SDS
MCID: SHW002
MIFTS: 61

Shwachman-Diamond Syndrome (SDS) malady

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

Aliases & Classifications for Shwachman-Diamond Syndrome

Aliases & Descriptions for Shwachman-Diamond Syndrome:

Name: Shwachman-Diamond Syndrome 54 38 12 23 50 24 25 56 66 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 66
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;

HPO:

32
shwachman-diamond syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 260400
Disease Ontology 12 DOID:0060479
ICD10 33 D61.0
MeSH 42 C537330
Orphanet 56 ORPHA811
ICD10 via Orphanet 34 D61.0
MedGen 40 C0272170

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. 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: 6/23/2015

MalaCards based summary : Shwachman-Diamond Syndrome, also known as shwachman syndrome, is related to hemoglobin sd and salla disease, 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 are Ribosome biogenesis in eukaryotes and HIF-1-alpha transcription factor network. 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 cardiovascular system

Disease Ontology : 12 A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure 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 characterized primarily by exocrine pancreatic insufficiency, hematologic abnormalities,... (260400) more...

UniProtKB/Swiss-Prot : 66 Shwachman-Diamond syndrome: Autosomal recessive disorder characterized by pancreatic exocrine insufficiency, hematologic dysfunction, and skeletal abnormalities.

Wikipedia : 71 Shwachman–Diamond syndrome (SDS) or Shwachman–Bodian–Diamond syndrome is a rare congenital... 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 101)
id Related Disease Score Top Affiliating Genes
1 hemoglobin sd 12.0
2 salla disease 11.4
3 trichohepatoenteric syndrome 1 11.0
4 semantic dementia 11.0
5 sydenham chorea 11.0
6 rheumatic encephalitis 11.0
7 autosomal dominant nonsyndromic deafness 69 10.9
8 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 10.8
9 microcephaly 1, primary, autosomal recessive 10.8
10 macrocephaly/autism syndrome 10.8
11 desbuquois dysplasia 1 10.8
12 sandhoff disease, infantile, juvenile, and adult forms 10.8
13 multiple system atrophy 10.8
14 microcephaly 10, primary, autosomal recessive 10.7
15 short stature, idiopathic familial 10.7
16 macular dystrophy, vitelliform, 4 10.7
17 mental retardation and microcephaly with pontine and cerebellar hypoplasia 10.7
18 frontotemporal lobar degeneration with ubiquitin-positive inclusions 10.7
19 microcephaly 5, primary, autosomal recessive 10.7
20 short stature with nonspecific skeletal abnormalities 10.7
21 acid-labile subunit, deficiency of 10.7
22 macular dystrophy, vitelliform, 5 10.7
23 lissencephaly 4 10.7
24 desbuquois dysplasia 2 10.7
25 nanophthalmos 4 10.7
26 pancreatitis 10.4
27 neutropenia 10.2
28 leukemia 10.2
29 hematopoietic stem cell transplantation 10.2
30 pancytopenia 10.1
31 osteoporosis 10.1
32 liver disease 10.1
33 hypoglycemia 10.1
34 cystic fibrosis 10.1
35 asphyxiating thoracic dystrophy 10.1
36 lymphoma 10.1
37 bacteremia 10.1
38 diamond-blackfan anemia 10.1
39 cardiomyopathy 10.1
40 myelodysplastic syndrome 10.1
41 hepatitis 10.1
42 retinitis 10.0
43 pancreas adenocarcinoma 10.0 TNFRSF11B VEGFA
44 chromosomal disease 10.0 TNFRSF11B VEGFA
45 glycogen storage disease type 0 10.0 KMT2A NPM1
46 central pontine myelinolysis 9.9
47 dermatofibrosarcoma protuberans 9.9
48 celiac disease 9.9
49 diarrhea 9.9
50 ichthyosis 9.9

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 by clinical synopsis from OMIM:

260400

Clinical features from OMIM:

260400

Human phenotypes related to Shwachman-Diamond Syndrome:

56 32 (show top 50) (show all 53)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteopenia 56 32 Frequent (79-30%) HP:0000938
2 intellectual disability 56 32 Frequent (79-30%) HP:0001249
3 gait disturbance 56 32 Occasional (29-5%) HP:0001288
4 failure to thrive 56 32 Frequent (79-30%) HP:0001508
5 scoliosis 56 32 Occasional (29-5%) HP:0002650
6 global developmental delay 56 32 Frequent (79-30%) HP:0001263
7 hepatomegaly 56 32 Occasional (29-5%) HP:0002240
8 delayed skeletal maturation 56 32 Frequent (79-30%) HP:0002750
9 carious teeth 56 32 Occasional (29-5%) HP:0000670
10 pectus carinatum 56 32 Occasional (29-5%) HP:0000768
11 malabsorption 56 32 Frequent (79-30%) HP:0002024
12 short stature 56 32 Frequent (79-30%) HP:0004322
13 ichthyosis 56 32 Frequent (79-30%) HP:0008064
14 type i diabetes mellitus 56 32 Occasional (29-5%) HP:0100651
15 anemia 56 32 Frequent (79-30%) HP:0001903
16 bone marrow hypocellularity 56 32 Occasional (29-5%) HP:0005528
17 aplastic anemia 56 32 Occasional (29-5%) HP:0001915
18 myelodysplasia 56 32 Occasional (29-5%) HP:0002863
19 acute myeloid leukemia 56 32 Occasional (29-5%) HP:0004808
20 abnormality of the metaphyses 56 32 Frequent (79-30%) HP:0000944
21 short thorax 56 32 Occasional (29-5%) HP:0010306
22 microdontia 56 32 Occasional (29-5%) HP:0000691
23 thrombocytopenia 56 32 Frequent (79-30%) HP:0001873
24 exocrine pancreatic insufficiency 56 32 Very frequent (99-80%) HP:0001738
25 recurrent infections 56 32 Frequent (79-30%) HP:0002719
26 neutropenia 56 32 Very frequent (99-80%) HP:0001875
27 eczema 56 32 Frequent (79-30%) HP:0000964
28 recurrent aphthous stomatitis 56 32 Occasional (29-5%) HP:0011107
29 generalized hypotonia 56 32 Very frequent (99-80%) HP:0001290
30 intellectual disability, mild 32 HP:0001256
31 pancytopenia 32 HP:0001876
32 ovoid vertebral bodies 32 HP:0003300
33 narrow chest 32 HP:0000774
34 growth delay 56 Frequent (79-30%)
35 elevated hepatic transaminases 32 HP:0002910
36 metaphyseal chondrodysplasia 32 HP:0005871
37 specific learning disability 32 HP:0001328
38 persistence of hemoglobin f 32 HP:0011904
39 nephrocalcinosis 32 HP:0000121
40 narrow sacroiliac notch 32 HP:0008803
41 coxa vara 32 HP:0002812
42 proximal femoral metaphyseal irregularity 32 HP:0003411
43 neonatal respiratory distress 32 HP:0002643
44 steatorrhea 32 HP:0002570
45 small for gestational age 32 HP:0001518
46 leukemia 56 Occasional (29-5%)
47 anterior rib cupping 32 HP:0000907
48 metaphyseal sclerosis 32 HP:0004979
49 metaphyseal widening 32 HP:0003016
50 proximal femoral epiphysiolysis 32 HP:0006461

MGI Mouse Phenotypes related to Shwachman-Diamond Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.06 AGO2 ARHGEF12 EIF6 FPR1 KMT2A NPM1
2 cardiovascular system MP:0005385 9.98 AGO2 ARHGEF12 KMT2A NPM1 SBDS TNFRSF11B
3 growth/size/body region MP:0005378 9.92 TNFRSF11B VEGFA AGO2 ARHGEF12 EIF6 KMT2A
4 hematopoietic system MP:0005397 9.86 AGO2 ARHGEF12 FPR1 KMT2A NPM1 SBDS
5 embryo MP:0005380 9.85 AGO2 ARHGEF12 KMT2A NPM1 SBDS VEGFA
6 immune system MP:0005387 9.76 FPR1 KMT2A NPM1 SBDS TNFRSF11B VEGFA
7 liver/biliary system MP:0005370 9.35 EIF6 KMT2A NPM1 SBDS VEGFA
8 mortality/aging MP:0010768 9.28 AGO2 ARHGEF12 EIF6 FPR1 KMT2A NPM1

Drugs & Therapeutics for Shwachman-Diamond Syndrome

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

(show top 50) (show all 66)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Busulfan Approved, Investigational Phase 2, Phase 3, Phase 1 55-98-1 2478
2
Fludarabine Approved Phase 2, Phase 3, 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 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 Antineoplastic Agents, Alkylating Phase 2, Phase 3, Phase 1
13 Antiviral Agents Phase 2, Phase 3
14 Immunosuppressive Agents Phase 2, Phase 3, Phase 1
15 Adjuvants, Immunologic Phase 2, Phase 3
16 Antirheumatic Agents Phase 2, Phase 3,Phase 1
17
Cyclosporine Approved, Investigational, Vet_approved Phase 2,Phase 1 79217-60-0, 59865-13-3 5284373 6435893
18
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
19
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
20
Mycophenolate mofetil Approved, Investigational Phase 2,Phase 1 128794-94-5 5281078
21
Mycophenolic acid Approved Phase 2,Phase 1 24280-93-1 446541
22
Tacrolimus Approved, Investigational Phase 2,Phase 1 104987-11-3 445643 439492
23
Melphalan Approved Phase 1, Phase 2 148-82-3 4053 460612
24
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
25
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
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 54575, 6560146 143
30 Anti-Bacterial Agents Phase 2
31 Antibiotics, Antitubercular Phase 2
32 Antifungal Agents Phase 2
33 Calcineurin Inhibitors Phase 2,Phase 1
34 Dermatologic Agents Phase 2
35 Folic Acid Antagonists Phase 2
36 Nucleic Acid Synthesis Inhibitors Phase 2
37
Treosulfan Phase 2 299-75-2 9296
38 Vidarabine Phosphate Phase 2
39 Vitamin B Complex Phase 2
40 Antiemetics Phase 1, Phase 2
41 Anti-Inflammatory Agents Phase 1, Phase 2
42 Antineoplastic Agents, Hormonal Phase 1, Phase 2
43 Autonomic Agents Phase 1, Phase 2
44 Gastrointestinal Agents Phase 1, Phase 2
45 glucocorticoids Phase 1, Phase 2
46 Hormone Antagonists Phase 1, Phase 2
47 Hormones Phase 1, Phase 2
48 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
49 Liver Extracts Phase 1, Phase 2
50 Methylprednisolone acetate Phase 1, Phase 2

Interventional clinical trials:

(show all 13)
id Name Status NCT ID Phase
1 Stem Cell Transplant for Bone Marrow Failure Syndromes Completed NCT00176878 Phase 2, Phase 3
2 Stem Cell Transplant for Hemoglobinopathy Active, not recruiting NCT00176852 Phase 2, Phase 3
3 Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes Completed NCT00004787 Phase 2
4 Treosulfan and Fludarabine Phosphate Before Donor Stem Cell Transplant in Treating Patients With Nonmalignant Inherited Disorders Recruiting NCT00919503 Phase 2
5 CD34+ (Malignant) Stem Cell Selection for Patients Receiving Allogenic Stem Cell Transplant Recruiting NCT02061800 Phase 1, Phase 2
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
7 BMT Abatacept for Non-Malignant Diseases Recruiting NCT01917708 Phase 1
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+ Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation for Non-Malignant Disease Recruiting NCT01966367
12 Hematopoietic Stem Cell Transplant for High Risk Hemoglobinopathies Recruiting NCT02179359
13 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation Terminated NCT01319851

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, Neutrophil, Liver, Brain

Publications for Shwachman-Diamond Syndrome

Articles related to Shwachman-Diamond Syndrome:

(show top 50) (show all 204)
id Title Authors Year
1
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
2
Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome. ( 28062395 )
2017
3
Novel recurrent chromosome anomalies in Shwachman-Diamond syndrome. ( 28130858 )
2017
4
The Greek Registry of Shwachman Diamond-Syndrome: Molecular and clinical data. ( 28509441 )
2017
5
Shwachman-Diamond syndrome presenting with early ichthyosis, associated dermal and epidermal intracellular lipid droplets, hypoglycemia, and later distinctive clinical SDS phenotype. ( 27127007 )
2016
6
Thoracic Hypoplasia at Birth as Presenting Feature of Shwachman-Diamond Syndrome in Twins. ( 27617157 )
2016
7
A unique case of Shwachman-Diamond syndrome presenting with congenital hypopituitarism. ( 27754968 )
2016
8
Structural dynamics of the yeast Shwachman-Diamond syndrome protein (Sdo1) on the ribosome and its implication in the 60S subunit maturation. ( 26850260 )
2016
9
Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome. ( 27146429 )
2016
10
New insights into the Shwachman-Diamond Syndrome-related haematological disorder: hyper-activation of mTOR and STAT3 in leukocytes. ( 27658964 )
2016
11
Novel myopathy in a newborn with Shwachman-Diamond syndrome and review of neonatal presentation. ( 26866830 )
2016
12
Abnormal circumferential strain measured by echocardiography is present in patients with Shwachman-Diamond syndrome despite normal shortening fraction. ( 25732529 )
2015
13
Diffuse alterations in grey and white matter associated with cognitive impairment in Shwachman-Diamond syndrome: evidence from a multimodal approach. ( 25844324 )
2015
14
RADIOSENSITIVITY IN LYMPHOBLASTOID CELL LINES DERIVED FROM SHWACHMAN-DIAMOND SYNDROME PATIENTS. ( 25870433 )
2015
15
Defective Guanine Nucleotide Exchange in the Elongation Factor-like 1 (EFL1) GTPase by Mutations in the Shwachman-Diamond Syndrome Protein. ( 25991726 )
2015
16
Nutritional status in children with shwachman-diamond syndrome. ( 25742431 )
2015
17
Shwachman-Diamond syndrome (SDS) in a preterm neonate. ( 26081292 )
2015
18
A novel mouse model provides insights into the neutropenia associated with the ribosomopathy Shwachman-Diamond syndrome. ( 26432381 )
2015
19
Cytogenetic monitoring in shwachman-diamond syndrome: a note on clonal progression and a practical warning. ( 25887640 )
2015
20
Two cases of Shwachman-Diamond syndrome in adolescents confirmed by genetic analysis. ( 25729736 )
2015
21
Deletion of Mitochondrial Porin Alleviates Stress Sensitivity in the Yeast Model of Shwachman-Diamond Syndrome. ( 26743985 )
2015
22
CNS lymphoma in a patient with Shwachman Diamond syndrome. ( 24307640 )
2014
23
Young-age-onset pancreatoduodenal carcinoma in Shwachman-Diamond syndrome. ( 24629175 )
2014
24
Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome. ( 24898207 )
2014
25
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
26
Shwachman-Diamond syndrome with autoimmune-like liver disease and enteropathy mimicking celiac disease. ( 25129842 )
2014
27
Variable Clinical Presentation of Shwachman-Diamond Syndrome: Update from the North American Shwachman-Diamond Syndrome Registry. ( 24388329 )
2013
28
Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome. ( 23315050 )
2013
29
Guanine nucleotide exchange in the ribosomal GTPase EFL1 is modulated by the protein mutated in the Shwachman-Diamond syndrome. ( 23831625 )
2013
30
Cardiomyopathies and congenital heart diseases in Shwachman-Diamond syndrome: a national survey. ( 23164595 )
2013
31
Proteolytic autodigestion: common tissue pathology in Shwachman-Diamond syndrome? ( 24107623 )
2013
32
Shwachman-Diamond syndrome: first molecular diagnosis in a Brazilian child. ( 24106450 )
2013
33
Atrioventricular septal defect in a case of Shwachman-Diamond syndrome. ( 23803361 )
2013
34
Endocrine evaluation of children with and without Shwachman-Bodian-Diamond syndrome gene mutations and Shwachman-Diamond syndrome. ( 23305959 )
2013
35
Impaired growth, hematopoietic colony formation, and ribosome maturation in human cells depleted of Shwachman-Diamond syndrome protein SBDS. ( 22997148 )
2013
36
Shwachman-Diamond syndrome: diarrhea, no longer required? ( 22935661 )
2013
37
Clinical and molecular pathophysiology of Shwachman-Diamond syndrome: an update. ( 23351992 )
2013
38
Different loss of material in recurrent chromosome 20 interstitial deletions in Shwachman-Diamond syndrome and in myeloid neoplasms. ( 24330778 )
2013
39
Mitochondrial function is impaired in yeast and human cellular models of Shwachman Diamond syndrome. ( 23792098 )
2013
40
Pluripotent stem cell models of Shwachman-Diamond syndrome reveal a common mechanism for pancreatic and hematopoietic dysfunction. ( 23602541 )
2013
41
Increase in central striatal dopamine transporters in patients with Shwachman-Diamond syndrome: additional evidence of a brain phenotype. ( 23239620 )
2013
42
Molecular characteristics of a pancreatic adenocarcinoma associated with Shwachman-Diamond syndrome. ( 23303473 )
2013
43
Molecular diagnosis of shwachman-diamond syndrome presenting with pancytopenia at an early age: the first report from Turkey. ( 24426364 )
2013
44
Early spontaneous recovery of exocrine pancreatic insufficiency in a 3-year-old child with Shwachman-Diamond syndrome. ( 24052373 )
2013
45
Bispectral index monitoring in a patient with combination of congenital insensitivity to pain with anhidrosis (CIPA) and Shwachman-Diamond syndrome. ( 23828451 )
2013
46
Breast cancer in a case of Shwachman Diamond syndrome. ( 22213587 )
2012
47
Shwachman-Diamond Syndrome: are we missing many? ( 23024080 )
2012
48
Impaired ribosomal subunit association in Shwachman-Diamond syndrome. ( 23115272 )
2012
49
Ubiquitin-proteasome-rich cytoplasmic structures in neutrophils of patients with Shwachman-Diamond syndrome. ( 22271888 )
2012
50
Pregnancy in Shwachman-Diamond syndrome: a novel genetic mutation with minimal consequence. ( 23125299 )
2012

Variations for Shwachman-Diamond Syndrome

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

66
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
2 10.77 NPM1 VEGFA

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 translation GO:0006412 9.43 AGO2 EFL1 EIF6
2 positive regulation of translation GO:0045727 9.32 EIF6 NPM1
3 miRNA mediated inhibition of translation GO:0035278 9.16 AGO2 EIF6
4 ribosome biogenesis GO:0042254 9.13 EFL1 EIF6 SBDS
5 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 core promoter binding GO:0001047 9.26 AGO2 NPM1
2 translation initiation factor activity GO:0003743 9.16 AGO2 EIF6
3 ribosomal large subunit binding GO:0043023 8.96 EIF6 NPM1
4 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....