SDS1
MCID: SHW006
MIFTS: 68

Shwachman-Diamond Syndrome 1 (SDS1)

Categories: Blood diseases, Bone diseases, Cancer diseases, Endocrine diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Shwachman-Diamond Syndrome 1

MalaCards integrated aliases for Shwachman-Diamond Syndrome 1:

Name: Shwachman-Diamond Syndrome 1 57 73 28 5 36
Shwachman-Diamond Syndrome 57 11 24 19 42 58 53 14 38 75
Shwachman Syndrome 11 42 58 75 28 5 71
Shwachman-Bodian-Diamond Syndrome 11 24 42 58 75 12
Pancreatic Insufficiency and Bone Marrow Dysfunction 57 11 19 58
Sds 57 19 42 58
Shwachman-Bodian Syndrome 57 19 42
Lipomatosis of Pancreas, Congenital 57 19
Congenital Lipomatosis of Pancreas 19 42
Sds1 57 73
Shwachman-Diamond Type Metaphyseal Dysplasia 11
Metaphyseal Chondrodysplasia, Shwachman Type 42
Shwachman-Diamond-Oski Syndrome 42

Characteristics:


Inheritance:

Shwachman-Diamond Syndrome 1: Autosomal recessive 57
Shwachman-Diamond Syndrome: Autosomal recessive 58

Prevelance:

Shwachman-Diamond Syndrome: 1-9/1000000 (Italy, United Kingdom, Puerto rico, Europe, Worldwide, Worldwide) 1-9/100000 (Canada) 58

Age Of Onset:

Shwachman-Diamond Syndrome: Antenatal,Childhood,Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
increased susceptibility to infection
moderate age-related improvement of pancreatic function
broad range in severity of presentation in sibships


Classifications:

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


Summaries for Shwachman-Diamond Syndrome 1

MedlinePlus Genetics: 42 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 exocrine pancreatic insufficiency and severe congenital neutropenia 8. An important gene associated with Shwachman-Diamond Syndrome 1 is SBDS (SBDS Ribosome Maturation Factor), and among its related pathways/superpathways are Metabolism of proteins and Peptide chain elongation. The drugs Vidarabine and Lenograstim 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

GARD: 19 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.

UniProtKB/Swiss-Prot: 73 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.

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 08-Dec-2022)

Orphanet: 58 Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.

Disease Ontology: 11 A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities.

Wikipedia: 75 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 488)
# Related Disease Score Top Affiliating Genes
1 exocrine pancreatic insufficiency 32.7 SBDS EIF6 EFL1
2 severe congenital neutropenia 8 32.6 SRP54 SBDS DNAJC21
3 myelodysplastic syndrome 31.8 U2AF1 SBDS RPS14 LUC7L2 EFL1
4 aplastic anemia 31.5 U2AF1 SBDS RPS24 RPS19 RPS17 RPS14
5 pancytopenia 31.5 U2AF1 EFL1 DNAJC21 DKC1
6 deficiency anemia 31.4 U2AF1 RPS19 RPL11 LUC7L2 ERCC6
7 fanconi anemia, complementation group a 30.8 U2AF1 SBDS RPS19 LUC7L2 ERCC6 DKC1
8 diamond-blackfan anemia 30.8 U2AF1 TCOF1 SBDS RPS24 RPS19 RPS17
9 severe congenital neutropenia 30.8 U2AF1 SRPRA SRP54 SRP19 SBDS RPS19
10 diamond-blackfan anemia 1 30.6 RPS24 RPS19 RPS17 RPL5 RPL35A RPL11
11 dyskeratosis congenita 30.2 U2AF1 TCOF1 SBDS RPS24 RPS19 RPS17
12 multiple system atrophy 1 11.0
13 atrial septal defect 1 11.0
14 schizophrenia 1 11.0
15 breast abscess 11.0
16 bone marrow failure syndrome 3 11.0
17 shwachman-diamond syndrome 2 11.0
18 neutropenia, severe congenital, 8, autosomal dominant 11.0
19 isolated growth hormone deficiency, type ia 10.9
20 nanophthalmos 4 10.9
21 isolated growth hormone deficiency, type iv 10.9
22 aphthous stomatitis 10.9
23 neutropenia 10.9
24 leukemia, acute myeloid 10.8
25 acute myeloid leukemia with recurrent genetic anomaly 10.7
26 inherited bone marrow failure syndromes 10.7
27 myeloid leukemia 10.6
28 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.6
29 graft-versus-host disease 10.6
30 dysostosis 10.6
31 osteochondrodysplasia 10.5
32 argyria 10.5
33 pyle disease 10.4
34 metaphyseal dysplasia 10.4
35 lipomatosis 10.4
36 spondylometaphyseal dysplasia, corner fracture type 10.4 SRP54 EFL1 DNAJC21
37 alopecia, neurologic defects, and endocrinopathy syndrome 10.4 U2AF1 SBDS DNAJC21
38 burn-mckeown syndrome 10.4 U2AF1 LUC7L2 ERCC6
39 autosomal dominant severe congenital neutropenia 10.4 SRP54 SBDS DNAJC21
40 mandibulofacial dysostosis, guion-almeida type 10.4 U2AF1 TCOF1 LUC7L2
41 amegakaryocytic thrombocytopenia, congenital 10.4 SBDS RPS19 LUC7L2 DKC1
42 acrofacial dysostosis 1, nager type 10.4 U2AF1 TCOF1 ERCC6
43 acrofacial dysostosis 10.4 U2AF1 TCOF1 ERCC6
44 cyclic neutropenia 10.4
45 type 1 diabetes mellitus 10.4
46 thrombocytopenia 10.4
47 liver disease 10.4
48 hypoglycemia 10.4
49 physical disorder 10.4 U2AF1 RPS19 LUC7L2 ERCC6
50 blood coagulation disease 10.4 U2AF1 LUC7L2 ERCC6

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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

Neoplasia:
myelodysplasia
acute myelogenous leukemia

Skeletal Pelvis:
coxa vara
narrow sacroiliac notch

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

Abdomen Gastrointestinal:
steatorrhea
severe fat maldigestion

Genitourinary Kidneys:
nephrocalcinosis

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 08-Dec-2022)

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

25 (show top 50) (show all 58)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.85 RPL5
2 Increased shRNA abundance (Z-score > 2) GR00366-A-109 10.85 RPL5
3 Increased shRNA abundance (Z-score > 2) GR00366-A-111 10.85 DKC1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.85 ERCC6
5 Increased shRNA abundance (Z-score > 2) GR00366-A-119 10.85 DKC1 RPS17
6 Increased shRNA abundance (Z-score > 2) GR00366-A-12 10.85 ERCC6
7 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.85 U2AF1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-129 10.85 DKC1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10.85 ERCC6
10 Increased shRNA abundance (Z-score > 2) GR00366-A-136 10.85 U2AF1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-137 10.85 ERCC6
12 Increased shRNA abundance (Z-score > 2) GR00366-A-139 10.85 DKC1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-148 10.85 ERCC6
14 Increased shRNA abundance (Z-score > 2) GR00366-A-153 10.85 RPS14 U2AF1 RPL5
15 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.85 ERCC6
16 Increased shRNA abundance (Z-score > 2) GR00366-A-163 10.85 DKC1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10.85 ERCC6
18 Increased shRNA abundance (Z-score > 2) GR00366-A-165 10.85 RPL5
19 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.85 DKC1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-174 10.85 RPS14 RPL5
21 Increased shRNA abundance (Z-score > 2) GR00366-A-180 10.85 DKC1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-189 10.85 RPL5
23 Increased shRNA abundance (Z-score > 2) GR00366-A-198 10.85 DKC1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-2 10.85 ERCC6
25 Increased shRNA abundance (Z-score > 2) GR00366-A-200 10.85 DKC1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-207 10.85 DKC1 RPS17
27 Increased shRNA abundance (Z-score > 2) GR00366-A-208 10.85 ERCC6
28 Increased shRNA abundance (Z-score > 2) GR00366-A-209 10.85 RPS17 ERCC6
29 Increased shRNA abundance (Z-score > 2) GR00366-A-21 10.85 RPL5
30 Increased shRNA abundance (Z-score > 2) GR00366-A-211 10.85 DKC1 RPS14 RPS17 U2AF1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-213 10.85 RPS14 RPS17 RPL5
32 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.85 DKC1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-23 10.85 RPS14
34 Increased shRNA abundance (Z-score > 2) GR00366-A-26 10.85 RPS14 ERCC6 RPL5
35 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10.85 DKC1
36 Increased shRNA abundance (Z-score > 2) GR00366-A-39 10.85 RPL5
37 Increased shRNA abundance (Z-score > 2) GR00366-A-68 10.85 RPS17
38 Increased shRNA abundance (Z-score > 2) GR00366-A-77 10.85 ERCC6
39 Increased shRNA abundance (Z-score > 2) GR00366-A-79 10.85 DKC1
40 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.85 U2AF1
41 Increased shRNA abundance (Z-score > 2) GR00366-A-86 10.85 DKC1
42 Increased shRNA abundance (Z-score > 2) GR00366-A-89 10.85 DKC1 U2AF1
43 Increased shRNA abundance (Z-score > 2) GR00366-A-91 10.85 DKC1 RPS14 RPS17 U2AF1 RPL5
44 Decreased viability GR00106-A-0 10.45 EIF6 RPL5 RPS14 RPS17 RPS19 U2AF1
45 Decreased viability GR00240-S-1 10.45 RPS14
46 Decreased viability GR00249-S 10.45 RPS14 RPS17 RPS19
47 Decreased viability GR00381-A-1 10.45 RPS14 RPS19
48 Decreased viability GR00386-A-1 10.45 RPL5 RPS14 RPS17 RPS19
49 Decreased viability GR00402-S-2 10.45 RPL5 RPS14 RPS17 RPS19 U2AF1
50 no effect GR00402-S-1 10.07 DKC1 EFL1 EIF6 ERCC6 LUC7L2 NMD3

MGI Mouse Phenotypes related to Shwachman-Diamond Syndrome 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.44 DKC1 DNAJC21 EFL1 EIF6 ERCC6 RPL11

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 51)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vidarabine Approved, Investigational Phase 2, Phase 3 24356-66-9 21704
2
Lenograstim Approved, Investigational Phase 2, Phase 3 135968-09-1
3 Antiviral Agents Phase 2, Phase 3
4 Anti-Infective Agents Phase 2, Phase 3
5 Adjuvants, Immunologic Phase 2, Phase 3
6 Antineoplastic Agents, Immunological Phase 2, Phase 3
7
Mycophenolic acid Approved, Investigational Phase 2 24280-93-1 446541
8
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
9
Levoleucovorin Approved, Experimental, Investigational Phase 2 68538-85-2, 58-05-9, 73951-54-9 149436 6006
10
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 4112 126941
11
Tacrolimus Approved, Investigational Phase 2 104987-11-3 6473866 445643
12
Treosulfan Approved, Investigational Phase 2 299-75-2 9296
13
Fludarabine Approved Phase 1, Phase 2 75607-67-9, 21679-14-1 30751 657237
14
Busulfan Approved, Investigational Phase 1, Phase 2 55-98-1 2478
15
Alemtuzumab Approved, Investigational Phase 1, Phase 2 216503-57-0
16
Melphalan Approved Phase 1, Phase 2 148-82-3 4053 460612
17
D-Phenylalanine Approved, Experimental, Investigational, Nutraceutical Phase 2 63-91-2, 673-06-3 6140 71567
18
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
19 Anti-Bacterial Agents Phase 2
20 Antitubercular Agents Phase 2
21 Antibiotics, Antitubercular Phase 2
22 Antirheumatic Agents Phase 2
23 Immunosuppressive Agents Phase 2
24 Alkylating Agents Phase 2
25 Antineoplastic Agents, Alkylating Phase 2
26 Antimetabolites Phase 2
27 Antilymphocyte Serum Phase 2
28 Folic Acid Antagonists Phase 2
29 Folate Phase 2
30 Vitamin B9 Phase 2
31 Calcineurin Inhibitors Phase 2
32 Vitamin B Complex Phase 2
33 Immunoglobulins, Intravenous Phase 2
34 Immunoglobulins Phase 2
35 Thymoglobulin Phase 2
36 Antibodies Phase 2
37 gamma-Globulins Phase 2
38 Rho(D) Immune Globulin Phase 2
39 Vaccines Phase 1, Phase 2
40
Abatacept Approved Phase 1 332348-12-6
41 Immune Checkpoint Inhibitors Phase 1
42 Cyclosporins Phase 1
43
Pancrelipase Approved, Investigational 53608-75-6 8519
44
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
45
Tannic acid Approved 1401-55-4 16129878 16129778
46
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
47
Iron Approved 7439-89-6 29936
48
Alefacept Approved, Investigational, Withdrawn 222535-22-0
49 Pancreatin
50 Immunologic Factors

