SDS
MCID: SHW002
MIFTS: 68

Shwachman-Diamond Syndrome (SDS) malady

Gastrointestinal diseases, Bone diseases, Fetal diseases, Blood diseases, Cancer diseases, Immune diseases, Endocrine diseases categories

Summaries for Shwachman-Diamond Syndrome

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42NIH Rare Diseases, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 Shwachman-diamond syndrome is an inherited condition that affects many parts of the body, particularly the bone marrow, pancreas, and skeletal system. about 90% of cases of shwachman-diamond syndrome are caused by mutations in the sbds gene. in cases where no sbds mutation is found, the cause of this disorder is unknown. this condition is inherited in an autosomal recessive manner. treatment may include enzyme and vitamin supplementation, blood and/or platelet transfusion, administration of granulocyte-colony stimulating factor (g-csf), and/or hematopoietic stem cell transplantation. last updated: 8/2/2012

MalaCards: Shwachman-Diamond Syndrome, also known as shwachman syndrome, is related to neutropenia and acute leukemia, and has symptoms including acute leukemia, polynuclear cells/neutrophils anomalies/neutropenia and myeloproliferative syndrome/chronic leukemia. An important gene associated with Shwachman-Diamond Syndrome is SBDS (Shwachman-Bodian-Diamond syndrome), and among its related pathways is Ribosome biogenesis in eukaryotes. The compounds zoledronic acid and genistein have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and pancreas, and related mouse phenotypes are liver/biliary system and immune system.

Genetics Home Reference:21 Shwachman-Diamond syndrome is an inherited condition that affects many parts of the body, particularly the bone marrow, pancreas, and skeletal system.

Wikipedia:63 Shwachman–Diamond syndrome (SDS) or Shwachman–Bodian–Diamond syndrome is a rare congenital... more...

Description from OMIM:46 260400

GeneReviews summary for sds

Aliases & Classifications for Shwachman-Diamond Syndrome

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19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 44Novoseek, 48Orphanet, 30LifeMap Discovery™, 22GTR, 60UMLS, 46OMIM, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
shwachman-diamond syndrome:
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: Any age


Aliases & Descriptions:

shwachman-diamond syndrome 19 42 20 21 44 48 30
shwachman syndrome 19 22 21 60
congenital lipomatosis of pancreas 42 21 48
shwachman-bodian-diamond syndrome 19 21 46
shwachman-bodian syndrome 42 21
sds 42 21
pancreatic insufficiency and bone marrow dysfunction 42
pancreatic insufficiencybone marrow dysfunction 19
metaphyseal chondrodysplasia, shwachman type 21
lipomatosis of pancreas, congenital 42
shwachman-diamond-oski syndrome 21


External Ids:

ICD10 via Orphanet26 D61.0
SNOMED-CT via Orphanet57 89454001
OMIM46 260400

Related Diseases for Shwachman-Diamond Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Shwachman-Diamond Syndrome:



Diseases related to shwachman-diamond syndrome

Clinical Features for Shwachman-Diamond Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

260400

Clinical synopsis from OMIM:

260400

Symptoms:

48 (show all 28)
  • acute leukemia
  • polynuclear cells/neutrophils anomalies/neutropenia
  • myeloproliferative syndrome/chronic leukemia
  • eczema
  • enanthema/aphtosa/aphta/leukoplakia
  • macrocytic anemia
  • bone marrow failure/pancytopenia
  • pancreatic failure/exocrine pancreas disease
  • structural anomalies of the pancreas
  • thrombocytopenia/thrombopenia
  • scoliosis
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • abnormal gait
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • hepatomegaly/liver enlargement (excluding storage disease)
  • delayed bone age
  • multiple caries
  • pectus carinatum
  • malabsorption/chronic diarrhea/steatorrhea
  • ichthyosis/ichthyosiform dermatitis
  • short stature/dwarfism/nanism
  • insulin-dependent/type 1 diabetes
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • metaphyseal anomaly
  • short rib cage/thorax
  • complete/partial microdontia
  • autosomal recessive inheritance

Drugs & Therapeutics for Shwachman-Diamond Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Shwachman-Diamond Syndrome

Drug clinical trials:

Search ClinicalTrials for Shwachman-Diamond Syndrome

Search NIH Clinical Center for Shwachman-Diamond Syndrome

Search CenterWatch for Shwachman-Diamond Syndrome

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Shwachman-Diamond Syndrome cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Shwachman-Diamond Syndrome:
ALD-151, umbilical cord blood cells for hematologic and immunodefeciency diseases
Embryonic/Adult Cultured Cells Related to Shwachman-Diamond Syndrome:
Umbilical cord blood ALDH+ cells (ALD-151), PMID: 10430905

