MCID: SHW002
MIFTS: 63

Shwachman-Diamond Syndrome

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

Aliases & Classifications for Shwachman-Diamond Syndrome

MalaCards integrated aliases for Shwachman-Diamond Syndrome:

Name: Shwachman-Diamond Syndrome 53 37 12 23 49 24 55 71 36 51 14
Shwachman Syndrome 12 72 23 24 55 28 41 69
Shwachman-Bodian-Diamond Syndrome 12 23 24 55 13
Sds 53 49 24 55 71
Pancreatic Insufficiency and Bone Marrow Dysfunction 53 12 49 55
Shwachman-Bodian Syndrome 53 49 24
Lipomatosis of Pancreas, Congenital 53 49
Congenital Lipomatosis of Pancreas 49 24
Pancreatic Insufficiencybone Marrow Dysfunction 23
Metaphyseal Chondrodysplasia, Shwachman Type 24
Shwachman-Diamond-Oski Syndrome 24

Characteristics:

Orphanet epidemiological data:

55
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:

53
Inheritance:
autosomal recessive

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


HPO:

31
shwachman-diamond syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Shwachman-Diamond Syndrome

NIH Rare Diseases : 49 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 inherited bone marrow failure syndromes and exocrine pancreatic insufficiency, and has symptoms including osteopenia, intellectual disability and gait disturbance. 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

OMIM : 53 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)

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

Genetics Home Reference : 24 Shwachman-Diamond syndrome is an inherited condition that affects many parts of the body, particularly the bone marrow, pancreas, and skeletal system.

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 90)
# Related Disease Score Top Affiliating Genes
1 inherited bone marrow failure syndromes 30.5 DNAJC21 SBDS
2 exocrine pancreatic insufficiency 11.6
3 salla disease 11.6
4 trichohepatoenteric syndrome 1 11.2
5 short stature, idiopathic, x-linked 11.1
6 sydenham chorea 11.1
7 rheumatic encephalitis 11.1
8 deafness, autosomal dominant 69 11.0
9 microcephaly 1, primary, autosomal recessive 10.9
10 desbuquois dysplasia 1 10.9
11 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 10.9
12 macrocephaly/autism syndrome 10.9
13 multiple system atrophy 1 10.9
14 sandhoff disease 10.9
15 sickle cell - hemoglobin d disease 10.9
16 microcephaly, autosomal dominant 10.8
17 mental retardation and microcephaly with pontine and cerebellar hypoplasia 10.8
18 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 10.8
19 microcephaly 5, primary, autosomal recessive 10.8
20 lissencephaly 4 10.8
21 microcephaly 10, primary, autosomal recessive 10.8
22 desbuquois dysplasia 2 10.8
23 acid-labile subunit deficiency 10.8
24 nanophthalmos 4 10.8
25 macular dystrophy, vitelliform, 4 10.8
26 macular dystrophy, vitelliform, 5 10.8
27 short stature with nonspecific skeletal abnormalities 10.8
28 microcephaly 17, primary, autosomal recessive 10.8
29 free sialic acid storage disorders 10.8
30 pancreatitis 10.5
31 aging 10.3
32 neutropenia 10.3
33 hematopoietic stem cell transplantation 10.3
34 leukemia 10.3
35 fibrosis of extraocular muscles, congenital, 1 10.2
36 osteoporosis 10.2
37 cystic fibrosis 10.2
38 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.2
39 bone mineral density quantitative trait locus 8 10.2
40 bone mineral density quantitative trait locus 15 10.2
41 myelodysplastic syndrome 10.2
42 bacteremia 2 10.2
43 diabetes mellitus 10.2
44 diamond-blackfan anemia 10.2
45 hepatitis 10.2
46 liver disease 10.2
47 asphyxiating thoracic dystrophy 10.2
48 lymphoma 10.2
49 pancytopenia 10.2
50 hypoglycemia 10.2

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:

53
Growth Other:
failure to thrive

Skeletal:
delayed skeletal maturation

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

Skeletal Spine:
ovoid vertebral bodies

Genitourinary Kidneys:
nephrocalcinosis

Abdomen Gastroin testinal:
steatorrhea
severe fat maldigestion

Chest External Features:
narrow thorax

Growth Weight:
low birth weight

Head And Neck Head:
smaller occipito-frontal head circumference than controls

Respiratory Lung:
respiratory distress in neonatal period

Abdomen Liver:
hepatomegaly

Growth Height:
short stature

Neoplasia:
myelodysplasia
acute myelogenous leukemia

Abdomen Pancreas:
exocrine pancreatic insufficiency
pancreatic lipomatosis

Skeletal Pelvis:
narrow sacroiliac notch
coxa vara

Neurologic Central Nervous System:
developmental delay
learning disabilities
mild mental retardation decrease global brain volume
smaller age- and head size-adjusted areas of posterior fossa, vermis, corpus callosum, and pons than healthy controls
larger cerebrum-vermis ratio than the healthy controls

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

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

Cardiovascular Heart:
myocardial necrosis

Chest RibsSternum Clavicles And Scapulae:
costochondral thickening
irregular ossification at anterior rib ends


Clinical features from OMIM:

260400

Human phenotypes related to Shwachman-Diamond Syndrome:

55 31 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteopenia 55 31 frequent (33%) Frequent (79-30%) HP:0000938
2 intellectual disability 55 31 frequent (33%) Frequent (79-30%) HP:0001249
3 gait disturbance 55 31 occasional (7.5%) Occasional (29-5%) HP:0001288
4 failure to thrive 55 31 frequent (33%) Frequent (79-30%) HP:0001508
5 scoliosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002650
6 global developmental delay 55 31 frequent (33%) Frequent (79-30%) HP:0001263
7 hepatomegaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0002240
8 delayed skeletal maturation 55 31 frequent (33%) Frequent (79-30%) HP:0002750
9 carious teeth 55 31 occasional (7.5%) Occasional (29-5%) HP:0000670
10 pectus carinatum 55 31 occasional (7.5%) Occasional (29-5%) HP:0000768
11 malabsorption 55 31 frequent (33%) Frequent (79-30%) HP:0002024
12 short stature 55 31 frequent (33%) Frequent (79-30%) HP:0004322
13 ichthyosis 55 31 frequent (33%) Frequent (79-30%) HP:0008064
14 type i diabetes mellitus 55 31 occasional (7.5%) Occasional (29-5%) HP:0100651
15 anemia 55 31 frequent (33%) Frequent (79-30%) HP:0001903
16 bone marrow hypocellularity 55 31 occasional (7.5%) Occasional (29-5%) HP:0005528
17 aplastic anemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001915
18 myelodysplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002863
19 acute myeloid leukemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0004808
20 abnormality of the metaphysis 55 31 frequent (33%) Frequent (79-30%) HP:0000944
21 short thorax 55 31 occasional (7.5%) Occasional (29-5%) HP:0010306
22 microdontia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000691
23 thrombocytopenia 55 31 frequent (33%) Frequent (79-30%) HP:0001873
24 exocrine pancreatic insufficiency 55 31 hallmark (90%) Very frequent (99-80%) HP:0001738
25 recurrent infections 55 31 frequent (33%) Frequent (79-30%) HP:0002719
26 neutropenia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001875
27 eczema 55 31 frequent (33%) Frequent (79-30%) HP:0000964
28 recurrent aphthous stomatitis 55 31 occasional (7.5%) Occasional (29-5%) HP:0011107
29 generalized hypotonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001290
30 intellectual disability, mild 31 HP:0001256
31 pancytopenia 31 HP:0001876
32 ovoid vertebral bodies 31 HP:0003300
33 narrow chest 31 HP:0000774
34 growth delay 55 Frequent (79-30%)
35 specific learning disability 31 HP:0001328
36 elevated hepatic transaminases 31 HP:0002910
37 metaphyseal chondrodysplasia 31 HP:0005871
38 persistence of hemoglobin f 31 HP:0011904
39 nephrocalcinosis 31 HP:0000121
40 narrow sacroiliac notch 31 HP:0008803
41 coxa vara 31 HP:0002812
42 proximal femoral metaphyseal irregularity 31 very rare (1%) HP:0003411
43 neonatal respiratory distress 31 HP:0002643
44 steatorrhea 31 HP:0002570
45 small for gestational age 31 HP:0001518
46 leukemia 55 Occasional (29-5%)
47 anterior rib cupping 31 very rare (1%) HP:0000907
48 metaphyseal sclerosis 31 HP:0004979
49 metaphyseal widening 31 HP:0003016
50 proximal femoral epiphysiolysis 31 HP:0006461

