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

About this section
Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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

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

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

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of the top 20 diseases related to Shwachman-Diamond Syndrome:



Diseases related to shwachman-diamond syndrome

Clinical Features for Shwachman-Diamond Syndrome

About this section
Sources:
46OMIM, 48Orphanet
See all sources

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

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™, 60UMLS, 40NDF-RT
See all sources

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

About this section
Sources:
20GeneTests, 22GTR
See all sources

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

About this section
Sources:
32MalaCards
See all sources

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

About this section
Sources:
36MGI
See all sources

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

About this section
Sources:
50PubMed
See all sources

Articles related to Shwachman-Diamond Syndrome:

(show top 50)    (show all 179)
idTitleAuthorsYear
1
Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome. (23315050)
2013
2
Molecular characteristics of a pancreatic adenocarcinoma associated with Shwachman-Diamond syndrome. (23303473)
2013
3
Further characterization of Shwachman-Diamond syndrome: psychological functioning and quality of life in adult and young patients. (22315206)
2012
4
Deficiency of Sbds in the mouse pancreas leads to features of Shwachman-Diamond syndrome, with loss of zymogen granules. (22510201)
2012
5
Impaired ribosomal subunit association in Shwachman-Diamond syndrome. (23115272)
2012
6
Shwachman-Diamond Syndrome: are we missing many? (23024080)
2012
7
Shwachman-Diamond syndrome: a complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (Jeune syndrome). (22554078)
2012
8
Acquired copy number neutral loss of heterozygosity of chromosome 7 associated with clonal haematopoiesis in a patient with Shwachman-Diamond syndrome. (22934832)
2012
9
Mesenchymal stem cells from Shwachman-Diamond syndrome patients display normal functions and do not contribute to hematological defects. (23064742)
2012
10
Pregnancy in Shwachman-Diamond syndrome: a novel genetic mutation with minimal consequence. (23125299)
2012
11
Subglottic stenosis in Shwachman-Diamond syndrome - is there a link? (22818180)
2012
12
A rare case: Shwachman-Diamond syndrome presenting with diabetic ketoacidosis. (21448781)
2011
13
Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome. (21536732)
2011
14
Clinical spectrum and molecular pathophysiology of Shwachman-Diamond syndrome. (21124213)
2010
15
Enteropathic histopathological features may be associated with Shwachman-Diamond syndrome. (20501449)
2010
16
Distinct ribosome maturation defects in yeast models of Diamond-Blackfan anemia and Shwachman-Diamond syndrome. (19713223)
2010
17
The behavioral phenotype of school-age children with shwachman diamond syndrome indicates neurocognitive dysfunction with loss of Shwachman-Bodian-Diamond syndrome gene function. (19906387)
2010
18
Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment. (19327581)
2009
19
Shwachman-Diamond syndrome presenting as hypoglycemia. (18832544)
2009
20
Totipotent stem cells bearing del(20q) maintain multipotential differentiation in Shwachman Diamond syndrome. (19016724)
2009
21
A case of Shwachman-Diamond syndrome confirmed with genetic analysis in a Korean child. (18303216)
2008
22
Myocardial function in patients with Shwachman-Diamond syndrome: aspects to consider before stem cell transplantation. (18646182)
2008
23
Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome. (18324336)
2008
24
Reduced-intensity conditioning is effective and safe for transplantation of patients with Shwachman-Diamond syndrome. (18500373)
2008
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
Shwachman-Diamond syndrome is associated with low-turnover osteoporosis. (17920346)
2007
27
Prevalence of oral diseases in Shwachman-Diamond syndrome. (17539220)
2007
28
Severe Shwachman-Diamond syndrome phenotype caused by compound heterozygous missense mutations in the SBDS gene. (17046571)
2006
29
A case of Shwachman-Diamond syndrome in a male neonate. (16801198)
2006
30
Loss of the mouse ortholog of the shwachman-diamond syndrome gene (Sbds) results in early embryonic lethality. (16914746)
2006
31
Discordant endocrinopathy in a sibling with shwachman-diamond syndrome. (17053083)
2006
32
Shwachman-Diamond syndrome. (16822460)
2006
33
A case of Shwachman-Diamond syndrome presenting with diabetes from early infancy. (15920082)
2005
34
Successful unrelated donor bone marrow transplantation for Shwachman-Diamond syndrome with leukemia. (15005350)
2004
35
Lithium effects on neutrophil motility in Shwachman-Diamond syndrome: evaluation by computer-assisted image analysis. (14531925)
2003
36
Mutations in SBDS are associated with Shwachman-Diamond syndrome. (12496757)
2003
37
Bone marrow transplantation in Shwachman-Diamond syndrome. (12203143)
2002
38
Bone marrow failure in Shwachman-Diamond syndrome does not select for clonal haematopoiesis of the paroxysmal nocturnal haemoglobinuria phenotype. (12437667)
2002
39
Shwachman-Diamond syndrome in a Mexican family. (11440791)
2001
40
Pregnancy in bone marrow failure syndromes: Diamond-Blackfan anaemia and Shwachman-Diamond syndrome. (10520024)
1999
41
Shwachman-Diamond syndrome: An inherited preleukemic bone marrow failure disorder with aberrant hematopoietic progenitors and faulty marrow microenvironment. (10556188)
1999
42
Shwachman--Diamond syndrome associated with autoimmune phenomena. (17312679)
1999
43
Allogeneic bone marrow transplatation in a patient with Shwachman-Diamond syndrome. (8597612)
1996
44
Shwachman-Diamond syndrome: clinical, radiological and sonographic findings. (7567263)
1995
45
Shwachman-Diamond syndrome: clinical, radiological and sonographic aspects. (7567241)
1995
46
In vivo effectiveness of lithium on impaired neutrophil chemotaxis in Shwachman-Diamond syndrome. (2024551)
1991
47
Successful cyclosporin A treatment of aplastic anaemia in Shwachman-Diamond syndrome. (2346732)
1990
48
Focal pontine leukoencephalopathy in a patient with the Shwachman-Diamond syndrome. (2825956)
1987
49
Central pontine myelinolysis in a child with the Shwachman-Diamond syndrome. (4007852)
1985
50
Correction of defective chemotaxis with thiamine in Shwachman-Diamond syndrome. (6143997)
1984

Genetic Variations for Shwachman-Diamond Syndrome

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

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

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
29KEGG
See all sources

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

About this section
Sources:
44Novoseek, 28IUPHAR, 59Tocris Bioscience, 2BitterDB, 11DrugBank, 24HMDB, 49PharmGKB
See all sources

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

About this section
Sources:
16Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Shwachman-Diamond Syndrome

About this section
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