MCID: DMN001
MIFTS: 70

Diamond-Blackfan Anemia

Categories: Blood diseases, Bone diseases, Fetal diseases, Genetic diseases, Immune diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Diamond-Blackfan Anemia

MalaCards integrated aliases for Diamond-Blackfan Anemia:

Name: Diamond-Blackfan Anemia 39 12 77 25 54 26 38 30 56 6 15
Congenital Pure Red Cell Aplasia 54 26 60 56
Anemia, Diamond-Blackfan 77 45 41 74
Aase Syndrome 54 26 60 74
Erythrogenesis Imperfecta 54 26 74
Congenital Hypoplastic Anemia, Blackfan-Diamond Type 54 60
Congenital Hypoplastic Anemia 54 74
Blackfan-Diamond Anemia 54 60
Aase-Smith Ii Syndrome 54 60
Congenital Prca 54 60
Dba 54 26
Bds 54 26
Congenital Hypoplastic Anemia of Blackfan and Diamond 26
Chronic Constitutional Pure Red Cell Anaemia 12
Anemia Congenital Erythroid Hypoplastic 54
Aregenerative Anemia Chronic Congenital 54
Congenital Erythroid Hypoplastic Anemia 26
Chronic Congenital Agenerative Anemia 26
Red Cell Aplasia, Pure Hereditary 54
Pure Hereditary Red Cell Aplasia 26
Congenital Pure Red Cell Anemia 26
Hypoplastic Congenital Anemia 26
Anemia Hypoplastic Congenital 56
Anemia Diamond Blackfan Type 54
Inherited Erythroblastopenia 26
Blackfan - Diamond Syndrome 12
Diamond-Blackfan Anemia 1 74
Blackfan-Diamond Syndrome 26
Blackfan Diamond Syndrome 54
Blackfan-Diamond Disease 26
Blackfan Diamond Anemia 26
Aase-Smith Syndrome Ii 26
Aase Smith Syndrome 2 74
Bda 26

Characteristics:

Orphanet epidemiological data:

60
blackfan-diamond anemia
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood,Infancy,Neonatal; Age of death: any age;

GeneReviews:

25
Penetrance Penetrance is incomplete...

Classifications:



External Ids:

Disease Ontology 12 DOID:1339
KEGG 38 H00237
MeSH 45 D029503
NCIt 51 C61236
SNOMED-CT 69 88854002
ICD10 34 D61.01
MESH via Orphanet 46 D029503
ICD10 via Orphanet 35 D61.0
UMLS via Orphanet 75 C1260899 C2931850
Orphanet 60 ORPHA124

Summaries for Diamond-Blackfan Anemia

NIH Rare Diseases : 54 Diamond-Blackfan anemia is an inheritedblood disorder that affects the ability of the bone marrow to produce red blood cells. Symptoms may include a shortage of red blood cells (anemia), physical abnormalities  such as small head size (microcephaly) characteristic  facial features, cleft palate, cleft lip, short and webbed neck, small shoulder blades, and defects of the hands (mostly of the thumbs), as well as defects of the genitalia, urinary tract, eyes and heart. In some cases there is also short stature. Diamond-Blackfan anemia is caused by  mutations in several genes, some of which have been identified and some of which have not. Identified genes include but are not limited to: RPS19, RPL5,  RPS10, RPL11, RPL35A, RPS7, RPS17, RPS24,  RPS26 and GATA1 genes. Different subtypes exist and are divided based on the specific gene mutated; however, they have similar features. Patients with mutations in the RPL5 gene have more serious symptoms and about 45% have cleft palate and are smaller than average size. Patients with mutations in the RPL11 gene have thumb anomalies more frequently than people with the other types. Mutations in the GATA1 gene are associated with severe anemia. Most cases are isolated, but about 45% of people with Diamond-Blackfan anemia inherit this condition from a parent. Inheritance is typically autosomal dominant , but can rarely be X-linked. Treatment may involve corticosteroids, blood transfusions, a bone marrow transplant or stem cell transplantation. The severity of the disease is very varied. People with Diamond-Blackfan anemia may have an increased risk of having diseases related to a bone marrow defect, such as myelodysplastic syndrome, and certain cancers. Adults with the disease may have hormonal problems in later life, specially adrenal insufficiency, hypogonadism and hypothyroidism. 

MalaCards based summary : Diamond-Blackfan Anemia, also known as congenital pure red cell aplasia, is related to diamond-blackfan anemia 1 and diamond-blackfan anemia 15 with mandibulofacial dysostosis. An important gene associated with Diamond-Blackfan Anemia is RPS19 (Ribosomal Protein S19), and among its related pathways/superpathways are Ribosome and Metabolism. The drugs Iron and Deferasirox have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and heart, and related phenotypes are arrhythmia and pallor

Disease Ontology : 12 A congenital hypoplastic anemia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has material basis insufficient levels of red blood cells due to bone marrow dysfunction.

Genetics Home Reference : 26 Diamond-Blackfan anemia is a disorder that primarily affects the bone marrow. People with this condition often also have physical abnormalities affecting various parts of the body.

Wikipedia : 77 Diamond–Blackfan anemia (DBA) is a congenital erythroid aplasia that usually presents in infancy. DBA... more...

GeneReviews: NBK7047

Related Diseases for Diamond-Blackfan Anemia

Diseases in the Diamond-Blackfan Anemia family:

Diamond-Blackfan Anemia 1 Diamond-Blackfan Anemia 2
Diamond-Blackfan Anemia 3 Diamond-Blackfan Anemia 4
Diamond-Blackfan Anemia 5 Diamond-Blackfan Anemia 6
Diamond-Blackfan Anemia 7 Diamond-Blackfan Anemia 8
Diamond-Blackfan Anemia 9 Diamond-Blackfan Anemia 10
Diamond-Blackfan Anemia 11 Diamond-Blackfan Anemia 12
Diamond-Blackfan Anemia 13 Diamond-Blackfan Anemia 16
Diamond-Blackfan Anemia 17 Diamond-Blackfan Anemia-Like
Diamond-Blackfan Anemia 18 Diamond-Blackfan Anemia 19
Diamond-Blackfan Anemia 20

