
Orthopaedic features of Shwachman syndrome. A report of two cases.
Dhar S, Anderton JM
J Bone Joint Surg Am 1994 Feb;76(2):278-82. doi: 10.2106/00004623-199402000-00018. PMID: 8113266
Shwachman syndrome: CT and MR diagnosis.
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
Steatorrhea and pancreatic insufficiency in Shwachman syndrome.
Hill RE, Durie PR, Gaskin KJ, Davidson GP, Forstner GG
Gastroenterology 1982 Jul;83(1 Pt 1):22-7. PMID: 7075943

Therapy

Treatment of Shwachman syndrome by Japanese herbal medicine (Juzen-taiho-to): stimulatory effects of its fatty acids on hemopoiesis in patients.
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
Increased whole blood chemiluminescence in patients with Shwachman syndrome: therapy trial with thiamine and alpha-tocopherol.
Ristola M, Savilahti E, Leirisalo-Repo M, Repo H
Eur J Pediatr 1991 Jan;150(3):173-8. doi: 10.1007/BF01963560. PMID: 2044587
Malabsorption of flucytosine in a pediatric patient with Shwachman syndrome.
Harper KJ, Sawyer WT
DICP 1989 Oct;23(10):782-3. doi: 10.1177/106002808902301009. PMID: 2815856
Constant defect in neutrophil locomotion but with age decreasing susceptibility to infection in Shwachman syndrome.
Ruutu P, Savilahti E, Repo H, Kosunen TU
Clin Exp Immunol 1984 Jul;57(1):249-55. PMID: 6744672Free PMC Article
Aplastic anemia associated with the Shwachman syndrome. In vivo and in vitro observations.
Woods WG, Krivit W, Lubin BH, Ramsay NK
Am J Pediatr Hematol Oncol 1981 Winter;3(4):347-51. PMID: 7332065

Prognosis

Shwachman syndrome in a preterm newborn associated with transient diabetes mellitus.
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
Shwachman syndrome: exocrine pancreatic dysfunction and variable phenotypic expression.
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
Ichthyosis, exocrine pancreatic insufficiency, impaired neutrophil chemotaxis, growth retardation, and metaphyseal dysplasia (Shwachman syndrome). Report of a case with extensive skin lesions (clinical, histological, and ultrastructural findings).
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

Isochromosome (7)(q10) in Shwachman syndrome without MDS/AML and role of chromosome 7 anomalies in myeloproliferative disorders.
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
Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar.
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
Psychological characteristics of children with Shwachman syndrome.
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
Aplastic anemia associated with the Shwachman syndrome. In vivo and in vitro observations.
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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