MCID: SHW006
MIFTS: 62

Shwachman-Diamond Syndrome 1

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

Aliases & Classifications for Shwachman-Diamond Syndrome 1

MalaCards integrated aliases for Shwachman-Diamond Syndrome 1:

Name: Shwachman-Diamond Syndrome 1 57
Shwachman-Diamond Syndrome 57 38 12 24 53 25 59 75 37 55 15
Shwachman Syndrome 12 76 24 25 59 29 6 44 40 73
Shwachman-Bodian-Diamond Syndrome 12 24 25 59 13
Sds 57 53 25 59 75
Pancreatic Insufficiency and Bone Marrow Dysfunction 57 12 53 59
Shwachman-Bodian Syndrome 57 53 25
Lipomatosis of Pancreas, Congenital 57 53
Congenital Lipomatosis of Pancreas 53 25
Pancreatic Insufficiencybone Marrow Dysfunction 24
Metaphyseal Chondrodysplasia, Shwachman Type 25
Shwachman-Diamond Syndrome; Sds 57
Shwachman-Diamond-Oski Syndrome 25
Sds1 57

Characteristics:

Orphanet epidemiological data:

59
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:

57
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 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Shwachman-Diamond Syndrome 1

NIH Rare Diseases : 53 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.

MalaCards based summary : Shwachman-Diamond Syndrome 1, also known as shwachman-diamond syndrome, is related to diamond-blackfan anemia and salla disease. An important gene associated with Shwachman-Diamond Syndrome 1 is SBDS (SBDS, Ribosome Maturation Factor), and among its related pathways/superpathways are Ribosome biogenesis in eukaryotes and Translational Control. 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 osteopenia and intellectual disability

OMIM : 57 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 : 75 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.

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

Wikipedia : 76 Shwachman–Diamond syndrome (SDS), or Shwachman–Bodian–Diamond syndrome, is a rare congenital disorder... more...

GeneReviews: NBK1756

Related Diseases for Shwachman-Diamond Syndrome 1

Diseases in the Shwachman-Diamond Syndrome 1 family:

Shwachman-Diamond Syndrome 2

Diseases related to Shwachman-Diamond Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 149)
# Related Disease Score Top Affiliating Genes
1 diamond-blackfan anemia 30.6 MPL RPL5 RPS14
2 salla disease 11.6
3 semantic dementia 11.4
4 trichohepatoenteric syndrome 1 11.1
5 sydenham chorea 11.1
6 rheumatic encephalitis 11.1
7 deafness, autosomal dominant 69 11.0
8 shwachman-diamond syndrome 2 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 short stature, idiopathic, x-linked 10.8
18 mental retardation and microcephaly with pontine and cerebellar hypoplasia 10.8
19 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 10.8
20 microcephaly 5, primary, autosomal recessive 10.8
21 lissencephaly 4 10.8
22 microcephaly 10, primary, autosomal recessive 10.8
23 desbuquois dysplasia 2 10.8
24 acid-labile subunit deficiency 10.8
25 nanophthalmos 4 10.8
26 macular dystrophy, vitelliform, 4 10.8
27 macular dystrophy, vitelliform, 5 10.8
28 short stature with nonspecific skeletal abnormalities 10.8
29 microcephaly 17, primary, autosomal recessive 10.8
30 leukodystrophy, hypomyelinating, 17 10.8
31 free sialic acid storage disorders 10.8
32 inherited bone marrow failure syndromes 10.4 DNAJC21 SBDS
33 neutropenia 10.3
34 splenomegaly 10.3 MPL SBDS
35 retinitis 10.2
36 aging 10.0
37 neural tube defects 10.0
38 alcoholic hepatitis 10.0
39 macular retinal edema 10.0
40 retinitis pigmentosa 9.9
41 leber congenital amaurosis 4 9.9
42 myopia 9.9
43 gallbladder cancer 9.9
44 ocular hypertension 9.9
45 macular degeneration, age-related, 1 9.8
46 malaria 9.8
47 choroiditis 9.8
48 constipation 9.8
49 diabetic macular edema 9.8
50 aplastic anemia 9.7 DKC1 MPL RPL5 SBDS

Graphical network of the top 20 diseases related to Shwachman-Diamond Syndrome 1:



Diseases related to Shwachman-Diamond Syndrome 1

Symptoms & Phenotypes for Shwachman-Diamond Syndrome 1

Symptoms via clinical synopsis from OMIM:

57
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 Gastrointestinal:
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 Ribs Sternum Clavicles And Scapulae:
costochondral thickening
irregular ossification at anterior rib ends


Clinical features from OMIM:

260400

Human phenotypes related to Shwachman-Diamond Syndrome 1:

59 32 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteopenia 59 32 frequent (33%) Frequent (79-30%) HP:0000938
2 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
3 gait disturbance 59 32 occasional (7.5%) Occasional (29-5%) HP:0001288
4 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
5 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
6 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
7 hepatomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002240
8 delayed skeletal maturation 59 32 frequent (33%) Frequent (79-30%) HP:0002750
9 carious teeth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000670
10 pectus carinatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000768
11 malabsorption 59 32 frequent (33%) Frequent (79-30%) HP:0002024
12 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
13 ichthyosis 59 32 frequent (33%) Frequent (79-30%) HP:0008064
14 type i diabetes mellitus 59 32 occasional (7.5%) Occasional (29-5%) HP:0100651
15 anemia 59 32 frequent (33%) Frequent (79-30%) HP:0001903
16 bone marrow hypocellularity 59 32 occasional (7.5%) Occasional (29-5%) HP:0005528
17 aplastic anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001915
18 myelodysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002863
19 acute myeloid leukemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0004808
20 abnormality of the metaphysis 59 32 frequent (33%) Frequent (79-30%) HP:0000944
21 short thorax 59 32 occasional (7.5%) Occasional (29-5%) HP:0010306
22 microdontia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000691
23 thrombocytopenia 59 32 frequent (33%) Frequent (79-30%) HP:0001873
24 exocrine pancreatic insufficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0001738
25 recurrent infections 59 32 frequent (33%) Frequent (79-30%) HP:0002719
26 neutropenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001875
27 eczema 59 32 frequent (33%) Frequent (79-30%) HP:0000964
28 recurrent aphthous stomatitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0011107
29 generalized hypotonia 59 32 hallmark (90%) 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 59 Frequent (79-30%)
35 specific learning disability 32 HP:0001328
36 elevated hepatic transaminases 32 HP:0002910
37 metaphyseal chondrodysplasia 32 HP:0005871
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 very rare (1%) HP:0003411
43 neonatal respiratory distress 32 HP:0002643
44 steatorrhea 32 HP:0002570
45 small for gestational age 32 HP:0001518
46 leukemia 59 Occasional (29-5%)
47 anterior rib cupping 32 very rare (1%) HP:0000907
48 metaphyseal sclerosis 32 HP:0004979
49 metaphyseal widening 32 HP:0003016
50 proximal femoral epiphysiolysis 32 HP:0006461

GenomeRNAi Phenotypes related to Shwachman-Diamond Syndrome 1 according to GeneCards Suite gene sharing:

26 (show all 19)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 9.7 RPS14 EIF6 MPL RPL5
2 Decreased viability GR00240-S-1 9.7 MPL RPS14
3 Decreased viability GR00381-A-1 9.7 RPS14
4 Decreased viability GR00402-S-2 9.7 EIF6 MPL RPL5 RPS14
5 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.55 RPL5
6 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.55 RPS14
7 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.55 L3MBTL1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.55 L3MBTL1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.55 L3MBTL1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.55 L3MBTL1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.55 L3MBTL1 RPL5 RPS14
12 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.55 L3MBTL1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.55 RPL5
14 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.55 RPL5
15 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.55 RPS14
16 Increased shRNA abundance (Z-score > 2) GR00366-A-39 9.55 RPL5
17 Increased shRNA abundance (Z-score > 2) GR00366-A-78 9.55 L3MBTL1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.55 L3MBTL1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.55 L3MBTL1

MGI Mouse Phenotypes related to Shwachman-Diamond Syndrome 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.36 SBDS AGO2 DKC1 DNAJC21 EIF6 ELANE

Drugs & Therapeutics for Shwachman-Diamond Syndrome 1

Drugs for Shwachman-Diamond Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 69)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1,Early Phase 1,Not Applicable 55-98-1 2478
2
Fludarabine Approved Phase 2, Phase 3,Phase 3,Phase 1,Early Phase 1,Not Applicable 21679-14-1, 75607-67-9 30751
3
Vidarabine Approved, Investigational Phase 2, Phase 3,Phase 3 24356-66-9 32326 21704
4
Lenograstim Approved, Investigational Phase 2, Phase 3 135968-09-1
5
alemtuzumab Approved, Investigational Phase 2, Phase 3,Phase 1,Early Phase 1,Not Applicable 216503-57-0
6
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 1,Not Applicable 50-18-0, 6055-19-2 2907
7 Alkylating Agents Phase 2, Phase 3,Phase 3,Phase 1
8 Anti-Infective Agents Phase 2, Phase 3,Phase 3
9 Antilymphocyte Serum Phase 2, Phase 3,Phase 3,Not Applicable
10 Antimetabolites Phase 2, Phase 3,Phase 3,Phase 1
11 Antimetabolites, Antineoplastic Phase 2, Phase 3,Phase 3,Phase 1
12 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Phase 3,Phase 1
13 Antiviral Agents Phase 2, Phase 3,Phase 3
14 Immunosuppressive Agents Phase 2, Phase 3,Phase 3,Phase 1
15 Adjuvants, Immunologic Phase 2, Phase 3
16 Antirheumatic Agents Phase 2, Phase 3,Phase 1
17
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
18
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
19
Mycophenolate mofetil Approved, Investigational Phase 2,Phase 1 128794-94-5 5281078
20
Mycophenolic acid Approved Phase 2,Phase 1 24280-93-1 446541
21
Tacrolimus Approved, Investigational Phase 2,Phase 1 104987-11-3 445643 439492
22
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177
23
Melphalan Approved Phase 1, Phase 2,Phase 2,Early Phase 1 148-82-3 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
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030 46835353
27
Thiotepa Approved, Investigational Phase 1, Phase 2 52-24-4 5453
28
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
29
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
30
leucovorin Approved, Nutraceutical Phase 2 58-05-9 143 6006
31
Treosulfan Investigational Phase 2 299-75-2 9296
32 Vidarabine Phosphate Phase 2
33 Anti-Bacterial Agents Phase 2
34 Antibiotics, Antitubercular Phase 2
35 Antifungal Agents Phase 2
36 Antitubercular Agents Phase 2
37 Calcineurin Inhibitors Phase 2,Phase 1
38 Cyclosporins Phase 2,Phase 1
39 Dermatologic Agents Phase 2,Not Applicable
40 Folic Acid Antagonists Phase 2
41 Nucleic Acid Synthesis Inhibitors Phase 2
42 Vitamin B Complex Phase 2
43 Antiemetics Phase 1, Phase 2
44 Anti-Inflammatory Agents Phase 1, Phase 2
45 Antineoplastic Agents, Hormonal Phase 1, Phase 2
46 Autonomic Agents Phase 1, Phase 2
47 Gastrointestinal Agents Phase 1, Phase 2
48 glucocorticoids Phase 1, Phase 2
49 Hormone Antagonists Phase 1, Phase 2
50 Hormones 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 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
6 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
7 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
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 Not Applicable Reduced Toxicity Ablative Regimen;Reduced Intensity Preparative Regimen;Myeloablative Preparative Regimen
14 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation Terminated NCT01319851 Not Applicable Alefacept

Search NIH Clinical Center for Shwachman-Diamond Syndrome 1

Cochrane evidence based reviews: shwachman syndrome

Genetic Tests for Shwachman-Diamond Syndrome 1

Genetic tests related to Shwachman-Diamond Syndrome 1:

# Genetic test Affiliating Genes
1 Shwachman Syndrome 29 SBDS

Anatomical Context for Shwachman-Diamond Syndrome 1

MalaCards organs/tissues related to Shwachman-Diamond Syndrome 1:

41
Bone, Bone Marrow, Pancreas, Myeloid, Liver, Brain, Neutrophil

Publications for Shwachman-Diamond Syndrome 1

Articles related to Shwachman-Diamond Syndrome 1:

