SDS
MCID: SHW002
MIFTS: 58

Shwachman-Diamond Syndrome (SDS) malady

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

Summaries for Shwachman-Diamond Syndrome

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:43 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 acute leukemia and n syndrome, and has symptoms including autosomal recessive inheritance, scoliosis and intellectual deficit/mental/psychomotor retardation/learning disability. 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 liver, brain and bone marrow, 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:64 Shwachman–Diamond syndrome (SDS) or Shwachman–Bodian–Diamond syndrome is a rare congenital... more...

Description from OMIM:47 260400

GeneReviews summary for sds

Aliases & Classifications for Shwachman-Diamond Syndrome

Sources:
19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 31LifeMap Discovery™, 61UMLS, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal, Cancer
Anatomical: Gastrointestinal, Bone, Blood, Immune, Endocrine


Characteristics (Orphanet epidemiological data):

49
shwachman-diamond syndrome:
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: Any age


Aliases & Descriptions:

shwachman-diamond syndrome 19 43 20 21 45 49 31
shwachman syndrome 19 22 21 61
congenital lipomatosis of pancreas 43 21 49
shwachman-bodian-diamond syndrome 19 21 47
shwachman-bodian syndrome 43 21
sds 43 21
pancreatic insufficiency and bone marrow dysfunction 43
pancreatic insufficiencybone marrow dysfunction 19
metaphyseal chondrodysplasia, shwachman type 21
lipomatosis of pancreas, congenital 43
shwachman-diamond-oski syndrome 21


External Ids:

ICD10 via Orphanet26 D61.0
OMIM47 260400

Related Diseases for Shwachman-Diamond Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Shwachman-Diamond Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 107)
idRelated DiseaseScoreTop Affiliating Genes
1acute leukemia30.3KMT2A, NPM1
2n syndrome10.9
3char syndrome10.5
4adult syndrome10.5
5arc syndrome10.4
6diamond-blackfan anemia10.4
7cystic fibrosis10.4
8asphyxiating thoracic dystrophy10.4
9pancytopenia10.4
10exocrine pancreatic insufficiency10.4
11osteoporosis10.4
12bod syndrome10.4
13bacteremia10.4
14hematopoietic stem cell transplantation10.4
15hemoglobin d disease10.3
16hemoglobin c disease10.3
17diabetic ketoacidosis10.2
18anhidrosis10.2
19dermatofibrosarcoma10.2
20common variable immunodeficiency10.2
21central pontine myelinolysis10.2
22hypoglycemia10.2
23atrioventricular septal defect10.2
24adenocarcinoma10.2
25aplastic anemia10.2
26micro syndrome10.2
27short syndrome10.2
28young syndrome10.2
29inherited bone marrow failure syndromes10.2
30dermatofibrosarcoma protuberans10.2
31growth hormone deficiency10.2
32image syndrome10.2
33sinusitis10.2
34refractory anemia10.2
35sialuria10.2
36sickle cell disease10.2
37diabetic macular edema10.1
38ocular hypertension10.1
39hydronephrosis10.0
40retinitis pigmentosa10.0
41hereditary spherocytosis10.0
42central serous chorioretinopathy10.0
43salla disease10.0
44semantic dementia10.0
45hemoglobin sd10.0
46primary autosomal recessive microcephaly type 110.0
47microcephaly 2, primary, autosomal recessive, with or without cortical malformations10.0
48sickle cell - hemoglobin d disease10.0
49sickle cell - hemoglobin c disease10.0
50pancreatic steatorrhea10.0

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



Diseases related to shwachman-diamond syndrome

Clinical Features for Shwachman-Diamond Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

260400

Clinical synopsis from OMIM:

260400

Symptoms:

49 (show all 28)
  • autosomal recessive inheritance
  • 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
  • thrombocytopenia/thrombopenia
  • structural anomalies of the pancreas
  • 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

Drugs & Therapeutics for Shwachman-Diamond Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™, 61UMLS, 41NDF-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

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

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Shwachman-Diamond Syndrome:

33
Liver, Brain, Bone marrow, Heart, Pancreas, Breast, Myeloid, B cells

Animal Models for Shwachman-Diamond Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Shwachman-Diamond Syndrome

Sources:
51PubMed
See all sources

Articles related to Shwachman-Diamond Syndrome:

(show top 50)    (show all 187)
idTitleAuthorsYear
1
Pluripotent stem cell models of Shwachman-Diamond syndrome reveal a common mechanism for pancreatic and hematopoietic dysfunction. (23602541)
2013
2
Atrioventricular septal defect in a case of Shwachman-Diamond syndrome. (23803361)
2013
3
Clinical and molecular pathophysiology of Shwachman-Diamond syndrome: an update. (23351992)
2013
4
Shwachman-Diamond syndrome: first molecular diagnosis in a Brazilian child. (24106450)
2013
5
Mitochondrial function is impaired in yeast and human cellular models of Shwachman Diamond syndrome. (23792098)
2013
6
Guanine nucleotide exchange in the ribosomal GTPase EFL1 is modulated by the protein mutated in the Shwachman-Diamond syndrome. (23831625)
2013
7
Increase in central striatal dopamine transporters in patients with Shwachman-Diamond syndrome: additional evidence of a brain phenotype. (23239620)
2013
8
Breast cancer in a case of Shwachman Diamond syndrome. (22213587)
2012
9
Lymphoma in a case of Shwachman-Diamond syndrome: PET/CT findings. (22157033)
2012
10
Acquired copy number neutral loss of heterozygosity of chromosome 7 associated with clonal haematopoiesis in a patient with Shwachman-Diamond syndrome. (22934832)
2012
11
Mesenchymal stem cells from Shwachman-Diamond syndrome patients display normal functions and do not contribute to hematological defects. (23064742)
2012
12
Pregnancy in Shwachman-Diamond syndrome: a novel genetic mutation with minimal consequence. (23125299)
2012
13
Altered intracellular localization and mobility of SBDS protein upon mutation in Shwachman-Diamond syndrome. (21695142)
2011
14
Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation. (20569259)
2011
15
Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome. (21536732)
2011
16
Mutations of the Shwachman-Bodian-Diamond syndrome gene in patients presenting with refractory cytopenia--do we have to screen? (19951977)
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
Depletion of the Shwachman-Diamond syndrome gene product, SBDS, leads to growth inhibition and increased expression of OPG and VEGF-A. (19014892)
2009
19
Shwachman-Bodian Diamond syndrome is a multi-functional protein implicated in cellular stress responses. (19602484)
2009
20
Shwachman-Diamond syndrome neutrophils have altered chemoattractant-induced F-actin polymerization and polarization characteristics. (19211642)
2009
21
Myocardial function in patients with Shwachman-Diamond syndrome: aspects to consider before stem cell transplantation. (18646182)
2008
22
Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome. (18324336)
2008
23
Reduced-intensity conditioning is effective and safe for transplantation of patients with Shwachman-Diamond syndrome. (18500373)
2008
24
Identification of a novel AluSx-mediated deletion of exon 3 in the SBDS gene in a patient with Shwachman-Diamond syndrome. (17376717)
2007
25
The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA. (17475909)
2007
26
Prevalence of oral diseases in Shwachman-Diamond syndrome. (17539220)
2007
27
Loss of the mouse ortholog of the shwachman-diamond syndrome gene (Sbds) results in early embryonic lethality. (16914746)
2006
28
Discordant endocrinopathy in a sibling with shwachman-diamond syndrome. (17053083)
2006
29
Shwachman-Diamond syndrome. (16822460)
2006
30
Hematopoietic stem cell transplantation for Shwachman-Diamond syndrome: experience of the French neutropenia registry. (16151425)
2005
31
Identification of novel mutations in patients with Shwachman-Diamond syndrome. (15776428)
2005
32
Genetic analysis of Shwachman-Diamond syndrome: phenotypic heterogeneity in patients carrying identical SBDS mutations. (15942154)
2005
33
A case of Shwachman-Diamond syndrome presenting with diabetes from early infancy. (15920082)
2005
34
Shwachman-Diamond syndrome with late-onset neutropenia and fatal acute myeloid leukaemia without maturation: a case report. (14667205)
2003
35
The genetics of Shwachman-Diamond syndrome. (14598273)
2003
36
Allogeneic bone marrow transplantation in Shwachman-Diamond syndrome with malignant myeloid transformation. A case report. (12298432)
2002
37
Serum pancreatic enzymes define the pancreatic phenotype in patients with Shwachman-Diamond syndrome. (12183724)
2002
38
Shwachman-Diamond syndrome marrow cells show abnormally increased apoptosis mediated through the Fas pathway. (11342425)
2001
39
Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7. (11254457)
2001
40
Special feature: pathological case of the month. Shwachman-Diamond syndrome: a syndrome of pancreatic insufficiency and bone marrow dysfunction. (11343509)
2001
41
Immune function in patients with Shwachman-Diamond syndrome. (11553003)
2001
42
Shwachman-Diamond syndrome in a Mexican family. (11440791)
2001
43
Shwachman-Diamond syndrome: clinical, radiological and sonographic aspects. (7567241)
1995
44
Shwachman-Diamond Syndrome (20301722)
1993
45
Successful cyclosporin A treatment of aplastic anaemia in Shwachman-Diamond syndrome. (2346732)
1990
46
In vitro restoration by lithium of defective chemotaxis in Shwachman-Diamond syndrome. (3219301)
1988
47
Pancreatic lipomatosis in the Shwachman-Diamond syndrome. Identification by sonography and CT-scan. (3897999)
1985
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

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Shwachman-Diamond Syndrome:

63
id Symbol AA change Variation 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

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

Sources:
30KEGG
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

Sources:
45Novoseek, 29IUPHAR, 60Tocris Bioscience, 2BitterDB, 11DrugBank, 24HMDB, 50PharmGKB
See all sources

Compounds related to Shwachman-Diamond Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1zoledronic acid459.9VEGFA, TNFRSF11B
2genistein45 29 60 2 11 2414.0KMT2A, FPR1, VEGFA, TNFRSF11B
3doxorubicin45 50 1110.7TNFRSF11B, NPM1, VEGFA, KMT2A
4gtp45 299.5NPM1, ARHGEF12, FPR1, KMT2A
5tyrosine457.4TPST1, TNFRSF11B, NPM1, ARHGEF12, VEGFA, FPR1

GO Terms for genes affiliated with Shwachman-Diamond Syndrome

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Shwachman-Diamond Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet