SDS
MCID: SHW002
MIFTS: 69

Shwachman-Diamond Syndrome (SDS) malady

Genetic diseases, Rare diseases, Gastrointestinal diseases, Bone diseases, Fetal diseases, Blood diseases, Cancer diseases, Immune diseases, Endocrine diseases categories
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Summaries for Shwachman-Diamond Syndrome

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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 based summary: Shwachman-Diamond Syndrome, also known as shwachman-bodian-diamond syndrome, is related to leukemia and breast cancer, and has symptoms including structural anomalies of the pancreas, pancreatic failure/exocrine pancreas disease and polynuclear cells/neutrophils anomalies/neutropenia. An important gene associated with Shwachman-Diamond Syndrome is SBDS (Shwachman-Bodian-Diamond syndrome), and among its related pathways are HIF-1-alpha transcription factor network and Ribosome biogenesis in eukaryotes. The compounds zoledronic acid and ns 398 have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and pancreas, and related mouse phenotypes are embryogenesis and liver/biliary 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:65 Shwachman?Diamond syndrome (SDS) or Shwachman?Bodian?Diamond syndrome is a rare congenital disorder... more...

Description from OMIM:46 260400

GeneReviews summary for sds

Aliases & Classifications for Shwachman-Diamond Syndrome

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Shwachman-Diamond Syndrome, Aliases & Descriptions:

Name: Shwachman-Diamond Syndrome 30 19 42 20 21 44 48 62
Shwachman-Bodian-Diamond Syndrome 19 21 46 48 62
Shwachman Syndrome 19 22 21 48 62
Congenital Lipomatosis of Pancreas 42 21 62
Shwachman-Bodian Syndrome 42 21 62
Sds 42 21 48
 
Pancreatic Insufficiency and Bone Marrow Dysfunction 42 48
Shwachman-Diamond-Oski Syndrome 21 62
Pancreatic Insufficiencybone Marrow Dysfunction 19
Metaphyseal Chondrodysplasia, Shwachman Type 21
Lipomatosis of Pancreas, Congenital 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
shwachman-diamond syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Childhood; Age of death: Any age


External Ids:

OMIM46 260400
ICD10 via Orphanet26 D61.0

Related Diseases for Shwachman-Diamond Syndrome

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

(show top 50)    (show all 143)
idRelated DiseaseScoreTop Affiliating Genes
1leukemia30.5ARHGEF12, KMT2A, FPR1, NPM1
2breast cancer29.4KMT2A, TNFRSF11B, EIF6, NPM1, VEGFA
3pancreatitis10.7
4neutropenia10.5
5cystic fibrosis10.4
6diabetes mellitus10.4
7diamond-blackfan anemia10.4
8exocrine pancreatic insufficiency10.4
9hematopoietic stem cell transplantation10.4
10hepatitis10.4
11liver disease10.4
12myelodysplastic syndromes10.4
13osteoporosis10.4
14type 1 diabetes mellitus10.4
15asphyxiating thoracic dystrophy10.4
16pancytopenia10.4
17bacteremia10.4
18retinitis10.4
19hemoglobin sd10.4
20syndromic diarrhea10.3
21aplastic anemia10.3
22celiac disease10.3
23common variable immunodeficiency10.3
24congestive heart failure10.3
25dilated cardiomyopathy10.3
26sinusitis10.3
27diabetic ketoacidosis10.3
28central pontine myelinolysis10.3
29hypoglycemia10.3
30atrioventricular septal defect10.3
31anhidrosis10.3
32dermatofibrosarcoma protuberans10.3
33adenocarcinoma10.3
34congenital heart disease10.3
35diarrhea10.3
36lipomatosis10.3
37congenital insensitivity to pain with anhidrosis10.3
385q- syndrome10.3
39chromosome 20q deletion10.3
40growth hormone deficiency10.3
41inherited bone marrow failure syndromes10.3
42refractory anemia10.3
43periodontitis10.3TNFRSF11B
44age related macular degeneration10.1
45hypertension10.1
46diabetic macular edema10.1
47ocular hypertension10.1
48acute myeloid leukemia, adult10.1KMT2A, NPM1
49steatorrhea10.0
50metaphyseal dysplasia10.0

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



Diseases related to shwachman-diamond syndrome

Symptoms for Shwachman-Diamond Syndrome

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Symptoms by clinical synopsis from OMIM:

260400

Clinical features from OMIM:

260400

Symptoms:

