| H00439 | |
| H number | H00439 |
| Name | Shwachman-Diamond syndrome |
| 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 |
| Network | - |
| Gene | (SDS1) SBDS [HSA:51119] [KO:K14574] (SDS2) EFL1 [HSA:79631] [KO:K14536] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Sulfadiazine [DR:D00587] |
| Comment | - |
| Other DBs | ICD-11: 3A70.0 ICD-10: D61.0 MeSH: C537330 OMIM: 260400 617941 |
| Reference | PMID:19327581 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 PMID:20174677 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 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 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 |