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| | __NOTOC__ |
| '''For patient information click [[{{PAGENAME}} (patient information)|here]]''' | | '''For patient information click [[{{PAGENAME}} (patient information)|here]]''' |
| {{Infobox_Disease | | | {{Infobox_Disease | |
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| OMIM = 260400 | | | OMIM = 260400 | |
| MedlinePlus = | | | MedlinePlus = | |
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| {{CMG}} | | {{CMG}} |
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| {{SK}} Congenital lipomatosis of pancreas; | | {{SK}} Congenital lipomatosis of pancreas; Shwachman Bodian Diamond syndrome |
| ==Diagnosis==
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| | == [[Shwachman-Diamond syndrome overview|Overview]] == |
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| ==History== | | == [[Shwachman-Diamond syndrome historical perspective|Historical Perspective]]== |
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| | == [[Shwachman-Diamond syndrome classification|Classification]] == |
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| | == [[Shwachman-Diamond syndrome pathophysiology|Pathophysiology]] == |
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| ==See also== | | == [[Shwachman-Diamond syndrome causes|Causes]] == |
| * [[Cystic fibrosis]]
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| | == [[Shwachman-Diamond syndrome differential diagnosis|Differentiating Shwachman-Diamond Syndrome from other Diseases]] == |
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| | == [[Shwachman-Diamond syndrome epidemiology and demographics|Epidemiology and Demographics]]== |
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| | == [[Shwachman-Diamond syndrome risk factors|Risk Factors]] == |
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| | == [[Shwachman-Diamond syndrome natural history, complications and prognosis|Natural History, Complications and Prognosis]] == |
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| | == Diagnosis == |
| | [[Shwachman-Diamond syndrome history and symptoms|History and Symptoms]] | [[Shwachman-Diamond syndrome physical examination|Physical Examination]] | [[Shwachman-Diamond syndrome laboratory findings|Laboratory Findings]] | [[Shwachman-Diamond syndrome CT|CT]] | [[Shwachman-Diamond syndrome MRI|MRI]] | [[Shwachman-Diamond syndrome echocardiography or ultrasound|Echocardiography or Ultrasound]] | [[Shwachman-Diamond syndrome other imaging findings|Other Imaging Findings]] | [[Shwachman-Diamond syndrome other diagnostic studies|Other Diagnostic Studies]] |
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| ==References== | | == Treatment == |
| * {{cite journal | author= Shammas C, Menne TF, Hilcenko C, Michell SR, Goyenechea B, Boocock GR, Durie PR, Rommens JM, Warren AJ | title=Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond Syndrome. | journal=J Biol Chem. | year=2005 | pages=19221-9 | volume=280 | issue=19 | id=PMID 15701631}}
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| * {{cite journal | author= Cesaro S, Oneto R, Messina C, Gibson BE, Buzyn A, Steward C, Gluckman E, Breddius R, Boogaerts M, Vermylen C, Veys P, Marsh J, Badell I, Michel G, Gungor T, Niethammer D, Bordigoni P, Oswald C, Favre C, Passweg J, Dini G | title=Haematopoietic stem cell transplantation for Shwachman-Diamond disease: a study from the European Group for blood and marrow transplantation. | journal=Br J Haematol | year=2005 | pages=231-6 | volume=31 | issue=2 | id=PMID 16197455}}
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| * {{cite journal | author=Donadieu J, Michel G, Merlin E, Bordigoni P, Monteux B, Beaupain B, Leverger G, Laporte JP, Hermine O, Buzyn A, Bertrand Y, Casanova JL, Leblanc T, Gluckman E, Fischer A, Stephan JL | title=Hematopoietic stem cell transplantation for Shwachman-Diamond syndrome: experience of the French neutropenia registry. | journal=Bone Marrow Transplant | year=2005 | pages=787-92 | volume=36 | issue=9 | id=PMID 16151425}}
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| * {{cite journal | author=Austin KM, Leary RJ, Shimamura A | title=The Shwachman-Diamond SBDS protein localizes to the nucleolus. | journal=Blood | year=2005 | pages=1253-8 | volume=106 | issue=4 | id=PMID 15860664}}
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| * {{cite journal | author=Makitie O, Ellis L, Durie PR, Morrison JA, Sochett EB, Rommens JM, Cole WG | title=Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS. | journal=Clin Genet | year=2004 | pages=101-12 | volume=65 | issue=2 | id=PMID 14984468}}
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| * {{cite journal | author=Boocock GRB, Morrison JA, Popovic M, Richards N, Ellis L, Durie PR, Rommens JM | title=Mutations in SBDS are associated with Shwachman-Diamond syndrome | journal=Nat Genet | year=2003 | pages=97-101 | volume=33 | issue=1 | id=PMID 12496757}}
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| * {{cite journal | author=Popovic M, Goobie S, Morrison J, Ellis L, Ehtesham N, Richards N, Boocock G, Durie PR, Rommens JM | title=Fine mapping of the locus for Shwachman-Diamond syndrome at 7q11, identification of shared disease haplotypes, and exclusion of TPST1 as a candidate gene. | journal=Eur J Hum Genet | year=2002 | pages=250-8 | volume=10 | issue=4 | id=PMID 12032733}}
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| * {{cite journal | author=Smith OP | title=Shwachman-Diamond syndrome. | journal=Semin Hematol | year=2002 | pages=95-102 | volume=39 | issue=2 | id=PMID 11957191}}
