SDS1
MCID: SHW006
MIFTS: 66

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 56 73 37
Shwachman-Diamond Syndrome 56 12 24 52 25 58 36 54 15
Shwachman Syndrome 12 74 25 58 29 6 39 71
Shwachman-Bodian-Diamond Syndrome 12 74 24 25 58 13
Pancreatic Insufficiency and Bone Marrow Dysfunction 56 12 52 58
Sds 56 52 25 58
Shwachman-Bodian Syndrome 56 52 25
Lipomatosis of Pancreas, Congenital 56 52
Congenital Lipomatosis of Pancreas 52 25
Sds1 56 73
Metaphyseal Chondrodysplasia, Shwachman Type 25
Shwachman-Diamond Syndrome; Sds 56
Shwachman-Diamond-Oski Syndrome 25

Characteristics:

Orphanet epidemiological data:

58
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:

56
Inheritance:
autosomal recessive

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


HPO:

31
shwachman-diamond syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Rare bone diseases
Developmental anomalies during embryogenesis
Rare haematological diseases
Rare immunological diseases


Summaries for Shwachman-Diamond Syndrome 1

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. The major function of bone marrow is to produce new blood cells. These include red blood cells, which carry oxygen to the body's tissues; white blood cells, which fight infection; and platelets, which are blood cell fragments that are necessary for normal blood clotting. In Shwachman-Diamond syndrome, the bone marrow malfunctions and does not make some or all types of white blood cells. A shortage of neutrophils, the most common type of white blood cell, causes a condition called neutropenia. Most people with Shwachman-Diamond syndrome have at least occasional episodes of neutropenia, which makes them more vulnerable to infections such as pneumonia, recurrent ear infections (otitis media), and skin infections. Less commonly, bone marrow abnormalities lead to a shortage of red blood cells (anemia), which causes fatigue and weakness, or a reduction in the amount of platelets (thrombocytopenia), which can result in easy bruising and abnormal bleeding. People with Shwachman-Diamond syndrome have an increased risk of several serious complications related to their malfunctioning bone marrow. Specifically, they have a higher-than-average chance of developing myelodysplastic syndrome (MDS) and aplastic anemia, which are disorders that affect blood cell production, and a cancer of blood-forming tissue known as acute myeloid leukemia (AML). Shwachman-Diamond syndrome also affects the pancreas, which is an organ that plays an essential role in digestion. One of this organ's main functions is to produce enzymes that help break down and use the nutrients from food. In most infants with Shwachman-Diamond syndrome, the pancreas does not produce enough of these enzymes. This condition is known as pancreatic insufficiency. Infants with pancreatic insufficiency have trouble digesting food and absorbing nutrients that are needed for growth. As a result, they often have fatty, foul-smelling stools (steatorrhea); are slow to grow and gain weight (failure to thrive); and experience malnutrition. Pancreatic insufficiency often improves with age in people with Shwachman-Diamond syndrome. Skeletal abnormalities are another common feature of Shwachman-Diamond syndrome. Many affected individuals have problems with bone formation and growth, most often affecting the hips and knees. Low bone density is also frequently associated with this condition. Some infants are born with a narrow rib cage and short ribs, which can cause life-threatening problems with breathing. The combination of skeletal abnormalities and slow growth results in short stature in most people with this disorder. The complications of this condition can affect several other parts of the body, including the liver, heart, endocrine system (which produces hormones), eyes, teeth, and skin. Additionally, studies suggest that Shwachman-Diamond syndrome may be associated with delayed speech and the delayed development of motor skills such as sitting, standing, and walking.

MalaCards based summary : Shwachman-Diamond Syndrome 1, also known as shwachman-diamond syndrome, is related to inherited bone marrow failure syndromes and aplastic anemia. 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 Metabolism of proteins. The drugs Sargramostim and Lenograstim have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and pancreas, and related phenotypes are generalized hypotonia and exocrine pancreatic insufficiency

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

NIH Rare Diseases : 52 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 : 56 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)

KEGG : 36 Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disease, mainly characterized by exocrine pancreatic insufficiency, hematological dysfunction and skeletal abnormalities. In most cases, SDS is associated with mutations in SBDS, a protein involved in maturation and export of the ribosomal 60S subunit.