MGI Mouse Phenotypes related to Shwachman-Diamond Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.06 AGO2 ARHGEF12 EIF6 FPR1 KMT2A MPL
2 growth/size/body region MP:0005378 10 AGO2 ARHGEF12 EIF6 KMT2A MPL NPM1
3 hematopoietic system MP:0005397 9.85 SBDS TNFRSF11B VEGFA AGO2 ARHGEF12 FPR1
4 immune system MP:0005387 9.65 AGO2 ARHGEF12 FPR1 KMT2A MPL NPM1
5 mortality/aging MP:0010768 9.44 DNAJC21 EIF6 FPR1 KMT2A MPL NIP7

Drugs & Therapeutics for Shwachman-Diamond Syndrome

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

(show top 50) (show all 68)
# 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, Investigational Phase 2, Phase 3 24356-66-9 21704 32326
4
Lenograstim Approved, Investigational 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
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177
17
Melphalan Approved Phase 1, Phase 2, Early Phase 1 148-82-3 460612 4053
18
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
19
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
20
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 46835353 6436030 5284616
21
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492
22 Thiotepa Approved, Investigational Phase 1, Phase 2 52-24-4 5453
23
Mycophenolate mofetil Approved, Investigational Phase 2,Phase 1 128794-94-5 5281078
24
Mycophenolic acid Approved Phase 2,Phase 1 24280-93-1 446541
25
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
26
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
27
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
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 Vidarabine Phosphate Phase 2
32 Antiemetics Phase 1, Phase 2
33 Anti-Inflammatory Agents Phase 1, Phase 2
34 Antineoplastic Agents, Hormonal Phase 1, Phase 2
35 Autonomic Agents Phase 1, Phase 2
36 Calcineurin Inhibitors Phase 1, Phase 2
37 Gastrointestinal Agents Phase 1, Phase 2
38 glucocorticoids Phase 1, Phase 2
39 Hormone Antagonists Phase 1, Phase 2
40 Hormones Phase 1, Phase 2
41 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
42 Liver Extracts Phase 1, Phase 2
43 Methylprednisolone acetate Phase 1, Phase 2
44 Methylprednisolone Hemisuccinate Phase 1, Phase 2
45 Neuroprotective Agents Phase 1, Phase 2
46 Peripheral Nervous System Agents Phase 1, Phase 2
47 Pharmaceutical Solutions Phase 1, Phase 2
48 Prednisolone acetate Phase 1, Phase 2
49 Prednisolone hemisuccinate Phase 1, Phase 2
50 Prednisolone phosphate Phase 1, Phase 2

Interventional clinical trials:

(show all 14)