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| * {{cite journal | author=Goobie S, Popovic M, Morrison J, Ellis L, Ginzberg H, Boocock GR, Ehtesham N, Betard C, Brewer CG, Roslin NM, Hudson TJ, Morgon K, Fujiwara TM, Durie PR, Rommens JM | title=Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7. | journal=Am J Hum Genet | year=2001 | pages=1048-54 | volume=68 | issue=4 | id=PMID 11254457}}
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| * {{cite journal | author=Cipolli M | title=Shwachman-Diamond syndrome: clinical phenotypes. | journal=Pancreatology | year=2001 | pages=543-8 | volume=1 | issue=5 | id=PMID 12120235}}
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| * {{cite journal | author=Cipolli M, D'Orazio C, Delmarco A, Marchesini C, Miano A, Mastella G | title=Shwachman's syndrome: pathomorphosis and long-term outcome. | journal=J Pediatr Gastroenterol Nutr | year=1999 | pages=265-72 | volume=29 | issue=3 | id=PMID 10467990}}
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| * {{cite journal | author=Ginzberg H, Shin J, Ellis L, Morrison J, Ip W, Dror Y, Freedman M, Heitlinger LA, Belt MA, Corey M, Rommens JM, Durie PR | title=Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar. | journal=J Pediatr | year=1999 | pages=81-8 | volume=135 | issue=1 | id=PMID 10393609}}
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| * {{cite journal | author=Michels VV, Donovan GK | title=Shwachman syndrome: unusual presentation as asphyxiating thoracic dystrophy. | journal=Birth Defects Orig Artic Ser | year=1982 | pages=129-34 | volume=18 | issue=3B | id=PMID 7139093}}
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| * {{cite journal | author=Shwachman H, Diamond LK, Oski FA, Khaw KT | title=The syndrome of pancreatic insufficiency and bone marrow dysfunction. | journal=J Pediatr | year=1964 | pages=645-63 | volume=65 | id=PMID 14221166}}
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| * {{cite journal | author=Bodian M, Sheldon W, Lightwood R | title=Congenital hypoplasia of the exocrine pancreas. | journal=Acta Paediatr | year=1964 | pages=282-93 | volume=53 | id=PMID 14158482}}
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| ==External links==
| | [[Shwachman-Diamond syndrome medical therapy|Medical Therapy]] | [[Shwachman-Diamond syndrome surgery|Surgery]] | [[Shwachman-Diamond syndrome cost-effectiveness of therapy | Cost Effectiveness of Therapy]] | [[Shwachman-Diamond syndrome future or investigational therapies|Future or Investigational Therapies]] |
| * [http://www.shwachmandiamondamerica.org/ Shwachman-Diamond America]
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| * [http://health.groups.yahoo.com/group/shwachmansyndrome/ Shwachman Diamond Syndrome friends/family email list]
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| * [http://www.shwachman.50megs.com/ Shwachman-Diamond Family Website]
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| * [http://www.shwachman-diamond.org/ Shwachman-Diamond Syndrome Foundation]
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| * [http://www.shwachman.org/ Shwachman-Diamond Syndrome Canada]
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| * [http://www.shwachman-diamondsupport.org/ Shwachman-Diamond Support UK]
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| * [http://www.shwachman.de/ Shwachman-Diamond Syndrome Germany]
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| * [http://members.home.nl/christel23/ Shwachman-Diamond Syndrome Netherlands]
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| * [http://www.sickkids.ca/molecular/section.asp?s=Molecular+Genetics+Laboratory&sID=7322&ss=What%27s+New&ssID=7323&sss=Shwachman%2DDiamond+Syndrome+Testing&sssID=8212 SDS Genetic Testing at The Hospital for Sick Children, Toronto]
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| * [http://www.genedx.com/services/dis_shw.php Genetic Testing at GeneDx]
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| * [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=260400 Shwachman-Diamond syndrome (OMIM)]
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| * [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=250250 Cartilage-hair hypoplasia (OMIM)]
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| * [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105650 Diamond-Blackfan anemia (OMIM)]
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| * [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305000 X-linked dyskeratosis congenita (OMIM)]
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| * [http://www.ambrygen.com/ts/ts_sd.aspx/ SDS Gentic testing at Ambry Genetics]
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| | ==Case Studies== |
| | [[Shwachman-Diamond syndrome case study one|Case #1]] |
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| | ==Related Chapters== |
| | * [[Cystic fibrosis]] |
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| [[Category:Hematology]] | | [[Category:Hematology]] |
| [[Category:Autosomal recessive disorders]] | | [[Category:Autosomal recessive disorders]] |
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| [[it:Sindrome di Shwachman-Diamond]]
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| [[fi:Shwachman-Diamondin oireyhtymä]]
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| {{WikiDoc Help Menu}} | | {{WikiDoc Help Menu}} |
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