Genetic Tests for Shwachman-Diamond Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Shwachman-Diamond Syndrome:

id Genetic test Affiliating Genes
1 Shwachman-Diamond Syndrome20 SBDS
2 Shwachman Syndrome22

Anatomical Context for Shwachman-Diamond Syndrome

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32MalaCards
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MalaCards organs/tissues related to Shwachman-Diamond Syndrome:

32
Bone, Bone marrow, Pancreas, Liver, Myeloid, Heart, Brain, Testes, Breast, B cells

Animal Models for Shwachman-Diamond Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Shwachman-Diamond Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.3KMT2A, EIF6, SBDS, VEGFA, NPM1
2MP:00053877.6ARHGEF12, NPM1, VEGFA, SBDS, FPR1, KMT2A
3MP:00053847.6FPR1, TNFRSF11B, NPM1, ARHGEF12, VEGFA, SBDS
4MP:00107687.5SBDS, VEGFA, FPR1, ARHGEF12, KMT2A, NPM1
5MP:00053787.4TPST1, EIF6, ARHGEF12, NPM1, TNFRSF11B, SBDS

Publications for Shwachman-Diamond Syndrome

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50PubMed
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Articles related to Shwachman-Diamond Syndrome:

(show top 50)    (show all 179)
idTitleAuthorsYear
1
CNS lymphoma in a patient with Shwachman Diamond syndrome. (24307640)
2014
2
Molecular diagnosis of shwachman-diamond syndrome presenting with pancytopenia at an early age: the first report from Turkey. (24426364)
2013
3
Variable Clinical Presentation of Shwachman-Diamond Syndrome: Update from the North American Shwachman-Diamond Syndrome Registry. (24388329)
2013
4
Early spontaneous recovery of exocrine pancreatic insufficiency in a 3-year-old child with Shwachman-Diamond syndrome. (24052373)
2013
5
Different loss of material in recurrent chromosome 20 interstitial deletions in Shwachman-Diamond syndrome and in myeloid neoplasms. (24330778)
2013
6
Breast cancer in a case of Shwachman Diamond syndrome. (22213587)
2012
7
Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome. (22491737)
2012
8
Ubiquitin-proteasome-rich cytoplasmic structures in neutrophils of patients with Shwachman-Diamond syndrome. (22271888)
2012
9
A clinical algorithm predicts hematological complications in Shwachman-Diamond syndrome? (22992231)
2012
10
Altered intracellular localization and mobility of SBDS protein upon mutation in Shwachman-Diamond syndrome. (21695142)
2011
11
Non-Diamond Blackfan anemia disorders of ribosome function: Shwachman Diamond syndrome and 5q- syndrome. (21435510)
2011
12
Sixth International Congress on Shwachman-Diamond syndrome: from patients to genes and back. (22191554)
2011
13
Dermatofibrosarcoma protuberans arising in the context of Shwachman-Diamond syndrome. (21073512)
2011
14
Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome. (22191555)
2011
15
Improving the definition of the structure of the isochromosome i(7)(q10) in Shwachman-Diamond Syndrome. (20718726)
2010
16
Molecular diagnosis of Shwachman-Diamond syndrome in a child with incomplete clinical disease phenotype. (20486183)
2010
17
MRI findings in Shwachman diamond syndrome. (17183583)
2008
18
Hematologically important mutations: Shwachman-Diamond syndrome. (17916435)
2008
19
Shwachman Diamond syndrome-phenotypes and genotypes: when clinical research informs biology. (18661494)
2008
20
Substitution of cyclophosphamide and busulfan by fludarabine, treosulfan and melphalan in a preparative regimen for children and adolescents with Shwachman-Diamond syndrome. (17211437)
2007
21
Leukaemia-related gene expression in bone marrow cells from patients with the preleukaemic disorder Shwachman-Diamond syndrome. (17539775)
2007
22
Shwachman-Diamond syndrome: UK perspective. (16714727)
2006
23
Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond Syndrome. (15701631)
2005
24
Shwachman-Diamond syndrome. (16047374)
2005
25
Hematologic abnormalities in Shwachman Diamond syndrome: lack of genotype-phenotype relationship. (15769891)
2005
26
Infections in patients with Shwachman-Diamond syndrome. (15702050)
2005
27
Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome. (14749921)
2004
28
Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS. (14984468)
2004
29
SBDS mutations and isochromosome 7q in a patient with Shwachman-Diamond syndrome: no predisposition to malignant transformation? (15474150)
2004
30
Congenital aplastic anemia caused by mutations in the SBDS gene: a rare presentation of Shwachman-Diamond syndrome. (15342903)
2004
31
Anaesthetic management of quinsy in a patient with Shwachman-Diamond syndrome. (12859504)
2003
32
Chromosome 20q deletion and progression to monosomy 7 in a patient with Shwachman-Diamond syndrome without MDS/AML. (12794535)
2003
33
Does isochromosome 7q mandate bone marrow transplant in children with Shwachman-Diamond syndrome? (12472589)
2002
34
Intermittent 20q- and consistent i(7q) in a patient with Shwachman-Diamond syndrome. (12217199)
2002
35
Shwachman-diamond syndrome. (12181037)
2002
36
Successful allogeneic hematopoietic stem cell transplantation (HSCT) for Shwachman-Diamond syndrome. (11840149)
2002
37
Fine mapping of the locus for Shwachman-Diamond syndrome at 7q11, identification of shared disease haplotypes, and exclusion of TPST1 as a candidate gene. (12032733)
2002
38
Liver failure complicating non-alcoholic steatohepatitis following allogeneic bone marrow transplantation for Shwachman-Diamond syndrome. (12080360)
2002
39
Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7. (11254457)
2001
40
Expression of CD5 on hematogones in a 7-year-old girl with Shwachman-Diamond syndrome. (11779055)
2001
41
Segregation analysis in Shwachman-Diamond syndrome: evidence for recessive inheritance. (10739765)
2000
42
Shwachman-Diamond syndrome: early bone marrow transplantation in a high risk patient and new clues to pathogenesis. (10592077)
1999
43
Discordant detection of monosomy 7 by GTG-banding and FISH in a patient with Shwachman-Diamond syndrome without evidence of myelodysplastic syndrome or acute myelogenous leukemia. (10598142)
1999
44
Exclusion of linkage of Shwachman-Diamond syndrome to chromosome regions 6q and 12q implicated by a de novo translocation. (10406671)
1999
45
Malignant myeloid transformation with isochromosome 7q in Shwachman-Diamond syndrome. (9766504)
1998
46
Shwachman-Diamond syndrome associated with hypogammaglobulinemia and growth hormone deficiency. (7636061)
1995
47
Sinusitis and bacteremia caused by Flavobacterium meningosepticum in a sixteen-year-old with Shwachman Diamond syndrome. (1630865)
1992
48
Fatal cyclophosphamide-induced congestive heart failure in a 10-year-old boy with Shwachman-Diamond syndrome and severe bone marrow failure treated with allogeneic bone marrow transplantation. (2285129)
1990
49
Pancreatic lipomatosis in the Shwachman-Diamond syndrome. Identification by sonography and CT-scan. (3897999)
1985
50
Impaired neutrophil kinesis in a patient with the Shwachman-Diamond syndrome. (687246)
1978

Genetic Variations for Shwachman-Diamond Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Shwachman-Diamond Syndrome:

62
id Symbol AA change Variation ID SNP ID
1SBDSp.Asn8LysVAR_015390rs28942099
2SBDSp.Glu44GlyVAR_015391
3SBDSp.Lys67GluVAR_015392
4SBDSp.Ile87SerVAR_015393
5SBDSp.Arg126ThrVAR_015394
6SBDSp.Arg169CysVAR_015395
7SBDSp.Ile212ThrVAR_015396rs79344818

Expression for genes affiliated with Shwachman-Diamond Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Shwachman-Diamond Syndrome

Search GEO for disease gene expression data for Shwachman-Diamond Syndrome.

Pathways for genes affiliated with Shwachman-Diamond Syndrome

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29KEGG
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Pathways related to Shwachman-Diamond Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3EIF6, SBDS, EFTUD1

Compounds for genes affiliated with Shwachman-Diamond Syndrome

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44Novoseek, 28IUPHAR, 59Tocris Bioscience, 2BitterDB, 11DrugBank, 24HMDB, 49PharmGKB
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Compounds related to Shwachman-Diamond Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1zoledronic acid449.9VEGFA, TNFRSF11B
2genistein44 28 59 2 11 2414.0KMT2A, FPR1, VEGFA, TNFRSF11B
3doxorubicin44 49 1110.7TNFRSF11B, NPM1, VEGFA, KMT2A
4gtp44 289.5NPM1, ARHGEF12, FPR1, KMT2A
5tyrosine447.4TPST1, TNFRSF11B, NPM1, ARHGEF12, VEGFA, FPR1

GO Terms for genes affiliated with Shwachman-Diamond Syndrome

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16Gene Ontology
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Biological processes related to Shwachman-Diamond Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mature ribosome assemblyGO:0422569.3EIF6, SBDS, EFTUD1

Molecular functions related to Shwachman-Diamond Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ribosome bindingGO:0430229.0EIF6, SBDS, EFTUD1
2protein homodimerization activityGO:0428038.8SDS, KMT2A, VEGFA, NPM1

Products for genes affiliated with Shwachman-Diamond Syndrome

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  • Antibodies
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Sources for Shwachman-Diamond Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet