Details of Disease

General Information of Disease (ID: DISW57NW)

Disease Name Shwachman-Diamond syndrome
Synonyms
congenital lipomatosis of pancreas; lipomatosis of pancreas, congenital; Shwachman-Bodian syndrome; Shwachman-Diamond type metaphyseal dysplasia; pancreatic insufficiency and bone marrow dysfunction; Shwachman-Diamond syndrome; SDS; Shwachman syndrome; Schwachmann-Diamond syndrome; Shwachman-Bodian-Diamond syndrome; Schwachman-Diamond syndrome; Shwachman Diamond Syndrome
Definition
Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.
Disease Hierarchy
DIS6SVEE: Syndromic disease
DISCPWH9: Autosomal recessive disease
DISW57NW: Shwachman-Diamond syndrome
Disease Identifiers
MONDO ID
MONDO_0009833
MESH ID
D000081003
UMLS CUI
C0272170
MedGen ID
124418
Orphanet ID
811
SNOMED CT ID
89454001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
SERPINI2 TTFS1T2 Strong Biomarker [1]
TST TT51OTS Strong Biomarker [2]
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This Disease Is Related to 13 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
EIF6 OTEXMUED Limited Autosomal dominant [3]
RPS19 OTBKGP48 Limited Biomarker [4]
DNAJC21 OT8C14QA Supportive Autosomal recessive [5]
EFL1 OTMEXJZA Supportive Autosomal recessive [6]
SRP54 OT9SGF3X Supportive Autosomal recessive [7]
ARHGEF12 OTM2D3LT Strong Altered Expression [8]
GDF9 OTNTVKVU Strong Biomarker [9]
L3MBTL1 OT8M52QY Strong Biomarker [10]
PRPH2 OTNH2G5H Strong Biomarker [2]
RPA1 OT76POLP Strong Biomarker [11]
RPL4 OTTYJB0X Strong Biomarker [11]
TPST1 OTDPQKEA Strong Biomarker [12]
SBDS OTHDCCIB Definitive Autosomal recessive [13]
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⏷ Show the Full List of 13 DOT(s)

References

1 Acinar cell apoptosis in Serpini2-deficient mice models pancreatic insufficiency.PLoS Genet. 2005 Sep;1(3):e38. doi: 10.1371/journal.pgen.0010038.
2 Pullulanase treatments to increase resistant starch content of black chickpea (Cicer arietinum L.) starch and the effects on starch properties.Int J Biol Macromol. 2018 May;111:505-513. doi: 10.1016/j.ijbiomac.2018.01.026. Epub 2018 Jan 7.
3 Heterozygous missense variant in EIF6 gene: A novel form of Shwachman-Diamond syndrome?. Am J Med Genet A. 2020 Sep;182(9):2010-2020. doi: 10.1002/ajmg.a.61758. Epub 2020 Jul 13.
4 Aplastic Anemia & MDS International Foundation (AA&MDSIF): Bone Marrow Failure Disease Scientific Symposium 2018.Leuk Res. 2019 May;80:19-25. doi: 10.1016/j.leukres.2019.03.003. Epub 2019 Mar 20.
5 Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome. Blood. 2017 Mar 16;129(11):1557-1562. doi: 10.1182/blood-2016-08-735431. Epub 2017 Jan 6.
6 Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndrome. J Med Genet. 2017 Aug;54(8):558-566. doi: 10.1136/jmedgenet-2016-104366. Epub 2017 Mar 22.
7 Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features. J Clin Invest. 2017 Nov 1;127(11):4090-4103. doi: 10.1172/JCI92876. Epub 2017 Oct 3.
8 Leukaemia-related gene expression in bone marrow cells from patients with the preleukaemic disorder Shwachman-Diamond syndrome.Br J Haematol. 2007 Jun;137(6):537-44. doi: 10.1111/j.1365-2141.2007.06608.x.
9 Evaluating two ovarian decellularization methods in three species.Mater Sci Eng C Mater Biol Appl. 2019 Sep;102:670-682. doi: 10.1016/j.msec.2019.04.092. Epub 2019 Apr 30.
10 Atypical erythroblastosis in a patient with Diamond-Blackfan anemia who developed del(20q) myelodysplasia.Int J Hematol. 2018 Aug;108(2):228-231. doi: 10.1007/s12185-018-2424-4. Epub 2018 Feb 23.
11 Shwachman-Bodian Diamond syndrome is a multi-functional protein implicated in cellular stress responses.Hum Mol Genet. 2009 Oct 1;18(19):3684-95. doi: 10.1093/hmg/ddp316. Epub 2009 Jul 14.
12 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. 2002 Apr;10(4):250-8. doi: 10.1038/sj.ejhg.5200798.
13 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.