MCID: SHW002
MIFTS: 61

Shwachman-Diamond Syndrome

Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases, Bone diseases, Fetal diseases, Blood diseases, Immune diseases, Endocrine diseases

Aliases & Classifications for Shwachman-Diamond Syndrome

MalaCards integrated aliases for Shwachman-Diamond Syndrome:

Name: Shwachman-Diamond Syndrome 54 38 12 23 50 24 25 56 71 52 14
Shwachman Syndrome 12 23 24 25 56 29 42 69
Shwachman-Bodian-Diamond Syndrome 12 23 24 25 56 13
Pancreatic Insufficiency and Bone Marrow Dysfunction 12 50 24 56
Sds 50 25 56 71
Congenital Lipomatosis of Pancreas 50 25
Shwachman-Bodian Syndrome 50 25
Pancreatic Insufficiencybone Marrow Dysfunction 23
Metaphyseal Chondrodysplasia, Shwachman Type 25
Lipomatosis of Pancreas, Congenital 50
Shwachman-Diamond-Oski Syndrome 25

Characteristics:

Orphanet epidemiological data:

56
shwachman-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;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
increased susceptibility to infection
moderate age-related improvement of pancreatic function
broad range in severity of presentation in sibships


HPO:

32
shwachman-diamond syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Shwachman-Diamond Syndrome

NIH Rare Diseases : 50 shwachman-diamond syndrome is an inherited condition that affects many parts of the body, particularly the bone marrow, pancreas, and skeletal system. most cases of shwachman-diamond syndrome are caused by mutations in the sbds gene.8307] 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: 6/23/2015

MalaCards based summary : Shwachman-Diamond Syndrome, also known as shwachman syndrome, is related to hemoglobin sd and exocrine pancreatic insufficiency, and has symptoms including short stature, failure to thrive and scoliosis. An important gene associated with Shwachman-Diamond Syndrome is SBDS (SBDS, Ribosome Maturation Factor), and among its related pathways/superpathways is Ribosome biogenesis in eukaryotes. The drugs Busulfan and Fludarabine have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and pancreas, and related phenotypes are cellular and growth/size/body region

UniProtKB/Swiss-Prot : 71 Shwachman-Diamond syndrome: Autosomal recessive disorder characterized by pancreatic exocrine insufficiency, hematologic dysfunction, and skeletal abnormalities.

Genetics Home Reference : 25 Shwachman-Diamond syndrome is an inherited condition that affects many parts of the body, particularly the bone marrow, pancreas, and skeletal system.

OMIM : 54
Shwachman-Diamond syndrome is a multisystem autosomal recessive disorder characterized by exocrine pancreatic dysfunction, bony metaphyseal dysostosis, and varying degrees of marrow dysfunction with cytopenias. Myelodysplastic syndrome and acute myeloid leukemia occur in up to one third of patients (summary by Dror and Freedman, 1999). For a review of Shwachman-Diamond syndrome, see Dror and Freedman (2002). (260400)

Disease Ontology : 12 A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities.

Wikipedia : 72 Shwachman–Diamond syndrome (SDS) or Shwachman–Bodian–Diamond syndrome is a rare congenital disorder... more...

GeneReviews: NBK1756

Related Diseases for Shwachman-Diamond Syndrome

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

(show top 50) (show all 98)
id Related Disease Score Top Affiliating Genes
1 hemoglobin sd 12.0
2 exocrine pancreatic insufficiency 11.5
3 salla disease 11.4
4 trichohepatoenteric syndrome 1 11.0
5 semantic dementia 11.0
6 sydenham chorea 11.0
7 rheumatic encephalitis 11.0
8 autosomal dominant nonsyndromic deafness 69 10.9
9 desbuquois dysplasia 1 10.8
10 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 10.8
11 microcephaly 1, primary, autosomal recessive 10.8
12 macrocephaly/autism syndrome 10.8
13 multiple system atrophy 10.8
14 sandhoff disease, infantile, juvenile, and adult forms 10.8
15 frontotemporal lobar degeneration with ubiquitin-positive inclusions 10.7
16 microcephaly 10, primary, autosomal recessive 10.7
17 free sialic acid storage disorders 10.7
18 macular dystrophy, vitelliform, 4 10.7
19 short stature, idiopathic familial 10.7
20 mental retardation and microcephaly with pontine and cerebellar hypoplasia 10.7
21 microcephaly 5, primary, autosomal recessive 10.7
22 short stature with nonspecific skeletal abnormalities 10.7
23 microcephaly 17, primary, autosomal recessive 10.7
24 acid-labile subunit, deficiency of 10.7
25 macular dystrophy, vitelliform, 5 10.7
26 lissencephaly 4 10.7
27 desbuquois dysplasia 2 10.7
28 nanophthalmos 4 10.7
29 insulin-resistant acanthosis nigricans, type a 10.5 DNAJC21 SBDS
30 pancreatitis 10.4
31 essential pentosuria 10.4 KMT2A NPM1
32 neutropenia 10.2
33 leukemia 10.2
34 hematopoietic stem cell transplantation 10.2
35 hepatitis 10.1
36 pancytopenia 10.1
37 osteoporosis 10.1
38 liver disease 10.1
39 hypoglycemia 10.1
40 cystic fibrosis 10.1
41 asphyxiating thoracic dystrophy 10.1
42 lymphoma 10.1
43 cardiomyopathy 10.1
44 bacteremia 10.1
45 diamond-blackfan anemia 10.1
46 myelodysplastic syndrome 10.1
47 cholesteatoma 10.1 KMT2A NPM1
48 focal dystonia 10.1 TNFRSF11B VEGFA
49 retinitis 10.1
50 central nervous system mature teratoma 10.0 ELANE NPM1

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



Diseases related to Shwachman-Diamond Syndrome

Symptoms & Phenotypes for Shwachman-Diamond Syndrome

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Genitourinary- Kidneys:
nephrocalcinosis

Abdomen- Liver:
hepatomegaly

Growth- Weight:
low birth weight

Chest- External Features:
narrow thorax

Skeletal:
delayed skeletal maturation

Neoplasia:
myelodysplasia
acute myelogenous leukemia

Cardiovascular- Heart:
myocardial necrosis

Chest- Ribs Sternum Clavicles And Scapulae:
costochondral thickening
irregular ossification at anterior rib ends

Skeletal- Limbs:
slipped capital femoral epiphyses
metaphyseal chondrodysplasia of long bones

Growth- Other:
failure to thrive

Neurologic- Central Nervous System:
developmental delay
learning disabilities
mild mental retardation

Hematology:
thrombocytopenia
anemia
pancytopenia
persistent or intermittent neutropenia
elevated fetal hemoglobin

Skeletal- Pelvis:
coxa vara
narrow sacroiliac notch

Laboratory- Abnormalities:
abnormal liver function tests
abnormal fecal fat
decreased serum trypsinogen

Skeletal- Spine:
ovoid vertebral bodies

Abdomen- Gastroin testinal:
steatorrhea
severe fat maldigestion

Respiratory- Lung:
respiratory distress in neonatal period

Abdomen- Pancreas:
exocrine pancreatic insufficiency
pancreatic lipomatosis


Clinical features from OMIM:

260400

Human phenotypes related to Shwachman-Diamond Syndrome:

