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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21Genetics Home Reference, 42NIH Rare Diseases, 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:00053708.3NPM1, VEGFA, SBDS, EIF6, KMT2A
2MP:00053877.6TNFRSF11B, NPM1, ARHGEF12, VEGFA, SBDS, FPR1
3MP:00053847.6KMT2A, TNFRSF11B, NPM1, ARHGEF12, VEGFA, SBDS
4MP:00107687.5NPM1, ARHGEF12, VEGFA, SBDS, FPR1, EIF6
5MP:00053787.4TNFRSF11B, NPM1, ARHGEF12, VEGFA, SBDS, EIF6

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
Clinical and molecular pathophysiology of Shwachman-Diamond syndrome: an update. (23351992)
2013
2
Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome. (23315050)
2013
3
Mitochondrial function is impaired in yeast and human cellular models of Shwachman Diamond syndrome. (23792098)
2013
4
Guanine nucleotide exchange in the ribosomal GTPase EFL1 is modulated by the protein mutated in the Shwachman-Diamond syndrome. (23831625)
2013
5
Increase in central striatal dopamine transporters in patients with Shwachman-Diamond syndrome: additional evidence of a brain phenotype. (23239620)
2013
6
Impaired growth, hematopoietic colony formation, and ribosome maturation in human cells depleted of Shwachman-Diamond syndrome protein SBDS. (22997148)
2013
7
Deletion of chromosome 20 in bone marrow of patients with Shwachman-Diamond syndrome, loss of the EIF6 gene and benign prognosis. (22295858)
2012
8
Lymphoma in a case of Shwachman-Diamond syndrome: PET/CT findings. (22157033)
2012
9
Further characterization of Shwachman-Diamond syndrome: psychological functioning and quality of life in adult and young patients. (22315206)
2012
10
Impaired ribosomal subunit association in Shwachman-Diamond syndrome. (23115272)
2012
11
Shwachman-Diamond syndrome. (22201042)
2012
12
Shwachman-Diamond syndrome in India. (21990229)
2012
13
Shwachman-Diamond syndrome and type 1 diabetes mellitus: more than a chance association? (21553366)
2011
14
Dilated cardiomyopathy in a case of Shwachman-Diamond syndrome. (21486516)
2011
15
Depletion of the Shwachman-Diamond syndrome gene product, SBDS, leads to growth inhibition and increased expression of OPG and VEGF-A. (19014892)
2009
16
Shwachman-Diamond syndrome neutrophils have altered chemoattractant-induced F-actin polymerization and polarization characteristics. (19211642)
2009
17
A novel mutation in a Fijian boy with Shwachman-Diamond syndrome. (19816210)
2009
18
The natural history of Shwachman-Diamond syndrome-associated liver disease from childhood to adulthood. (19683257)
2009
19
The route to development of myelodysplastic syndrome/acute myeloid leukaemia in Shwachman-Diamond syndrome: the role of ageing, karyotype instability, and acquired chromosome anomalies. (19222471)
2009
20
Shwachman-Diamond syndrome in a child presenting with cystic fibrosis-type symptoms and a false-positive sweat test. (18607018)
2008
21
Shwachman-Diamond syndrome is associated with structural brain alterations on MRI. (18478597)
2008
22
Shwachman-Diamond syndrome presenting in a premature infant as pancytopenia. (18322927)
2008
23
Magnetic resonance imaging findings of the pancreas in patients with Shwachman-Diamond syndrome and mutations in the SBDS gene. (18280855)
2008
24
Bacteremia caused by Rothia mucilaginosa in a patient with Shwachman-Diamond syndrome. (17565469)
2007
25
Identification of a novel AluSx-mediated deletion of exon 3 in the SBDS gene in a patient with Shwachman-Diamond syndrome. (17376717)
2007
26
The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA. (17475909)
2007
27
Identification of novel mutations in patients with Shwachman-Diamond syndrome. (15776428)
2005
28
Genetic analysis of Shwachman-Diamond syndrome: phenotypic heterogeneity in patients carrying identical SBDS mutations. (15942154)
2005
29
Successful unrelated umbilical cord blood transplantation in children with Shwachman-Diamond syndrome. (16113664)
2005
30
Successful unrelated donor bone marrow transplantation for Shwachman-Diamond syndrome with leukemia. (15005350)
2004
31
The chemotaxis defect of Shwachman-Diamond Syndrome leukocytes. (14743349)
2004
32
Shwachman-Diamond syndrome with late-onset neutropenia and fatal acute myeloid leukaemia without maturation: a case report. (14667205)
2003
33
Abnormal telomere shortening in leucocytes of children with Shwachman-Diamond syndrome. (11918553)
2002
34
Serum pancreatic enzymes define the pancreatic phenotype in patients with Shwachman-Diamond syndrome. (12183724)
2002
35
P53 protein overexpression in Shwachman-Diamond syndrome. (12385329)
2002
36
Shwachman-Diamond syndrome. (12183708)
2002
37
Clonal evolution in marrows of patients with Shwachman-Diamond syndrome: a prospective 5-year follow-up study. (12135662)
2002
38
Shwachman-Diamond syndrome marrow cells show abnormally increased apoptosis mediated through the Fas pathway. (11342425)
2001
39
Special feature: pathological case of the month. Shwachman-Diamond syndrome: a syndrome of pancreatic insufficiency and bone marrow dysfunction. (11343509)
2001
40
Immune function in patients with Shwachman-Diamond syndrome. (11553003)
2001
41
Successful unrelated bone marrow transplantation for Shwachman-Diamond syndrome. (11244445)
2001
42
Emergence of an unusual bone marrow precursor B-cell population in fatal Shwachman-Diamond syndrome. (10975944)
2000
43
Duplication of distal thumb phalanx in Shwachman-Diamond syndrome. (9637427)
1998
44
Shwachman-Diamond syndrome and matched unrelated donor BMT. (8547872)
1995
45
Shwachman-Diamond syndrome: the clinical imitator of cystic fibrosis. (8637967)
1995
46
Shwachman-Diamond Syndrome (20301722)
1993
47
In vitro restoration by lithium of defective chemotaxis in Shwachman-Diamond syndrome. (3219301)
1988
48
Central pontine myelinolysis in a child with the Shwachman-Diamond syndrome. (4007852)
1985
49
Hepatic dysfunction and dysgammaglobulinaemia in Shwachman-Diamond syndrome. (708113)
1978
50
Hepatic dysfunction in association with pancreatic insufficiency and cyclical neutropenia. Shwachman-Diamond syndrome. (836058)
1977

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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  • Antibodies

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