KEGG DISEASE: Shwachman-Diamond syndrome

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 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

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:

ICD-10:

MeSH:

OMIM:

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

Reference

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

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

» Japanese version

All links

Disease (2)   
   OMIM (2)   
Drug (1)   
   KEGG DRUG (1)   
Gene (4)   
   KEGG ORTHOLOGY (2)   
   KEGG GENES (2)   
Literature (4)   
   PubMed (4)   
All databases (11)   

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