SDS1
MCID: SHW006
MIFTS: 63

Shwachman-Diamond Syndrome 1 (SDS1)

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

Aliases & Classifications for Shwachman-Diamond Syndrome 1

MalaCards integrated aliases for Shwachman-Diamond Syndrome 1:

Name: Shwachman-Diamond Syndrome 1 58 76 39
Shwachman-Diamond Syndrome 58 39 12 25 54 26 60 38 56 15
Shwachman Syndrome 12 77 26 60 30 6 45 41 74
Shwachman-Bodian-Diamond Syndrome 12 77 25 26 60 13
Pancreatic Insufficiency and Bone Marrow Dysfunction 58 12 54 60
Sds 58 54 26 60
Shwachman-Bodian Syndrome 58 54 26
Lipomatosis of Pancreas, Congenital 58 54
Congenital Lipomatosis of Pancreas 54 26
Sds1 58 76
Metaphyseal Chondrodysplasia, Shwachman Type 26
Shwachman-Diamond Syndrome; Sds 58
Shwachman-Diamond-Oski Syndrome 26

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
autosomal recessive

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


HPO:

33
shwachman-diamond syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Shwachman-Diamond Syndrome 1

UniProtKB/Swiss-Prot : 76 Shwachman-Diamond syndrome 1: A form of Shwachman-Diamond syndrome, a disorder characterized by hematopoietic abnormalities, exocrine pancreatic dysfunction, and skeletal dysplasia. Intermittent or chronic neutropenia is the most common hematological manifestation, followed by anemia and thrombocytopenia. Some patients progress to bone marrow failure, myelodysplastic syndrome and malignant transformation, with acute myelogenous leukemia being the most common. Exocrine pancreatic dysfunction is generally the first presenting symptom in infancy. Short stature and metaphyseal dysplasia are the most frequent skeletal manifestations. SDS1 inheritance is autosomal recessive.

MalaCards based summary : Shwachman-Diamond Syndrome 1, also known as shwachman-diamond syndrome, is related to inherited bone marrow failure syndromes and neutropenia. 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 Fludarabine and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and pancreas, and related phenotypes are exocrine pancreatic insufficiency and neutropenia

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

Genetics Home Reference : 26 Shwachman-Diamond syndrome is an inherited condition that affects many parts of the body, particularly the bone marrow, pancreas, and skeletal system.

NIH Rare Diseases : 54 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.

OMIM : 58 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)

Wikipedia : 77 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 324)
# Related Disease Score Top Affiliating Genes
1 inherited bone marrow failure syndromes 30.6 DNAJC21 SBDS
2 neutropenia 30.4 CSF3R ELANE SBDS
3 aplastic anemia 30.1 CSF3R DKC1 GATA2 RPL5 SBDS
4 myelodysplastic syndrome 29.9 CSF3R GATA2 RPS14 SBDS
5 salla disease 12.2
6 exocrine pancreatic insufficiency 11.8
7 semantic dementia 11.6
8 trichohepatoenteric syndrome 1 11.3
9 short stature, idiopathic, x-linked 11.3
10 deafness, autosomal dominant 69 11.2
11 bone marrow failure syndrome 3 11.1
12 shwachman-diamond syndrome 2 11.1
13 microcephaly 1, primary, autosomal recessive 11.1
14 desbuquois dysplasia 1 11.1
15 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 11.1
16 macrocephaly/autism syndrome 11.1
17 multiple system atrophy 1 11.1
18 sandhoff disease 11.1
19 sickle cell - hemoglobin d disease 11.1
20 microcephaly, autosomal dominant 11.0
21 isolated growth hormone deficiency, type ia 11.0
22 mental retardation and microcephaly with pontine and cerebellar hypoplasia 11.0
23 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 11.0
24 microcephaly 5, primary, autosomal recessive 11.0
25 isolated growth hormone deficiency, type ib 11.0
26 lissencephaly 4 11.0
27 microcephaly 10, primary, autosomal recessive 11.0
28 desbuquois dysplasia 2 11.0
29 acid-labile subunit deficiency 11.0
30 nanophthalmos 4 11.0
31 macular dystrophy, vitelliform, 4 11.0
32 macular dystrophy, vitelliform, 5 11.0
33 short stature with nonspecific skeletal abnormalities 11.0
34 microcephaly 17, primary, autosomal recessive 11.0
35 leukodystrophy, hypomyelinating, 17 11.0
36 isolated growth hormone deficiency, type iv 11.0
37 hematopoietic stem cell transplantation 10.4
38 leukemia 10.4
39 liver disease 10.4
40 osteoporosis 10.3
41 celiac disease 1 10.3
42 cystic fibrosis 10.3
43 diabetes mellitus 10.3
44 diamond-blackfan anemia 10.3
45 asphyxiating thoracic dystrophy 10.3
46 lymphoma 10.3
47 pancytopenia 10.3
48 hypoglycemia 10.3
49 gallbladder cancer 10.3
50 depression 10.2

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

Human phenotypes related to Shwachman-Diamond Syndrome 1:

60 33 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 exocrine pancreatic insufficiency 60 33 hallmark (90%) Very frequent (99-80%) HP:0001738
2 neutropenia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001875
3 generalized hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001290
4 osteopenia 60 33 frequent (33%) Frequent (79-30%) HP:0000938
5 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
6 failure to thrive 60 33 frequent (33%) Frequent (79-30%) HP:0001508
7 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
8 delayed skeletal maturation 60 33 frequent (33%) Frequent (79-30%) HP:0002750
9 malabsorption 60 33 frequent (33%) Frequent (79-30%) HP:0002024
10 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
11 ichthyosis 60 33 frequent (33%) Frequent (79-30%) HP:0008064
12 anemia 60 33 frequent (33%) Frequent (79-30%) HP:0001903
13 abnormality of the metaphysis 60 33 frequent (33%) Frequent (79-30%) HP:0000944
14 thrombocytopenia 60 33 frequent (33%) Frequent (79-30%) HP:0001873
15 recurrent infections 60 33 frequent (33%) Frequent (79-30%) HP:0002719
16 eczema 60 33 frequent (33%) Frequent (79-30%) HP:0000964
17 gait disturbance 60 33 occasional (7.5%) Occasional (29-5%) HP:0001288
18 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
19 hepatomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0002240
20 carious teeth 60 33 occasional (7.5%) Occasional (29-5%) HP:0000670
21 pectus carinatum 60 33 occasional (7.5%) Occasional (29-5%) HP:0000768
22 type i diabetes mellitus 60 33 occasional (7.5%) Occasional (29-5%) HP:0100651
23 bone marrow hypocellularity 60 33 occasional (7.5%) Occasional (29-5%) HP:0005528
24 aplastic anemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001915
25 myelodysplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002863
26 acute myeloid leukemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0004808
27 short thorax 60 33 occasional (7.5%) Occasional (29-5%) HP:0010306
28 microdontia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000691
29 recurrent aphthous stomatitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0011107
30 proximal femoral metaphyseal irregularity 33 very rare (1%) HP:0003411
31 anterior rib cupping 33 very rare (1%) HP:0000907
32 intellectual disability, mild 33 HP:0001256
33 pancytopenia 33 HP:0001876
34 ovoid vertebral bodies 33 HP:0003300
35 narrow chest 33 HP:0000774
36 growth delay 60 Frequent (79-30%)
37 specific learning disability 33 HP:0001328
38 elevated hepatic transaminase 33 HP:0002910
39 neonatal respiratory distress 33 HP:0002643
40 metaphyseal chondrodysplasia 33 HP:0005871
41 persistence of hemoglobin f 33 HP:0011904
42 nephrocalcinosis 33 HP:0000121
43 narrow sacroiliac notch 33 HP:0008803
44 coxa vara 33 HP:0002812
45 leukemia 60 Occasional (29-5%)
46 steatorrhea 33 HP:0002570
47 small for gestational age 33 HP:0001518
48 metaphyseal widening 33 HP:0003016
49 metaphyseal sclerosis 33 HP:0004979
50 proximal femoral epiphysiolysis 33 HP:0006461

Symptoms via clinical synopsis from OMIM:

58
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

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

27 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.55 RPL5
2 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.55 RPS14
3 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.55 L3MBTL1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.55 L3MBTL1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.55 L3MBTL1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.55 L3MBTL1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.55 L3MBTL1 RPL5 RPS14
8 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.55 L3MBTL1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.55 RPL5
10 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.55 RPL5
11 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.55 RPS14
12 Increased shRNA abundance (Z-score > 2) GR00366-A-39 9.55 RPL5
13 Increased shRNA abundance (Z-score > 2) GR00366-A-78 9.55 L3MBTL1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.55 L3MBTL1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.55 L3MBTL1

MGI Mouse Phenotypes related to Shwachman-Diamond Syndrome 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.81 AGO2 CSF3R DKC1 EIF6 GATA2 L3MBTL1
2 hematopoietic system MP:0005397 9.61 AGO2 CSF3R DKC1 ELANE GATA2 L3MBTL1
3 mortality/aging MP:0010768 9.4 AGO2 CSF3R 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 72)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fludarabine Approved Phase 2, Phase 3,Phase 3,Phase 1,Early Phase 1,Not Applicable 75607-67-9, 21679-14-1 30751
2
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1,Early Phase 1,Not Applicable 55-98-1 2478
3
Vidarabine Approved, Investigational Phase 2, Phase 3,Phase 3 24356-66-9 21704 32326
4
Lenograstim Approved, Investigational Phase 2, Phase 3 135968-09-1
5
Sargramostim Approved, Investigational Phase 2, Phase 3 123774-72-1, 83869-56-1
6
alemtuzumab Approved, Investigational Phase 2, Phase 3,Phase 1,Early Phase 1,Not Applicable 216503-57-0
7
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 1,Not Applicable 50-18-0, 6055-19-2 2907
8 Immunosuppressive Agents Phase 2, Phase 3,Phase 3,Phase 1
9 Antiviral Agents Phase 2, Phase 3,Phase 3
10 Alkylating Agents Phase 2, Phase 3,Phase 3,Phase 1
11 Immunologic Factors Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
12 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Phase 3,Phase 1
13 Antilymphocyte Serum Phase 2, Phase 3,Phase 3,Not Applicable
14 Anti-Infective Agents Phase 2, Phase 3,Phase 3
15 Antimetabolites Phase 2, Phase 3,Phase 3,Phase 1
16 Antimetabolites, Antineoplastic Phase 2, Phase 3,Phase 3,Phase 1
17 Adjuvants, Immunologic Phase 2, Phase 3
18 Antineoplastic Agents, Immunological Phase 2, Phase 3,Phase 1
19 Antirheumatic Agents Phase 2, Phase 3,Phase 1
20
Tacrolimus Approved, Investigational Phase 2,Phase 1 104987-11-3 6473866 445643 439492
21
leucovorin Approved Phase 2 58-05-9 143 6006
22
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
23
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
24
Mycophenolic acid Approved Phase 2,Phase 1 24280-93-1 446541
25
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5
26
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
27
Melphalan Approved Phase 1, Phase 2,Phase 2,Early Phase 1 148-82-3 460612 4053
28
Thiotepa Approved, Investigational Phase 1, Phase 2 52-24-4 5453
29
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 46835353 5284616 6436030
30
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
31
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
32
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
33
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
34
Emodepside Investigational, Vet_approved Phase 2 155030-63-0
35
Treosulfan Investigational Phase 2 299-75-2 9296
36
Prednisolone hemisuccinate Experimental Phase 1, Phase 2 2920-86-7
37 Vidarabine Phosphate Phase 2
38 Cyclosporins Phase 2,Phase 1
39 Vitamin B Complex Phase 2
40 Vitamin B9 Phase 2
41 Antibiotics, Antitubercular Phase 2
42 Folic Acid Antagonists Phase 2
43 Dermatologic Agents Phase 2,Not Applicable
44 Anti-Bacterial Agents Phase 2
45 Antitubercular Agents Phase 2
46 Nucleic Acid Synthesis Inhibitors Phase 2
47 Calcineurin Inhibitors Phase 2,Phase 1
48 Folate Phase 2
49 Thymoglobulin Phase 2
50 Antifungal Agents 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 Active, not recruiting NCT01917708 Phase 1 Abatacept
9 Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant Diseases Active, not recruiting 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

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Shwachman-Diamond Syndrome 1 cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Shwachman-Diamond Syndrome 1:
ALD-151, umbilical cord blood cells for hematologic and immunodefeciency diseases
Embryonic/Adult Cultured Cells Related to Shwachman-Diamond Syndrome 1:
Umbilical cord blood ALDH+ cells (ALD-151) PMIDs: 10430905

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 30 DNAJC21 SBDS SRP54

Anatomical Context for Shwachman-Diamond Syndrome 1

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

42
Bone, Bone Marrow, Pancreas, Myeloid, Liver, T Cells, Brain

Publications for Shwachman-Diamond Syndrome 1

Articles related to Shwachman-Diamond Syndrome 1:

(show top 50) (show all 234)
# Title Authors Year
1
Successful tracheal intubation using videolaryngoscope in Shwachman-Diamond syndrome patient combined with congenital epidermolysis bullosa. ( 30684918 )
2019
2
Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman-Diamond Syndrome carrying biallelic SBDS mutations. ( 30198570 )
2019
3
Shwachman-Diamond Syndrome: Molecular Mechanisms and Current Perspectives. ( 30413969 )
2019
4
Genetics for understanding the clinical features of Shwachman-Diamond Syndrome. ( 30575022 )
2019
5
Peripheral blood immunophenotyping in a large cohort of patients with Shwachman-Diamond syndrome. ( 30604473 )
2019
6
Cooperative energetic effects elicited by the yeast Shwachman-Diamond syndrome protein (Sdo1) and guanine nucleotides modulate the complex conformational landscape of the elongation factor-like 1 (Efl1) GTPase. ( 30780079 )
2019
7
Normative growth charts for Shwachman-Diamond syndrome from Italian cohort of 0-8 years old. ( 30782681 )
2019
8
Decreased accumulation of superoxide dismutase 2 within mitochondria in the yeast model of Shwachman-Diamond syndrome. ( 30938873 )
2019
9
Liver transplantation for very severe hepatopulmonary syndrome due to vitamin A-induced chronic liver disease in a patient with Shwachman-Diamond syndrome. ( 29716638 )
2018
10
A Case of Shwachman-Diamond Syndrome who Presented with Hypotonia. ( 30105119 )
2018
11
Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome. ( 28942353 )
2018
12
Ataluren-driven restoration of Shwachman-Bodian-Diamond syndrome protein function in Shwachman-Diamond syndrome bone marrow cells. ( 29285795 )
2018
13
Association of isochromosome (7)(q10) in Shwachman-Diamond syndrome with the severity of cytopenia. ( 29375851 )
2018
14
Shwachman-Diamond Syndrome Protein SBDS Maintains Human Telomeres by Regulating Telomerase Recruitment. ( 29444436 )
2018
15
Mesenchymal stromal cells from Shwachman-Diamond syndrome patients fail to recreate a bone marrow niche in vivo and exhibit impaired angiogenesis. ( 29767474 )
2018
16
Shwachman-Diamond syndrome: Nationwide survey and systematic review in Japan. ( 29804317 )
2018
17
Delayed diagnosis of Shwachman diamond syndrome with short telomeres and a review of cases in Asia. ( 29892551 )
2018
18
Diagnosis, Treatment, and Molecular Pathology of Shwachman-Diamond Syndrome. ( 30047420 )
2018
19
Shwachman-Diamond syndrome: a case report. ( 30078780 )
2018
20
Can treatment of malabsorption in Shwachman-Diamond syndrome improve prognosis? ( 30160037 )
2018
21
Interaction of the GTPase Elongation Factor Like-1 with the Shwachman-Diamond Syndrome Protein and Its Missense Mutations. ( 30545121 )
2018
22
Shwachman-Diamond syndrome with clonal interstitial deletion of the long arm of chromosome 20 in bone marrow: haematological features, prognosis and genomic instability. ( 30585299 )
2018
23
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
24
Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome. ( 28062395 )
2017
25
Novel recurrent chromosome anomalies in Shwachman-Diamond syndrome. ( 28130858 )
2017
26
The Greek Registry of Shwachman Diamond-Syndrome: Molecular and clinical data. ( 28509441 )
2017
27
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
28
Dysplastic neutrophils in the bone marrow of a Shwachman-Diamond syndrome patient. ( 28684451 )
2017
29
Multiple and Bilateral Cilioretinal Arteries with Shwachman-Diamond Syndrome. ( 28823349 )
2017
30
Shwachman-Diamond syndrome presenting with early ichthyosis, associated dermal and epidermal intracellular lipid droplets, hypoglycemia, and later distinctive clinical SDS phenotype. ( 27127007 )
2016
31
A unique case of Shwachman-Diamond syndrome presenting with congenital hypopituitarism. ( 27754968 )
2016
32
Novel myopathy in a newborn with Shwachman-Diamond syndrome and review of neonatal presentation. ( 26866830 )
2016
33
Structural dynamics of the yeast Shwachman-Diamond syndrome protein (Sdo1) on the ribosome and its implication in the 60S subunit maturation. ( 26850260 )
2016
34
Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome. ( 27146429 )
2016
35
Thoracic Hypoplasia at Birth as Presenting Feature of Shwachman-Diamond Syndrome in Twins. ( 27617157 )
2016
36
New insights into the Shwachman-Diamond Syndrome-related haematological disorder: hyper-activation of mTOR and STAT3 in leukocytes. ( 27658964 )
2016
37
A novel mouse model provides insights into the neutropenia associated with the ribosomopathy Shwachman-Diamond syndrome. ( 26432381 )
2015
38
Shwachman-Diamond syndrome with autoimmune-like liver disease and enteropathy mimicking celiac disease. ( 25129842 )
2015
39
Two cases of Shwachman-Diamond syndrome in adolescents confirmed by genetic analysis. ( 25729736 )
2015
40
Abnormal circumferential strain measured by echocardiography is present in patients with Shwachman-Diamond syndrome despite normal shortening fraction. ( 25732529 )
2015
41
Nutritional status in children with Shwachman-diamond syndrome. ( 25742431 )
2015
42
Diffuse alterations in grey and white matter associated with cognitive impairment in Shwachman-Diamond syndrome: evidence from a multimodal approach. ( 25844324 )
2015
43
Radiosensitivity in lymphoblastoid cell lines derived from Shwachman-Diamond syndrome patients. ( 25870433 )
2015
44
Cytogenetic monitoring in Shwachman-Diamond syndrome: a note on clonal progression and a practical warning. ( 25887640 )
2015
45
Defective Guanine Nucleotide Exchange in the Elongation Factor-like 1 (EFL1) GTPase by Mutations in the Shwachman-Diamond Syndrome Protein. ( 25991726 )
2015
46
Shwachman-Diamond syndrome (SDS) in a preterm neonate. ( 26081292 )
2015
47
Deletion of Mitochondrial Porin Alleviates Stress Sensitivity in the Yeast Model of Shwachman-Diamond Syndrome. ( 26743985 )
2015
48
Bispectral index monitoring in a patient with combination of congenital insensitivity to pain with anhidrosis (CIPA) and Shwachman-Diamond syndrome. ( 23828451 )
2014
49
Atrioventricular septal defect in a case of Shwachman-Diamond syndrome. ( 23803361 )
2014
50
Early spontaneous recovery of exocrine pancreatic insufficiency in a 3-year-old child with Shwachman-Diamond syndrome. ( 24052373 )
2014

Variations for Shwachman-Diamond Syndrome 1

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

76
# 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 43)
# 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_016038.2(SBDS): c.258+2T> C single nucleotide variant Pathogenic rs113993993 GRCh37 Chromosome 7, 66459197: 66459197
4 SBDS NM_016038.2(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 Uncertain significance rs28942099 GRCh37 Chromosome 7, 66460381: 66460381
6 SBDS NM_016038.3(SBDS): c.24C> A (p.Asn8Lys) single nucleotide variant Uncertain significance rs28942099 GRCh38 Chromosome 7, 66995394: 66995394
7 SBDS SBDS, 1-BP INS, 96A insertion Pathogenic
8 SBDS NM_016038.3(SBDS): c.624+1G> C single nucleotide variant Pathogenic rs113993997 GRCh37 Chromosome 7, 66456123: 66456123
9 SBDS NM_016038.3(SBDS): c.141C> T (p.Leu47=) single nucleotide variant Benign rs113993989 GRCh37 Chromosome 7, 66459316: 66459316
10 SBDS NM_016038.3(SBDS): c.141C> T (p.Leu47=) single nucleotide variant Benign rs113993989 GRCh38 Chromosome 7, 66994329: 66994329
11 SBDS NM_016038.3(SBDS): c.201A> G (p.Lys67=) single nucleotide variant Benign rs1061695 GRCh37 Chromosome 7, 66459256: 66459256
12 SBDS NM_016038.3(SBDS): c.201A> G (p.Lys67=) single nucleotide variant Benign rs1061695 GRCh38 Chromosome 7, 66994269: 66994269
13 SBDS NM_016038.2(SBDS): c.258+1G> C single nucleotide variant Pathogenic rs113993992 GRCh37 Chromosome 7, 66459198: 66459198
14 SBDS NM_016038.2(SBDS): c.258+1G> C single nucleotide variant Pathogenic rs113993992 GRCh38 Chromosome 7, 66994211: 66994211
15 SBDS NM_016038.3(SBDS): c.297_300delAAGA (p.Glu99Aspfs) deletion Pathogenic rs113993994 GRCh37 Chromosome 7, 66458363: 66458366
16 SBDS NM_016038.3(SBDS): c.297_300delAAGA (p.Glu99Aspfs) deletion Pathogenic rs113993994 GRCh38 Chromosome 7, 66993376: 66993379
17 SBDS NM_016038.3(SBDS): c.377G> C (p.Arg126Thr) single nucleotide variant Pathogenic rs113993995 GRCh37 Chromosome 7, 66458286: 66458286
18 SBDS NM_016038.3(SBDS): c.377G> C (p.Arg126Thr) single nucleotide variant Pathogenic rs113993995 GRCh38 Chromosome 7, 66993299: 66993299
19 SBDS NM_016038.3(SBDS): c.505C> T (p.Arg169Cys) single nucleotide variant Uncertain significance rs113993996 GRCh37 Chromosome 7, 66456243: 66456243
20 SBDS NM_016038.3(SBDS): c.505C> T (p.Arg169Cys) single nucleotide variant Uncertain significance rs113993996 GRCh38 Chromosome 7, 66991256: 66991256
21 SBDS NM_016038.3(SBDS): c.624+1G> C single nucleotide variant Pathogenic rs113993997 GRCh38 Chromosome 7, 66991136: 66991136
22 SBDS NM_016038.3(SBDS): c.635T> C (p.Ile212Thr) single nucleotide variant Benign/Likely benign rs79344818 GRCh37 Chromosome 7, 66453476: 66453476
23 SBDS NM_016038.3(SBDS): c.635T> C (p.Ile212Thr) single nucleotide variant Benign/Likely benign rs79344818 GRCh38 Chromosome 7, 66988489: 66988489
24 SBDS NM_016038.3(SBDS): c.651C> T (p.Phe217=) single nucleotide variant Benign rs73151675 GRCh37 Chromosome 7, 66453460: 66453460
25 SBDS NM_016038.3(SBDS): c.651C> T (p.Phe217=) single nucleotide variant Benign rs73151675 GRCh38 Chromosome 7, 66988473: 66988473
26 SBDS NM_016038.3(SBDS): c.652C> T (p.Arg218Ter) single nucleotide variant Pathogenic rs113993998 GRCh37 Chromosome 7, 66453459: 66453459
27 SBDS NM_016038.3(SBDS): c.652C> T (p.Arg218Ter) single nucleotide variant Pathogenic rs113993998 GRCh38 Chromosome 7, 66988472: 66988472
28 SBDS NM_016038.3(SBDS): c.98A> C (p.Lys33Thr) single nucleotide variant Pathogenic rs373730800 GRCh37 Chromosome 7, 66460307: 66460307
29 SBDS NM_016038.3(SBDS): c.98A> C (p.Lys33Thr) single nucleotide variant Pathogenic rs373730800 GRCh38 Chromosome 7, 66995320: 66995320
30 SBDS NM_016038.3(SBDS): c.120del (p.Ser41Alafs) deletion Pathogenic rs113993990 GRCh37 Chromosome 7, 66460285: 66460285
31 SBDS NM_016038.3(SBDS): c.120del (p.Ser41Alafs) deletion Pathogenic rs113993990 GRCh38 Chromosome 7, 66995298: 66995298
32 SRP54 NM_003136.3(SRP54): c.343A> G (p.Thr115Ala) single nucleotide variant Pathogenic rs1555354200 GRCh37 Chromosome 14, 35476576: 35476576
33 SRP54 NM_003136.3(SRP54): c.343A> G (p.Thr115Ala) single nucleotide variant Pathogenic rs1555354200 GRCh38 Chromosome 14, 35007370: 35007370
34 SRP54 NM_003136.3(SRP54): c.349_351delACA (p.Thr117del) deletion Likely pathogenic rs1555354198 GRCh38 Chromosome 14, 35007376: 35007378
35 SRP54 NM_003136.3(SRP54): c.349_351delACA (p.Thr117del) deletion Likely pathogenic rs1555354198 GRCh37 Chromosome 14, 35476582: 35476584
36 SRP54 NM_003136.3(SRP54): c.677G> A (p.Gly226Glu) single nucleotide variant Pathogenic rs1555354750 GRCh38 Chromosome 14, 35013386: 35013386
37 SRP54 NM_003136.3(SRP54): c.677G> A (p.Gly226Glu) single nucleotide variant Pathogenic rs1555354750 GRCh37 Chromosome 14, 35482592: 35482592
38 SBDS NM_016038.3(SBDS): c.260T> G (p.Ile87Ser) single nucleotide variant Uncertain significance rs1554341363 GRCh38 Chromosome 7, 66993416: 66993416
39 SBDS NM_016038.3(SBDS): c.260T> G (p.Ile87Ser) single nucleotide variant Uncertain significance rs1554341363 GRCh37 Chromosome 7, 66458403: 66458403
40 SBDS NM_016038.3(SBDS): c.199A> G (p.Lys67Glu) single nucleotide variant Uncertain significance rs1554341499 GRCh38 Chromosome 7, 66994271: 66994271
41 SBDS NM_016038.3(SBDS): c.199A> G (p.Lys67Glu) single nucleotide variant Uncertain significance rs1554341499 GRCh37 Chromosome 7, 66459258: 66459258
42 SBDS NM_016038.3(SBDS): c.131A> G (p.Glu44Gly) single nucleotide variant Uncertain significance rs1554341516 GRCh38 Chromosome 7, 66994339: 66994339
43 SBDS NM_016038.3(SBDS): c.131A> G (p.Glu44Gly) single nucleotide variant Uncertain significance rs1554341516 GRCh37 Chromosome 7, 66459326: 66459326

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:

38
# 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 nucleoplasm GO:0005654 9.81 AGO2 DKC1 EIF6 GATA2 L3MBTL1 RPL5
2 nucleolus GO:0005730 9.28 DKC1 DNAJC21 EIF6 L3MBTL1 NIP7 RPL5
3 preribosome, large subunit precursor GO:0030687 9.26 EIF6 NIP7
4 ribosome GO:0005840 9.26 DNAJC21 RPL5 RPS14 RPS27L
5 nucleus GO:0005634 10.1 AGO2 DKC1 DNAJC21 EIF6 GATA2 L3MBTL1

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 translational initiation GO:0006413 9.62 AGO2 EIF6 RPL5 RPS14
4 SRP-dependent cotranslational protein targeting to membrane GO:0006614 9.61 RPL5 RPS14 SRP54
5 positive regulation of translation GO:0045727 9.58 EIF6 RPL5 RPS27L
6 ribosomal small subunit assembly GO:0000028 9.46 RPS14 RPS27L
7 ribosomal large subunit biogenesis GO:0042273 9.43 EIF6 NIP7 RPL5
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 9.5 RPL5 RPS14 RPS27L
2 RNA binding GO:0003723 9.28 AGO2 DKC1 DNAJC21 NIP7 RPL5 RPS14
3 mRNA 5'-UTR binding GO:0048027 9.26 RPL5 RPS14
4 ribosome binding GO:0043022 9.13 EFL1 EIF6 SBDS
5 protein binding GO:0005515 10.03 AGO2 CSF3R DKC1 DNAJC21 EIF6 ELANE

Sources for Shwachman-Diamond Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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