Diseases related to Diamond-Blackfan Anemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 190)
# Related Disease Score Top Affiliating Genes
1 diamond-blackfan anemia 1 35.2 RPL5 RPS19
2 diamond-blackfan anemia 15 with mandibulofacial dysostosis 34.9 RPS26 RPS28 TSR2
3 congenital hypoplastic anemia 33.3 RPL11 RPL35A RPL5 RPS17 RPS19
4 pierre robin syndrome 30.8 RPL26 RPL27 RPL35A RPL5 RPS10 RPS19
5 aplastic anemia 30.6 GATA1 RPL5 RPS17 RPS19 TP53
6 macrocytic anemia 30.5 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
7 diamond-blackfan anemia 10 13.0
8 diamond-blackfan anemia 4 13.0
9 diamond-blackfan anemia 3 13.0
10 diamond-blackfan anemia 8 13.0
11 diamond-blackfan anemia 5 13.0
12 diamond-blackfan anemia 6 13.0
13 diamond-blackfan anemia 7 13.0
14 diamond-blackfan anemia 9 13.0
15 diamond-blackfan anemia 11 13.0
16 diamond-blackfan anemia 12 13.0
17 diamond-blackfan anemia 13 13.0
18 diamond-blackfan anemia 14 with mandibulofacial dysostosis 13.0
19 diamond-blackfan anemia 20 13.0
20 diamond-blackfan anemia 16 12.9
21 diamond-blackfan anemia 17 12.9
22 diamond-blackfan anemia 18 12.8
23 diamond-blackfan anemia 19 12.8
24 diamond-blackfan anemia 2 12.8
25 diamond-blackfan anemia-like 12.8
26 behcet syndrome 11.8
27 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 11.8
28 vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome 11.5
29 binswanger's disease 11.4
30 subcortical arteriosclerotic encephalopathy 11.4
31 dementia - subcortical 11.4
32 intellectual disability - athetosis - microphthalmia 11.4
33 boomerang dysplasia 11.4
34 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech 11.3
35 aase-smith syndrome i 11.3
36 brody myopathy 11.2
37 fanconi anemia, complementation group a 11.1
38 facio skeletal genital syndrome rippberger type 11.1
39 brachydactyly, type e1 11.1
40 bipolar i disorder 11.1
41 deficiency anemia 11.0
42 lymphatic malformation 7 10.6
43 fetal edema 10.6
44 hydrops fetalis 10.6
45 hematopoietic stem cell transplantation 10.6
46 bipolar disorder 10.5
47 cleft palate, isolated 10.5
48 chromosome 5q deletion syndrome 10.5
49 osteogenic sarcoma 10.5
50 sarcoma 10.5

Graphical network of the top 20 diseases related to Diamond-Blackfan Anemia:



Diseases related to Diamond-Blackfan Anemia

Symptoms & Phenotypes for Diamond-Blackfan Anemia

Human phenotypes related to Diamond-Blackfan Anemia:

60 33 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arrhythmia 60 33 hallmark (90%) Very frequent (99-80%) HP:0011675
2 pallor 60 33 hallmark (90%) Very frequent (99-80%) HP:0000980
3 delayed puberty 60 33 frequent (33%) Frequent (79-30%) HP:0000823
4 fatigue 60 33 frequent (33%) Frequent (79-30%) HP:0012378
5 cleft palate 60 33 frequent (33%) Frequent (79-30%) HP:0000175
6 migraine 60 33 frequent (33%) Frequent (79-30%) HP:0002076
7 abnormality of the hand 60 33 frequent (33%) Frequent (79-30%) HP:0001155
8 abnormality of the genital system 60 33 frequent (33%) Frequent (79-30%) HP:0000078
9 abnormality of the urinary system 60 33 frequent (33%) Frequent (79-30%) HP:0000079
10 macrocytic anemia 60 33 frequent (33%) Frequent (79-30%) HP:0001972
11 short nose 60 33 occasional (7.5%) Occasional (29-5%) HP:0003196
12 short stature 60 33 occasional (7.5%) Occasional (29-5%) HP:0004322
13 thick lower lip vermilion 60 33 occasional (7.5%) Occasional (29-5%) HP:0000179
14 depressed nasal ridge 60 33 occasional (7.5%) Occasional (29-5%) HP:0000457
15 acute leukemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002488
16 anemia 60 Very frequent (99-80%)
17 neoplasm 60 Occasional (29-5%)
18 growth delay 60 Very frequent (99-80%)

GenomeRNAi Phenotypes related to Diamond-Blackfan Anemia according to GeneCards Suite gene sharing:

27 (show all 39)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-1 10.92 RPS19
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 10.92 RPS29
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 10.92 RPS15A RPS17 RPS19 RPS29
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 10.92 RPS29
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 10.92 RPS17
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 10.92 RPS15A
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-160 10.92 RPS29
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 10.92 RPS17 RPS19 RPS29
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 10.92 RPS15A RPS19
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 10.92 RPS19
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 10.92 RPS15A RPS17
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-209 10.92 RPS17 RPS19
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 10.92 RPS17
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 10.92 RPS15A RPS17
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 10.92 RPS17
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 10.92 RPS15A
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 10.92 RPS15A
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 10.92 RPS15A RPS17
19 Decreased viability GR00106-A-0 10.89 RPS19 RPL5 RPS15A RPS17 RPS29 RPS7
20 Decreased viability GR00240-S-1 10.89 GATA1 RPL15 RPL26 RPS28 TP53
21 Decreased viability GR00381-A-1 10.89 RPL15 RPS28 RPL11 RPL18 RPL27 RPL35A
22 Decreased viability GR00402-S-2 10.89 GATA1 RPL15 RPL26 RPS28 TP53 RPL11
23 Decreased cell number GR00098-A-1 10.73 RPL11 RPL5 RPS19 RPS29 GATA1 RPL15
24 Decreased cell number GR00303-A 10.73 RPL11 RPL35 RPL5 RPS19 RPS29
25 no effect GR00402-S-1 10.56 GATA1 RPL11 RPL15 RPL18 RPL26 RPL27
26 Decreased NF-kappaB reporter expression GR00312-A 10.45 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35
27 FOXO1 nuclear localization GR00247-A-1 10.38 RPL11 RPL15 RPS24 RPS7
28 FOXO1 nuclear localization GR00247-A-2 10.38 RPL11 RPL15 RPS24 RPS7
29 Increased vaccinia virus (VACV) infection GR00249-S 10.38 GATA1 RPL11 RPL15 RPL18 RPL26 RPL27
30 Decreased viability of wild-type and TP53 knockout cells GR00196-A-1 10.32 RPL11 RPL15 RPL18 RPL35 RPL35A RPL5
31 Increased viability GR00386-A-1 10.24 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35A
32 G0/1 arrest GR00098-A-2 10.11 RPL11 RPL18 RPL27 RPL35A RPS19 RPS24
33 Decreased Hepatitis C virus replication GR00180-A-1 10.1 RPS15A RPS19 RPS24 RPS26 RPS28 RPS29
34 Negative genetic interaction between KRASG13D/+ and KRAS+/- GR00255-A-5 10.02 RPL11 RPL15 RPL27 RPL35 RPL35A RPS15A
35 HIV Rev nuclear localization GR00247-A-3 9.73 RPL11 RPL15 RPS24 RPS7
36 Decreased viability with SS1P at EC30 GR00376-A-2 9.67 RPL11 RPS15A RPS28
37 Nuclear 40S maturation defects GR00209-A-2 9.63 RPL11 RPS10 RPS17 RPS26 RPS28 RPS29
38 Nuclear 60S biogenesis defects GR00209-A-3 9.5 RPL11 RPL18 RPL26 RPL27 RPL35 RPL35A
39 Nucleolar pre-40S maturation defects GR00209-A-1 9.47 RPL11 RPL18 RPL26 RPL27 RPL35 RPL35A

Drugs & Therapeutics for Diamond-Blackfan Anemia

Drugs for Diamond-Blackfan Anemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 93)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved, Experimental Phase 4,Phase 3,Phase 2,Not Applicable 7439-89-6, 15438-31-0 27284 23925
2
Deferasirox Approved, Investigational Phase 4,Phase 3,Phase 2 201530-41-8 5493381
3 Liver Extracts Phase 4,Phase 2,Phase 1
4 Iron Chelating Agents Phase 4,Phase 3,Phase 2
5 Nutrients Phase 4,Phase 3,Phase 2
6 Chelating Agents Phase 4,Phase 3,Phase 2
7 Trace Elements Phase 4,Phase 3,Phase 2
8 Micronutrients Phase 4,Phase 3,Phase 2
9
Vidarabine Approved, Investigational Phase 2, Phase 3,Phase 3,Early Phase 1 24356-66-9 21704 32326
10
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1 55-98-1 2478
11
Fludarabine Approved Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1 75607-67-9, 21679-14-1 30751
12 Orange Approved Phase 3
13
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 1,Not Applicable,Early Phase 1 50-18-0, 6055-19-2 2907
14
Lenograstim Approved, Investigational Phase 2, Phase 3,Not Applicable 135968-09-1
15
alemtuzumab Approved, Investigational Phase 2, Phase 3,Phase 1,Early Phase 1,Not Applicable 216503-57-0
16
Sargramostim Approved, Investigational Phase 2, Phase 3 123774-72-1, 83869-56-1
17 Antilymphocyte Serum Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
18 Alkylating Agents Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
19 Antimetabolites, Antineoplastic Phase 2, Phase 3,Phase 3,Phase 1,Early Phase 1
20 Immunologic Factors Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
21 Immunosuppressive Agents Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
22 Antimetabolites Phase 2, Phase 3,Phase 3,Phase 1,Early Phase 1
23 Anti-Infective Agents Phase 2, Phase 3,Phase 3,Phase 1,Early Phase 1,Not Applicable
24 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
25 Antiviral Agents Phase 2, Phase 3,Phase 3,Early Phase 1
26 Adjuvants, Immunologic Phase 2, Phase 3
27 Antineoplastic Agents, Immunological Phase 2, Phase 3,Phase 1
28 Antirheumatic Agents Phase 2, Phase 3,Phase 1,Not Applicable,Early Phase 1
29
rituximab Approved Phase 2,Phase 1,Not Applicable 174722-31-7 10201696
30
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1,Not Applicable 22916-47-8 4189
31
leucovorin Approved Phase 2 58-05-9 143 6006
32
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
33
Prednisolone Approved, Vet_approved Phase 2,Phase 1,Not Applicable 50-24-8 5755
34
Prednisolone phosphate Approved, Vet_approved Phase 2,Phase 1,Not Applicable 302-25-0
35
Methylprednisolone hemisuccinate Approved Phase 2,Phase 1,Not Applicable 2921-57-5
36
Methylprednisolone Approved, Vet_approved Phase 2,Phase 1,Not Applicable 83-43-2 6741
37
Deferoxamine Approved, Investigational Phase 2 70-51-9 2973
38
Deferiprone Approved Phase 2 30652-11-0 2972
39
Thiotepa Approved, Investigational Phase 1, Phase 2,Phase 2,Not Applicable 52-24-4 5453
40
Hydroxyurea Approved Phase 1, Phase 2,Phase 2 127-07-1 3657
41
Melphalan Approved Phase 1, Phase 2,Phase 2,Not Applicable,Early Phase 1 148-82-3 460612 4053
42
Mycophenolic acid Approved Phase 2,Phase 1,Not Applicable 24280-93-1 446541
43
Sirolimus Approved, Investigational Phase 1, Phase 2,Phase 2 53123-88-9 46835353 5284616 6436030
44
Tacrolimus Approved, Investigational Phase 1, Phase 2,Phase 2 104987-11-3 6473866 445643 439492
45
Everolimus Approved Phase 1, Phase 2 159351-69-6 70789204 6442177
46
Prednisone Approved, Vet_approved Phase 1, Phase 2 53-03-2 5865
47
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
48
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
49
Prednisolone hemisuccinate Experimental Phase 2,Phase 1,Not Applicable 2920-86-7
50
Emodepside Investigational, Vet_approved Phase 2 155030-63-0

Interventional clinical trials:

(show top 50) (show all 53)
# Name Status NCT ID Phase Drugs
1 Magnetic Resonance Imaging (MRI) Assessments of the Heart and Liver Iron Load in Patients With Transfusion Induced Iron Overload Completed NCT00673608 Phase 4 deferasirox
2 Stem Cell Transplant for Bone Marrow Failure Syndromes Completed NCT00176878 Phase 2, Phase 3 Fludarabine monophosphate;Busulfan
3 Expanded Access of Deferasirox to Patients With Congenital Disorders of Red Blood Cells and Chronic Iron Overload Completed NCT00235391 Phase 3 Deferasirox
4 A Study Assessing the Efficacy and Safety of Deferasirox in Patients With Transfusion-dependent Iron Overload Completed NCT00171821 Phase 3 Deferasirox
5 Stem Cell Transplant for Hemoglobinopathy Active, not recruiting NCT00176852 Phase 2, Phase 3 Busulfan, Fludarabine, ATG, TLI;Busulfan, Cyclophosphamide, ATG, GCSF;Campath, Fludarabine, Cyclophosphamide
6 L-leucine in Diamond Blackfan Anemia Patients Unknown status NCT02386267 Phase 2 L-leucine
7 Mobilization of Stem Cells With G-CSF for Collection From Patients With Diamond-Blackfan Anemia Completed NCT00011505 Phase 2 G-CSF
8 Rituximab to Treat Moderate Aplastic Anemia, Pure Red Cell Aplasia, or Diamond Blackfan Anemia Completed NCT00229619 Phase 2 Rituximab
9 Medical Treatment for Diamond Blackfan Anemia Completed NCT00001749 Phase 2 Antithymocyte globulin;Cyclosporine
10 Allogeneic Bone Marrow Transplantation for the Treatment of Genetic Disorders of Erythropoiesis Completed NCT00578435 Phase 2
11 Allo-HCT MUD for Non-malignant Red Blood Cell (RBC) Disorders: Sickle Cell, Thal, and DBA: Reduced Intensity Conditioning, Co-tx MSCs Completed NCT00957931 Phase 2
12 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
13 Alemtuzumab, Fludarabine, and Busulfan Followed By Donor Stem Cell Transplant in Treating Young Patients With Hematologic Disorders Completed NCT00301834 Phase 2 busulfan;cyclosporine;fludarabine phosphate;methotrexate;methylprednisolone
14 Study of Deferasirox in Iron Overload From Beta-thalassemia Unable to be Treated With Deferoxamine or Chronic Anemias Completed NCT00061763 Phase 2 Deferasirox
15 Busulfan, Antithymocyte Globulin, and Fludarabine Followed By a Donor Stem Cell Transplant in Treating Young Patients With Blood Disorders, Bone Marrow Disorders, Chronic Myelogenous Leukemia in First Chronic Phase, or Acute Myeloid Leukemia in First Remission Completed NCT00305708 Phase 1, Phase 2 busulfan;fludarabine phosphate
16 Evaluating Use of Deferasirox as Compared to Deferoxamine in Treating Cardiac Iron Overload Completed NCT00600938 Phase 2 Core Study: Deferasirox;Core Study: Deferoxamine;Extension: deferoxamine to deferasirox;Extension: deferasirox to deferoxamine;Deferasirox;Deferoxamine
17 A Protocol to Allow Treatment With ICL670 for Patients With or at Risk of Life-threatening Complications of Transfusional Iron Overload Who Are Unable to Tolerate Other Iron Chelators Because of Documented Severe Toxicity Completed NCT01044186 Phase 2 ICL670
18 T-Cell Depleted Alternative Donor Bone Marrow Transplant for Sickle Cell Disease (SCD) and Other Anemias Recruiting NCT03653338 Phase 1, Phase 2 Hydroxyurea;Rituximab;Alemtuzumab;Fludarabine;Thiotepa
19 Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation Recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
20 Fludarabine Phosphate, Cyclophosphamide, Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Blood Cancer Recruiting NCT03333486 Phase 2 Cyclophosphamide;Fludarabine Phosphate
21 CD34+ (Malignant) Stem Cell Selection for Patients Receiving Allogenic Stem Cell Transplant Recruiting NCT02061800 Phase 1, Phase 2 Thiotepa;Cyclophosphamide;Alemtuzumab;Tacrolimus;Melphalan;Busulfan;Fludarabine;Methylprednisolone
22 Treosulfan and Fludarabine Phosphate Before Donor Stem Cell Transplant in Treating Patients With Nonmalignant Inherited Disorders Recruiting NCT00919503 Phase 2 Cyclosporine;Fludarabine Phosphate;Methotrexate;Mycophenolate Mofetil;Tacrolimus;Treosulfan
23 Improving the Results of Bone Marrow Transplantation for Patients With Severe Congenital Anemias Recruiting NCT00061568 Phase 1, Phase 2 Alemtuzumab;Sirolimus
24 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
25 Pilot Phase I/II Study of Amino Acid Leucine in Treatment of Patients With Transfusion-Dependent Diamond Blackfan Anemia Active, not recruiting NCT01362595 Phase 1, Phase 2 leucine
26 Safety and Efficacy Study of Sotatercept in Adults With Transfusion Dependent Diamond Blackfan Anemia Active, not recruiting NCT01464164 Phase 1, Phase 2 Sotatercept;Sotatercept with prednisone boost
27 Safety Study of Gene Modified Donor T-cells Following TCR Alpha Beta Depleted Stem Cell Transplant Active, not recruiting NCT02065869 Phase 1, Phase 2 rimiducid
28 Fludarabine Phosphate, Melphalan, and Low-Dose Total-Body Irradiation Followed by Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies Active, not recruiting NCT01529827 Phase 2 fludarabine phosphate;melphalan;tacrolimus;mycophenolate mofetil;methotrexate
29 Long Term Follow-up Study for Patients Enrolled on the BP-004 Clinical Study Enrolling by invitation NCT03733249 Phase 1, Phase 2 Rimiducid
30 Phase I/II Pilot Study of Mixed Chimerism to Treat Hemoglobinopathies Suspended NCT01419704 Phase 1, Phase 2
31 A Study to Determine Whether Therapy With Daclizumab Will Benefit Patients With Bone Marrow Failure Terminated NCT00001962 Phase 2 Daclizumab
32 Related Hematopoietic Stem Cell Transplantation (HSCT) for Genetic Diseases of Blood Cells Terminated NCT02512679 Phase 2 Cyclophosphamide Dose Level 1;Cyclophosphamide Dose Level 2;Cyclophosphamide Dose Level 3;Cyclophosphamide Dose Level 4
33 Reduced Intensity Conditioning for Umbilical Cord Blood Transplant in Pediatric Patients With Non-Malignant Disorders Completed NCT00744692 Phase 1 Reduced Intensity Conditioning
34 BMT Abatacept for Non-Malignant Diseases Active, not recruiting NCT01917708 Phase 1 Abatacept
35 Human Placental-Derived Stem Cell Transplantation Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
36 Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant Diseases Active, not recruiting NCT02231710 Phase 1
37 Pilot Lenalidomide in Adult Diamond-Blackfan Anemia Patients w/ RBC Transfusion-Dependent Anemia Terminated NCT01034592 Phase 1 Lenalidomide
38 Multi-Center Study of Iron Overload: Pilot Study Unknown status NCT01114776
39 Multi-Center Study of Iron Overload: Survey Study (MCSIO) Unknown status NCT01913548
40 Partially Matched Stem Cell Transplantation for Patients With Refractory Severe Aplastic Anemia or Refractory Cytopenias Completed NCT00244010 Not Applicable
41 Study of Allogeneic Bone Marrow Transplantation Using Matched, Related Donors in Patients With Nonmalignant Hematologic Disorders Completed NCT00005893 Not Applicable anti-thymocyte globulin;busulfan;cyclophosphamide
42 Stem Cell Transplantation (SCT) for Genetic Diseases Completed NCT00004378 Not Applicable
43 Diamond Blackfan Anemia Registry (DBAR) Recruiting NCT00106015
44 Cancer in Inherited Bone Marrow Failure Syndromes Recruiting NCT00027274
45 CD34+ (Non-Malignant) Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation Recruiting NCT01966367 Early Phase 1
46 Fludarabine Based RIC for Bone Marrow Failure Syndromes Recruiting NCT02928991 Early Phase 1
47 Hematopoietic Stem Cell Transplant for High Risk Hemoglobinopathies Recruiting NCT02179359 Not Applicable Reduced Toxicity Ablative Regimen;Reduced Intensity Preparative Regimen;Myeloablative Preparative Regimen
48 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
49 Investigation of the Genetics of Hematologic Diseases Recruiting NCT02720679
50 Bone Marrow and Kidney Transplant for Patients With Chronic Kidney Disease and Blood Disorders Recruiting NCT01758042 Not Applicable

Search NIH Clinical Center for Diamond-Blackfan Anemia

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Diamond-Blackfan Anemia cell therapies at LifeMap Discovery.

Cochrane evidence based reviews: anemia, diamond-blackfan

Genetic Tests for Diamond-Blackfan Anemia

Genetic tests related to Diamond-Blackfan Anemia:

# Genetic test Affiliating Genes
1 Diamond-Blackfan Anemia 30

Anatomical Context for Diamond-Blackfan Anemia

MalaCards organs/tissues related to Diamond-Blackfan Anemia:

42
Bone, Bone Marrow, Heart, Eye, T Cells, Kidney, Liver

Publications for Diamond-Blackfan Anemia

Articles related to Diamond-Blackfan Anemia:

(show top 50) (show all 348)
# Title Authors Year
1
Regulation of globin-heme balance in Diamond-Blackfan anemia by HSP70/GATA1. ( 30700418 )
2019
2
The Genetic Landscape of Diamond-Blackfan Anemia. ( 30735661 )
2019
3
A Phenotypic Screening Assay Identifies Modulators of Diamond Blackfan Anemia. ( 30784369 )
2019
4
Diamond Blackfan Anemia: Genetics, Pathogenesis, Diagnosis and Treatment. ( 30881276 )
2019
5
A Novel Deletion in the RPL5 Gene in a Lebanese Child With Diamond Blackfan Anemia Unresponsive to Steroid Treatment. ( 30933022 )
2019
6
Molecular analysis and genotype-phenotype correlation of Diamond-Blackfan anemia. ( 29044489 )
2018
7
Molecular approaches to diagnose Diamond-Blackfan anemia: The EuroDBA experience. ( 29081386 )
2018
8
Pediatric Diamond-Blackfan anemia in the Netherlands: An overview of clinical characteristics and underlying molecular defects. ( 29114930 )
2018
9
Concise Review: Advanced Cell Culture Models for Diamond Blackfan Anemia and Other Erythroid Disorders. ( 29124822 )
2018
10
Perspective on Diamond-Blackfan anemia: lessons from a rare congenital bone marrow failure syndrome. ( 29182601 )
2018
11
Cross talk between TP53 and c-Myc in the pathophysiology of Diamond-Blackfan anemia: Evidence from RPL11-deficient in vivo and in vitro models. ( 29225165 )
2018
12
Atypical erythroblastosis in a patient with Diamond-Blackfan anemia who developed del(20q) myelodysplasia. ( 29476317 )
2018
13
Innate immune system activation in zebrafish and cellular models of Diamond Blackfan Anemia. ( 29581525 )
2018
14
Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia. ( 29599205 )
2018
15
Identification of novel drug targets for diamond-blackfan anemia based on RPS19 gene mutation using protein-protein interaction network. ( 29745857 )
2018
16
Increased Prevalence of Congenital Heart Disease in Children With Diamond Blackfan Anemia Suggests Unrecognized Diamond Blackfan Anemia as a Cause of Congenital Heart Disease in the General Population: A Report of the Diamond Blackfan Anemia Registry. ( 29748317 )
2018
17
A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond-Blackfan anemia. ( 29766597 )
2018
18
Pancreatic lipomatosis in Diamond-Blackfan anemia: The importance of genetic testing in bone marrow failure disorders. ( 29885000 )
2018
19
Correction to: Atypical erythroblastosis in a patient with Diamond-Blackfan anemia who developed del(20q) myelodysplasia. ( 29967977 )
2018
20
Critical Issues in Diamond-Blackfan Anemia and Prospects for Novel Treatment. ( 30047421 )
2018
21
Somatic reversion events point towards RPL4 as a novel disease gene in a condition resembling Diamond-Blackfan Anemia. ( 30213830 )
2018
22
An update on the pathogenesis and diagnosis of Diamond-Blackfan anemia. ( 30228860 )
2018
23
Increased risk of colon cancer and osteogenic sarcoma in Diamond-Blackfan anemia. ( 30266775 )
2018
24
Emerging Therapeutic Approaches for Diamond Blackfan Anemia. ( 30411682 )
2018
25
The Genetic Landscape of Diamond-Blackfan Anemia. ( 30503522 )
2018
26
A Novel 12q13.2-q13.3 Microdeletion Syndrome With Combined Features of Diamond Blackfan Anemia, Pierre Robin Sequence and Klippel Feil Deformity. ( 30524470 )
2018
27
Diagnostic challenge of Diamond-Blackfan anemia in mothers and children by whole-exome sequencing. ( 27882484 )
2017
28
Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia. ( 27909223 )
2017
29
Reduced-intensity conditioning and stem cell transplantation in infants with Diamond Blackfan anemia. ( 27927765 )
2017
30
Drug discovery for Diamond-Blackfan anemia using reprogrammed hematopoietic progenitors. ( 28179501 )
2017
31
Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations. ( 28376382 )
2017
32
Molecular convergence in ex vivo models of Diamond-Blackfan anemia. ( 28377399 )
2017
33
Novel 3q27.2-qter deletion in a patient with Diamond-Blackfan anemia and immunodeficiency: Case report and review of literature. ( 28432740 )
2017
34
Lentiviral Vectors with Cellular Promoters Correct Anemia and Lethal Bone Marrow Failure in a Mouse Model for Diamond-Blackfan Anemia. ( 28434866 )
2017
35
Confounding in ex vivo models of Diamond-Blackfan anemia. ( 28615220 )
2017
36
Variable expressivity and incomplete penetrance in a large family with non-classical Diamond-Blackfan anemia associated with ribosomal protein L11 splicing variant. ( 28742285 )
2017
37
Discrimination of Diamond-Blackfan anemia from parvovirus B19 infection by RBC glutathione. ( 28745457 )
2017
38
Self-reverting mutations partially correct the blood phenotype in a Diamond Blackfan anemia patient. ( 28971907 )
2017
39
The severe phenotype of Diamond-Blackfan anemia is modulated by heat shock protein 70. ( 29296843 )
2017
40
Successful long-term management with low-dose prednisolone in an adult patient with Diamond-Blackfan anemia. ( 28883274 )
2017
41
[Clinical features and pathogenic gene detection of Diamond-Blackfan anemia]. ( 28202115 )
2017
42
Endocrine Dysfunction in Diamond-Blackfan Anemia (DBA): A Report from the DBA Registry (DBAR). ( 26496000 )
2016
43
ALDH2 polymorphism in patients with Diamond-Blackfan anemia in Japan. ( 26608366 )
2016
44
The Stomatological Complications of Diamond-Blackfan Anemia: A Case Report. ( 26864506 )
2016
45
Transcriptome analysis reveals a ribosome constituents disorder involved in the RPL5 downregulated zebrafish model of Diamond-Blackfan anemia. ( 26961822 )
2016
46
Fanconi Syndrome Secondary to Deferasirox in Diamond-Blackfan Anemia: Case Series and Recommendations for Early Diagnosis. ( 27082377 )
2016
47
Delayed globin synthesis leads to excess heme and the macrocytic anemia of Diamond Blackfan anemia and del(5q) myelodysplastic syndrome. ( 27169803 )
2016
48
Diamond Blackfan Anemia: A Nonclassical Patient With Diagnosis Assisted by Genomic Analysis. ( 27258031 )
2016
49
Erythrocyte glutathione is a novel biomarker of Diamond-Blackfan anemia. ( 27282564 )
2016
50
Clinical features, mutations and treatment of 104 patients of Diamond-Blackfan anemia in China: a single-center retrospective study. ( 27329125 )
2016

Variations for Diamond-Blackfan Anemia

ClinVar genetic disease variations for Diamond-Blackfan Anemia:

6 (show top 50) (show all 375)
# Gene Variation Type Significance SNP ID Assembly Location
1 RPL11 NM_000975.5(RPL11): c.223C> T (p.Arg75Ter) single nucleotide variant Pathogenic rs121434389 GRCh37 Chromosome 1, 24020362: 24020362
2 RPL11 NM_000975.5(RPL11): c.223C> T (p.Arg75Ter) single nucleotide variant Pathogenic rs121434389 GRCh38 Chromosome 1, 23693872: 23693872
3 RPS24 NM_033022.3(RPS24): c.46C> T (p.Arg16Ter) single nucleotide variant Pathogenic rs104894189 GRCh37 Chromosome 10, 79795152: 79795152
4 RPS24 NM_033022.3(RPS24): c.46C> T (p.Arg16Ter) single nucleotide variant Pathogenic rs104894189 GRCh38 Chromosome 10, 78035394: 78035394
5 RPS19 NM_001022.3(RPS19): c.164C> T (p.Thr55Met) single nucleotide variant Uncertain significance rs147508369 GRCh37 Chromosome 19, 42365273: 42365273
6 RPS19 NM_001022.3(RPS19): c.164C> T (p.Thr55Met) single nucleotide variant Uncertain significance rs147508369 GRCh38 Chromosome 19, 41861204: 41861204
7 GATA1 NM_002049.3(GATA1): c.163G> A (p.Ala55Thr) single nucleotide variant Benign rs150572851 GRCh37 Chromosome X, 48649679: 48649679
8 GATA1 NM_002049.3(GATA1): c.163G> A (p.Ala55Thr) single nucleotide variant Benign rs150572851 GRCh38 Chromosome X, 48791272: 48791272
9 RPL11 NM_000975.5(RPL11): c.-37C> G single nucleotide variant Benign rs10917413 GRCh37 Chromosome 1, 24018277: 24018277
10 RPL11 NM_000975.5(RPL11): c.-37C> G single nucleotide variant Benign rs10917413 GRCh38 Chromosome 1, 23691787: 23691787
11 RPS19 NM_001022.3(RPS19): c.356+14A= single nucleotide variant Benign rs1366610 GRCh37 Chromosome 19, 42373298: 42373298
12 RPS19 NM_001022.3(RPS19): c.356+14A= single nucleotide variant Benign rs1366610 GRCh38 Chromosome 19, 41869228: 41869228
13 RPS19 NM_001022.3(RPS19): c.411+12G> A single nucleotide variant Likely benign rs61762296 GRCh38 Chromosome 19, 41869765: 41869765
14 RPS19 NM_001022.3(RPS19): c.411+12G> A single nucleotide variant Likely benign rs61762296 GRCh37 Chromosome 19, 42373835: 42373835
15 RPL11 NM_000975.5(RPL11): c.258T> G (p.Gly86=) single nucleotide variant Likely benign rs760885169 GRCh37 Chromosome 1, 24020397: 24020397
16 RPL11 NM_000975.5(RPL11): c.258T> G (p.Gly86=) single nucleotide variant Likely benign rs760885169 GRCh38 Chromosome 1, 23693907: 23693907
17 RPL5 NM_000969.5(RPL5): c.165G> A (p.Val55=) single nucleotide variant Benign/Likely benign rs58263806 GRCh38 Chromosome 1, 92833636: 92833636
18 RPL5 NM_000969.5(RPL5): c.165G> A (p.Val55=) single nucleotide variant Benign/Likely benign rs58263806 GRCh37 Chromosome 1, 93299193: 93299193
19 RPL5 NM_000969.5(RPL5): c.258T> C (p.Tyr86=) single nucleotide variant Benign/Likely benign rs113792800 GRCh38 Chromosome 1, 92834847: 92834847
20 RPL5 NM_000969.5(RPL5): c.258T> C (p.Tyr86=) single nucleotide variant Benign/Likely benign rs113792800 GRCh37 Chromosome 1, 93300404: 93300404
21 RPL5 NM_000969.5(RPL5): c.325-4A> G single nucleotide variant Benign rs183825489 GRCh37 Chromosome 1, 93301743: 93301743
22 RPL5 NM_000969.5(RPL5): c.325-4A> G single nucleotide variant Benign rs183825489 GRCh38 Chromosome 1, 92836186: 92836186
23 RPL5 NM_000969.5(RPL5): c.326T> C (p.Leu109Pro) single nucleotide variant Uncertain significance rs878854146 GRCh38 Chromosome 1, 92836191: 92836191
24 RPL5 NM_000969.5(RPL5): c.326T> C (p.Leu109Pro) single nucleotide variant Uncertain significance rs878854146 GRCh37 Chromosome 1, 93301748: 93301748
25 RPL5 NM_000969.5(RPL5): c.629A> G (p.Tyr210Cys) single nucleotide variant Benign/Likely benign rs11540832 GRCh37 Chromosome 1, 93303114: 93303114
26 RPL5 NM_000969.5(RPL5): c.629A> G (p.Tyr210Cys) single nucleotide variant Benign/Likely benign rs11540832 GRCh38 Chromosome 1, 92837557: 92837557
27 RPS10 NM_001014.4(RPS10): c.231G> A (p.Gln77=) single nucleotide variant Benign/Likely benign rs147863199 GRCh37 Chromosome 6, 34392537: 34392537
28 RPS10 NM_001014.4(RPS10): c.231G> A (p.Gln77=) single nucleotide variant Benign/Likely benign rs147863199 GRCh38 Chromosome 6, 34424760: 34424760
29 RPS10 NM_001014.4(RPS10): c.135C> T (p.Val45=) single nucleotide variant Likely benign rs148901210 GRCh37 Chromosome 6, 34392864: 34392864
30 RPS10 NM_001014.4(RPS10): c.135C> T (p.Val45=) single nucleotide variant Likely benign rs148901210 GRCh38 Chromosome 6, 34425087: 34425087
31 RPS24 NM_033022.3(RPS24): c.371A> G (p.Asn124Ser) single nucleotide variant Likely benign rs147128920 GRCh37 Chromosome 10, 79797043: 79797043
32 RPS24 NM_033022.3(RPS24): c.371A> G (p.Asn124Ser) single nucleotide variant Likely benign rs147128920 GRCh38 Chromosome 10, 78037285: 78037285
33 RPL26 NM_000987.5(RPL26): c.259C> T (p.Arg87Trp) single nucleotide variant Uncertain significance rs878854147 GRCh38 Chromosome 17, 8379846: 8379846
34 RPL26 NM_000987.5(RPL26): c.259C> T (p.Arg87Trp) single nucleotide variant Uncertain significance rs878854147 GRCh37 Chromosome 17, 8283164: 8283164
35 RPS19 NM_001022.3(RPS19): c.72-92A> G single nucleotide variant Likely benign rs566047445 GRCh37 Chromosome 19, 42365089: 42365089
36 RPS19 NM_001022.3(RPS19): c.72-92A> G single nucleotide variant Likely benign rs566047445 GRCh38 Chromosome 19, 41861020: 41861020
37 RPS19 NM_001022.3(RPS19): c.356+18G> C single nucleotide variant Benign rs61762294 GRCh37 Chromosome 19, 42373302: 42373302
38 RPS19 NM_001022.3(RPS19): c.356+18G> C single nucleotide variant Benign rs61762294 GRCh38 Chromosome 19, 41869232: 41869232
39 RPS24 NM_033022.3(RPS24): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs886039545 GRCh37 Chromosome 10, 79793660: 79793660
40 RPS24 NM_033022.3(RPS24): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs886039545 GRCh38 Chromosome 10, 78033902: 78033902
41 RPL5 NM_000969.5(RPL5): c.3+3G> C single nucleotide variant Benign/Likely benign rs200628272 GRCh37 Chromosome 1, 93297677: 93297677
42 RPL5 NM_000969.5(RPL5): c.3+3G> C single nucleotide variant Benign/Likely benign rs200628272 GRCh38 Chromosome 1, 92832120: 92832120
43 RPL11 NM_000975.5(RPL11): c.339C> T (p.Ile113=) single nucleotide variant Benign/Likely benign rs8880 GRCh38 Chromosome 1, 23694734: 23694734
44 RPL11 NM_000975.5(RPL11): c.339C> T (p.Ile113=) single nucleotide variant Benign/Likely benign rs8880 GRCh37 Chromosome 1, 24021224: 24021224
45 RPL11 NM_000975.5(RPL11): c.-14T> C single nucleotide variant Uncertain significance rs886046307 GRCh38 Chromosome 1, 23691810: 23691810
46 RPL11 NM_000975.5(RPL11): c.-14T> C single nucleotide variant Uncertain significance rs886046307 GRCh37 Chromosome 1, 24018300: 24018300
47 RPL11 NM_000975.5(RPL11): c.270G> A (p.Arg90=) single nucleotide variant Uncertain significance rs886046308 GRCh38 Chromosome 1, 23694665: 23694665
48 RPL11 NM_000975.5(RPL11): c.270G> A (p.Arg90=) single nucleotide variant Uncertain significance rs886046308 GRCh37 Chromosome 1, 24021155: 24021155
49 RPL5 NM_000969.5(RPL5): c.-55C> G single nucleotide variant Likely benign rs116168890 GRCh38 Chromosome 1, 92832060: 92832060
50 RPL5 NM_000969.5(RPL5): c.-55C> G single nucleotide variant Likely benign rs116168890 GRCh37 Chromosome 1, 93297617: 93297617

Copy number variations for Diamond-Blackfan Anemia from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 29995 1 23890880 23895502 Deleted RPL11 Diamond-Blackfan anemia
2 37614 1 93070181 93080069 Deleted RPL5 Diamond-Blackfan anemia
3 95791 15 80608215 81006263 Deleted RPS17 Diamond-Blackfan anemia
4 130016 19 47055827 47067324 Deleted RPS19 Diamond-Blackfan anemia
5 174085 3 199161448 199167118 Deleted RPL35A Diamond-Blackfan anemia

Expression for Diamond-Blackfan Anemia

Search GEO for disease gene expression data for Diamond-Blackfan Anemia.

Pathways for Diamond-Blackfan Anemia

Pathways related to Diamond-Blackfan Anemia according to KEGG:

38
# Name Kegg Source Accession
1 Ribosome hsa03010

Pathways related to Diamond-Blackfan Anemia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.01 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35
2
Show member pathways
13.7 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35
3
Show member pathways
13.64 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35
4
Show member pathways
13.62 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35
5
Show member pathways
13.54 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35
6
Show member pathways
12.53 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35
7
Show member pathways
12.45 RPS10 RPS15A RPS17 RPS19 RPS24 RPS26
8
Show member pathways
12.36 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35
9 11.4 RPL11 RPL5 TP53

GO Terms for Diamond-Blackfan Anemia

Cellular components related to Diamond-Blackfan Anemia according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 ribosome GO:0005840 9.89 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35
2 cytosolic large ribosomal subunit GO:0022625 9.86 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35
3 rough endoplasmic reticulum GO:0005791 9.85 RPL18 RPL27 RPS26 RPS28 RPS29
4 ribonucleoprotein complex GO:1990904 9.84 RPL26 RPL27 RPL5 RPS7
5 small ribosomal subunit GO:0015935 9.8 RPS24 RPS26 RPS28 RPS29
6 polysomal ribosome GO:0042788 9.8 RPL11 RPL18 RPS26 RPS28 RPS29
7 cytoplasmic side of rough endoplasmic reticulum membrane GO:0098556 9.62 RPL27 RPS26 RPS28 RPS29
8 cytosolic small ribosomal subunit GO:0022627 9.28 RPS10 RPS15A RPS17 RPS19 RPS24 RPS26
9 membrane GO:0016020 10.45 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35
10 cytoplasm GO:0005737 10.38 RPL11 RPL18 RPL26 RPL27 RPL5 RPS10
11 nucleoplasm GO:0005654 10.32 GATA1 RPL11 RPL26 RPL5 RPS10 RPS15A
12 cytosol GO:0005829 10.32 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35
13 extracellular exosome GO:0070062 10.22 RPL11 RPL26 RPL27 RPL35A RPL5 RPS15A
14 nucleolus GO:0005730 10.16 RPL11 RPL18 RPL26 RPL35 RPL5 RPS10
15 endoplasmic reticulum GO:0005783 10.1 RPL18 RPL27 RPL5 RPS26 RPS28 RPS29
16 focal adhesion GO:0005925 10.03 RPL18 RPL27 RPL5 RPS10 RPS17 RPS19
17 intracellular GO:0005622 10.03 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35

Biological processes related to Diamond-Blackfan Anemia according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 ribosomal small subunit biogenesis GO:0042274 9.8 RPS17 RPS19 RPS24 RPS28 RPS7
2 ribosomal large subunit biogenesis GO:0042273 9.73 RPL11 RPL26 RPL35A RPL5
3 regulation of signal transduction by p53 class mediator GO:1901796 9.71 RPL11 RPL5 TP53
4 rRNA processing GO:0006364 9.7 RPL11 RPL26 RPL27 RPL35A RPL5 RPS17
5 negative regulation of ubiquitin-dependent protein catabolic process GO:2000059 9.67 RPL11 RPL5 RPS7
6 ribosomal small subunit assembly GO:0000028 9.65 RPS10 RPS19 RPS28
7 negative regulation of ubiquitin protein ligase activity GO:1904667 9.63 RPL11 RPL5 RPS7
8 cellular response to gamma radiation GO:0071480 9.58 RPL26 TP53
9 ribosomal large subunit assembly GO:0000027 9.58 RPL11 RPL5
10 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) GO:0000462 9.57 RPS19 TSR2
11 maturation of SSU-rRNA GO:0030490 9.56 RPS19 RPS28
12 erythrocyte homeostasis GO:0034101 9.55 RPS17 RPS24
13 positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator GO:1902255 9.52 RPL11 RPS7
14 negative regulation of protein neddylation GO:2000435 9.51 RPL11 RPL5
15 cytoplasmic translation GO:0002181 9.23 RPL11 RPL15 RPL18 RPL26 RPL35A RPS26
16 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO:0000184 10.3 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35
17 SRP-dependent cotranslational protein targeting to membrane GO:0006614 10.25 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35
18 translation GO:0006412 10.19 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35
19 translational initiation GO:0006413 10.09 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35

Molecular functions related to Diamond-Blackfan Anemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.89 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35
2 structural constituent of ribosome GO:0003735 9.55 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35
3 mRNA 3'-UTR binding GO:0003730 9.54 RPL5 RPS7 TP53
4 mRNA 5'-UTR binding GO:0048027 9.43 RPL26 RPL5 RPS7
5 ubiquitin ligase inhibitor activity GO:1990948 9.33 RPL11 RPL5 RPS7
6 5S rRNA binding GO:0008097 9.32 RPL11 RPL5

Sources for Diamond-Blackfan Anemia

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