KEGG   DISEASE: Shwachman-Diamond syndrome (SDS)Help
Entry
H00439                      Disease                                

Name
Shwachman-Diamond syndrome (SDS)
Description
Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disease, mainly characterized by exocrine pancreatic insufficiency, hematological dysfunction and skeletal abnormalities. In most cases, SDS is associated with mutations in SBDS,a protein involved in maturation and export of the ribosomal 60S subunit.
Category
Congenital disorder of development; Ribosomopathy
Brite
Human diseases [BR:br08402]
 Other congenital disorders
  Ribosomopathies
   H00439  Shwachman-Diamond syndrome (SDS)
Human diseases in ICD-10 classification [BR:br08403]
 3. Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism (D50-D89)
  D60-D64  Aplastic and other anaemias
   D61  Other aplastic anaemias
    H00439  Shwachman-Diamond syndrome (SDS)
BRITE hierarchy
Pathway
hsa03008 Ribosome biogenesis in Eukaryotes  
 
Gene
SBDS [HSA:51119] [KO:K14574]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  Authors
Burroughs L, Woolfrey A, Shimamura A
  Title
Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment.
  Journal
Hematol Oncol Clin North Am 23:233-48 (2009)
Reference
  Authors
Freed EF, Bleichert F, Dutca LM, Baserga SJ
  Title
When ribosomes go bad: diseases of ribosome biogenesis.
  Journal
Mol Biosyst 6:481-93 (2010)

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