(show top 50) (show all 215)
# Title Authors Year
1
Association of isochromosome (7)(q10) in Shwachman-Diamond syndrome with the severity of cytopenia. ( 29375851 )
2018
2
Liver transplantation for very severe hepatopulmonary syndrome due to vitamin A-induced chronic liver disease in a patient with Shwachman-Diamond syndrome. ( 29716638 )
2018
3
Shwachman-Diamond Syndrome Protein SBDS Maintains Human Telomeres by Regulating Telomerase Recruitment. ( 29444436 )
2018
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
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
6
The Greek Registry of Shwachman Diamond-Syndrome: Molecular and clinical data. ( 28509441 )
2017
7
Multiple and Bilateral Cilioretinal Arteries with Shwachman-Diamond Syndrome. ( 28823349 )
2017
8
Dysplastic neutrophils in the bone marrow of a Shwachman-Diamond syndrome patient. ( 28684451 )
2017
9
Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome. ( 28062395 )
2017
10
Novel recurrent chromosome anomalies in Shwachman-Diamond syndrome. ( 28130858 )
2017
11
Ataluren-driven restoration of Shwachman-Bodian-Diamond syndrome protein function in Shwachman-Diamond syndrome bone marrow cells. ( 29285795 )
2017
12
Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome. ( 28942353 )
2017
13
A unique case of Shwachman-Diamond syndrome presenting with congenital hypopituitarism. ( 27754968 )
2016
14
New insights into the Shwachman-Diamond Syndrome-related haematological disorder: hyper-activation of mTOR and STAT3 in leukocytes. ( 27658964 )
2016
15
Shwachman-Diamond syndrome presenting with early ichthyosis, associated dermal and epidermal intracellular lipid droplets, hypoglycemia, and later distinctive clinical SDS phenotype. ( 27127007 )
2016
16
Structural dynamics of the yeast Shwachman-Diamond syndrome protein (Sdo1) on the ribosome and its implication in the 60S subunit maturation. ( 26850260 )
2016
17
Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome. ( 27146429 )
2016
18
Novel myopathy in a newborn with Shwachman-Diamond syndrome and review of neonatal presentation. ( 26866830 )
2016
19
Thoracic Hypoplasia at Birth as Presenting Feature of Shwachman-Diamond Syndrome in Twins. ( 27617157 )
2016
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
Cytogenetic monitoring in shwachman-diamond syndrome: a note on clonal progression and a practical warning. ( 25887640 )
2015
23
A novel mouse model provides insights into the neutropenia associated with the ribosomopathy Shwachman-Diamond syndrome. ( 26432381 )
2015
24
RADIOSENSITIVITY IN LYMPHOBLASTOID CELL LINES DERIVED FROM SHWACHMAN-DIAMOND SYNDROME PATIENTS. ( 25870433 )
2015
25
Shwachman-Diamond syndrome (SDS) in a preterm neonate. ( 26081292 )
2015
26
Diffuse alterations in grey and white matter associated with cognitive impairment in Shwachman-Diamond syndrome: evidence from a multimodal approach. ( 25844324 )
2015
27
Deletion of Mitochondrial Porin Alleviates Stress Sensitivity in the Yeast Model of Shwachman-Diamond Syndrome. ( 26743985 )
2015
28
Defective Guanine Nucleotide Exchange in the Elongation Factor-like 1 (EFL1) GTPase by Mutations in the Shwachman-Diamond Syndrome Protein. ( 25991726 )
2015
29
Nutritional status in children with shwachman-diamond syndrome. ( 25742431 )
2015
30
CNS lymphoma in a patient with Shwachman Diamond syndrome. ( 24307640 )
2014
31
Young-age-onset pancreatoduodenal carcinoma in Shwachman-Diamond syndrome. ( 24629175 )
2014
32
Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome. ( 24898207 )
2014
33
[Shwachman-Diamond syndrome]. ( 24772512 )
2014
34
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
35
Shwachman-Diamond syndrome with autoimmune-like liver disease and enteropathy mimicking celiac disease. ( 25129842 )
2014
36
Endocrine evaluation of children with and without Shwachman-Bodian-Diamond syndrome gene mutations and Shwachman-Diamond syndrome. ( 23305959 )
2013
37
Early spontaneous recovery of exocrine pancreatic insufficiency in a 3-year-old child with Shwachman-Diamond syndrome. ( 24052373 )
2013
38
Shwachman-Diamond syndrome: first molecular diagnosis in a Brazilian child. ( 24106450 )
2013
39
Mitochondrial function is impaired in yeast and human cellular models of Shwachman Diamond syndrome. ( 23792098 )
2013
40
Proteolytic autodigestion: common tissue pathology in Shwachman-Diamond syndrome? ( 24107623 )
2013
41
Atrioventricular septal defect in a case of Shwachman-Diamond syndrome. ( 23803361 )
2013
42
Cardiomyopathies and congenital heart diseases in Shwachman-Diamond syndrome: a national survey. ( 23164595 )
2013
43
Impaired growth, hematopoietic colony formation, and ribosome maturation in human cells depleted of Shwachman-Diamond syndrome protein SBDS. ( 22997148 )
2013
44
Molecular characteristics of a pancreatic adenocarcinoma associated with Shwachman-Diamond syndrome. ( 23303473 )
2013
45
Variable Clinical Presentation of Shwachman-Diamond Syndrome: Update from the North American Shwachman-Diamond Syndrome Registry. ( 24388329 )
2013
46
Bispectral index monitoring in a patient with combination of congenital insensitivity to pain with anhidrosis (CIPA) and Shwachman-Diamond syndrome. ( 23828451 )
2013
47
Clinical and molecular pathophysiology of Shwachman-Diamond syndrome: an update. ( 23351992 )
2013
48
Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome. ( 23315050 )
2013
49
Pluripotent stem cell models of Shwachman-Diamond syndrome reveal a common mechanism for pancreatic and hematopoietic dysfunction. ( 23602541 )
2013
50
Molecular diagnosis of shwachman-diamond syndrome presenting with pancytopenia at an early age: the first report from Turkey. ( 24426364 )
2013

Variations for Shwachman-Diamond Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Shwachman-Diamond Syndrome 1:

75
# Symbol AA change Variation ID SNP ID
1 SBDS p.Arg126Thr VAR_015394 rs113993995
2 SBDS p.Lys33Thr VAR_071673 rs373730800

ClinVar genetic disease variations for Shwachman-Diamond Syndrome 1:

6
(show all 29)
# 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_016038.2(SBDS): c.183_184delTAinsCT (p.Lys62Ter) indel Pathogenic rs113993991 GRCh38 Chromosome 7, 66994286: 66994287
3 SBDS NM_016038.3(SBDS): c.258+2T> C single nucleotide variant Pathogenic rs113993993 GRCh37 Chromosome 7, 66459197: 66459197
4 SBDS NM_016038.3(SBDS): c.258+2T> C single nucleotide variant Pathogenic rs113993993 GRCh38 Chromosome 7, 66994210: 66994210
5 SBDS NM_016038.3(SBDS): c.24C> A (p.Asn8Lys) single nucleotide variant Pathogenic rs28942099 GRCh37 Chromosome 7, 66460381: 66460381
6 SBDS NM_016038.3(SBDS): c.24C> A (p.Asn8Lys) single nucleotide variant Pathogenic rs28942099 GRCh38 Chromosome 7, 66995394: 66995394
7 SBDS SBDS, 1-BP INS, 96A insertion Pathogenic
8 SBDS NM_016038.3(SBDS): c.258+1G> C single nucleotide variant Pathogenic rs113993992 GRCh37 Chromosome 7, 66459198: 66459198
9 SBDS NM_016038.3(SBDS): c.258+1G> C single nucleotide variant Pathogenic rs113993992 GRCh38 Chromosome 7, 66994211: 66994211
10 SBDS NM_016038.3(SBDS): c.297_300delAAGA (p.Glu99Aspfs) deletion Pathogenic rs113993994 GRCh37 Chromosome 7, 66458363: 66458366
11 SBDS NM_016038.3(SBDS): c.297_300delAAGA (p.Glu99Aspfs) deletion Pathogenic rs113993994 GRCh38 Chromosome 7, 66993376: 66993379
12 SBDS NM_016038.3(SBDS): c.377G> C (p.Arg126Thr) single nucleotide variant Pathogenic rs113993995 GRCh37 Chromosome 7, 66458286: 66458286
13 SBDS NM_016038.3(SBDS): c.377G> C (p.Arg126Thr) single nucleotide variant Pathogenic rs113993995 GRCh38 Chromosome 7, 66993299: 66993299
14 SBDS NM_016038.3(SBDS): c.505C> T (p.Arg169Cys) single nucleotide variant Pathogenic rs113993996 GRCh37 Chromosome 7, 66456243: 66456243
15 SBDS NM_016038.3(SBDS): c.505C> T (p.Arg169Cys) single nucleotide variant Pathogenic rs113993996 GRCh38 Chromosome 7, 66991256: 66991256
16 SBDS NM_016038.3(SBDS): c.624+1G> C single nucleotide variant Pathogenic rs113993997 GRCh37 Chromosome 7, 66456123: 66456123
17 SBDS NM_016038.3(SBDS): c.624+1G> C single nucleotide variant Pathogenic rs113993997 GRCh38 Chromosome 7, 66991136: 66991136
18 SBDS NM_016038.3(SBDS): c.652C> T (p.Arg218Ter) single nucleotide variant Pathogenic rs113993998 GRCh37 Chromosome 7, 66453459: 66453459
19 SBDS NM_016038.3(SBDS): c.652C> T (p.Arg218Ter) single nucleotide variant Pathogenic rs113993998 GRCh38 Chromosome 7, 66988472: 66988472
20 SBDS NM_016038.3(SBDS): c.98A> C (p.Lys33Thr) single nucleotide variant Pathogenic rs373730800 GRCh37 Chromosome 7, 66460307: 66460307
21 SBDS NM_016038.3(SBDS): c.98A> C (p.Lys33Thr) single nucleotide variant Pathogenic rs373730800 GRCh38 Chromosome 7, 66995320: 66995320
22 SBDS NM_016038.3(SBDS): c.120delG (p.Ser41Alafs) deletion Pathogenic rs113993990 GRCh37 Chromosome 7, 66460285: 66460285
23 SBDS NM_016038.3(SBDS): c.120delG (p.Ser41Alafs) deletion Pathogenic rs113993990 GRCh38 Chromosome 7, 66995298: 66995298
24 SRP54 NM_003136.3(SRP54): c.343A> G (p.Thr115Ala) single nucleotide variant Pathogenic GRCh37 Chromosome 14, 35476576: 35476576
25 SRP54 NM_003136.3(SRP54): c.343A> G (p.Thr115Ala) single nucleotide variant Pathogenic GRCh38 Chromosome 14, 35007370: 35007370
26 SRP54 NM_003136.3(SRP54): c.349_351delACA (p.Thr117del) deletion Pathogenic GRCh38 Chromosome 14, 35007376: 35007378
27 SRP54 NM_003136.3(SRP54): c.349_351delACA (p.Thr117del) deletion Pathogenic GRCh37 Chromosome 14, 35476582: 35476584
28 SRP54 NM_003136.3(SRP54): c.677G> A (p.Gly226Glu) single nucleotide variant Pathogenic GRCh38 Chromosome 14, 35013386: 35013386
29 SRP54 NM_003136.3(SRP54): c.677G> A (p.Gly226Glu) single nucleotide variant Pathogenic GRCh37 Chromosome 14, 35482592: 35482592

Copy number variations for Shwachman-Diamond Syndrome 1 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 1

Search GEO for disease gene expression data for Shwachman-Diamond Syndrome 1.

Pathways for Shwachman-Diamond Syndrome 1

Pathways related to Shwachman-Diamond Syndrome 1 according to KEGG:

37
# Name Kegg Source Accession
1 Ribosome biogenesis in eukaryotes hsa03008

Pathways related to Shwachman-Diamond Syndrome 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.42 AGO2 EIF6 RPL5
2 10.95 DKC1 EFL1 EIF6 SBDS

GO Terms for Shwachman-Diamond Syndrome 1

Cellular components related to Shwachman-Diamond Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleolus GO:0005730 9.28 DKC1 DNAJC21 EIF6 L3MBTL1 NIP7 RPL5
2 ribosome GO:0005840 9.26 DNAJC21 RPL5 RPS14 RPS27L
3 preribosome, large subunit precursor GO:0030687 9.16 EIF6 NIP7

Biological processes related to Shwachman-Diamond Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 rRNA processing GO:0006364 9.67 DKC1 RPL5 RPS14 SBDS
2 translation GO:0006412 9.63 AGO2 EFL1 EIF6 RPL5 RPS14 RPS27L
3 SRP-dependent cotranslational protein targeting to membrane GO:0006614 9.58 RPL5 RPS14 SRP54
4 translational initiation GO:0006413 9.56 AGO2 EIF6 RPL5 RPS14
5 positive regulation of translation GO:0045727 9.5 EIF6 RPL5 RPS27L
6 ribosomal large subunit biogenesis GO:0042273 9.46 NIP7 RPL5
7 ribosomal small subunit assembly GO:0000028 9.43 RPS14 RPS27L
8 mature ribosome assembly GO:0042256 9.13 EFL1 EIF6 SBDS
9 ribosome biogenesis GO:0042254 9.02 DKC1 EFL1 EIF6 NIP7 SBDS

Molecular functions related to Shwachman-Diamond Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of ribosome GO:0003735 9.43 RPL5 RPS14 RPS27L
2 RNA binding GO:0003723 9.28 AGO2 DKC1 DNAJC21 NIP7 RPL5 RPS14
3 mRNA 5-UTR binding GO:0048027 9.16 RPL5 RPS14
4 ribosome binding GO:0043022 9.13 EFL1 EIF6 SBDS
5 protein binding GO:0005515 10.2 AGO2 DKC1 DNAJC21 EIF6 ELANE L3MBTL1

Sources for Shwachman-Diamond Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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