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 Allogeneic Hematopoietic Stem Cell Transplant for Patients With High Risk Hemoglobinopathy Using a Preparative Regimen to Achieve Stable Mixed Chimerism Completed NCT00176852 Phase 2, Phase 3 Busulfan, Fludarabine, ATG, TLI;Busulfan, Cyclophosphamide, ATG, GCSF;Campath, Fludarabine, Cyclophosphamide
2 Bone Marrow Transplantation for Non-Malignant Congenital Bone Marrow Failure Disorders Completed NCT00176878 Phase 2, Phase 3 Fludarabine monophosphate;Busulfan
3 A Phase II Trial of Reduced Intensity Allogeneic Stem Cell Transplantation With Fludarabine, Melphalan and Low Dose Total Body Irradiation Completed NCT01529827 Phase 2 fludarabine phosphate;melphalan;tacrolimus;mycophenolate mofetil;methotrexate
4 Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes Completed NCT00004787 Phase 2 filgrastim
5 Hematopoietic Cell Transplantation Using Treosulfan-Based Conditioning for the Treatment of Bone Marrow Failure Diseases Recruiting NCT04965597 Phase 2 Treosulfan;Fludarabine Phosphate;Tacrolimus;Methotrexate
6 A Phase II Trial of Haploidentical Allogeneic Stem Cell Transplantation Utilizing Mobilized Peripheral Blood Stem Cells Active, not recruiting NCT03333486 Phase 2 Cyclophosphamide;Fludarabine Phosphate
7 CD34+ Stem Cell Selection for Patients Receiving a Matched or Partially Matched Family or Unrelated Adult Donor Allogeneic Stem Cell Transplantation for Non-Malignant Disease Active, not recruiting NCT01966367 Phase 1, Phase 2
8 Abatacept for Post-Transplant Immune Suppression in Children and Adolescents Receiving Allogeneic Hematopoietic Stem Cell Transplants for Non-Malignant Diseases Completed NCT01917708 Phase 1 Abatacept
9 TCR Vbeta Repertoire and PNH Clones in Children With Refractory Cytopenia (RC). An Open Nonrandomised Multi-Center Prospective Study Completed NCT00499070
10 Endocrine Diabetes Screening in Patients With Shwachman-Diamond Syndrome DIABETES/ ENDOCRINE SURVEILLANCE IN SDS Recruiting NCT04275479
11 Etiologic Investigation of Cancer Susceptibility in Inherited Bone Marrow Failure Syndromes: A Natural History Study Recruiting NCT00027274
12 MT2014-10C: Allogeneic Hematopoietic Stem Cell Transplant for Patients With High Risk Hemoglobinopathies and Other Red Cell Transfusion Dependent Disorders Recruiting NCT02179359 Reduced Toxicity Ablative Regimen;Reduced Intensity Preparative Regimen;Myeloablative Preparative Regimen
13 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-Diamond Syndrome 1 28 DNAJC21 SBDS SRP54
2 Shwachman Syndrome 28 DNAJC21 SBDS SRP54

Anatomical Context for Shwachman-Diamond Syndrome 1

Organs/tissues related to Shwachman-Diamond Syndrome 1:

MalaCards : Bone Marrow, Bone, Pancreas, Myeloid, Skin, Liver, Heart
ODiseA: Blood And Bone Marrow, Kidney

Publications for Shwachman-Diamond Syndrome 1

Articles related to Shwachman-Diamond Syndrome 1:

(show top 50) (show all 600)
# Title Authors PMID Year
1
Mutations in SBDS are associated with Shwachman-Diamond syndrome. 53 62 24 57 5
12496757 2003
2
Hematologic abnormalities in Shwachman Diamond syndrome: lack of genotype-phenotype relationship. 62 24 57 5
15769891 2005
3
Shortfall of exome analysis for diagnosis of Shwachman-Diamond syndrome: Mismapping due to the pseudogene SBDSP1. 62 57 5
32412173 2020
4
Shwachman-Diamond syndrome is associated with structural brain alterations on MRI. 53 62 24 57
18478597 2008
5
Mutations in the SBDS gene in acquired aplastic anemia. 53 62 24 5
17478638 2007
6
Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features. 62 24 5
28972538 2017
7
Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome. 62 24 5
24898207 2014
8
Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry. 62 24 5
24388329 2014
9
Clinical and molecular pathophysiology of Shwachman-Diamond syndrome: an update. 62 24 5
23351992 2013
10
Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome. 62 24 5
22491737 2012
11
Shwachman syndrome as mutator phenotype responsible for myeloid dysplasia/neoplasia through karyotype instability and chromosomes 7 and 20 anomalies. 62 24 57
16382447 2006
12
Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond Syndrome. 62 24 5
15701631 2005
13
Does isochromosome 7q mandate bone marrow transplant in children with Shwachman-Diamond syndrome? 62 24 57
12472589 2002
14
Shwachman-diamond syndrome. 62 24 57
12181037 2002
15
Serum pancreatic enzymes define the pancreatic phenotype in patients with Shwachman-Diamond syndrome. 62 24 57
12183724 2002
16
Immune function in patients with Shwachman-Diamond syndrome. 62 24 57
11553003 2001
17
Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7. 62 24 57
11254457 2001
18
Shwachman-Diamond syndrome: An inherited preleukemic bone marrow failure disorder with aberrant hematopoietic progenitors and faulty marrow microenvironment. 62 24 57
10556188 1999
19
Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar. 62 24 57
10393609 1999
20
Shwachman syndrome: exocrine pancreatic dysfunction and variable phenotypic expression. 62 24 57
8942739 1996
21
Haematological abnormalities in Shwachman-Diamond syndrome. 62 24 57
8759887 1996
22
Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome. 53 62 57
18324336 2008
23
Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome. 53 62 5
15284109 2004
24
Congenital aplastic anemia caused by mutations in the SBDS gene: a rare presentation of Shwachman-Diamond syndrome. 53 62 5
15342903 2004
25
Shwachman's syndrome: pathomorphosis and long-term outcome. 24 57
10467990 1999
26
Unusual surface distribution of concanavalin A reflects a cytoskeletal defect in neutrophils in Shwachman's syndrome. 24 57
6181360 1982
27
mTOR and STAT3 Pathway Hyper-Activation is Associated with Elevated Interleukin-6 Levels in Patients with Shwachman-Diamond Syndrome: Further Evidence of Lymphoid Lineage Impairment. 62 5
32150944 2020
28
TGFβ signaling underlies hematopoietic dysfunction and bone marrow failure in Shwachman-Diamond Syndrome. 62 57
31211692 2019
29
Association of isochromosome (7)(q10) in Shwachman-Diamond syndrome with the severity of cytopenia. 62 5
29375851 2018
30
The Greek Registry of Shwachman Diamond-Syndrome: Molecular and clinical data. 62 5
28509441 2017
31
Shwachman-Diamond syndrome (SDS) in a preterm neonate. 62 5
26081292 2015
32
Mechanism of eIF6 release from the nascent 60S ribosomal subunit. 62 5
26479198 2015
33
Two cases of Shwachman-Diamond syndrome in adolescents confirmed by genetic analysis. 62 5
25729736 2015
34
Diffuse alterations in grey and white matter associated with cognitive impairment in Shwachman-Diamond syndrome: evidence from a multimodal approach. 62 5
25844324 2015
35
Young-age-onset pancreatoduodenal carcinoma in Shwachman-Diamond syndrome. 62 5
24629175 2014
36
Shwachman-Diamond syndrome: diarrhea, no longer required? 62 5
22935661 2013
37
Acquired copy number neutral loss of heterozygosity of chromosome 7 associated with clonal haematopoiesis in a patient with Shwachman-Diamond syndrome. 62 5
22934832 2012
38
Altered intracellular localization and mobility of SBDS protein upon mutation in Shwachman-Diamond syndrome. 62 5
21695142 2011
39
The isochromosome i(7)(q10) carrying c.258+2t>c mutation of the SBDS gene does not promote development of myeloid malignancies in patients with Shwachman syndrome. 62 5
19148133 2009
40
Shwachman-Diamond Syndrome 62 5
20301722 2008
41
Hematologically important mutations: Shwachman-Diamond syndrome. 62 5
17916435 2008
42
Magnetic resonance imaging findings of the pancreas in patients with Shwachman-Diamond syndrome and mutations in the SBDS gene. 53 62 24
18280855 2008
43
The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA. 53 62 24
17475909 2007
44
Identification of a novel AluSx-mediated deletion of exon 3 in the SBDS gene in a patient with Shwachman-Diamond syndrome. 53 62 24
17376717 2007
45
Severe Shwachman-Diamond syndrome phenotype caused by compound heterozygous missense mutations in the SBDS gene. 53 62 24
17046571 2006
46
Loss of the mouse ortholog of the shwachman-diamond syndrome gene (Sbds) results in early embryonic lethality. 53 62 24
16914746 2006
47
Shwachman-Diamond syndrome: an inherited model of aplastic anaemia with accelerated angiogenesis. 62 57
16681645 2006
48
The Shwachman-Diamond SBDS protein localizes to the nucleolus. 62 5
15860664 2005
49
Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome. 62 5
14749921 2004
50
Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS. 53 62 24
14984468 2004

Variations for Shwachman-Diamond Syndrome 1

ClinVar genetic disease variations for Shwachman-Diamond Syndrome 1:

5 (show all 37)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SBDS NM_016038.4(SBDS):c.98A>C (p.Lys33Thr) SNV Pathogenic
219289 rs373730800 GRCh37: 7:66460307-66460307
GRCh38: 7:66995320-66995320
2 SRP54 NM_003136.4(SRP54):c.343A>G (p.Thr115Ala) SNV Pathogenic
430851 rs1555354200 GRCh37: 14:35476576-35476576
GRCh38: 14:35007370-35007370
3 SRP54 NM_003136.4(SRP54):c.677G>A (p.Gly226Glu) SNV Pathogenic
430850 rs1555354750 GRCh37: 14:35482592-35482592
GRCh38: 14:35013386-35013386
4 SBDS NM_016038.4(SBDS):c.18del (p.Thr7fs) DEL Pathogenic
807486 rs1584439050 GRCh37: 7:66460387-66460387
GRCh38: 7:66995400-66995400
5 SRP19 NM_003135.3(SRP19):c.189+5G>A SNV Pathogenic
810839 rs1322282571 GRCh37: 5:112200230-112200230
GRCh38: 5:112864533-112864533
6 SRPRA NM_003139.4(SRPRA):c.1390C>G (p.Gln464Glu) SNV Pathogenic
810840 rs1950780024 GRCh37: 11:126134989-126134989
GRCh38: 11:126265094-126265094
7 SRP54 NM_003136.4(SRP54):c.343ACA[2] (p.Thr117del) MICROSAT Pathogenic
430852 rs1555354198 GRCh37: 14:35476575-35476577
GRCh38: 14:35007369-35007371
8 SBDS NM_016038.4(SBDS):c.101dup (p.Asn34fs) DUP Pathogenic
3198 GRCh37: 7:66460303-66460304
GRCh38: 7:66995316-66995317
9 SBDS NM_016038.4(SBDS):c.183_184delinsCT (p.Lys62Ter) INDEL Pathogenic
3195 rs113993991 GRCh37: 7:66459273-66459274
GRCh38: 7:66994286-66994287
10 SBDS NM_016038.4(SBDS):c.258+2T>C SNV Pathogenic
Pathogenic
Pathogenic/Likely Pathogenic
3196 rs113993993 GRCh37: 7:66459197-66459197
GRCh38: 7:66994210-66994210
11 SBDS NM_016038.4(SBDS):c.258+1G>C SNV Pathogenic
Pathogenic
21538 rs113993992 GRCh37: 7:66459198-66459198
GRCh38: 7:66994211-66994211
12 SBDS NM_016038.2(SBDS):c.625-1delG DEL Pathogenic
1033391 rs1792914342 GRCh37: 7:66453486-66453486
GRCh38: 7:66988499-66988499
13 SBDS NM_016038.4(SBDS):c.460-1G>A SNV Pathogenic
929404 rs1792969582 GRCh37: 7:66456289-66456289
GRCh38: 7:66991302-66991302
14 SBDS NM_016038.4(SBDS):c.184A>T (p.Lys62Ter) SNV Pathogenic/Likely Pathogenic
449095 rs120074160 GRCh37: 7:66459273-66459273
GRCh38: 7:66994286-66994286
15 SBDS NM_016038.4(SBDS):c.305_308del (p.Thr102fs) MICROSAT Likely Pathogenic
1325034 GRCh37: 7:66458355-66458358
GRCh38: 7:66993368-66993371
16 SBDS NM_016038.4(SBDS):c.653G>A (p.Arg218Gln) SNV Likely Pathogenic
1328553 GRCh37: 7:66453458-66453458
GRCh38: 7:66988471-66988471
17 SBDS NM_016038.4(SBDS):c.629G>A (p.Cys210Tyr) SNV Likely Pathogenic
1339526 GRCh37: 7:66453482-66453482
GRCh38: 7:66988495-66988495
18 SBDS NM_016038.4(SBDS):c.388G>A (p.Val130Met) SNV Likely Pathogenic
372498 rs201070132 GRCh37: 7:66458275-66458275
GRCh38: 7:66993288-66993288
19 SBDS NM_016038.4(SBDS):c.167T>C (p.Val56Ala) SNV Likely Pathogenic
807485 rs1584437592 GRCh37: 7:66459290-66459290
GRCh38: 7:66994303-66994303
20 DNAJC21 NM_001012339.3(DNAJC21):c.983+1G>A SNV Likely Pathogenic
222066 rs368148362 GRCh37: 5:34941289-34941289
GRCh38: 5:34941184-34941184
21 SBDS NM_016038.4(SBDS):c.505C>T (p.Arg169Cys) SNV Uncertain Significance
21541 rs113993996 GRCh37: 7:66456243-66456243
GRCh38: 7:66991256-66991256
22 SBDS NM_016038.4(SBDS):c.523C>T (p.Arg175Trp) SNV Uncertain Significance
418467 rs774976459 GRCh37: 7:66456225-66456225
GRCh38: 7:66991238-66991238
23 SBDS NM_016038.4(SBDS):c.173T>C (p.Val58Ala) SNV Uncertain Significance
1675126 GRCh37: 7:66459284-66459284
GRCh38: 7:66994297-66994297
24 SBDS NM_016038.4(SBDS):c.326G>C (p.Arg109Thr) SNV Uncertain Significance
1327083 GRCh37: 7:66458337-66458337
GRCh38: 7:66993350-66993350
25 SBDS NM_016038.4(SBDS):c.131A>G (p.Glu44Gly) SNV Uncertain Significance
549499 rs1554341516 GRCh37: 7:66459326-66459326
GRCh38: 7:66994339-66994339
26 SBDS NM_016038.4(SBDS):c.199A>G (p.Lys67Glu) SNV Uncertain Significance
549500 rs1554341499 GRCh37: 7:66459258-66459258
GRCh38: 7:66994271-66994271
27 SBDS NM_016038.4(SBDS):c.260T>G (p.Ile87Ser) SNV Uncertain Significance
549502 rs1554341363 GRCh37: 7:66458403-66458403
GRCh38: 7:66993416-66993416
28 SBDS NM_016038.4(SBDS):c.24C>A (p.Asn8Lys) SNV Uncertain Significance
3197 rs28942099 GRCh37: 7:66460381-66460381
GRCh38: 7:66995394-66995394
29 SBDS NM_016038.4(SBDS):c.635T>C (p.Ile212Thr) SNV Benign/Likely Benign
21543 rs79344818 GRCh37: 7:66453476-66453476
GRCh38: 7:66988489-66988489
30 SBDS NM_016038.4(SBDS):c.201A>G (p.Lys67=) SNV Benign
21537 rs1061695 GRCh37: 7:66459256-66459256
GRCh38: 7:66994269-66994269
31 SBDS NM_016038.4(SBDS):c.141C>T (p.Leu47=) SNV Benign
21536 rs113993989 GRCh37: 7:66459316-66459316
GRCh38: 7:66994329-66994329
32 SBDS NM_016038.4(SBDS):c.652C>T (p.Arg218Ter) SNV Not Provided
21545 rs113993998 GRCh37: 7:66453459-66453459
GRCh38: 7:66988472-66988472
33 SBDS NM_016038.4(SBDS):c.624+1G>C SNV Not Provided
21542 rs113993997 GRCh37: 7:66456123-66456123
GRCh38: 7:66991136-66991136
34 SBDS NM_016038.4(SBDS):c.377G>C (p.Arg126Thr) SNV Not Provided
21540 rs113993995 GRCh37: 7:66458286-66458286
GRCh38: 7:66993299-66993299
35 SBDS NM_016038.4(SBDS):c.297_300del (p.Glu99fs) MICROSAT Not Provided
21539 rs113993994 GRCh37: 7:66458363-66458366
GRCh38: 7:66993376-66993379
36 SBDS NM_016038.4(SBDS):c.120del (p.Ser41fs) DEL Not Provided
265256 rs113993990 GRCh37: 7:66460285-66460285
GRCh38: 7:66995298-66995298
37 SBDS NM_016038.4(SBDS):c.651C>T (p.Phe217=) SNV Not Provided
21544 rs73151675 GRCh37: 7:66453460-66453460
GRCh38: 7:66988473-66988473

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:

6
# 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 GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.73 SRPRA SRP54 SRP19 RPS24 RPS19 RPS17
2
Show member pathways
13.45 RPL11 RPL35A RPL5 RPS14 RPS17 RPS19
3
Show member pathways
13.24 SRPRA RPS24 RPS19 RPS17 RPS14 RPL5
4
Show member pathways
13.05 DKC1 RPL11 RPL35A RPL5 RPS14 RPS17
5
Show member pathways
12.75 RPS24 RPS19 RPS17 RPS14 RPL5 RPL35A
6
Show member pathways
12.37 RPS24 RPS19 RPS17 RPS14 RPL5 RPL35A
7
Show member pathways
12.28 RPS24 RPS19 RPS17 RPS14
8
Show member pathways
12.14 RPS24 RPS19 RPS17 RPS14
9
Show member pathways
12.05 U2AF1 RPL5 RPL11 EIF6
10
Show member pathways
11.64 RPS24 RPS19 RPS17 RPS14 RPL5 RPL35A
11
Show member pathways
11.5 RPS24 RPS19 RPS17 RPS14
12 11.15 SBDS EIF6 EFL1

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 10.51 DKC1 EIF6 ERCC6 LUC7L2 NMD3 RPL11
2 nucleolus GO:0005730 10.25 DKC1 DNAJC21 EIF6 ERCC6 NMD3 RPL11
3 ribosome GO:0005840 10 DNAJC21 RPL11 RPL35A RPL5 RPS14 RPS17
4 cytosolic small ribosomal subunit GO:0022627 9.92 RPS24 RPS19 RPS17 RPS14
5 cytosolic large ribosomal subunit GO:0022625 9.91 RPL5 RPL35A RPL11
6 cytosolic ribosome GO:0022626 9.8 RPS24 RPS19 RPS17 RPS14 RPL5 RPL35A
7 signal recognition particle GO:0048500 9.58 SRP54 SRP19
8 ribonucleoprotein complex GO:1990904 9.44 SRP54 SRP19 RPS24 RPS19 RPS17 RPS14

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 translation GO:0006412 10.06 EFL1 EIF6 RPL11 RPL35A RPL5 RPS14
2 ribosomal small subunit biogenesis GO:0042274 9.91 RPS24 RPS19 RPS17
3 ribosomal large subunit biogenesis GO:0042273 9.87 RPL5 RPL35A RPL11 EIF6
4 negative regulation of ubiquitin protein ligase activity GO:1904667 9.81 RPL5 RPL11
5 erythrocyte homeostasis GO:0034101 9.8 RPS24 RPS17
6 cytoplasmic translation GO:0002181 9.8 RPS24 RPS19 RPS17 RPS14 RPL5 RPL35A
7 cotranslational protein targeting to membrane GO:0006613 9.78 SRPRA SRP19
8 negative regulation of protein neddylation GO:2000435 9.76 RPL5 RPL11
9 cytosolic ribosome assembly GO:0042256 9.73 SBDS EIF6 EFL1
10 ribosome biogenesis GO:0042254 9.71 DKC1 EFL1 EIF6 SBDS
11 SRP-dependent cotranslational protein targeting to membrane GO:0006614 9.67 SRPRA SRP54 SRP19
12 rRNA processing GO:0006364 9.53 SBDS RPS24 RPS19 RPS17 RPL5 RPL35A

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 9.85 DKC1 DNAJC21 LUC7L2 NMD3 RPL11 RPL35A
2 structural constituent of ribosome GO:0003735 9.8 RPL11 RPL35A RPL5 RPS14 RPS17 RPS19
3 ribosome binding GO:0043022 9.76 SRP19 SBDS EIF6 EFL1
4 5S rRNA binding GO:0008097 9.71 RPL5 RPL11
5 ubiquitin ligase inhibitor activity GO:1990948 9.67 RPL5 RPL11
6 7S RNA binding GO:0008312 9.62 SRP54 SRP19
7 rRNA binding GO:0019843 9.56 SBDS RPL5 RPL11

Sources for Shwachman-Diamond Syndrome 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....