56 32 (show top 50) (show all 54)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 frequent (33%) Frequent (79-30%) HP:0004322
2 failure to thrive 56 32 frequent (33%) Frequent (79-30%) HP:0001508
3 scoliosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002650
4 recurrent infections 56 32 frequent (33%) Frequent (79-30%) HP:0002719
5 neutropenia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001875
6 hepatomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0002240
7 thrombocytopenia 56 32 frequent (33%) Frequent (79-30%) HP:0001873
8 anemia 56 32 frequent (33%) Frequent (79-30%) HP:0001903
9 global developmental delay 56 32 frequent (33%) Frequent (79-30%) HP:0001263
10 pectus carinatum 56 32 occasional (7.5%) Occasional (29-5%) HP:0000768
11 intellectual disability 56 32 frequent (33%) Frequent (79-30%) HP:0001249
12 osteopenia 56 32 frequent (33%) Frequent (79-30%) HP:0000938
13 ichthyosis 56 32 frequent (33%) Frequent (79-30%) HP:0008064
14 malabsorption 56 32 frequent (33%) Frequent (79-30%) HP:0002024
15 generalized hypotonia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001290
16 microdontia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000691
17 delayed skeletal maturation 56 32 frequent (33%) Frequent (79-30%) HP:0002750
18 eczema 56 32 frequent (33%) Frequent (79-30%) HP:0000964
19 gait disturbance 56 32 occasional (7.5%) Occasional (29-5%) HP:0001288
20 aplastic anemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001915
21 myelodysplasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002863
22 recurrent aphthous stomatitis 56 32 occasional (7.5%) Occasional (29-5%) HP:0011107
23 exocrine pancreatic insufficiency 56 32 hallmark (90%) Very frequent (99-80%) HP:0001738
24 carious teeth 56 32 occasional (7.5%) Occasional (29-5%) HP:0000670
25 short thorax 56 32 occasional (7.5%) Occasional (29-5%) HP:0010306
26 acute myeloid leukemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0004808
27 type i diabetes mellitus 56 32 occasional (7.5%) Occasional (29-5%) HP:0100651
28 bone marrow hypocellularity 56 32 occasional (7.5%) Occasional (29-5%) HP:0005528
29 nephrocalcinosis 32 HP:0000121
30 narrow chest 32 HP:0000774
31 intellectual disability, mild 32 HP:0001256
32 anterior rib cupping 32 very rare (1%) HP:0000907
33 pancytopenia 32 HP:0001876
34 coxa vara 32 HP:0002812
35 leukemia 56 Occasional (29-5%)
36 small for gestational age 32 HP:0001518
37 metaphyseal widening 32 HP:0003016
38 ovoid vertebral bodies 32 HP:0003300
39 steatorrhea 32 HP:0002570
40 neonatal respiratory distress 32 HP:0002643
41 myocardial necrosis 32 HP:0001700
42 irregular ossification at anterior rib ends 32 HP:0006598
43 narrow sacroiliac notch 32 HP:0008803
44 enlargement of the costochondral junction 32 HP:0000920
45 growth delay 56 Frequent (79-30%)
46 elevated hepatic transaminases 32 HP:0002910
47 metaphyseal sclerosis 32 HP:0004979
48 proximal femoral epiphysiolysis 32 HP:0006461
49 metaphyseal chondrodysplasia 32 HP:0005871
50 abnormality of the metaphyses 56 Frequent (79-30%)

MGI Mouse Phenotypes related to Shwachman-Diamond Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.07 AGO2 ARHGEF12 EIF6 FPR1 KMT2A MPL
2 growth/size/body region MP:0005378 9.96 TPST1 VEGFA AGO2 ARHGEF12 EIF6 KMT2A
3 embryo MP:0005380 9.87 AGO2 ARHGEF12 KMT2A MPL NPM1 SBDS
4 hematopoietic system MP:0005397 9.85 AGO2 ARHGEF12 ELANE FPR1 KMT2A MPL
5 immune system MP:0005387 9.65 AGO2 ARHGEF12 ELANE FPR1 KMT2A MPL
6 mortality/aging MP:0010768 9.4 AGO2 ARHGEF12 DNAJC21 EIF6 ELANE FPR1

Drugs & Therapeutics for Shwachman-Diamond Syndrome

Drugs for Shwachman-Diamond Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 67)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Busulfan Approved, Investigational Phase 2, Phase 3, Phase 1, Early Phase 1 55-98-1 2478
2
Fludarabine Approved Phase 2, Phase 3, Phase 1, Early Phase 1 21679-14-1, 75607-67-9 30751
3
Vidarabine Approved Phase 2, Phase 3 24356-66-9 32326 21704
4
Lenograstim Approved Phase 2, Phase 3 135968-09-1
5
alemtuzumab Approved, Investigational Phase 2, Phase 3,Phase 1,Early Phase 1 216503-57-0
6
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 1 50-18-0, 6055-19-2 2907
7 Alkylating Agents Phase 2, Phase 3, Phase 1
8 Anti-Infective Agents Phase 2, Phase 3
9 Antilymphocyte Serum Phase 2, Phase 3
10 Antimetabolites Phase 2, Phase 3, Phase 1
11 Antimetabolites, Antineoplastic Phase 2, Phase 3, Phase 1
12 Antiviral Agents Phase 2, Phase 3
13 Immunosuppressive Agents Phase 2, Phase 3, Phase 1
14 Adjuvants, Immunologic Phase 2, Phase 3
15 Antirheumatic Agents Phase 2, Phase 3,Phase 1
16
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
17
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
18
Mycophenolate mofetil Approved, Investigational Phase 2,Phase 1 128794-94-5 5281078
19
Mycophenolic acid Approved Phase 2,Phase 1 24280-93-1 446541
20
Tacrolimus Approved, Investigational Phase 2,Phase 1 104987-11-3 445643 439492
21
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177
22
Melphalan Approved Phase 1, Phase 2, Early Phase 1 148-82-3 4053 460612
23
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
24
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
25
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030 46835353
26 Thiotepa Approved Phase 1, Phase 2 52-24-4 5453
27
Mechlorethamine Approved Phase 2 51-75-2 4033
28
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
29
leucovorin Approved, Nutraceutical Phase 2 58-05-9 143 6006
30
Treosulfan Investigational Phase 2 299-75-2 9296
31 Anti-Bacterial Agents Phase 2
32 Antibiotics, Antitubercular Phase 2
33 Antifungal Agents Phase 2
34 Calcineurin Inhibitors Phase 2,Phase 1
35 Cyclosporins Phase 2,Phase 1
36 Dermatologic Agents Phase 2
37 Folic Acid Antagonists Phase 2
38 Nucleic Acid Synthesis Inhibitors Phase 2
39 Vidarabine Phosphate Phase 2
40 Vitamin B Complex Phase 2
41 Antiemetics Phase 1, Phase 2
42 Anti-Inflammatory Agents Phase 1, Phase 2
43 Antineoplastic Agents, Hormonal Phase 1, Phase 2
44 Autonomic Agents Phase 1, Phase 2
45 Gastrointestinal Agents Phase 1, Phase 2
46 glucocorticoids Phase 1, Phase 2
47 Hormone Antagonists Phase 1, Phase 2
48 Hormones Phase 1, Phase 2
49 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
50 Liver Extracts Phase 1, Phase 2

Interventional clinical trials:

(show all 13)

id Name Status NCT ID Phase Drugs
1 Stem Cell Transplant for Bone Marrow Failure Syndromes Completed NCT00176878 Phase 2, Phase 3 Fludarabine monophosphate;Busulfan
2 Stem Cell Transplant for Hemoglobinopathy Active, not recruiting NCT00176852 Phase 2, Phase 3 Busulfan, Fludarabine, ATG, TLI;Busulfan, Cyclophosphamide, ATG, GCSF;Campath, Fludarabine, Cyclophosphamide
3 Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes Completed NCT00004787 Phase 2 filgrastim
4 Treosulfan and Fludarabine Phosphate Before Donor Stem Cell Transplant in Treating Patients With Nonmalignant Inherited Disorders Recruiting NCT00919503 Phase 2 Cyclosporine;Fludarabine Phosphate;Methotrexate;Mycophenolate Mofetil;Tacrolimus;Treosulfan
5 CD34+ (Malignant) Stem Cell Selection for Patients Receiving Allogenic Stem Cell Transplant Recruiting NCT02061800 Phase 1, Phase 2 Thiotepa;Cyclophosphamide;Alemtuzumab;Tacrolimus;Melphalan;Busulfan;Fludarabine;Methylprednisolone
6 Fludarabine Phosphate, Melphalan, and Low-Dose Total-Body Irradiation Followed by Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies Active, not recruiting NCT01529827 Phase 2 fludarabine phosphate;melphalan;tacrolimus;mycophenolate mofetil;methotrexate
7 BMT Abatacept for Non-Malignant Diseases Recruiting NCT01917708 Phase 1 Abatacept
8 Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant Diseases Recruiting NCT02231710 Phase 1
9 Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to Treatment Completed NCT00499070
10 Cancer in Inherited Bone Marrow Failure Syndromes Recruiting NCT00027274
11 CD34+ (Non-Malignant) Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation Recruiting NCT01966367 Early Phase 1
12 Hematopoietic Stem Cell Transplant for High Risk Hemoglobinopathies Recruiting NCT02179359 Reduced Toxicity Ablative Regimen;Reduced Intensity Preparative Regimen;Myeloablative Preparative Regimen
13 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation Terminated NCT01319851 Alefacept