# 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 Fludarabine Phosphate, Cyclophosphamide, Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Blood Cancer Recruiting NCT03333486 Phase 2 Cyclophosphamide;Fludarabine Phosphate
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 Treosulfan and Fludarabine Phosphate Before Donor Stem Cell Transplant in Treating Patients With Nonmalignant Inherited Disorders Suspended NCT00919503 Phase 2 Cyclosporine;Fludarabine Phosphate;Methotrexate;Mycophenolate Mofetil;Tacrolimus;Treosulfan
8 BMT Abatacept for Non-Malignant Diseases Recruiting NCT01917708 Phase 1 Abatacept
9 Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant Diseases Terminated NCT02231710 Phase 1
10 Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to Treatment Completed NCT00499070
11 Cancer in Inherited Bone Marrow Failure Syndromes Recruiting NCT00027274
12 CD34+ (Non-Malignant) Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation Recruiting NCT01966367 Early Phase 1
13 Hematopoietic Stem Cell Transplant for High Risk Hemoglobinopathies Recruiting NCT02179359 Reduced Toxicity Ablative Regimen;Reduced Intensity Preparative Regimen;Myeloablative Preparative Regimen
14 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:

# Genetic test Affiliating Genes
1 Shwachman Syndrome 28 SBDS

Anatomical Context for Shwachman-Diamond Syndrome

MalaCards organs/tissues related to Shwachman-Diamond Syndrome:

38
Bone, Bone Marrow, Pancreas, Myeloid, Liver, Brain, Neutrophil

Publications for Shwachman-Diamond Syndrome

Articles related to Shwachman-Diamond Syndrome:

(show top 50) (show all 211)
# Title Authors Year
1
Shwachman-Diamond Syndrome Protein SBDS Maintains Human Telomeres by Regulating Telomerase Recruitment. ( 29444436 )
2018
2
Association of isochromosome (7)(q10) in Shwachman-Diamond syndrome with the severity of cytopenia. ( 29375851 )
2018
3
Novel recurrent chromosome anomalies in Shwachman-Diamond syndrome. ( 28130858 )
2017
4
Ataluren-driven restoration of Shwachman-Bodian-Diamond syndrome protein function in Shwachman-Diamond syndrome bone marrow cells. ( 29285795 )
2017
5
Multiple and Bilateral Cilioretinal Arteries with Shwachman-Diamond Syndrome. ( 28823349 )
2017
6
The Greek Registry of Shwachman Diamond-Syndrome: Molecular and clinical data. ( 28509441 )
2017
7
Dysplastic neutrophils in the bone marrow of a Shwachman-Diamond syndrome patient. ( 28684451 )
2017
8
Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome. ( 28062395 )
2017
9
Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome. ( 28942353 )
2017
10
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
11
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
12
Structural dynamics of the yeast Shwachman-Diamond syndrome protein (Sdo1) on the ribosome and its implication in the 60S subunit maturation. ( 26850260 )
2016
13
Thoracic Hypoplasia at Birth as Presenting Feature of Shwachman-Diamond Syndrome in Twins. ( 27617157 )
2016
14
New insights into the Shwachman-Diamond Syndrome-related haematological disorder: hyper-activation of mTOR and STAT3 in leukocytes. ( 27658964 )
2016
15
Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome. ( 27146429 )
2016
16
A unique case of Shwachman-Diamond syndrome presenting with congenital hypopituitarism. ( 27754968 )
2016
17
Novel myopathy in a newborn with Shwachman-Diamond syndrome and review of neonatal presentation. ( 26866830 )
2016
18
Shwachman-Diamond syndrome presenting with early ichthyosis, associated dermal and epidermal intracellular lipid droplets, hypoglycemia, and later distinctive clinical SDS phenotype. ( 27127007 )
2016
19
Defective Guanine Nucleotide Exchange in the Elongation Factor-like 1 (EFL1) GTPase by Mutations in the Shwachman-Diamond Syndrome Protein. ( 25991726 )
2015
20
Abnormal circumferential strain measured by echocardiography is present in patients with Shwachman-Diamond syndrome despite normal shortening fraction. ( 25732529 )
2015
21
Two cases of Shwachman-Diamond syndrome in adolescents confirmed by genetic analysis. ( 25729736 )
2015
22
Shwachman-Diamond syndrome (SDS) in a preterm neonate. ( 26081292 )
2015
23
A novel mouse model provides insights into the neutropenia associated with the ribosomopathy Shwachman-Diamond syndrome. ( 26432381 )
2015
24
Deletion of Mitochondrial Porin Alleviates Stress Sensitivity in the Yeast Model of Shwachman-Diamond Syndrome. ( 26743985 )
2015
25
Nutritional status in children with shwachman-diamond syndrome. ( 25742431 )
2015
26
Cytogenetic monitoring in shwachman-diamond syndrome: a note on clonal progression and a practical warning. ( 25887640 )
2015
27
Diffuse alterations in grey and white matter associated with cognitive impairment in Shwachman-Diamond syndrome: evidence from a multimodal approach. ( 25844324 )
2015
28
RADIOSENSITIVITY IN LYMPHOBLASTOID CELL LINES DERIVED FROM SHWACHMAN-DIAMOND SYNDROME PATIENTS. ( 25870433 )
2015
29
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
30
Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome. ( 24898207 )
2014
31
Young-age-onset pancreatoduodenal carcinoma in Shwachman-Diamond syndrome. ( 24629175 )
2014
32
CNS lymphoma in a patient with Shwachman Diamond syndrome. ( 24307640 )
2014
33
Shwachman-Diamond syndrome with autoimmune-like liver disease and enteropathy mimicking celiac disease. ( 25129842 )
2014
34
Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome. ( 23315050 )
2013
35
Early spontaneous recovery of exocrine pancreatic insufficiency in a 3-year-old child with Shwachman-Diamond syndrome. ( 24052373 )
2013
36
Atrioventricular septal defect in a case of Shwachman-Diamond syndrome. ( 23803361 )
2013
37
Bispectral index monitoring in a patient with combination of congenital insensitivity to pain with anhidrosis (CIPA) and Shwachman-Diamond syndrome. ( 23828451 )
2013
38
Mitochondrial function is impaired in yeast and human cellular models of Shwachman Diamond syndrome. ( 23792098 )
2013
39
Clinical and molecular pathophysiology of Shwachman-Diamond syndrome: an update. ( 23351992 )
2013
40
Cardiomyopathies and congenital heart diseases in Shwachman-Diamond syndrome: a national survey. ( 23164595 )
2013
41
Molecular characteristics of a pancreatic adenocarcinoma associated with Shwachman-Diamond syndrome. ( 23303473 )
2013
42
Endocrine evaluation of children with and without Shwachman-Bodian-Diamond syndrome gene mutations and Shwachman-Diamond syndrome. ( 23305959 )
2013
43
Shwachman-Diamond syndrome: first molecular diagnosis in a Brazilian child. ( 24106450 )
2013
44
Different loss of material in recurrent chromosome 20 interstitial deletions in Shwachman-Diamond syndrome and in myeloid neoplasms. ( 24330778 )
2013
45
Molecular diagnosis of shwachman-diamond syndrome presenting with pancytopenia at an early age: the first report from Turkey. ( 24426364 )
2013
46
Guanine nucleotide exchange in the ribosomal GTPase EFL1 is modulated by the protein mutated in the Shwachman-Diamond syndrome. ( 23831625 )
2013
47
Variable Clinical Presentation of Shwachman-Diamond Syndrome: Update from the North American Shwachman-Diamond Syndrome Registry. ( 24388329 )
2013
48
Impaired growth, hematopoietic colony formation, and ribosome maturation in human cells depleted of Shwachman-Diamond syndrome protein SBDS. ( 22997148 )
2013
49
Shwachman-Diamond syndrome: diarrhea, no longer required? ( 22935661 )
2013
50
Increase in central striatal dopamine transporters in patients with Shwachman-Diamond syndrome: additional evidence of a brain phenotype. ( 23239620 )
2013