UniProtKB/Swiss-Prot : 73 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.

Wikipedia : 74 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 642)
# Related Disease Score Top Affiliating Genes
1 inherited bone marrow failure syndromes 31.8 SBDS DNAJC21
2 aplastic anemia 31.5 SBDS RPS19 RPL5 ERCC6 DKC1
3 pancytopenia 31.5 LUC7L2 DNAJC21 DKC1
4 diamond-blackfan anemia 1 30.9 RPS19 RPL5
5 diamond-blackfan anemia 30.1 UTP4 SBDS RPS24 RPS19 RPS17 RPS14
6 dyskeratosis congenita 29.7 UTP4 SBDS RPS24 RPS19 RPS17 RPS14
7 trichohepatoenteric syndrome 1 12.0
8 salla disease 12.0
9 semantic dementia 11.7
10 seborrheic dermatitis 11.7
11 microcephaly 11.4
12 sandhoff disease 11.4
13 late-onset retinal degeneration 11.2
14 deafness, autosomal dominant 69 11.2
15 breast abscess 11.2
16 bone marrow failure syndrome 3 11.2
17 shwachman-diamond syndrome 2 11.2
18 neutropenia, severe congenital, 8, autosomal dominant 11.2
19 multiple system atrophy 1 11.2
20 sickle cell - hemoglobin d disease 11.2
21 microcephaly 1, primary, autosomal recessive 11.2
22 desbuquois dysplasia 1 11.2
23 sialuria 11.2
24 megalencephaly-capillary malformation-polymicrogyria syndrome 11.2
25 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 11.2
26 macrocephaly/autism syndrome 11.2
27 microcephaly, autosomal dominant 11.1
28 isolated growth hormone deficiency, type ia 11.1
29 short stature, idiopathic, x-linked 11.1
30 mental retardation and microcephaly with pontine and cerebellar hypoplasia 11.1
31 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 11.1
32 microcephaly 5, primary, autosomal recessive 11.1
33 isolated growth hormone deficiency, type ib 11.1
34 lissencephaly 4 11.1
35 microcephaly 10, primary, autosomal recessive 11.1
36 desbuquois dysplasia 2 11.1
37 acid-labile subunit deficiency 11.1
38 nanophthalmos 4 11.1
39 macular dystrophy, vitelliform, 4 11.1
40 macular dystrophy, vitelliform, 5 11.1
41 short stature with nonspecific skeletal abnormalities 11.1
42 microcephaly 17, primary, autosomal recessive 11.1
43 leukodystrophy, hypomyelinating, 17 11.1
44 isolated growth hormone deficiency, type iv 11.1
45 myelodysplastic syndrome 10.9
46 leukemia, acute myeloid 10.7
47 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.7
48 dysostosis 10.7
49 thrombocytopenia 10.6
50 lipomatosis 10.6

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:

58 31 (show top 50) (show all 54)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 generalized hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001290
2 exocrine pancreatic insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0001738
3 neutropenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001875
4 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
5 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
6 osteopenia 58 31 frequent (33%) Frequent (79-30%) HP:0000938
7 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
8 delayed skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0002750
9 malabsorption 58 31 frequent (33%) Frequent (79-30%) HP:0002024
10 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
11 ichthyosis 58 31 frequent (33%) Frequent (79-30%) HP:0008064
12 anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001903
13 abnormality of the metaphysis 58 31 frequent (33%) Frequent (79-30%) HP:0000944
14 thrombocytopenia 58 31 frequent (33%) Frequent (79-30%) HP:0001873
15 recurrent infections 58 31 frequent (33%) Frequent (79-30%) HP:0002719
16 eczema 58 31 frequent (33%) Frequent (79-30%) HP:0000964
17 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
18 gait disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0001288
19 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
20 carious teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000670
21 pectus carinatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000768
22 type i diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0100651
23 bone marrow hypocellularity 58 31 occasional (7.5%) Occasional (29-5%) HP:0005528
24 aplastic anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001915
25 myelodysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002863
26 acute myeloid leukemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0004808
27 short thorax 58 31 occasional (7.5%) Occasional (29-5%) HP:0010306
28 microdontia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000691
29 recurrent aphthous stomatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0011107
30 proximal femoral metaphyseal irregularity 31 very rare (1%) HP:0003411
31 anterior rib cupping 31 very rare (1%) HP:0000907
32 metaphyseal chondrodysplasia 31 HP:0005871
33 intellectual disability, mild 31 HP:0001256
34 pancytopenia 31 HP:0001876
35 ovoid vertebral bodies 31 HP:0003300
36 narrow chest 31 HP:0000774
37 respiratory distress 31 HP:0002098
38 growth delay 58 Frequent (79-30%)
39 specific learning disability 31 HP:0001328
40 elevated hepatic transaminase 31 HP:0002910
41 neonatal respiratory distress 31 HP:0002643
42 persistence of hemoglobin f 31 HP:0011904
43 nephrocalcinosis 31 HP:0000121
44 leukemia 58 Occasional (29-5%)
45 narrow sacroiliac notch 31 HP:0008803
46 coxa vara 31 HP:0002812
47 small for gestational age 31 HP:0001518
48 steatorrhea 31 HP:0002570
49 metaphyseal widening 31 HP:0003016
50 metaphyseal sclerosis 31 HP:0004979

Symptoms via clinical synopsis from OMIM:

56
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 Ribs Sternum Clavicles And Scapulae:
irregular ossification at anterior rib ends
costochondral thickening

Chest External Features:
narrow thorax

Growth Weight:
low birth weight

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

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

Cardiovascular Heart:
myocardial necrosis

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

Respiratory Lung:
respiratory distress in neonatal period

Clinical features from OMIM:

260400

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

26 (show all 36)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-1 10.89 RPS19
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 10.89 RPL5
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 10.89 RPS17 DKC1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-111 10.89 DKC1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 10.89 RPS17 RPS14
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 10.89 RPS17 RPS19 DKC1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 10.89 ERCC6
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 10.89 DKC1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 10.89 RPS17
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 10.89 ERCC6
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 10.89 RPL5 RPS14
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 10.89 RPL5
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 10.89 RPS17 RPS19
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 10.89 RPS19
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 10.89 ERCC6
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 10.89 RPS17
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-209 10.89 ERCC6 RPS17 RPS19
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 10.89 RPS17 RPL5 RPS14
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 10.89 RPS17
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-79 10.89 DKC1
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 10.89 DKC1
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 10.89 DKC1
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 10.89 ERCC6 RPS17 DKC1 RPL5 RPS14
24 Decreased NF-kappaB reporter expression GR00312-A 10.31 DKC1 ERCC6 HAX1 LUC7L2 RPL11 RPL15
25 Decreased viability GR00106-A-0 10.27 EIF6 RPL5 RPS14 RPS17 RPS19
26 Decreased viability GR00240-S-1 10.27 RPS14
27 Decreased viability GR00381-A-1 10.27 RPS14 RPS19
28 Decreased viability GR00402-S-2 10.27 EIF6 RPL5 RPS14 RPS17 RPS19
29 Increased viability GR00386-A-1 10.13 ERCC6 LUC7L2 NMD3 RPL11 RPL15 RPL35A
30 Increased G2M DNA content, increased 8N DNA content GR00098-A-1 10.02 EFL1 HAX1 RPL11 RPL15 RPL35A RPL5
31 Decreased viability of wild-type and TP53 knockout cells, decreased TP53 protein expression ratio (wild-type / TP53 knockout cells) GR00196-A-1 9.98 RPL11 RPL15 RPL35A RPL5 RPS14 RPS17
32 Negative genetic interaction between KRASG13D/+ and KRAS+/- GR00255-A-5 9.8 EIF6 RPL11 RPL15 RPL35A RPS17 RPS19
33 HIV Rev nuclear localization GR00247-A-3 9.58 RPL11 RPL15 RPS24
34 Nuclear 40S maturation defects GR00209-A-2 9.46 RPL11 RPS14 RPS17 UTP4
35 Nuclear 60S biogenesis defects GR00209-A-3 9.35 EIF6 NMD3 RPL11 RPL35A RPL5
36 Nucleoplasmic pre-40S maturation defects GR00209-A-1 9.17 RPL11 RPL35A RPL5 RPS14 RPS17 RPS24

MGI Mouse Phenotypes related to Shwachman-Diamond Syndrome 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.4 DKC1 DNAJC21 EIF6 ERCC6 HAX1 NIP7

Drugs & Therapeutics for Shwachman-Diamond Syndrome 1

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

(show all 36)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sargramostim Approved, Investigational Phase 2 123774-72-1, 83869-56-1
2
Lenograstim Approved, Investigational Phase 2 135968-09-1
3
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
4
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
5
leucovorin Approved Phase 2 58-05-9 6006 143
6
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
7
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
8
Busulfan Approved, Investigational Phase 2 55-98-1 2478
9
Vidarabine Approved, Investigational Phase 2 24356-66-9 32326 21704
10
Mycophenolic acid Approved Phase 2 24280-93-1 446541
11
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
12
Treosulfan Investigational Phase 2 299-75-2 9296
13 Adjuvants, Immunologic Phase 2
14 Thymoglobulin Phase 2
15 Alkylating Agents Phase 2
16 Antibiotics, Antitubercular Phase 2
17 Antitubercular Agents Phase 2
18 Folic Acid Antagonists Phase 2
19 Anti-Infective Agents Phase 2
20 Vitamin B Complex Phase 2
21 Anti-Bacterial Agents Phase 2
22 Antilymphocyte Serum Phase 2
23 Folate Phase 2
24 Cyclosporins Phase 2
25 Antiviral Agents Phase 2
26 Vitamin B9 Phase 2
27 Antifungal Agents Phase 2
28 Antimetabolites Phase 2
29 Antirheumatic Agents Phase 2
30 Immunosuppressive Agents Phase 2
31 Calcineurin Inhibitors Phase 2
32 Vidarabine Phosphate Phase 2
33
Pancrelipase Approved, Investigational 53608-75-6
34 pancreatin
35 Immunologic Factors
36 Dermatologic Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes Completed NCT00004787 Phase 2 filgrastim
2 Allogeneic Hematopoietic Cell Transplantation for Patients With Nonmalignant Inherited Disorders Using a Treosulfan Based Preparative Regimen Recruiting NCT00919503 Phase 2 Cyclosporine;Fludarabine Phosphate;Methotrexate;Mycophenolate Mofetil;Tacrolimus;Treosulfan
3 A Study Evaluating BPX-501 T Cells and AP1903 for Prevention of Graft Versus Host Disease (GVHD) After Haploidentical, Related, T Cell-Depleted Hematopoietic Cell Transplantation for Non-Malignant Diseases Active, not recruiting NCT02231710 Phase 1
4 TCR Vbeta Repertoire and PNH Clones in Children With Refractory Cytopenia (RC). An Open Nonrandomised Multi-Center Prospective Study Completed NCT00499070
5 Etiologic Investigation of Cancer Susceptibility in Inherited Bone Marrow Failure Syndromes: A Natural History Study Recruiting NCT00027274
6 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation for Children With Non-Malignant Diseases Who Have Been Multiply Transfused: a Pilot Study Terminated NCT01319851 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

Genetic Tests for Shwachman-Diamond Syndrome 1

Genetic tests related to Shwachman-Diamond Syndrome 1:

# Genetic test Affiliating Genes
1 Shwachman Syndrome 29 DNAJC21 SBDS SRP54

Anatomical Context for Shwachman-Diamond Syndrome 1

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

40
Bone, Bone Marrow, Pancreas, Myeloid, Liver, Neutrophil, Heart

Publications for Shwachman-Diamond Syndrome 1

Articles related to Shwachman-Diamond Syndrome 1:

(show top 50) (show all 431)
# Title Authors PMID Year
1
Mutations in SBDS are associated with Shwachman-Diamond syndrome. 54 61 24 56 6
12496757 2003
2
Hematologic abnormalities in Shwachman Diamond syndrome: lack of genotype-phenotype relationship. 61 24 56 6
15769891 2005
3
Shwachman-Diamond syndrome is associated with structural brain alterations on MRI. 54 61 24 56
18478597 2008
4
Mutations in the SBDS gene in acquired aplastic anemia. 54 61 24 6
17478638 2007
5
Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome. 61 24 6
22191555 2011
6
Does isochromosome 7q mandate bone marrow transplant in children with Shwachman-Diamond syndrome? 61 24 56
12472589 2002
7
Shwachman-diamond syndrome. 61 24 56
12181037 2002
8
Serum pancreatic enzymes define the pancreatic phenotype in patients with Shwachman-Diamond syndrome. 61 24 56
12183724 2002
9
Immune function in patients with Shwachman-Diamond syndrome. 61 24 56
11553003 2001
10
Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7. 61 24 56
11254457 2001
11
Shwachman-Diamond syndrome: An inherited preleukemic bone marrow failure disorder with aberrant hematopoietic progenitors and faulty marrow microenvironment. 61 24 56
10556188 1999
12
Haematological abnormalities in Shwachman-Diamond syndrome. 61 24 56
8759887 1996
13
Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome. 54 61 56
18324336 2008
14
Shwachman syndrome as mutator phenotype responsible for myeloid dysplasia/neoplasia through karyotype instability and chromosomes 7 and 20 anomalies. 24 56
16382447 2006
15
Shwachman's syndrome: pathomorphosis and long-term outcome. 24 56
10467990 1999
16
Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar. 24 56
10393609 1999
17
Shwachman syndrome: exocrine pancreatic dysfunction and variable phenotypic expression. 24 56
8942739 1996
18
Unusual surface distribution of concanavalin A reflects a cytoskeletal defect in neutrophils in Shwachman's syndrome. 24 56
6181360 1982
19
Pancreatitis Overview 61 6
24624459 2014
20
Shwachman-Diamond Syndrome 61 6
20301722 2008
21
Magnetic resonance imaging findings of the pancreas in patients with Shwachman-Diamond syndrome and mutations in the SBDS gene. 54 61 24
18280855 2008
22
The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA. 54 61 24
17475909 2007
23
Identification of a novel AluSx-mediated deletion of exon 3 in the SBDS gene in a patient with Shwachman-Diamond syndrome. 54 61 24
17376717 2007
24
Severe Shwachman-Diamond syndrome phenotype caused by compound heterozygous missense mutations in the SBDS gene. 54 61 24
17046571 2006
25
Loss of the mouse ortholog of the shwachman-diamond syndrome gene (Sbds) results in early embryonic lethality. 54 61 24
16914746 2006
26
Shwachman-Diamond syndrome: an inherited model of aplastic anaemia with accelerated angiogenesis. 61 56
16681645 2006
27
Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome. 61 6
14749921 2004
28
Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS. 54 61 24
14984468 2004
29
Bone marrow failure in Shwachman-Diamond syndrome does not select for clonal haematopoiesis of the paroxysmal nocturnal haemoglobinuria phenotype. 61 56
12437667 2002
30
Fine mapping of the locus for Shwachman-Diamond syndrome at 7q11, identification of shared disease haplotypes, and exclusion of TPST1 as a candidate gene. 61 56
12032733 2002
31
Abnormal telomere shortening in leucocytes of children with Shwachman-Diamond syndrome. 61 56
11918553 2002
32
Shwachman-Diamond syndrome marrow cells show abnormally increased apoptosis mediated through the Fas pathway. 61 56
11342425 2001
33
Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. 61 56
11001877 2000
34
Segregation analysis in Shwachman-Diamond syndrome: evidence for recessive inheritance. 61 56
10739765 2000
35
Exclusion of linkage of Shwachman-Diamond syndrome to chromosome regions 6q and 12q implicated by a de novo translocation. 61 56
10406671 1999
36
Adult onset of acute myeloid leukaemia (M6) in patients with Shwachman-Diamond syndrome. 61 56
9359520 1997
37
Shwachman-Diamond syndrome and matched unrelated donor BMT. 61 56
8547872 1995
38
Pregnancy outcomes in mothers of offspring with inherited bone marrow failure syndromes. 61 24
28801981 2018
39
Severe infantile isolated exocrine pancreatic insufficiency caused by the complete functional loss of the SPINK1 gene. 61 24
28945313 2017
40
Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features. 61 24
28972538 2017
41
Bone mineral density in patients with inherited bone marrow failure syndromes. 61 24
28486441 2017
42
Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndrome. 61 24
28331068 2017
43
Novel recurrent chromosome anomalies in Shwachman-Diamond syndrome. 61 24
28130858 2017
44
Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome. 61 24
28062395 2017
45
A unique case of Shwachman-Diamond syndrome presenting with congenital hypopituitarism. 61 24
27754968 2016
46
Nutritional status in children with Shwachman-diamond syndrome. 61 24
25742431 2015
47
Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome. 61 24
24898207 2014
48
Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry. 61 24
24388329 2014
49
CNS lymphoma in a patient with Shwachman Diamond syndrome. 61 24
24307640 2014
50
Mitochondrial function is impaired in yeast and human cellular models of Shwachman Diamond syndrome. 61 24
23792098 2013