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

HPO human phenotypes related to Shwachman-Diamond Syndrome:

(show all 54)
id Description Frequency HPO Source Accession
1 exocrine pancreatic insufficiency hallmark (90%) HP:0001738
2 abnormality of neutrophils hallmark (90%) HP:0001874
3 abnormality of the metaphyses typical (50%) HP:0000944
4 eczema typical (50%) HP:0000964
5 thrombocytopenia typical (50%) HP:0001873
6 macrocytic anemia typical (50%) HP:0001972
7 malabsorption typical (50%) HP:0002024
8 delayed skeletal maturation typical (50%) HP:0002750
9 short stature typical (50%) HP:0004322
10 reduced bone mineral density typical (50%) HP:0004349
11 ichthyosis typical (50%) HP:0008064
12 abnormality of immune system physiology typical (50%) HP:0010978
13 cognitive impairment typical (50%) HP:0100543
14 carious teeth occasional (7.5%) HP:0000670
15 microdontia occasional (7.5%) HP:0000691
16 pectus carinatum occasional (7.5%) HP:0000768
17 gait disturbance occasional (7.5%) HP:0001288
18 hepatomegaly occasional (7.5%) HP:0002240
19 acute leukemia occasional (7.5%) HP:0002488
20 scoliosis occasional (7.5%) HP:0002650
21 bone marrow hypocellularity occasional (7.5%) HP:0005528
22 short thorax occasional (7.5%) HP:0010306
23 type i diabetes mellitus occasional (7.5%) HP:0100651
24 autosomal recessive inheritance HP:0000007
25 nephrocalcinosis HP:0000121
26 narrow chest HP:0000774
27 enlargement of the costochondral junction HP:0000920
28 intellectual disability, mild HP:0001256
29 global developmental delay HP:0001263
30 specific learning disability HP:0001328
31 failure to thrive HP:0001508
32 small for gestational age HP:0001518
33 myocardial necrosis HP:0001700
34 exocrine pancreatic insufficiency HP:0001738
35 thrombocytopenia HP:0001873
36 neutropenia HP:0001875
37 pancytopenia HP:0001876
38 anemia HP:0001903
39 hepatomegaly HP:0002240
40 steatorrhea HP:0002570
41 neonatal respiratory distress HP:0002643
42 recurrent infections HP:0002719
43 delayed skeletal maturation HP:0002750
44 coxa vara HP:0002812
45 myelodysplasia HP:0002863
46 elevated hepatic transaminases HP:0002910
47 ovoid vertebral bodies HP:0003300
48 short stature HP:0004322
49 acute myeloid leukemia HP:0004808
50 metaphyseal chondrodysplasia HP:0005871
51 proximal femoral epiphysiolysis HP:0006461
52 irregular ossification at anterior rib ends HP:0006598
53 narrow sacroiliac notch HP:0008803
54 persistence of hemoglobin f HP:0011904

Drugs & Therapeutics for Shwachman-Diamond Syndrome

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Drug clinical trials:

Search ClinicalTrials for Shwachman-Diamond Syndrome

Search NIH Clinical Center 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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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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MalaCards organs/tissues related to Shwachman-Diamond Syndrome:

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

Animal Models for Shwachman-Diamond Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Shwachman-Diamond Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.4VEGFA, SBDS, NPM1, ARHGEF12, KMT2A
2MP:00053708.1NPM1, VEGFA, EIF6, SBDS, KMT2A
3MP:00053977.9NPM1, KMT2A, FPR1, VEGFA, TNFRSF11B, SBDS
4MP:00053877.8SBDS, ARHGEF12, TNFRSF11B, NPM1, VEGFA, KMT2A
5MP:00053857.8TNFRSF11B, KMT2A, VEGFA, SBDS, NPM1, ARHGEF12
6MP:00053847.5SBDS, VEGFA, TNFRSF11B, KMT2A, FPR1, EIF6
7MP:00107687.3TNFRSF11B, NPM1, EIF6, FPR1, SBDS, KMT2A
8MP:00053787.1VEGFA, TNFRSF11B, KMT2A, SBDS, EIF6, NPM1

Publications for Shwachman-Diamond Syndrome

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Articles related to Shwachman-Diamond Syndrome:

(show top 50)    (show all 181)
idTitleAuthorsYear
1
CNS lymphoma in a patient with Shwachman Diamond syndrome. (24307640)
2014
2
Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome. (24898207)
2014
3
Young-age-onset pancreatoduodenal carcinoma in Shwachman-Diamond syndrome. (24629175)
2014
4
Pluripotent stem cell models of Shwachman-Diamond syndrome reveal a common mechanism for pancreatic and hematopoietic dysfunction. (23602541)
2013
5
Atrioventricular septal defect in a case of Shwachman-Diamond syndrome. (23803361)
2013
6
Shwachman-Diamond syndrome: diarrhea, no longer required? (22935661)
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
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
Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome. (22491737)
2012
11
Further characterization of Shwachman-Diamond syndrome: psychological functioning and quality of life in adult and young patients. (22315206)
2012
12
Deficiency of Sbds in the mouse pancreas leads to features of Shwachman-Diamond syndrome, with loss of zymogen granules. (22510201)
2012
13
Impaired ribosomal subunit association in Shwachman-Diamond syndrome. (23115272)
2012
14
Altered intracellular localization and mobility of SBDS protein upon mutation in Shwachman-Diamond syndrome. (21695142)
2011
15
Non-Diamond Blackfan anemia disorders of ribosome function: Shwachman Diamond syndrome and 5q- syndrome. (21435510)
2011
16
Defective ribosome assembly in Shwachman-Diamond syndrome. (21803848)
2011
17
A rare case: Shwachman-Diamond syndrome presenting with diabetic ketoacidosis. (21448781)
2011
18
Clinical spectrum and molecular pathophysiology of Shwachman-Diamond syndrome. (21124213)
2010
19
Enteropathic histopathological features may be associated with Shwachman-Diamond syndrome. (20501449)
2010
20
Improving the definition of the structure of the isochromosome i(7)(q10) in Shwachman-Diamond Syndrome. (20718726)
2010
21
Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment. (19327581)
2009
22
Depletion of the Shwachman-Diamond syndrome gene product, SBDS, leads to growth inhibition and increased expression of OPG and VEGF-A. (19014892)
2009
23
Shwachman-Diamond syndrome presenting as hypoglycemia. (18832544)
2009
24
Totipotent stem cells bearing del(20q) maintain multipotential differentiation in Shwachman Diamond syndrome. (19016724)
2009
25
Shwachman-Diamond syndrome in a child presenting with cystic fibrosis-type symptoms and a false-positive sweat test. (18607018)
2008
26
Shwachman-Diamond syndrome is associated with structural brain alterations on MRI. (18478597)
2008
27
Substitution of cyclophosphamide and busulfan by fludarabine, treosulfan and melphalan in a preparative regimen for children and adolescents with Shwachman-Diamond syndrome. (17211437)
2007
28
Bacteremia caused by Rothia mucilaginosa in a patient with Shwachman-Diamond syndrome. (17565469)
2007
29
Severe Shwachman-Diamond syndrome phenotype caused by compound heterozygous missense mutations in the SBDS gene. (17046571)
2006
30
Shwachman-Diamond syndrome: UK perspective. (16714727)
2006
31
Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond Syndrome. (15701631)
2005
32
Successful unrelated donor bone marrow transplantation for Shwachman-Diamond syndrome with leukemia. (15005350)
2004
33
Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome. (14749921)
2004
34
Lithium effects on neutrophil motility in Shwachman-Diamond syndrome: evaluation by computer-assisted image analysis. (14531925)
2003
35
Shwachman-Diamond syndrome with late-onset neutropenia and fatal acute myeloid leukaemia without maturation: a case report. (14667205)
2003
36
Bone marrow transplantation in Shwachman-Diamond syndrome. (12203143)
2002
37
Allogeneic bone marrow transplantation in Shwachman-Diamond syndrome with malignant myeloid transformation. A case report. (12298432)
2002
38
Abnormal telomere shortening in leucocytes of children with Shwachman-Diamond syndrome. (11918553)
2002
39
Shwachman-Diamond syndrome marrow cells show abnormally increased apoptosis mediated through the Fas pathway. (11342425)
2001
40
Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7. (11254457)
2001
41
Special feature: pathological case of the month. Shwachman-Diamond syndrome: a syndrome of pancreatic insufficiency and bone marrow dysfunction. (11343509)
2001
42
Pregnancy in bone marrow failure syndromes: Diamond-Blackfan anaemia and Shwachman-Diamond syndrome. (10520024)
1999
43
Adult onset of acute myeloid leukaemia (M6) in patients with Shwachman-Diamond syndrome. (9359520)
1997
44
Shwachman-Diamond syndrome and matched unrelated donor BMT. (8547872)
1995
45
Shwachman-Diamond syndrome: clinical, radiological and sonographic findings. (7567263)
1995
46
Shwachman-Diamond Syndrome (20301722)
1993
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

Variations for Shwachman-Diamond Syndrome

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

64
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
8SBDSp.Lys33ThrVAR_071673

Clinvar genetic disease variations for Shwachman-Diamond Syndrome:

6 (show all 11)
id Gene Name Type Significance SNP ID Assembly Location
1SBDSNM_016038.2(SBDS): c.119delG (p.Ser41Alafs)deletionPathogenicrs113993990GRCh37Chr 7, 66460286: 66460286
2SBDSNM_016038.2(SBDS): c.258+1G> Csingle nucleotide variantPathogenicrs113993992GRCh37Chr 7, 66459198: 66459198
3SBDSNM_016038.2(SBDS): c.297_300delAAGA (p.Glu99Aspfs)deletionPathogenicrs113993994GRCh37Chr 7, 66458363: 66458366
4SBDSNM_016038.2(SBDS): c.377G> C (p.Arg126Thr)single nucleotide variantPathogenicrs113993995GRCh37Chr 7, 66458286: 66458286
5SBDSNM_016038.2(SBDS): c.505C> T (p.Arg169Cys)single nucleotide variantPathogenicrs113993996GRCh37Chr 7, 66456243: 66456243
6SBDSNM_016038.2(SBDS): c.624+1G> Csingle nucleotide variantPathogenicrs113993997GRCh37Chr 7, 66456123: 66456123
7SBDSNM_016038.2(SBDS): c.652C> T (p.Arg218Ter)single nucleotide variantPathogenicrs113993998GRCh37Chr 7, 66453459: 66453459
8SBDSNM_016038.2(SBDS): c.183_184delTAinsCT (p.Lys62Ter)indelPathogenicrs113993991GRCh37Chr 7, 66459274: 66459274
9SBDSNM_016038.2(SBDS): c.258+2T> Csingle nucleotide variantPathogenicrs113993993GRCh37Chr 7, 66459197: 66459197
10SBDSNM_016038.2(SBDS): c.24C> A (p.Asn8Lys)single nucleotide variantPathogenicrs28942099GRCh37Chr 7, 66460381: 66460381
11SBDSSBDS, 1-BP INS, 96AinsertionPathogenic

Expression for genes affiliated with Shwachman-Diamond Syndrome

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8NPM1, VEGFA
29.2EIF6, SBDS, EFTUD1

Compounds for genes affiliated with Shwachman-Diamond Syndrome

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

(show all 14)
idCompoundScoreTop Affiliating Genes
1zoledronic acid4410.0TNFRSF11B, VEGFA
2ns 39844 6110.9TNFRSF11B, VEGFA
3infliximab44 50 1111.8VEGFA, TNFRSF11B
4sb 20358044 6110.7VEGFA, TNFRSF11B, FPR1
5vegf449.2EIF6, TNFRSF11B, VEGFA, FPR1
6gtp44 2810.0KMT2A, NPM1, ARHGEF12, FPR1
7actinomycin d448.9VEGFA, KMT2A, NPM1
8genistein44 28 61 2 24 1113.9FPR1, KMT2A, VEGFA, TNFRSF11B
9threonine448.9SDS, FPR1, KMT2A, NPM1
10doxorubicin44 50 1110.9VEGFA, KMT2A, TNFRSF11B, NPM1
11atp44 289.7NPM1, FPR1, KMT2A, TNFRSF11B
12estrogen448.5NPM1, KMT2A, TNFRSF11B, VEGFA
13retinoic acid44 249.4KMT2A, FPR1, NPM1, TNFRSF11B
14tyrosine447.2EIF6, VEGFA, TNFRSF11B, TPST1, KMT2A, FPR1

GO Terms for genes affiliated with Shwachman-Diamond Syndrome

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Cellular components related to Shwachman-Diamond Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmGO:0057377.7ARHGEF12, NPM1, EIF6, SBDS, KMT2A, SDS

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

idNameGO IDScoreTop Affiliating Genes
1mature ribosome assemblyGO:0422569.2EIF6, SBDS, EFTUD1

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

idNameGO IDScoreTop Affiliating Genes
1ribosome bindingGO:0430228.9EIF6, SBDS, EFTUD1
2protein homodimerization activityGO:0428038.7NPM1, KMT2A, SDS, VEGFA

Products for genes affiliated with Shwachman-Diamond Syndrome

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet