Shwachman-Diamond syndrome
For patient information click here
| Shwachman-Diamond syndrome | |
| OMIM | 260400 |
|---|---|
| DiseasesDB | 11894 |
|
Shwachman-Diamond syndrome Microchapters |
|
Differentiating Shwachman-Diamond Syndrome from other Diseases |
|---|
|
Diagnosis |
|
Treatment |
|
Case Studies |
|
Shwachman-Diamond syndrome On the Web |
|
American Roentgen Ray Society Images of Shwachman-Diamond syndrome |
|
Risk calculators and risk factors for Shwachman-Diamond syndrome |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Synonyms and keywords: Congenital lipomatosis of pancreas;
Diagnosis
History
See also
References
- Shammas C, Menne TF, Hilcenko C, Michell SR, Goyenechea B, Boocock GR, Durie PR, Rommens JM, Warren AJ (2005). "Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond Syndrome". J Biol Chem. 280 (19): 19221–9. PMID 15701631.
- 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 (2005). "Haematopoietic stem cell transplantation for Shwachman-Diamond disease: a study from the European Group for blood and marrow transplantation". Br J Haematol. 31 (2): 231–6. PMID 16197455.
- 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 (2005). "Hematopoietic stem cell transplantation for Shwachman-Diamond syndrome: experience of the French neutropenia registry". Bone Marrow Transplant. 36 (9): 787–92. PMID 16151425.
- Austin KM, Leary RJ, Shimamura A (2005). "The Shwachman-Diamond SBDS protein localizes to the nucleolus". Blood. 106 (4): 1253–8. PMID 15860664.
- Makitie O, Ellis L, Durie PR, Morrison JA, Sochett EB, Rommens JM, Cole WG (2004). "Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS". Clin Genet. 65 (2): 101–12. PMID 14984468.
- Boocock GRB, Morrison JA, Popovic M, Richards N, Ellis L, Durie PR, Rommens JM (2003). "Mutations in SBDS are associated with Shwachman-Diamond syndrome". Nat Genet. 33 (1): 97–101. PMID 12496757.
- Popovic M, Goobie S, Morrison J, Ellis L, Ehtesham N, Richards N, Boocock G, Durie PR, Rommens JM (2002). "Fine mapping of the locus for Shwachman-Diamond syndrome at 7q11, identification of shared disease haplotypes, and exclusion of TPST1 as a candidate gene". Eur J Hum Genet. 10 (4): 250–8. PMID 12032733.
- Smith OP (2002). "Shwachman-Diamond syndrome". Semin Hematol. 39 (2): 95–102. PMID 11957191.
- 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 (2001). "Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7". Am J Hum Genet. 68 (4): 1048–54. PMID 11254457.
- Cipolli M (2001). "Shwachman-Diamond syndrome: clinical phenotypes". Pancreatology. 1 (5): 543–8. PMID 12120235.
- Cipolli M, D'Orazio C, Delmarco A, Marchesini C, Miano A, Mastella G (1999). "Shwachman's syndrome: pathomorphosis and long-term outcome". J Pediatr Gastroenterol Nutr. 29 (3): 265–72. PMID 10467990.
- Ginzberg H, Shin J, Ellis L, Morrison J, Ip W, Dror Y, Freedman M, Heitlinger LA, Belt MA, Corey M, Rommens JM, Durie PR (1999). "Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar". J Pediatr. 135 (1): 81–8. PMID 10393609.
- Michels VV, Donovan GK (1982). "Shwachman syndrome: unusual presentation as asphyxiating thoracic dystrophy". Birth Defects Orig Artic Ser. 18 (3B): 129–34. PMID 7139093.
- Shwachman H, Diamond LK, Oski FA, Khaw KT (1964). "The syndrome of pancreatic insufficiency and bone marrow dysfunction". J Pediatr. 65: 645–63. PMID 14221166.
- Bodian M, Sheldon W, Lightwood R (1964). "Congenital hypoplasia of the exocrine pancreas". Acta Paediatr. 53: 282–93. PMID 14158482.
External links
- Shwachman-Diamond America
- Shwachman Diamond Syndrome friends/family email list
- Shwachman-Diamond Family Website
- Shwachman-Diamond Syndrome Foundation
- Shwachman-Diamond Syndrome Canada
- Shwachman-Diamond Support UK
- Shwachman-Diamond Syndrome Germany
- Shwachman-Diamond Syndrome Netherlands
- SDS Genetic Testing at The Hospital for Sick Children, Toronto
- Genetic Testing at GeneDx
- Shwachman-Diamond syndrome (OMIM)
- Cartilage-hair hypoplasia (OMIM)
- Diamond-Blackfan anemia (OMIM)
- X-linked dyskeratosis congenita (OMIM)
- SDS Gentic testing at Ambry Genetics
it:Sindrome di Shwachman-Diamond
fi:Shwachman-Diamondin oireyhtymä