Variations for Shwachman-Diamond Syndrome

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

71
# 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 rs373730800

ClinVar genetic disease variations for Shwachman-Diamond Syndrome:

6 (show all 15)
# Gene Variation Type Significance SNP ID Assembly Location
1 SBDS NM_016038.3(SBDS): c.258+1G> C single nucleotide variant Pathogenic rs113993992 GRCh37 Chromosome 7, 66459198: 66459198
2 SBDS NM_016038.3(SBDS): c.297_300delAAGA (p.Glu99Aspfs) deletion Pathogenic rs113993994 GRCh37 Chromosome 7, 66458363: 66458366
3 SBDS NM_016038.3(SBDS): c.377G> C (p.Arg126Thr) single nucleotide variant Pathogenic rs113993995 GRCh37 Chromosome 7, 66458286: 66458286
4 SBDS NM_016038.3(SBDS): c.505C> T (p.Arg169Cys) single nucleotide variant Pathogenic rs113993996 GRCh37 Chromosome 7, 66456243: 66456243
5 SBDS NM_016038.3(SBDS): c.624+1G> C single nucleotide variant Pathogenic rs113993997 GRCh37 Chromosome 7, 66456123: 66456123
6 SBDS NM_016038.3(SBDS): c.652C> T (p.Arg218Ter) single nucleotide variant Pathogenic rs113993998 GRCh37 Chromosome 7, 66453459: 66453459
7 SBDS SBDS, 1-BP INS, 96A insertion Pathogenic
8 SBDS NM_016038.2(SBDS): c.183_184delTAinsCT (p.Lys62Ter) indel Pathogenic rs113993991 GRCh37 Chromosome 7, 66459273: 66459274
9 SBDS NM_016038.3(SBDS): c.258+2T> C single nucleotide variant Pathogenic,risk factor rs113993993 GRCh37 Chromosome 7, 66459197: 66459197
10 SBDS NM_016038.3(SBDS): c.24C> A (p.Asn8Lys) single nucleotide variant Pathogenic rs28942099 GRCh37 Chromosome 7, 66460381: 66460381
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
13 SRP54 NM_003136.3(SRP54): c.343A> G (p.Thr115Ala) single nucleotide variant Pathogenic GRCh37 Chromosome 14, 35476576: 35476576
14 SRP54 NM_003136.3(SRP54): c.349_351delACA (p.Thr117del) deletion Pathogenic GRCh38 Chromosome 14, 35007376: 35007378
15 SRP54 NM_003136.3(SRP54): c.677G> A (p.Gly226Glu) single nucleotide variant Pathogenic GRCh38 Chromosome 14, 35013386: 35013386

Copy number variations for Shwachman-Diamond Syndrome from CNVD:

7
# 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 KEGG:

36
# Name Kegg Source Accession
1 Ribosome biogenesis in eukaryotes hsa03008

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

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

GO Terms for Shwachman-Diamond Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 intracellular ribonucleoprotein complex GO:0030529 9.26 AGO2 NPM1 RPS27L SRP54
2 preribosome, large subunit precursor GO:0030687 9.16 EIF6 NIP7
3 nucleolus GO:0005730 9.1 DNAJC21 EIF6 NIP7 NPM1 SBDS SRP54

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

# Name GO ID Score Top Affiliating Genes
1 translation GO:0006412 9.62 AGO2 EFL1 EIF6 RPS27L
2 positive regulation of translation GO:0045727 9.43 EIF6 NPM1 RPS27L
3 ribosome biogenesis GO:0042254 9.26 EFL1 EIF6 NIP7 SBDS
4 ribosome assembly GO:0042255 9.16 NIP7 NPM1
5 mature ribosome assembly GO:0042256 8.8 EFL1 EIF6 SBDS

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

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.7 AGO2 DNAJC21 NIP7 NPM1 RPS27L SBDS
2 ribosomal large subunit binding GO:0043023 8.96 EIF6 NPM1
3 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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