SDS1
MCID: SHW006
MIFTS: 66

Shwachman-Diamond Syndrome 1 (SDS1)

Categories: Blood diseases, Bone diseases, Cancer 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 57 73 29 6 37
Shwachman-Diamond Syndrome 57 12 25 20 43 58 36 54 15
Shwachman Syndrome 12 74 43 58 29 6 39 71
Shwachman-Bodian-Diamond Syndrome 12 74 25 43 58 13
Pancreatic Insufficiency and Bone Marrow Dysfunction 57 12 20 58
Sds 57 20 43 58
Shwachman-Bodian Syndrome 57 20 43
Lipomatosis of Pancreas, Congenital 57 20
Congenital Lipomatosis of Pancreas 20 43
Sds1 57 73
Shwachman-Diamond Type Metaphyseal Dysplasia 12
Metaphyseal Chondrodysplasia, Shwachman Type 43
Shwachman-Diamond Syndrome; Sds 57
Shwachman-Diamond-Oski Syndrome 43

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®:

57 (Updated 05-Mar-2021)
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

MedlinePlus Genetics : 43 Shwachman-Diamond syndrome is an inherited condition that affects many parts of the body, particularly the bone marrow, pancreas, and bones.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 cells 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, often involving the lungs (pneumonia), ears (otitis media), or skin. 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 caused by abnormal blood stem cells, 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 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 and vitamins 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 affected 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 Shwachman-Diamond syndrome 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 pancytopenia. 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 Viral mRNA Translation. The drugs Lenograstim and Sargramostim have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and pancreas, and related phenotypes are exocrine pancreatic insufficiency and failure to thrive

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

GARD : 20 Shwachman-Diamond syndrome (SDS) affects many parts of the body, particularly the bone marrow, pancreas, and skeletal system. Symptoms include the inability to digest food due to missing digestive enzymes, low muscle tone, and anemia. Other symptoms include skeletal findings and intellectual disability. Children with SDS may have feeding difficulties, slow growth, and frequent infections. People with SDS are at increased risk for blood cancers. Shwachman-Diamond syndrome can be caused by the SBDS, DNAJC21, EFL1, or SRP54 gene not working correctly. It can be inherited in either an autosomal recessive or autosomal dominant pattern. SDS is diagnosed is based on symptoms, blood tests, and genetic testing. Treatment may include enzyme and vitamin supplements, blood transfusion, granulocyte-colony stimulating factor (G-CSF), and hematopoietic stem cell transplantation.

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) (Updated 05-Mar-2021)

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 370)
# Related Disease Score Top Affiliating Genes
1 inherited bone marrow failure syndromes 31.4 SBDS DNAJC21
2 pancytopenia 31.4 U2AF1 LUC7L2 EFL1 DNAJC21 DKC1
3 aplastic anemia 31.3 U2AF1 SBDS RPS19 RPL5 DKC1
4 exocrine pancreatic insufficiency 30.8 SBDS EIF6 EFL1
5 severe congenital neutropenia 30.8 U2AF1 SRPRA SRP54 SRP19 LUC7L2
6 diamond-blackfan anemia 30.6 U2AF1 TCOF1 SBDS RPS24 RPS19 RPS17
7 dyskeratosis congenita 30.1 U2AF1 TCOF1 SBDS RPS24 RPS19 RPS17
8 severe congenital neutropenia 8 11.3
9 multiple system atrophy 1 11.0
10 late-onset retinal degeneration 10.9
11 deafness, autosomal dominant 69 10.9
12 breast abscess 10.9
13 bone marrow failure syndrome 3 10.9
14 shwachman-diamond syndrome 2 10.9
15 neutropenia, severe congenital, 8, autosomal dominant 10.9
16 isolated growth hormone deficiency, type ia 10.9
17 megalencephaly-capillary malformation-polymicrogyria syndrome 10.9
18 nanophthalmos 4 10.9
19 isolated growth hormone deficiency, type iv 10.9
20 myelodysplastic syndrome 10.8
21 myeloid leukemia 10.6
22 leukemia, acute myeloid 10.6
23 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.6
24 dysostosis 10.5
25 argyria 10.4
26 graft-versus-host disease 10.4
27 deficiency anemia 10.4
28 metaphyseal dysplasia 10.4
29 thrombocytopenia 10.4
30 lipomatosis 10.4
31 hypoglycemia 10.4
32 amegakaryocytic thrombocytopenia, congenital 10.4 SBDS RPS19 RPL35A LUC7L2
33 bowen-conradi syndrome 10.4 TCOF1 SBDS RPS19 DNAJC21
34 dyskeratosis congenita, x-linked 10.4 TCOF1 RPS19 RPL5 DKC1
35 liver disease 10.3
36 pure red-cell aplasia 10.3 RPS19 RPS17 RPL35A
37 diamond-blackfan anemia 1 10.3 RPS24 RPS19 RPL5 RPL11
38 proteinuria, chronic benign 10.3
39 otitis media 10.3
40 bacterial infectious disease 10.3
41 acute graft versus host disease 10.3
42 hypotonia 10.3
43 orofacial cleft 10.3 TCOF1 RPS19 RPS17 RPL5 RPL35A RPL11
44 pancreatic agenesis 1 10.3
45 neonatal respiratory failure 10.3
46 pancreas disease 10.3
47 pancreatitis 10.3
48 cartilage-hair hypoplasia - anauxetic dysplasia spectrum disorders 10.3
49 trichothiodystrophy 4, nonphotosensitive 10.3 SBDS EFL1
50 cartilage-hair hypoplasia 10.2 TCOF1 SBDS RPS24 RPS19 RPS14 RPL5

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 89)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 exocrine pancreatic insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0001738
2 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
3 delayed skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0002750
4 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
5 thrombocytopenia 58 31 frequent (33%) Frequent (79-30%) HP:0001873
6 myelodysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0002863
7 low levels of vitamin d 58 31 frequent (33%) Frequent (79-30%) HP:0100512
8 steatorrhea 58 31 frequent (33%) Frequent (79-30%) HP:0002570
9 low levels of vitamin e 58 31 frequent (33%) Frequent (79-30%) HP:0100513
10 low levels of vitamin a 58 31 frequent (33%) Frequent (79-30%) HP:0004905
11 macrocytic anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001972
12 low levels of vitamin k 58 31 frequent (33%) Frequent (79-30%) HP:0011892
13 pancreatic hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0002594
14 increased mean corpuscular volume 58 31 frequent (33%) Frequent (79-30%) HP:0005518
15 normocytic anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001897
16 malnutrition 58 31 frequent (33%) Frequent (79-30%) HP:0004395
17 increased serum bile acid concentration 58 31 frequent (33%) Frequent (79-30%) HP:0012202
18 impaired neutrophil chemotaxis 58 31 frequent (33%) Frequent (79-30%) HP:0040238
19 chronic neutropenia 58 31 frequent (33%) Frequent (79-30%) HP:0410252
20 transient neutropenia 58 31 frequent (33%) Frequent (79-30%) HP:0410255
21 hypoamylasemia 58 31 frequent (33%) Frequent (79-30%) HP:0410289
22 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
23 osteopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000938
24 carious teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000670
25 sinusitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000246
26 skin rash 58 31 occasional (7.5%) Occasional (29-5%) HP:0000988
27 bone marrow hypocellularity 58 31 occasional (7.5%) Occasional (29-5%) HP:0005528
28 abnormal heart morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001627
29 pneumonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002090
30 autistic behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000729
31 vertebral compression fractures 58 31 occasional (7.5%) Occasional (29-5%) HP:0002953
32 leukopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001882
33 abnormal joint morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001367
34 short attention span 58 31 occasional (7.5%) Occasional (29-5%) HP:0000736
35 metaphyseal chondrodysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0005871
36 metaphyseal widening 58 31 occasional (7.5%) Occasional (29-5%) HP:0003016
37 recurrent bacterial infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002718
38 recurrent viral infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0004429
39 metaphyseal irregularity 58 31 occasional (7.5%) Occasional (29-5%) HP:0003025
40 acute myeloid leukemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0004808
41 aplastic anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001915
42 deformed rib cage 58 31 occasional (7.5%) Occasional (29-5%) HP:0000886
43 abnormality of the thoracic cavity 58 31 occasional (7.5%) Occasional (29-5%) HP:0045027
44 diabetes mellitus 58 31 very rare (1%) Very rare (<4-1%) HP:0000819
45 hearing impairment 58 31 very rare (1%) Very rare (<4-1%) HP:0000365
46 hepatomegaly 58 31 very rare (1%) Very rare (<4-1%) HP:0002240
47 ichthyosis 58 31 very rare (1%) Very rare (<4-1%) HP:0008064
48 immunodeficiency 58 31 very rare (1%) Very rare (<4-1%) HP:0002721
49 elevated hepatic transaminase 58 31 very rare (1%) Very rare (<4-1%) HP:0002910
50 delayed eruption of teeth 58 31 very rare (1%) Very rare (<4-1%) HP:0000684

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Growth Other:
failure to thrive

Skeletal:
delayed skeletal maturation

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

Abdomen Pancreas:
exocrine pancreatic insufficiency
pancreatic lipomatosis

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

Skeletal Spine:
ovoid vertebral bodies

Neoplasia:
myelodysplasia
acute myelogenous leukemia

Skeletal Pelvis:
coxa vara
narrow sacroiliac notch

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 (Updated 05-Mar-2021)

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

26 (show all 27)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 10.66 DKC1 RPS17
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 10.66 RPS14 RPS17 U2AF1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 10.66 RPS17
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-159 10.66 RPS17
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-166 10.66 RPS17
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 10.66 RPS17
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-168 10.66 DKC1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-177 10.66 DKC1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 10.66 RPS17
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-3 10.66 DKC1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-37 10.66 RPS17
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-41 10.66 RPS17
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-7 10.66 RPS17
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-93 10.66 RPS17
15 Decreased viability GR00106-A-0 10.43 EIF6 RPL5 RPS14 RPS17 RPS19 U2AF1
16 Decreased viability GR00240-S-1 10.43 RPS14
17 Decreased viability GR00249-S 10.43 RPS14 RPS17 RPS19
18 Decreased viability GR00381-A-1 10.43 RPS14 RPS19
19 Decreased viability GR00386-A-1 10.43 RPL5 RPS14 RPS17 RPS19
20 Decreased viability GR00402-S-2 10.43 RPL5 RPS14 RPS17 RPS19 U2AF1
21 Negative genetic interaction between KRASG13D/+ and KRAS+/- GR00255-A-5 9.8 EIF6 RPL11 RPL35A RPS17 RPS19 SRP54
22 Nuclear 60S biogenesis defects GR00209-A-3 9.55 EIF6 NMD3 RPL11 RPL35A RPL5
23 HIV Rev nuclear localization GR00247-A-3 9.54 RPL11 RPS24 U2AF1
24 S arrest GR00098-A-2 9.26 RPL11 RPL35A RPS19 RPS24
25 Synthetic lethal with Ras GR00018-A-0 9.17 DKC1 RPS14 RPS17 RPS19 SRP54 TCOF1
26 Cytoplasmic 40S maturation defects GR00209-A-2 9.16 RPS17
27 Increased viability GR00386-A-1 9.02 NMD3

Drugs & Therapeutics for Shwachman-Diamond Syndrome 1

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lenograstim Approved, Investigational Phase 2 135968-09-1
2
Sargramostim Approved, Investigational Phase 2 123774-72-1, 83869-56-1
3 Immunologic Factors Phase 2
4 Adjuvants, Immunologic Phase 2
5
tannic acid Approved 1401-55-4
6
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337

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 Endocrine Diabetes Screening in Patients With Shwachman-Diamond Syndrome DIABETES/ ENDOCRINE SURVEILLANCE IN SDS Recruiting NCT04275479

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-Diamond Syndrome 1 29 DNAJC21 SBDS SRP54
2 Shwachman Syndrome 29 DNAJC21 SBDS SRP54

Anatomical Context for Shwachman-Diamond Syndrome 1

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

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

Publications for Shwachman-Diamond Syndrome 1

Articles related to Shwachman-Diamond Syndrome 1:

(show top 50) (show all 456)
# Title Authors PMID Year
1
Mutations in SBDS are associated with Shwachman-Diamond syndrome. 25 57 6 54 61
12496757 2003
2
Hematologic abnormalities in Shwachman Diamond syndrome: lack of genotype-phenotype relationship. 61 57 6 25
15769891 2005
3
Shwachman-Diamond syndrome is associated with structural brain alterations on MRI. 25 57 54 61
18478597 2008
4
Mutations in the SBDS gene in acquired aplastic anemia. 54 6 25 61
17478638 2007
5
Does isochromosome 7q mandate bone marrow transplant in children with Shwachman-Diamond syndrome? 57 25 61
12472589 2002
6
Shwachman-diamond syndrome. 25 57 61
12181037 2002
7
Serum pancreatic enzymes define the pancreatic phenotype in patients with Shwachman-Diamond syndrome. 57 25 61
12183724 2002
8
Immune function in patients with Shwachman-Diamond syndrome. 61 57 25
11553003 2001
9
Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7. 61 25 57
11254457 2001
10
Shwachman-Diamond syndrome: An inherited preleukemic bone marrow failure disorder with aberrant hematopoietic progenitors and faulty marrow microenvironment. 25 57 61
10556188 1999
11
Haematological abnormalities in Shwachman-Diamond syndrome. 61 57 25
8759887 1996
12
Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome. 54 61 57
18324336 2008
13
Shwachman syndrome as mutator phenotype responsible for myeloid dysplasia/neoplasia through karyotype instability and chromosomes 7 and 20 anomalies. 57 25
16382447 2006
14
Shwachman's syndrome: pathomorphosis and long-term outcome. 25 57
10467990 1999
15
Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar. 57 25
10393609 1999
16
Shwachman syndrome: exocrine pancreatic dysfunction and variable phenotypic expression. 57 25
8942739 1996
17
Unusual surface distribution of concanavalin A reflects a cytoskeletal defect in neutrophils in Shwachman's syndrome. 25 57
6181360 1982
18
TGFβ signaling underlies hematopoietic dysfunction and bone marrow failure in Shwachman-Diamond Syndrome. 57 61
31211692 2019
19
Magnetic resonance imaging findings of the pancreas in patients with Shwachman-Diamond syndrome and mutations in the SBDS gene. 54 25 61
18280855 2008
20
The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA. 54 61 25
17475909 2007
21
Identification of a novel AluSx-mediated deletion of exon 3 in the SBDS gene in a patient with Shwachman-Diamond syndrome. 25 61 54
17376717 2007
22
Severe Shwachman-Diamond syndrome phenotype caused by compound heterozygous missense mutations in the SBDS gene. 25 61 54
17046571 2006
23
Loss of the mouse ortholog of the shwachman-diamond syndrome gene (Sbds) results in early embryonic lethality. 25 54 61
16914746 2006
24
Shwachman-Diamond syndrome: an inherited model of aplastic anaemia with accelerated angiogenesis. 61 57
16681645 2006
25
Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome. 6 61
14749921 2004
26
Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS. 54 61 25
14984468 2004
27
Bone marrow failure in Shwachman-Diamond syndrome does not select for clonal haematopoiesis of the paroxysmal nocturnal haemoglobinuria phenotype. 61 57
12437667 2002
28
Fine mapping of the locus for Shwachman-Diamond syndrome at 7q11, identification of shared disease haplotypes, and exclusion of TPST1 as a candidate gene. 57 61
12032733 2002
29
Abnormal telomere shortening in leucocytes of children with Shwachman-Diamond syndrome. 57 61
11918553 2002
30
Shwachman-Diamond syndrome marrow cells show abnormally increased apoptosis mediated through the Fas pathway. 61 57
11342425 2001
31
Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. 57 61
11001877 2000
32
Segregation analysis in Shwachman-Diamond syndrome: evidence for recessive inheritance. 61 57
10739765 2000
33
Exclusion of linkage of Shwachman-Diamond syndrome to chromosome regions 6q and 12q implicated by a de novo translocation. 57 61
10406671 1999
34
Adult onset of acute myeloid leukaemia (M6) in patients with Shwachman-Diamond syndrome. 61 57
9359520 1997
35
Shwachman-Diamond syndrome and matched unrelated donor BMT. 61 57
8547872 1995
36
Pregnancy outcomes in mothers of offspring with inherited bone marrow failure syndromes. 25 61
28801981 2018
37
Severe infantile isolated exocrine pancreatic insufficiency caused by the complete functional loss of the SPINK1 gene. 25 61
28945313 2017
38
Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features. 61 25
28972538 2017
39
Bone mineral density in patients with inherited bone marrow failure syndromes. 61 25
28486441 2017
40
Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndrome. 25 61
28331068 2017
41
Novel recurrent chromosome anomalies in Shwachman-Diamond syndrome. 25 61
28130858 2017
42
Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome. 61 25
28062395 2017
43
A unique case of Shwachman-Diamond syndrome presenting with congenital hypopituitarism. 25 61
27754968 2016
44
Nutritional status in children with Shwachman-diamond syndrome. 61 25
25742431 2015
45
Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome. 61 25
24898207 2014
46
Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry. 61 25
24388329 2014
47
CNS lymphoma in a patient with Shwachman Diamond syndrome. 25 61
24307640 2014
48
Mitochondrial function is impaired in yeast and human cellular models of Shwachman Diamond syndrome. 61 25
23792098 2013
49
Endocrine evaluation of children with and without Shwachman-Bodian-Diamond syndrome gene mutations and Shwachman-Diamond syndrome. 25 61
23305959 2013
50
Clinical and molecular pathophysiology of Shwachman-Diamond syndrome: an update. 25 61
23351992 2013

Variations for Shwachman-Diamond Syndrome 1

ClinVar genetic disease variations for Shwachman-Diamond Syndrome 1:

6 (show all 32)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SBDS SBDS, 1-BP INS, 96A Insertion Pathogenic 3198
2 SBDS NM_016038.4(SBDS):c.120del (p.Ser41fs) Deletion Pathogenic 265256 rs113993990 7:66460285-66460285 7:66995298-66995298
3 SBDS NM_016038.4(SBDS):c.258+1G>C SNV Pathogenic 21538 rs113993992 7:66459198-66459198 7:66994211-66994211
4 SBDS NM_016038.4(SBDS):c.293_296AAGA[1] (p.Glu99fs) Microsatellite Pathogenic 21539 rs113993994 7:66458363-66458366 7:66993376-66993379
5 SBDS NM_016038.4(SBDS):c.377G>C (p.Arg126Thr) SNV Pathogenic 21540 rs113993995 7:66458286-66458286 7:66993299-66993299
6 SBDS NM_016038.4(SBDS):c.652C>T (p.Arg218Ter) SNV Pathogenic 21545 rs113993998 7:66453459-66453459 7:66988472-66988472
7 SBDS NM_016038.4(SBDS):c.98A>C (p.Lys33Thr) SNV Pathogenic 219289 rs373730800 7:66460307-66460307 7:66995320-66995320
8 SRP54 NM_003136.4(SRP54):c.343A>G (p.Thr115Ala) SNV Pathogenic 430851 rs1555354200 14:35476576-35476576 14:35007370-35007370
9 SRP54 NM_003136.4(SRP54):c.677G>A (p.Gly226Glu) SNV Pathogenic 430850 rs1555354750 14:35482592-35482592 14:35013386-35013386
10 SBDS NM_016038.4(SBDS):c.258+1G>C SNV Pathogenic 21538 rs113993992 7:66459198-66459198 7:66994211-66994211
11 SBDS NM_016038.4(SBDS):c.18del (p.Thr7fs) Deletion Pathogenic 807486 rs1584439050 7:66460387-66460387 7:66995400-66995400
12 SBDS NM_016038.4(SBDS):c.460-1G>A SNV Pathogenic 929404 7:66456289-66456289 7:66991302-66991302
13 SRP19 NM_003135.3(SRP19):c.189+5G>A SNV Pathogenic 810839 rs1322282571 5:112200230-112200230 5:112864533-112864533
14 SRPRA NM_003139.4(SRPRA):c.1390C>G (p.Gln464Glu) SNV Pathogenic 810840 11:126134989-126134989 11:126265094-126265094
15 SBDS NM_016038.2(SBDS):c.183_184delTAinsCT (p.Lys62Ter) Indel Pathogenic 3195 rs113993991 7:66459273-66459274 7:66994286-66994287
16 SBDS NM_016038.4(SBDS):c.258+2T>C SNV Pathogenic 3196 rs113993993 7:66459197-66459197 7:66994210-66994210
17 SBDS NM_016038.4(SBDS):c.624+1G>C SNV Pathogenic 21542 rs113993997 7:66456123-66456123 7:66991136-66991136
18 SRP54 NM_003136.4(SRP54):c.343_345ACA[2] (p.Thr117del) Microsatellite Pathogenic 430852 rs1555354198 14:35476575-35476577 14:35007369-35007371
19 SBDS NM_016038.4(SBDS):c.258+2T>C SNV Pathogenic 3196 rs113993993 7:66459197-66459197 7:66994210-66994210
20 SBDS NM_016038.4(SBDS):c.258+2T>C SNV Pathogenic 3196 rs113993993 7:66459197-66459197 7:66994210-66994210
21 SBDS NM_016038.4(SBDS):c.388G>A (p.Val130Met) SNV Likely pathogenic 372498 rs201070132 7:66458275-66458275 7:66993288-66993288
22 SBDS NM_016038.4(SBDS):c.184A>T (p.Lys62Ter) SNV Likely pathogenic 449095 rs120074160 7:66459273-66459273 7:66994286-66994286
23 SBDS NM_016038.4(SBDS):c.167T>C (p.Val56Ala) SNV Likely pathogenic 807485 rs1584437592 7:66459290-66459290 7:66994303-66994303
24 SBDS NM_016038.4(SBDS):c.131A>G (p.Glu44Gly) SNV Uncertain significance 549499 rs1554341516 7:66459326-66459326 7:66994339-66994339
25 SBDS NM_016038.4(SBDS):c.199A>G (p.Lys67Glu) SNV Uncertain significance 549500 rs1554341499 7:66459258-66459258 7:66994271-66994271
26 SBDS NM_016038.4(SBDS):c.260T>G (p.Ile87Ser) SNV Uncertain significance 549502 rs1554341363 7:66458403-66458403 7:66993416-66993416
27 SBDS NM_016038.4(SBDS):c.505C>T (p.Arg169Cys) SNV Uncertain significance 21541 rs113993996 7:66456243-66456243 7:66991256-66991256
28 SBDS NM_016038.4(SBDS):c.24C>A (p.Asn8Lys) SNV Uncertain significance 3197 rs28942099 7:66460381-66460381 7:66995394-66995394
29 SBDS NM_016038.4(SBDS):c.635T>C (p.Ile212Thr) SNV Benign/Likely benign 21543 rs79344818 7:66453476-66453476 7:66988489-66988489
30 SBDS NM_016038.4(SBDS):c.651C>T (p.Phe217=) SNV Benign 21544 rs73151675 7:66453460-66453460 7:66988473-66988473
31 SBDS NM_016038.4(SBDS):c.141C>T (p.Leu47=) SNV Benign 21536 rs113993989 7:66459316-66459316 7:66994329-66994329
32 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
13.54 SRPRA SRP54 SRP19 RPS24 RPS19 RPS17
2
Show member pathways
13.49 SRPRA SRP54 SRP19 RPS24 RPS19 RPS17
3
Show member pathways
13.47 U2AF1 SRPRA SRP54 SRP19 RPS24 RPS19
4
Show member pathways
12.36 RPS24 RPS19 RPS17 RPS14 RPL5 RPL35A
5
Show member pathways
12.35 RPS24 RPS19 RPS17 RPS14 RPL5 RPL35A
6
Show member pathways
12.14 RPS24 RPS19 RPS17 RPS14
7 12.02 U2AF1 RPL5 RPL11 EIF6
8 11.14 TCOF1 SBDS NMD3 EIF6 EFL1 DKC1
9 10.86 SRPRA SRP54 SRP19

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 10.28 U2AF1 TCOF1 SRP54 SBDS RPS24 RPS19
2 cytosol GO:0005829 10.2 TCOF1 SRP54 SRP19 SBDS RPS24 RPS19
3 nucleoplasm GO:0005654 10 U2AF1 TCOF1 SBDS RPS24 RPS19 RPS17
4 cytosolic large ribosomal subunit GO:0022625 9.58 RPL5 RPL35A RPL11
5 cytosolic small ribosomal subunit GO:0022627 9.56 RPS24 RPS19 RPS17 RPS14
6 ribosome GO:0005840 9.56 RPS24 RPS19 RPS17 RPS14 RPL5 RPL35A
7 preribosome, large subunit precursor GO:0030687 9.48 NIP7 EIF6
8 signal recognition particle, endoplasmic reticulum targeting GO:0005786 9.46 SRP54 SRP19
9 nucleolus GO:0005730 9.44 TCOF1 SRP54 SRP19 SBDS RPS19 RPS14
10 signal recognition particle GO:0048500 9.37 SRP54 SRP19

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO:0000184 9.91 RPS24 RPS19 RPS17 RPS14 RPL5 RPL35A
2 translation GO:0006412 9.91 RPS24 RPS19 RPS17 RPS14 RPL5 RPL35A
3 viral transcription GO:0019083 9.87 RPS24 RPS19 RPS17 RPS14 RPL5 RPL35A
4 ribosome biogenesis GO:0042254 9.83 SBDS NIP7 EIF6 EFL1 DKC1
5 ribosomal large subunit biogenesis GO:0042273 9.8 RPL5 RPL35A RPL11 NIP7 EIF6
6 translational initiation GO:0006413 9.76 RPS24 RPS19 RPS17 RPS14 RPL5 RPL35A
7 ribosomal small subunit biogenesis GO:0042274 9.65 RPS24 RPS19 RPS17
8 mature ribosome assembly GO:0042256 9.63 SBDS EIF6 EFL1
9 rRNA processing GO:0006364 9.61 SBDS RPS24 RPS19 RPS17 RPS14 RPL5
10 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) GO:0000462 9.6 RPS19 RPS14
11 ribosomal large subunit assembly GO:0000027 9.59 RPL5 RPL11
12 negative regulation of ubiquitin-dependent protein catabolic process GO:2000059 9.58 RPL5 RPL11
13 ribosomal small subunit assembly GO:0000028 9.58 RPS19 RPS14
14 maturation of SSU-rRNA GO:0030490 9.57 RPS19 RPS14
15 protein targeting to ER GO:0045047 9.56 SRPRA SRP54
16 SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition GO:0006617 9.55 SRP54 SRP19
17 cotranslational protein targeting to membrane GO:0006613 9.54 SRPRA SRP19
18 negative regulation of ubiquitin protein ligase activity GO:1904667 9.52 RPL5 RPL11
19 erythrocyte homeostasis GO:0034101 9.51 RPS24 RPS17
20 negative regulation of protein neddylation GO:2000435 9.49 RPL5 RPL11
21 SRP-dependent cotranslational protein targeting to membrane GO:0006614 9.32 SRPRA SRP54 SRP19 RPS24 RPS19 RPS17

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

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.58 U2AF1 TCOF1 SRPRA SRP54 SRP19 SBDS
2 structural constituent of ribosome GO:0003735 9.5 RPS24 RPS19 RPS17 RPS14 RPL5 RPL35A
3 mRNA 5'-UTR binding GO:0048027 9.46 RPS14 RPL5
4 ribosome binding GO:0043022 9.46 SRP19 SBDS EIF6 EFL1
5 ribosomal large subunit binding GO:0043023 9.43 NMD3 EIF6
6 rRNA binding GO:0019843 9.43 SBDS RPL5 RPL11
7 5S rRNA binding GO:0008097 9.4 RPL5 RPL11
8 7S RNA binding GO:0008312 9.37 SRP54 SRP19
9 ubiquitin ligase inhibitor activity GO:1990948 9.32 RPL5 RPL11

Sources for Shwachman-Diamond Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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