KEGG   DISEASE: Shwachman-Diamond syndrome
Entry
H00439                      Disease                                
Name
Shwachman-Diamond syndrome
  Supergrp
Other phagocyte defects [DS:H00101]
Disorders of innate immunity [DS:H02525]
Primary immunodeficiency disease [DS:H01725]
Metaphyseal dysplasias [DS:H00479]
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
Ribosomopathy
Brite
Human diseases [BR:br08402]
 Other congenital disorders
  Ribosomopathies
   H00439  Shwachman-Diamond syndrome
Human diseases in ICD-11 classification [BR:br08403]
 03 Diseases of the blood or blood-forming organs
  Anaemias or other erythrocyte disorders
   3A70  Aplastic anaemia
    H00439  Shwachman-Diamond syndrome
Related
pathway
hsa03008  Ribosome biogenesis in eukaryotes
Gene
(SDS1) SBDS [HSA:51119] [KO:K14574]
(SDS2) EFL1 [HSA:79631] [KO:K14536]
Drug
Sulfadiazine [DR:D00587]
Other DBs
ICD-11: 3A70.0
ICD-10: D61.0
MeSH: C537330
OMIM: 260400 617941
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)
DOI:10.1016/j.hoc.2009.01.007
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)
DOI:10.1039/b919670f
Reference
PMID:12496757 (SBDS)
  Authors
Boocock GR, 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 33:97-101 (2003)
DOI:10.1038/ng1062
Reference
PMID:28331068 (EFL1)
  Authors
Stepensky P, Chacon-Flores M, Kim KH, Abuzaitoun O, Bautista-Santos A, Simanovsky N, Siliqi D, Altamura D, Mendez-Godoy A, Gijsbers A, Naser Eddin A, Dor T, Charrow J, Sanchez-Puig N, Elpeleg O
  Title
Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndrome.
  Journal
J Med Genet 54:558-566 (2017)
DOI:10.1136/jmedgenet-2016-104366
LinkDB

» Japanese version

DBGET integrated database retrieval system