Variations for Shwachman-Diamond Syndrome 1

ClinVar genetic disease variations for Shwachman-Diamond Syndrome 1:

6 (show all 26) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SBDS NM_016038.4(SBDS):c.98A>C (p.Lys33Thr)SNV Pathogenic 219289 rs373730800 7:66460307-66460307 7:66995320-66995320
2 SBDS NM_016038.2(SBDS):c.183_184delTAinsCT (p.Lys62Ter)indel Pathogenic 3195 rs113993991 7:66459273-66459274 7:66994286-66994287
3 SBDS NM_016038.4(SBDS):c.258+2T>CSNV Pathogenic 3196 rs113993993 7:66459197-66459197 7:66994210-66994210
4 SBDS NM_016038.4(SBDS):c.258+1G>CSNV Pathogenic 21538 rs113993992 7:66459198-66459198 7:66994211-66994211
5 SBDS NM_016038.4(SBDS):c.293_296AAGA[1] (p.Glu99fs)short repeat Pathogenic 21539 rs113993994 7:66458363-66458366 7:66993376-66993379
6 SBDS NM_016038.4(SBDS):c.377G>C (p.Arg126Thr)SNV Pathogenic 21540 rs113993995 7:66458286-66458286 7:66993299-66993299
7 SBDS SBDS, 1-BP INS, 96Ainsertion Pathogenic 3198
8 SBDS NM_016038.4(SBDS):c.624+1G>CSNV Pathogenic 21542 rs113993997 7:66456123-66456123 7:66991136-66991136
9 SBDS NM_016038.4(SBDS):c.652C>T (p.Arg218Ter)SNV Pathogenic 21545 rs113993998 7:66453459-66453459 7:66988472-66988472
10 SBDS NM_016038.4(SBDS):c.120del (p.Ser41fs)deletion Pathogenic 265256 rs113993990 7:66460285-66460285 7:66995298-66995298
11 SRP54 NM_003136.4(SRP54):c.343A>G (p.Thr115Ala)SNV Pathogenic 430851 rs1555354200 14:35476576-35476576 14:35007370-35007370
12 SRP54 NM_003136.4(SRP54):c.677G>A (p.Gly226Glu)SNV Pathogenic 430850 rs1555354750 14:35482592-35482592 14:35013386-35013386
13 SBDS NM_016038.4(SBDS):c.18del (p.Thr7fs)deletion Pathogenic 807486 7:66460387-66460387 7:66995400-66995400
14 SBDS NM_016038.4(SBDS):c.184A>T (p.Lys62Ter)SNV Pathogenic/Likely pathogenic 449095 rs120074160 7:66459273-66459273 7:66994286-66994286
15 SBDS NM_016038.4(SBDS):c.167T>C (p.Val56Ala)SNV Likely pathogenic 807485 7:66459290-66459290 7:66994303-66994303
16 SRP54 NM_003136.4(SRP54):c.343_345ACA[2] (p.Thr117del)short repeat Likely pathogenic 430852 rs1555354198 14:35476575-35476577 14:35007369-35007371
17 SBDS NM_016038.4(SBDS):c.388G>A (p.Val130Met)SNV Likely pathogenic 372498 rs201070132 7:66458275-66458275 7:66993288-66993288
18 SBDS NM_016038.4(SBDS):c.505C>T (p.Arg169Cys)SNV Uncertain significance 21541 rs113993996 7:66456243-66456243 7:66991256-66991256
19 SBDS NM_016038.4(SBDS):c.24C>A (p.Asn8Lys)SNV Uncertain significance 3197 rs28942099 7:66460381-66460381 7:66995394-66995394
20 SBDS NM_016038.4(SBDS):c.260T>G (p.Ile87Ser)SNV Uncertain significance 549502 rs1554341363 7:66458403-66458403 7:66993416-66993416
21 SBDS NM_016038.4(SBDS):c.199A>G (p.Lys67Glu)SNV Uncertain significance 549500 rs1554341499 7:66459258-66459258 7:66994271-66994271
22 SBDS NM_016038.4(SBDS):c.131A>G (p.Glu44Gly)SNV Uncertain significance 549499 rs1554341516 7:66459326-66459326 7:66994339-66994339
23 SBDS NM_016038.4(SBDS):c.635T>C (p.Ile212Thr)SNV Benign/Likely benign 21543 rs79344818 7:66453476-66453476 7:66988489-66988489
24 SBDS NM_016038.4(SBDS):c.651C>T (p.Phe217=)SNV Benign 21544 rs73151675 7:66453460-66453460 7:66988473-66988473
25 SBDS NM_016038.4(SBDS):c.141C>T (p.Leu47=)SNV Benign 21536 rs113993989 7:66459316-66459316 7:66994329-66994329
26 SBDS NM_016038.4(SBDS):c.201A>G (p.Lys67=)SNV Benign 21537 rs1061695 7:66459256-66459256 7:66994269-66994269

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

73
# Symbol AA change Variation ID SNP ID
1 SBDS p.Arg126Thr VAR_015394 rs113993995
2 SBDS p.Lys33Thr VAR_071673 rs373730800

Copy number variations for Shwachman-Diamond Syndrome 1 from CNVD:

7
# CNVD ID Chromosome 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:

36
# 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
Show member pathways
13.48 SRP54 RPS24 RPS19 RPS17 RPS14 RPL5
2
Show member pathways
13.47 UTP4 SRP54 RPS24 RPS19 RPS17 RPS14
3
Show member pathways
13.42 SRP54 RPS24 RPS19 RPS17 RPS14 RPL5
4
Show member pathways
13.4 RPS24 RPS19 RPS17 RPS14 RPL5 RPL35A
5
Show member pathways
12.4 RPS24 RPS19 RPS17 RPS14 RPL5 RPL35A
6
Show member pathways
12.13 UTP4 RPS24 RPS19 RPS17 RPS14 RPL5
7
Show member pathways
12 RPS24 RPS19 RPS17 RPS14
8 11.45 UTP4 SBDS NMD3 EIF6 EFL1 DKC1

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 nucleus GO:0005634 10.27 UTP4 SRP54 SBDS RPS24 RPS19 RPL5
2 cytosol GO:0005829 10.25 SRP54 SBDS RPS24 RPS19 RPS17 RPS14
3 nucleoplasm GO:0005654 10 UTP4 SBDS RPS24 RPS19 RPS17 RPS14
4 intracellular GO:0005622 9.95 RPS24 RPS19 RPS17 RPL5 RPL35A RPL15
5 focal adhesion GO:0005925 9.78 RPS19 RPS17 RPS14 RPL5
6 cytosolic large ribosomal subunit GO:0022625 9.62 RPL5 RPL35A RPL15 RPL11
7 ribosome GO:0005840 9.61 RPS24 RPS19 RPS17 RPS14 RPL5 RPL35A
8 cytosolic small ribosomal subunit GO:0022627 9.56 RPS24 RPS19 RPS17 RPS14
9 preribosome, large subunit precursor GO:0030687 9.46 NIP7 EIF6
10 nucleolus GO:0005730 9.44 UTP4 SRP54 SBDS RPS19 RPS14 RPL5

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 translation GO:0006412 10.02 RPS24 RPS19 RPS17 RPS14 RPL5 RPL35A
2 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO:0000184 9.97 RPS24 RPS19 RPS17 RPS14 RPL5 RPL35A
3 ribosome biogenesis GO:0042254 9.91 UTP4 SBDS NIP7 EIF6 EFL1 DKC1
4 viral transcription GO:0019083 9.86 RPS24 RPS19 RPS17 RPS14 RPL5 RPL35A
5 translational initiation GO:0006413 9.81 RPS24 RPS19 RPS17 RPS14 RPL5 RPL35A
6 ribosomal large subunit biogenesis GO:0042273 9.8 RPL5 RPL35A RPL11 NIP7 EIF6
7 cytoplasmic translation GO:0002181 9.7 RPL35A RPL15 RPL11
8 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) GO:0000462 9.69 UTP4 RPS19 RPS14
9 ribosomal small subunit biogenesis GO:0042274 9.67 RPS24 RPS19 RPS17
10 maturation of SSU-rRNA GO:0030490 9.65 UTP4 RPS19 RPS14
11 mature ribosome assembly GO:0042256 9.63 SBDS EIF6 EFL1
12 SRP-dependent cotranslational protein targeting to membrane GO:0006614 9.61 SRP54 RPS24 RPS19 RPS17 RPS14 RPL5
13 ribosomal large subunit assembly GO:0000027 9.58 RPL5 RPL11
14 negative regulation of ubiquitin-dependent protein catabolic process GO:2000059 9.58 RPL5 RPL11
15 ribosomal small subunit assembly GO:0000028 9.57 RPS19 RPS14
16 erythrocyte homeostasis GO:0034101 9.56 RPS24 RPS17
17 negative regulation of ubiquitin protein ligase activity GO:1904667 9.55 RPL5 RPL11
18 negative regulation of protein neddylation GO:2000435 9.54 RPL5 RPL11
19 rRNA processing GO:0006364 9.32 UTP4 SBDS RPS24 RPS19 RPS17 RPS14

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 9.56 RPS24 RPS19 RPS17 RPS14 RPL5 RPL35A
2 RNA binding GO:0003723 9.53 UTP4 SRP54 SBDS RPS24 RPS19 RPS17
3 ribosome binding GO:0043022 9.5 SBDS EIF6 EFL1
4 mRNA 5'-UTR binding GO:0048027 9.43 RPS14 RPL5
5 ribosomal large subunit binding GO:0043023 9.4 NMD3 EIF6
6 5S rRNA binding GO:0008097 9.37 RPL5 RPL11
7 rRNA binding GO:0019843 9.33 SBDS RPL5 RPL11
8 ubiquitin ligase inhibitor activity GO:1990948 9.26 RPL5 RPL11

Sources for Shwachman-Diamond Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....