Search NIH Clinical Center for Shwachman-Diamond Syndrome

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
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) PMIDs: 10430905

Cochrane evidence based reviews: shwachman syndrome

Genetic Tests for Shwachman-Diamond Syndrome

Genetic tests related to Shwachman-Diamond Syndrome:

id Genetic test Affiliating Genes
1 Shwachman Syndrome 29
2 Shwachman-Diamond Syndrome 24 SBDS

Anatomical Context for Shwachman-Diamond Syndrome

MalaCards organs/tissues related to Shwachman-Diamond Syndrome:

39
Bone, Bone Marrow, Pancreas, Myeloid, Liver, Testes, Neutrophil

Publications for Shwachman-Diamond Syndrome

Articles related to Shwachman-Diamond Syndrome:

(show top 50) (show all 208)
id Title Authors Year
1
Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome. ( 28942353 )
2017
2
Dysplastic neutrophils in the bone marrow of a Shwachman-Diamond syndrome patient. ( 28684451 )
2017
3
Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome. ( 28062395 )
2017
4
Syndrome of progressive bone marrow failure and pancreatic insufficiency remains cryptic despite whole exome sequencing: variant of Shwachman-Diamond syndrome or new condition? ( 28588803 )
2017
5
Multiple and Bilateral Cilioretinal Arteries with Shwachman-Diamond Syndrome. ( 28823349 )
2017
6
Novel recurrent chromosome anomalies in Shwachman-Diamond syndrome. ( 28130858 )
2017
7
The Greek Registry of Shwachman Diamond-Syndrome: Molecular and clinical data. ( 28509441 )
2017
8
First experience of hematopoietic stem cell transplantation treatment of Shwachman-Diamond syndrome using unaffected HLA-matched sibling donor produced through preimplantation HLA typing. ( 28346418 )
2017
9
Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome. ( 27146429 )
2016
10
Structural dynamics of the yeast Shwachman-Diamond syndrome protein (Sdo1) on the ribosome and its implication in the 60S subunit maturation. ( 26850260 )
2016
11
Novel myopathy in a newborn with Shwachman-Diamond syndrome and review of neonatal presentation. ( 26866830 )
2016
12
Shwachman-Diamond syndrome presenting with early ichthyosis, associated dermal and epidermal intracellular lipid droplets, hypoglycemia, and later distinctive clinical SDS phenotype. ( 27127007 )
2016
13
New insights into the Shwachman-Diamond Syndrome-related haematological disorder: hyper-activation of mTOR and STAT3 in leukocytes. ( 27658964 )
2016
14
Thoracic Hypoplasia at Birth as Presenting Feature of Shwachman-Diamond Syndrome in Twins. ( 27617157 )
2016
15
A unique case of Shwachman-Diamond syndrome presenting with congenital hypopituitarism. ( 27754968 )
2016
16
RADIOSENSITIVITY IN LYMPHOBLASTOID CELL LINES DERIVED FROM SHWACHMAN-DIAMOND SYNDROME PATIENTS. ( 25870433 )
2015
17
Abnormal circumferential strain measured by echocardiography is present in patients with Shwachman-Diamond syndrome despite normal shortening fraction. ( 25732529 )
2015
18
A novel mouse model provides insights into the neutropenia associated with the ribosomopathy Shwachman-Diamond syndrome. ( 26432381 )
2015
19
Diffuse alterations in grey and white matter associated with cognitive impairment in Shwachman-Diamond syndrome: evidence from a multimodal approach. ( 25844324 )
2015
20
Shwachman-Diamond syndrome (SDS) in a preterm neonate. ( 26081292 )
2015
21
Cytogenetic monitoring in shwachman-diamond syndrome: a note on clonal progression and a practical warning. ( 25887640 )
2015
22
Deletion of Mitochondrial Porin Alleviates Stress Sensitivity in the Yeast Model of Shwachman-Diamond Syndrome. ( 26743985 )
2015
23
Two cases of Shwachman-Diamond syndrome in adolescents confirmed by genetic analysis. ( 25729736 )
2015
24
Nutritional status in children with shwachman-diamond syndrome. ( 25742431 )
2015
25
Defective Guanine Nucleotide Exchange in the Elongation Factor-like 1 (EFL1) GTPase by Mutations in the Shwachman-Diamond Syndrome Protein. ( 25991726 )
2015
26
Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome. ( 24898207 )
2014
27
CNS lymphoma in a patient with Shwachman Diamond syndrome. ( 24307640 )
2014
28
Young-age-onset pancreatoduodenal carcinoma in Shwachman-Diamond syndrome. ( 24629175 )
2014
29
Shwachman-Diamond syndrome with autoimmune-like liver disease and enteropathy mimicking celiac disease. ( 25129842 )
2014
30
Absence of acquired copy number neutral loss of heterozygosity (CN-LOH) of chromosome 7 in a series of 10 patients with Shwachman-Diamond syndrome. ( 24484588 )
2014
31
Increase in central striatal dopamine transporters in patients with Shwachman-Diamond syndrome: additional evidence of a brain phenotype. ( 23239620 )
2013
32
Molecular characteristics of a pancreatic adenocarcinoma associated with Shwachman-Diamond syndrome. ( 23303473 )
2013
33
Variable Clinical Presentation of Shwachman-Diamond Syndrome: Update from the North American Shwachman-Diamond Syndrome Registry. ( 24388329 )
2013
34
Impaired growth, hematopoietic colony formation, and ribosome maturation in human cells depleted of Shwachman-Diamond syndrome protein SBDS. ( 22997148 )
2013
35
Pluripotent stem cell models of Shwachman-Diamond syndrome reveal a common mechanism for pancreatic and hematopoietic dysfunction. ( 23602541 )
2013
36
Atrioventricular septal defect in a case of Shwachman-Diamond syndrome. ( 23803361 )
2013
37
Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome. ( 23315050 )
2013
38
Proteolytic autodigestion: common tissue pathology in Shwachman-Diamond syndrome? ( 24107623 )
2013
39
Endocrine evaluation of children with and without Shwachman-Bodian-Diamond syndrome gene mutations and Shwachman-Diamond syndrome. ( 23305959 )
2013
40
Early spontaneous recovery of exocrine pancreatic insufficiency in a 3-year-old child with Shwachman-Diamond syndrome. ( 24052373 )
2013
41
Different loss of material in recurrent chromosome 20 interstitial deletions in Shwachman-Diamond syndrome and in myeloid neoplasms. ( 24330778 )
2013
42
Guanine nucleotide exchange in the ribosomal GTPase EFL1 is modulated by the protein mutated in the Shwachman-Diamond syndrome. ( 23831625 )
2013
43
Mitochondrial function is impaired in yeast and human cellular models of Shwachman Diamond syndrome. ( 23792098 )
2013
44
Bispectral index monitoring in a patient with combination of congenital insensitivity to pain with anhidrosis (CIPA) and Shwachman-Diamond syndrome. ( 23828451 )
2013
45
Shwachman-Diamond syndrome: first molecular diagnosis in a Brazilian child. ( 24106450 )
2013
46
Shwachman-Diamond syndrome: diarrhea, no longer required? ( 22935661 )
2013
47
Molecular diagnosis of shwachman-diamond syndrome presenting with pancytopenia at an early age: the first report from Turkey. ( 24426364 )
2013
48
Cardiomyopathies and congenital heart diseases in Shwachman-Diamond syndrome: a national survey. ( 23164595 )
2013
49
Clinical and molecular pathophysiology of Shwachman-Diamond syndrome: an update. ( 23351992 )
2013
50
Shwachman-Diamond Syndrome: are we missing many? ( 23024080 )
2012

Variations for Shwachman-Diamond Syndrome

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

71
id Symbol AA change Variation ID SNP ID
1 SBDS p.Asn8Lys VAR_015390 rs28942099
2 SBDS p.Glu44Gly VAR_015391
3 SBDS p.Lys67Glu VAR_015392
4 SBDS p.Ile87Ser VAR_015393
5 SBDS p.Arg126Thr VAR_015394 rs113993995
6 SBDS p.Arg169Cys VAR_015395 rs113993996
7 SBDS p.Ile212Thr VAR_015396 rs79344818
8 SBDS p.Lys33Thr VAR_071673

ClinVar genetic disease variations for Shwachman-Diamond Syndrome:

6 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1 SBDS NM_016038.2(SBDS): c.183_184delTAinsCT (p.Lys62Ter) indel Pathogenic rs113993991 GRCh37 Chromosome 7, 66459273: 66459274
2 SBDS NM_016038.3(SBDS): c.258+2T> C single nucleotide variant Pathogenic,risk factor rs113993993 GRCh37 Chromosome 7, 66459197: 66459197
3 SBDS NM_016038.3(SBDS): c.24C> A (p.Asn8Lys) single nucleotide variant Pathogenic rs28942099 GRCh37 Chromosome 7, 66460381: 66460381
4 SBDS SBDS, 1-BP INS, 96A insertion Pathogenic
5 SBDS NM_016038.3(SBDS): c.258+1G> C single nucleotide variant Pathogenic rs113993992 GRCh37 Chromosome 7, 66459198: 66459198
6 SBDS NM_016038.3(SBDS): c.297_300delAAGA (p.Glu99Aspfs) deletion Pathogenic rs113993994 GRCh37 Chromosome 7, 66458363: 66458366
7 SBDS NM_016038.3(SBDS): c.377G> C (p.Arg126Thr) single nucleotide variant Pathogenic rs113993995 GRCh37 Chromosome 7, 66458286: 66458286
8 SBDS NM_016038.3(SBDS): c.505C> T (p.Arg169Cys) single nucleotide variant Pathogenic rs113993996 GRCh37 Chromosome 7, 66456243: 66456243
9 SBDS NM_016038.3(SBDS): c.624+1G> C single nucleotide variant Pathogenic rs113993997 GRCh37 Chromosome 7, 66456123: 66456123
10 SBDS NM_016038.3(SBDS): c.652C> T (p.Arg218Ter) single nucleotide variant Pathogenic rs113993998 GRCh37 Chromosome 7, 66453459: 66453459
11 SBDS NM_016038.3(SBDS): c.98A> C (p.Lys33Thr) single nucleotide variant Pathogenic rs373730800 GRCh37 Chromosome 7, 66460307: 66460307
12 SBDS NM_016038.3(SBDS): c.120delG (p.Ser41Alafs) deletion Pathogenic rs113993990 GRCh37 Chromosome 7, 66460285: 66460285

Copy number variations for Shwachman-Diamond Syndrome from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 226567 7 59100000 158821424 Mutations SBDS Shwachman-Diamond syndrome

Expression for Shwachman-Diamond Syndrome

Search GEO for disease gene expression data for Shwachman-Diamond Syndrome.

Pathways for Shwachman-Diamond Syndrome

Pathways related to Shwachman-Diamond Syndrome according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.82 EFL1 EIF6 SBDS

GO Terms for Shwachman-Diamond Syndrome

Biological processes related to Shwachman-Diamond Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 ribosome biogenesis GO:0042254 9.13 EFL1 EIF6 SBDS
2 mature ribosome assembly GO:0042256 8.8 EFL1 EIF6 SBDS

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

id Name GO ID Score Top Affiliating Genes
1 ribosomal large subunit binding GO:0043023 8.96 EIF6 NPM1
2 ribosome binding GO:0043022 8.8 EFL1 EIF6 SBDS

Sources for Shwachman-Diamond Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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