MCID: SHW004
MIFTS: 47

Shwachman-Bodian-Diamond Syndrome malady

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

Aliases & Classifications for Shwachman-Bodian-Diamond Syndrome

About this section

Shwachman-Bodian-Diamond Syndrome, Aliases & Descriptions:

Name: Shwachman-Bodian-Diamond Syndrome 45 10 19 41 21 47 30
Shwachman-Diamond Syndrome 45 30 19 41 20 21 43
Shwachman Syndrome 19 41 21 47 22 60
Sds 41 21 47
Pancreatic Insufficiency and Bone Marrow Dysfunction 41 47
Congenital Lipomatosis of Pancreas 41 21
 
Shwachman-Bodian Syndrome 41 21
Pancreatic Insufficiencybone Marrow Dysfunction 19
Metaphyseal Chondrodysplasia, Shwachman Type 21
Lipomatosis of Pancreas, Congenital 41
Shwachman-Diamond-Oski Syndrome 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
shwachman-bodian-diamond syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Italy),1-9/1000000 (United Kingdom),1-9/1000000 (Puerto rico),1-9/100000 (Canada),1-9/1000000 (Europe),1-9/1000000 (Worldwide); Age of onset: Antenatal,Childhood,Infancy,Neonatal; Age of death: adult,any age,early childhood,infantile,young Adult


External Ids:

OMIM45 260400
Orphanet47 811
ICD10 via Orphanet26 D61.0

Summaries for Shwachman-Bodian-Diamond Syndrome

About this section


NIH Rare Diseases:41 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-Bodian-Diamond Syndrome, also known as shwachman-diamond syndrome, is related to leukemia and neutropenia, and has symptoms including exocrine pancreatic insufficiency, abnormality of neutrophils and abnormality of the metaphyses. An important gene associated with Shwachman-Bodian-Diamond Syndrome is SBDS (Shwachman-Bodian-Diamond syndrome). Affiliated tissues include bone, bone marrow and pancreas.

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.

OMIM:45 Shwachman-Diamond syndrome is characterized primarily by exocrine pancreatic insufficiency, hematologic abnormalities,... (260400) more...

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

GeneReviews summary for sds

Related Diseases for Shwachman-Bodian-Diamond Syndrome

About this section

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



Diseases related to shwachman-bodian-diamond syndrome

Symptoms for Shwachman-Bodian-Diamond Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

260400

Clinical features from OMIM:

260400

Symptoms:

 47 (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-Bodian-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-Bodian-Diamond Syndrome

About this section

Drug clinical trials:

Search ClinicalTrials for Shwachman-Bodian-Diamond Syndrome

Search NIH Clinical Center for Shwachman-Bodian-Diamond Syndrome

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Shwachman-Bodian-Diamond Syndrome cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Shwachman-Bodian-Diamond Syndrome:
ALD-151, umbilical cord blood cells for hematologic and immunodefeciency diseases
Embryonic/Adult Cultured Cells Related to Shwachman-Bodian-Diamond Syndrome:
Umbilical cord blood ALDH+ cells (ALD-151), PMID: 10430905

Genetic Tests for Shwachman-Bodian-Diamond Syndrome

About this section

Genetic tests related to Shwachman-Bodian-Diamond Syndrome:

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

Anatomical Context for Shwachman-Bodian-Diamond Syndrome

About this section

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

31
Bone, Bone marrow, Pancreas, Neutrophil, Liver, Myeloid

Animal Models for Shwachman-Bodian-Diamond Syndrome or affiliated genes

About this section

Publications for Shwachman-Bodian-Diamond Syndrome

About this section

Articles related to Shwachman-Bodian-Diamond Syndrome:

(show all 11)
idTitleAuthorsYear
1
Shwachman-Bodian-Diamond syndrome: metaphyseal chondrodysplasia in children with pancreatic insufficiency and neutropenia. (25416932)
2014
2
Endocrine evaluation of children with and without Shwachman-Bodian-Diamond syndrome gene mutations and Shwachman-Diamond syndrome. (23305959)
2013
3
Mislocalization or low expression of mutated Shwachman-Bodian-Diamond syndrome protein. (21660439)
2011
4
Mutations of the Shwachman-Bodian-Diamond syndrome gene in patients presenting with refractory cytopenia--do we have to screen? (19951977)
2010
5
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
6
Shwachman-Bodian Diamond syndrome is a multi-functional protein implicated in cellular stress responses. (19602484)
2009
7
Conformational flexibility and molecular interactions of an archaeal homologue of the Shwachman-Bodian-Diamond syndrome protein. (19454024)
2009
8
The Shwachman-Bodian-Diamond syndrome associated protein interacts with HsNip7 and its down-regulation affects gene expression at the transcriptional and translational levels. (17643419)
2007
9
The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type. (17400792)
2007
10
The Shwachman-Bodian-Diamond syndrome gene encodes an RNA-binding protein that localizes to the pseudopod of Dictyostelium amoebae during chemotaxis. (16410554)
2006
11
The Shwachman-Bodian-Diamond syndrome protein family is involved in RNA metabolism. (15701634)
2005

Variations for Shwachman-Bodian-Diamond Syndrome

About this section

UniProtKB/Swiss-Prot genetic disease variations for Shwachman-Bodian-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
8SBDSp.Lys33ThrVAR_071673

Clinvar genetic disease variations for Shwachman-Bodian-Diamond Syndrome:

6 (show all 11)
id Gene Variation 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 variantPathogenic, risk factorrs113993993GRCh37Chr 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-Bodian-Diamond Syndrome

About this section
Search GEO for disease gene expression data for Shwachman-Bodian-Diamond Syndrome.

Pathways for genes affiliated with Shwachman-Bodian-Diamond Syndrome

About this section

Compounds for genes affiliated with Shwachman-Bodian-Diamond Syndrome

About this section

GO Terms for genes affiliated with Shwachman-Bodian-Diamond Syndrome

About this section

Cellular components related to Shwachman-Bodian-Diamond Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nucleolusGO:00057309.4NIP7, SBDS

Molecular functions related to Shwachman-Bodian-Diamond Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1poly(A) RNA bindingGO:00448229.4NIP7, SBDS

Products for genes affiliated with Shwachman-Bodian-Diamond Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Shwachman-Bodian-Diamond Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet