BDA
MCID: DMN001
MIFTS: 69

Diamond-Blackfan Anemia (BDA) malady

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

Aliases & Classifications for Diamond-Blackfan Anemia

Aliases & Descriptions for Diamond-Blackfan Anemia:

Name: Diamond-Blackfan Anemia 38 12 23 50 24 25 52 14
Congenital Pure Red Cell Aplasia 25 56 52
Erythrogenesis Imperfecta 50 25 69
Aase Syndrome 25 56 69
Congenital Hypoplastic Anemia of Blackfan and Diamond 24 25
Congenital Hypoplastic Anemia 50 69
Anemia, Diamond-Blackfan 42 69
Blackfan-Diamond Anemia 56 29
Bds 50 25
Dba 50 25
Congenital Hypoplastic Anemia, Blackfan-Diamond Type 56
Chronic Constitutional Pure Red Cell Anaemia 12
Anemia Congenital Erythroid Hypoplastic 50
Aregenerative Anemia Chronic Congenital 50
Congenital Erythroid Hypoplastic Anemia 25
Chronic Congenital Agenerative Anemia 25
Red Cell Aplasia, Pure Hereditary 50
Pure Hereditary Red Cell Aplasia 25
Congenital Pure Red Cell Anemia 25
Hypoplastic Congenital Anemia 25
Anemia Hypoplastic Congenital 52
Anemia Diamond Blackfan Type 50
Inherited Erythroblastopenia 25
Blackfan - Diamond Syndrome 12
Diamond-Blackfan Anemia 1 69
Blackfan Diamond Syndrome 50
Blackfan-Diamond Syndrome 25
Blackfan-Diamond Disease 25
Blackfan Diamond Anemia 25
Aase-Smith Syndrome Ii 25
Aase-Smith Ii Syndrome 56
Aase Smith Syndrome 2 69
Congenital Prca 56
Bda 25

Characteristics:

Orphanet epidemiological data:

56
blackfan-diamond anemia
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood,Infancy,Neonatal; Age of death: any age;

GeneReviews:

23
Penetrance Penetrance is incomplete...

Classifications:



External Ids:

Disease Ontology 12 DOID:1339
ICD10 33 D61.01
MeSH 42 D029503
NCIt 47 C61236
Orphanet 56 ORPHA124
ICD10 via Orphanet 34 D61.0
MESH via Orphanet 43 D029503
UMLS via Orphanet 70 C1260899
UMLS 69 C1260899

Summaries for Diamond-Blackfan Anemia

NIH Rare Diseases : 50 diamond-blackfan anemia is an inherited blood disorder that affects the ability of the bone marrow to produce red blood cells. it is usually diagnosed during the first year of life. individuals with diamond-blackfan anemia may also have physical abnormalities of the face head, upper limbs, hands (mostly involving the thumbs), genitalia, urinary tract, and heart. some affected individuals also have short stature. diamond-blackfan anemia is caused by a mutation in a number of different gene(s), 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. 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.     last updated: 2/17/2016

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 10, and has symptoms including fatigue, short nose and short stature. An important gene associated with Diamond-Blackfan Anemia is RPL5 (Ribosomal Protein L5), and among its related pathways/superpathways are Metabolism and Gene Expression. The drugs Iron and Deferasirox have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and heart, and related phenotype is Decreased shRNA abundance (Z-score < -2).

Genetics Home Reference : 25 Diamond-Blackfan anemia is a disorder of the bone marrow. The major function of bone marrow is to produce new blood cells. In Diamond-Blackfan anemia, the bone marrow malfunctions and fails to make enough red blood cells, which carry oxygen to the body's tissues. The resulting shortage of red blood cells (anemia) usually becomes apparent during the first year of life. Symptoms of anemia include fatigue, weakness, and an abnormally pale appearance (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.

GeneReviews: NBK7047

Related Diseases for Diamond-Blackfan Anemia

Diseases in the Diamond-Blackfan Anemia family:

Diamond-Blackfan Anemia 7 Diamond-Blackfan Anemia 6
Diamond-Blackfan Anemia 8 Diamond-Blackfan Anemia 12
Diamond-Blackfan Anemia 5 Diamond-Blackfan Anemia 9
Diamond-Blackfan Anemia 2 Diamond-Blackfan Anemia 3
Diamond-Blackfan Anemia 10 Diamond-Blackfan Anemia 13
Diamond-Blackfan Anemia 4 Diamond-Blackfan Anemia 11
Diamond-Blackfan Anemia 1 Gata1-Related Diamond-Blackfan Anemia
Rpl11-Related Diamond-Blackfan Anemia Rpl15-Related Diamond-Blackfan Anemia
Rpl26-Related Diamond-Blackfan Anemia Rpl35a-Related Diamond-Blackfan Anemia
Rpl5-Related Diamond-Blackfan Anemia Rps10-Related Diamond-Blackfan Anemia
Rps17-Related Diamond-Blackfan Anemia Rps19-Related Diamond-Blackfan Anemia
Rps24-Related Diamond-Blackfan Anemia Rps26-Related Diamond-Blackfan Anemia
Rps7-Related Diamond-Blackfan Anemia

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

(show top 50) (show all 81)
id Related Disease Score Top Affiliating Genes
1 diamond-blackfan anemia 1 12.6
2 diamond-blackfan anemia 10 12.6
3 diamond-blackfan anemia 4 12.6
4 diamond-blackfan anemia 7 12.6
5 diamond-blackfan anemia 11 12.6
6 diamond-blackfan anemia 8 12.6
7 diamond-blackfan anemia 5 12.6
8 diamond-blackfan anemia 9 12.6
9 diamond-blackfan anemia 3 12.6
10 diamond-blackfan anemia 6 12.6
11 diamond-blackfan anemia 12 12.6
12 diamond-blackfan anemia 13 12.6
13 diamond blackfan anemia 15 with mandibulofacial dysostosis 12.6
14 diamond-blackfan anemia 14 with mandibulofacial dysostosis 12.5
15 diamond-blackfan anemia 2 12.5
16 rpl11-related diamond-blackfan anemia 12.2
17 rpl15-related diamond-blackfan anemia 12.2
18 rpl35a-related diamond-blackfan anemia 12.2
19 rps10-related diamond-blackfan anemia 12.2
20 rps17-related diamond-blackfan anemia 12.2
21 rps19-related diamond-blackfan anemia 12.2
22 rps26-related diamond-blackfan anemia 12.2
23 rps7-related diamond-blackfan anemia 12.2
24 trs2-related diamond-blackfan anemia with mandibulofacial dysostosis 12.2
25 rpl5-related diamond-blackfan anemia 12.2
26 rps24-related diamond-blackfan anemia 12.2
27 gata1-related diamond-blackfan anemia 12.1
28 rpl26-related diamond-blackfan anemia 12.1
29 bd syndrome 11.9
30 binswanger's disease 11.2
31 dementia - subcortical 11.2
32 subcortical arteriosclerotic encephalopathy 11.2
33 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech 10.9
34 behcet syndrome 10.8
35 hematopoietic stem cell transplantation 10.4
36 mental retardation, autosomal dominant 16 10.3 RPS26 RPS28 TSR2
37 deafness, autosomal recessive 32 10.3 RPL5 RPS19
38 hydrops fetalis 10.3
39 myotonic dystrophy 1 10.3 EPO KITLG RPS19
40 glanders 10.3 RPL11 RPL35A RPL5 RPS17 RPS19
41 pyloric stenosis, infantile hypertrophic, 4 10.3 EPO GATA1 IL3
42 necrotizing ulcerative gingivitis 10.3 RPS27 RPS29
43 dic in newborn 10.3 EPO IL3 KITLG
44 sarcoma 10.3
45 middle cerebral artery infarction 10.3 GATA1 IL3 KITLG
46 actinobacillosis 10.2 EPO GATA1 IL3 KITLG
47 intestinal impaction 10.2 EPO IL3 KITLG
48 erythrocytosis, somatic 10.2 EPO IL3 KITLG
49 hyperparathyroidism, neonatal 10.2 EPO GATA1 IL3 KITLG RPS17 RPS19
50 thalassemia 10.2

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:

56 32 (show all 18)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fatigue 56 32 Frequent (79-30%) HP:0012378
2 short nose 56 32 Occasional (29-5%) HP:0003196
3 short stature 56 32 Occasional (29-5%) HP:0004322
4 delayed puberty 56 32 Frequent (79-30%) HP:0000823
5 arrhythmia 56 32 Very frequent (99-80%) HP:0011675
6 cleft palate 56 32 Frequent (79-30%) HP:0000175
7 pallor 56 32 Very frequent (99-80%) HP:0000980
8 thick lower lip vermilion 56 32 Occasional (29-5%) HP:0000179
9 migraine 56 32 Frequent (79-30%) HP:0002076
10 depressed nasal ridge 56 32 Occasional (29-5%) HP:0000457
11 abnormality of the hand 56 32 Frequent (79-30%) HP:0001155
12 acute leukemia 56 32 Occasional (29-5%) HP:0002488
13 abnormality of the genital system 56 32 Frequent (79-30%) HP:0000078
14 abnormality of the urinary system 56 32 Frequent (79-30%) HP:0000079
15 macrocytic anemia 56 32 Frequent (79-30%) HP:0001972
16 anemia 56 Very frequent (99-80%)
17 neoplasm 56 Occasional (29-5%)
18 growth delay 56 Very frequent (99-80%)

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-1 10.53 RPS19
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 10.53 RPS29
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 10.53 RPS17
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 10.53 RPS17 RPS19 RPS29
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 10.53 RPS29
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 10.53 RPS17
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-160 10.53 RPS29
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 10.53 RPS17 RPS19 RPS29
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 10.53 RPS19
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 10.53 RPS19
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 10.53 RPS17
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-209 10.53 RPS17 RPS19
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 10.53 RPS17
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 10.53 RPS17
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 10.53 RPS17
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 10.53 RPS17
17 Decreased NF-kappaB reporter expression GR00312-A 10.3 RPS7 RPL11 RPL15 RPL26 RPL35A RPL5
18 Increased G1 DNA content GR00098-A-1 10.18 RPS29 RPS7 TSR2 GATA1 RPL11 RPL15
19 Increased viability GR00386-A-1 10.17 EPO KITLG RPL11 RPL15 RPL26 RPL35A
20 Decreased viability of wild-type and TP53 knockout cells GR00196-A-1 10.08 RPL11 RPL15 RPL35A RPL5 RPS10 RPS17
21 FOXO1 nuclear localization GR00247-A-1 10.06 RPL11 RPL15 RPS24 RPS7
22 FOXO1 nuclear localization GR00247-A-2 10.06 RPL11 RPL15 RPS24 RPS7
23 Decreased Hepatitis C virus replication GR00180-A-1 10.01 RPS19 RPS24 RPS26 RPS28 RPS29 RPS7
24 G0/1 arrest GR00098-A-2 9.98 RPL11 RPL35A RPS19 RPS24 RPS26 RPS29
25 Decreased viability GR00106-A-0 9.97 RPL5 RPS17 RPS19 RPS29 RPS7
26 Decreased viability GR00381-A-1 9.97 RPS19
27 Decreased cell number GR00303-A 9.85 RPL11 RPL5 RPS19 RPS29
28 Negative genetic interaction between KRASG13D/+ and KRAS+/- GR00255-A-5 9.8 RPL11 RPL15 RPL35A RPS17 RPS19 RPS26
29 HIV Rev nuclear localization GR00247-A-3 9.71 RPL11 RPL15 RPS24 RPS7
30 Nuclear 40S maturation defects GR00209-A-2 9.63 RPL11 RPS10 RPS17 RPS26 RPS28 RPS29
31 Nucleoplasmic pre-40S maturation defects GR00209-A-1 9.4 RPL11 RPL26 RPL35A RPL5 RPS10 RPS17
32 Nuclear 60S biogenesis defects GR00209-A-3 9.26 RPL11 RPL26 RPL35A RPL5

Drugs & Therapeutics for Diamond-Blackfan Anemia

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

(show top 50) (show all 94)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 4,Phase 3,Phase 2 7439-89-6 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 Chelating Agents Phase 4,Phase 3,Phase 2
5 Trace Elements Phase 4,Phase 3,Phase 2
6 Iron Chelating Agents Phase 4,Phase 3,Phase 2
7 Micronutrients Phase 4,Phase 3,Phase 2
8
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 1,Early Phase 1 50-18-0, 6055-19-2 2907
9
Fludarabine Approved Phase 2, Phase 3, Phase 1, Early Phase 1 21679-14-1, 75607-67-9 30751
10
Vidarabine Approved Phase 2, Phase 3, Early Phase 1 24356-66-9 32326 21704
11
Busulfan Approved, Investigational Phase 2, Phase 3, Phase 1, Early Phase 1 55-98-1 2478
12
alemtuzumab Approved, Investigational Phase 2, Phase 3,Phase 1 216503-57-0
13
Lenograstim Approved Phase 2, Phase 3 135968-09-1
14 Alkylating Agents Phase 2, Phase 3, Phase 1, Early Phase 1
15 Adjuvants, Immunologic Phase 2, Phase 3
16 Anti-Infective Agents Phase 2, Phase 3, Early Phase 1
17 Immunosuppressive Agents Phase 2, Phase 3, Phase 1, Early Phase 1
18 Antilymphocyte Serum Phase 2, Phase 3, Phase 1
19 Antimetabolites Phase 2, Phase 3, Phase 1, Early Phase 1
20 Antimetabolites, Antineoplastic Phase 2, Phase 3, Phase 1, Early Phase 1
21 Antirheumatic Agents Phase 2, Phase 3,Phase 1,Early Phase 1
22 Antineoplastic Agents, Alkylating Phase 2, Phase 3, Phase 1, Early Phase 1
23 Antiviral Agents Phase 2, Phase 3, Early Phase 1
24 Orange Nutraceutical Phase 3
25
Cyclosporine Approved, Investigational, Vet_approved Phase 2,Phase 1 79217-60-0, 59865-13-3 5284373 6435893
26
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
27
Melphalan Approved Phase 1, Phase 2 148-82-3 4053 460612
28
Mycophenolic acid Approved Phase 2,Phase 1 24280-93-1 446541
29
Mycophenolate mofetil Approved, Investigational Phase 2,Phase 1 128794-94-5 5281078
30
Hydroxyurea Approved Phase 2,Phase 1 127-07-1 3657
31
Deferoxamine Approved, Investigational Phase 2 70-51-9 2973
32
rituximab Approved Phase 2 174722-31-7 10201696
33
Prednisolone Approved, Vet_approved Phase 2,Phase 1 50-24-8 5755
34
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
35
Deferiprone Approved Phase 2 30652-11-0 2972
36
Thiotepa Approved Phase 1, Phase 2 52-24-4 5453
37
Methylprednisolone Approved, Vet_approved Phase 2,Phase 1 83-43-2 6741
38
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492
39
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
40
Acetaminophen Approved Phase 2 103-90-2 1983
41
Diphenhydramine Approved Phase 2 58-73-1, 147-24-0 3100
42
Everolimus Approved Phase 2 159351-69-6 6442177
43
Promethazine Approved Phase 2 60-87-7 4927
44
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
45
Prednisone Approved, Vet_approved Phase 1, Phase 2 53-03-2 5865
46
Mechlorethamine Approved Phase 2 51-75-2 4033
47
Daclizumab Approved, Investigational Phase 2 152923-56-3
48
leucovorin Approved, Nutraceutical Phase 2 58-05-9 54575, 6560146 143
49
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
50 Prednisolone acetate Phase 2,Phase 1

Interventional clinical trials:

(show all 47)
id Name Status NCT ID Phase
1 Magnetic Resonance Imaging (MRI) Assessments of the Heart and Liver Iron Load in Patients With Transfusion Induced Iron Overload Completed NCT00673608 Phase 4
2 Stem Cell Transplant for Bone Marrow Failure Syndromes Completed NCT00176878 Phase 2, Phase 3
3 Expanded Access of Deferasirox to Patients With Congenital Disorders of Red Blood Cells and Chronic Iron Overload Completed NCT00235391 Phase 3
4 A Study Assessing the Efficacy and Safety of Deferasirox in Patients With Transfusion-dependent Iron Overload Completed NCT00171821 Phase 3
5 Stem Cell Transplant for Hemoglobinopathy Active, not recruiting NCT00176852 Phase 2, Phase 3
6 L-leucine in Diamond Blackfan Anemia Patients Unknown status NCT02386267 Phase 2
7 Rituximab to Treat Moderate Aplastic Anemia, Pure Red Cell Aplasia, or Diamond Blackfan Anemia Completed NCT00229619 Phase 2
8 Mobilization of Stem Cells With G-CSF for Collection From Patients With Diamond-Blackfan Anemia Completed NCT00011505 Phase 2
9 Medical Treatment for Diamond Blackfan Anemia Completed NCT00001749 Phase 2
10 Allogeneic Bone Marrow Transplantation for the Treatment of Genetic Disorders of Erythropoiesis Completed NCT00578435 Phase 2
11 Study of Deferasirox in Iron Overload From Beta-thalassemia Unable to be Treated With Deferoxamine or Chronic Anemias Completed NCT00061763 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
14 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 Remi Completed NCT00305708 Phase 1, Phase 2
15 Evaluating Use of Deferasirox as Compared to Deferoxamine in Treating Cardiac Iron Overload Completed NCT00600938 Phase 2
16 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
17 Safety and Efficacy Study of Sotatercept in Adults With Transfusion Dependent Diamond Blackfan Anemia Recruiting NCT01464164 Phase 1, Phase 2
18 Improving the Results of Bone Marrow Transplantation for Patients With Severe Congenital Anemias Recruiting NCT00061568 Phase 2
19 CD34+ (Malignant) Stem Cell Selection for Patients Receiving Allogenic Stem Cell Transplant Recruiting NCT02061800 Phase 1, Phase 2
20 Treosulfan and Fludarabine Phosphate Before Donor Stem Cell Transplant in Treating Patients With Nonmalignant Inherited Disorders Recruiting NCT00919503 Phase 2
21 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2
22 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
23 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
24 Phase I/II Pilot Study of Mixed Chimerism to Treat Hemoglobinopathies Suspended NCT01419704 Phase 1, Phase 2
25 A Study to Determine Whether Therapy With Daclizumab Will Benefit Patients With Bone Marrow Failure Terminated NCT00001962 Phase 2
26 Allo-HCT MUD for Non-malignant Red Blood Cell (RBC) Disorders: Sickle Cell, Thal, and DBA: Reduced Intensity Conditioning, Co-tx MSCs Terminated NCT00957931 Phase 2
27 Related Hematopoietic Stem Cell Transplantation (HSCT) for Genetic Diseases of Blood Cells Terminated NCT02512679 Phase 2
28 Reduced Intensity Conditioning for Umbilical Cord Blood Transplant in Pediatric Patients With Non-Malignant Disorders Completed NCT00744692 Phase 1
29 BMT Abatacept for Non-Malignant Diseases Recruiting NCT01917708 Phase 1
30 Human Placental-Derived Stem Cell Transplantation Recruiting NCT01586455 Phase 1
31 Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant Diseases Recruiting NCT02231710 Phase 1
32 Multi-Center Study of Iron Overload: Survey Study (MCSIO) Unknown status NCT01913548
33 Multi-Center Study of Iron Overload: Pilot Study Unknown status NCT01114776
34 Partially Matched Stem Cell Transplantation for Patients With Refractory Severe Aplastic Anemia or Refractory Cytopenias Completed NCT00244010
35 Study of Allogeneic Bone Marrow Transplantation Using Matched, Related Donors in Patients With Nonmalignant Hematologic Disorders Completed NCT00005893
36 Stem Cell Transplantation (SCT) for Genetic Diseases Completed NCT00004378
37 Diamond Blackfan Anemia Registry (DBAR) Recruiting NCT00106015
38 Cancer in Inherited Bone Marrow Failure Syndromes Recruiting NCT00027274
39 CD34+ Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation for Non-Malignant Disease Recruiting NCT01966367
40 Hematopoietic Stem Cell Transplant for High Risk Hemoglobinopathies Recruiting NCT02179359
41 Bone Marrow and Kidney Transplant for Patients With Chronic Kidney Disease and Blood Disorders Recruiting NCT01758042
42 Investigation of the Genetics of Hematologic Diseases Recruiting NCT02720679
43 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
44 Fludarabine Based RIC for Bone Marrow Failure Syndromes Recruiting NCT02928991 Early Phase 1
45 Pilot Lenalidomide in Adult Diamond-Blackfan Anemia Patients w/ RBC Transfusion-Dependent Anemia Terminated NCT01034592
46 Donor Umbilical Cord Blood Transplant in Treating Patients With Hematologic Cancer Terminated NCT00290628
47 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation Terminated NCT01319851

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:

id Genetic test Affiliating Genes
1 Diamond-Blackfan Anemia 29 24 RPS7

Anatomical Context for Diamond-Blackfan Anemia

MalaCards organs/tissues related to Diamond-Blackfan Anemia:

39
Bone, Bone Marrow, Heart, T Cells, Colon, Pancreas

Publications for Diamond-Blackfan Anemia

Articles related to Diamond-Blackfan Anemia:

(show top 50) (show all 304)
id Title Authors Year
1
Molecular convergence in ex vivo models of Diamond Blackfan anemia. ( 28377399 )
2017
2
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
3
Novel 3q27.2-qter deletion in a patient with Diamond-Blackfan anemia and immunodeficiency: Case report and review of literature. ( 28432740 )
2017
4
Lentiviral Vectors with Cellular Promoters Correct Anemia and Lethal Bone Marrow Failure in a Mouse Model for Diamond-Blackfan Anemia. ( 28434866 )
2017
5
Drug discovery for Diamond-Blackfan anemia using reprogrammed hematopoietic progenitors. ( 28179501 )
2017
6
A novel pathogenic mutation in RPL11 identified in a patient diagnosed with diamond Blackfan anemia as a young adult. ( 27667165 )
2016
7
ALDH2 polymorphism in patients with Diamond-Blackfan anemia in Japan. ( 26608366 )
2016
8
Towards RNA Repair of Diamond-Blackfan Anemia Hematopoietic Stem Cells. ( 27550323 )
2016
9
Diamond Blackfan Anemia: A Nonclassical Patient With Diagnosis Assisted by Genomic Analysis. ( 27258031 )
2016
10
Diagnostic challenge of Diamond-Blackfan anemia in mothers and children by whole-exome sequencing. ( 27882484 )
2016
11
Transcriptome analysis reveals a ribosome constituents disorder involved in the RPL5 downregulated zebrafish model of Diamond-Blackfan anemia. ( 26961822 )
2016
12
Erythrocyte adenosine deaminase levels are elevated in Diamond Blackfan anemia but not in the 5q- syndrome. ( 27556864 )
2016
13
A Novel Mutation of Ribosomal Protein S19 Gene in a Chinese Child with Diamond-Blackfan Anemia. ( 27408399 )
2016
14
Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia. ( 27909223 )
2016
15
A de novo 1.6Mb microdeletion at 19q13.2 in a boy with Diamond-Blackfan anemia, global developmental delay and multiple congenital anomalies. ( 27486481 )
2016
16
Reduced-intensity conditioning and stem cell transplantation in infants with Diamond Blackfan anemia. ( 27927765 )
2016
17
Critical Diamond-Blackfan anemia due to ribosomal protein S19 missense mutation. ( 27601194 )
2016
18
Clinical features, mutations and treatment of 104 patients of Diamond-Blackfan anemia in China: a single-center retrospective study. ( 27329125 )
2016
19
Fanconi Syndrome Secondary to Deferasirox in Diamond-Blackfan Anemia: Case Series and Recommendations for Early Diagnosis. ( 27082377 )
2016
20
Delayed globin synthesis leads to excess heme and the macrocytic anemia of Diamond Blackfan anemia and del(5q) myelodysplastic syndrome. ( 27169803 )
2016
21
A new in-frame deletion in ribosomal protein S19 in a Chinese infant with Diamond-Blackfan anemia. ( 27732904 )
2016
22
The Stomatological Complications of Diamond-Blackfan Anemia: a Case Report. ( 26864506 )
2016
23
Erythrocyte glutathione is a novel biomarker of Diamond-Blackfan anemia. ( 27282564 )
2016
24
Correction: Mutation of the Diamond-Blackfan Anemia Gene Rps7 in Mouse Results in Morphological and Neuroanatomical Phenotypes. ( 26584186 )
2015
25
Occurrence of colon tumors in a 16-year-old Japanese boy after hematopoietic stem cell transplantation for Diamond Blackfan anemia at age of 4: a case report. ( 26191323 )
2015
26
Endocrine Dysfunction in Diamond-Blackfan Anemia (DBA): A Report from the DBA Registry (DBAR). ( 26496000 )
2015
27
RAP-011 improves erythropoiesis in zebrafish model of Diamond-Blackfan anemia through antagonizing lefty1. ( 26109203 )
2015
28
Elucidation of the EP defect in Diamond-Blackfan anemia by characterization and prospective isolation of human EPs. ( 25755292 )
2015
29
Successful use of reduced-intensity conditioning and matched-unrelated hematopoietic stem cell transplant in a child with Diamond-Blackfan anemia and cirrhosis. ( 26103586 )
2015
30
Adult-onset Diamond-Blackfan anemia with a novel mutation in the exon 5 of RPL11: too late and too rare. ( 26185635 )
2015
31
Partial Loss of Rpl11 in Adult Mice Recapitulates Diamond-Blackfan Anemia and Promotes Lymphomagenesis. ( 26489471 )
2015
32
Disruption of the 5S RNP-Mdm2 interaction significantly improves the erythroid defect in a mouse model for Diamond-Blackfan anemia. ( 25987256 )
2015
33
In-Depth, Label-Free Analysis of the Erythrocyte Cytoplasmic Proteome in Diamond Blackfan Anemia Identifies a Unique Inflammatory Signature. ( 26474164 )
2015
34
Growth hormone improves short stature in children with Diamond-Blackfan anemia. ( 25492299 )
2015
35
Dysregulation of the Transforming Growth Factor I^ Pathway in Induced Pluripotent Stem Cells Generated from Patients with Diamond Blackfan Anemia. ( 26258650 )
2015
36
Diamond-Blackfan Anemia: Death by Heme Toxicity? ( 26235290 )
2015
37
Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation. ( 25946618 )
2015
38
Alteration of heme metabolism in a cellular model of Diamond-Blackfan anemia. ( 26058344 )
2015
39
Ribosomal protein mutations in Korean patients with Diamond-Blackfan anemia. ( 24675553 )
2014
40
Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families. ( 24829207 )
2014
41
The role of the DNA damage response in zebrafish and cellular models of Diamond Blackfan anemia. ( 24812435 )
2014
42
p53-Independent cell cycle and erythroid differentiation defects in murine embryonic stem cells haploinsufficient for Diamond Blackfan anemia-proteins: RPS19 versus RPL5. ( 24558476 )
2014
43
Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28. ( 24942156 )
2014
44
Gene therapy cures the anemia and lethal bone marrow failure in mouse model for RPS19-deficient Diamond-Blackfan anemia. ( 25216681 )
2014
45
Transcriptome analysis of Rpl11-deficient zebrafish model of Diamond-Blackfan Anemia. ( 26484089 )
2014
46
Pearson marrow pancreas syndrome in patients suspected to have Diamond-Blackfan anemia. ( 24735966 )
2014
47
Altered translation of GATA1 in Diamond-Blackfan anemia. ( 24952648 )
2014
48
Diamond Blackfan anemia: a model for the translational approach to understanding human disease. ( 24665981 )
2014
49
Dysferlin and other non-red cell proteins accumulate in the red cell membrane of Diamond-Blackfan Anemia patients. ( 24454878 )
2014
50
Clinical phenotype and genetic analysis of RPS19, RPL5, and RPL11 genes in Greek patients with Diamond Blackfan Anemia. ( 25132370 )
2014

Variations for Diamond-Blackfan Anemia

ClinVar genetic disease variations for Diamond-Blackfan Anemia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 RPL5 NM_000969.4(RPL5): c.67C> T (p.Arg23Ter) single nucleotide variant Pathogenic rs121434405 GRCh37 Chromosome 1, 93299009: 93299009
2 RPL5 NM_000969.4(RPL5): c.418G> A (p.Gly140Ser) single nucleotide variant Pathogenic rs121434406 GRCh37 Chromosome 1, 93301840: 93301840
3 RPL5 RPL5, 2-BP DEL, 173GA deletion Pathogenic
4 RPL5 RPL5, 1-BP INS, 235T insertion Pathogenic
5 RPL5 RPL5, 5-BP DEL/39-BP INS, NT498 indel Pathogenic
6 RPL5 RPL5, IVS2DS, T-G, +2 single nucleotide variant Pathogenic
7 RPL5 NM_000969.4(RPL5): c.244G> T (p.Glu82Ter) single nucleotide variant Pathogenic rs587777117 GRCh37 Chromosome 1, 93300390: 93300390
8 RPL5 NM_000969.4(RPL5): c.664C> T (p.Gln222Ter) single nucleotide variant Pathogenic rs587777118 GRCh37 Chromosome 1, 93303149: 93303149
9 RPL5 NM_000969.4(RPL5): c.132C> G (p.Tyr44Ter) single nucleotide variant Pathogenic rs1060503527 GRCh38 Chromosome 1, 92833603: 92833603
10 RPS19 NM_001022.3(RPS19): c.382C> T (p.Gln128Ter) single nucleotide variant Likely pathogenic rs1060503688 GRCh38 Chromosome 19, 41869724: 41869724

Copy number variations for Diamond-Blackfan Anemia from CNVD:

7
id 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 GeneCards Suite gene sharing:

(show all 13)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.93 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
2
Show member pathways
13.68 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
3
Show member pathways
13.64 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
4
Show member pathways
13.57 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
5
Show member pathways
13.5 KITLG RPL11 RPL15 RPL26 RPL35A RPL5
6
Show member pathways
12.45 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
7
Show member pathways
12.27 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
8
Show member pathways
12.2 RPS10 RPS17 RPS19 RPS24 RPS26 RPS27
9 11.83 GATA1 IL3 KITLG
10 11.75 EPO IL3 KITLG
11 11.66 EPO IL3 KITLG
12 11.42 EPO GATA1 IL3 KITLG
13 11.33 EPO IL3 KITLG

GO Terms for Diamond-Blackfan Anemia

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 nucleolus GO:0005730 9.99 RPL11 RPL26 RPL5 RPS10 RPS19 RPS7
2 focal adhesion GO:0005925 9.93 RPL5 RPS10 RPS17 RPS19 RPS29 RPS7
3 extracellular matrix GO:0031012 9.88 RPL11 RPL35A RPS10 RPS17 RPS19 RPS7
4 intracellular ribonucleoprotein complex GO:0030529 9.8 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
5 cytosolic large ribosomal subunit GO:0022625 9.72 RPL11 RPL15 RPL26 RPL35A RPL5
6 small ribosomal subunit GO:0015935 9.67 RPS24 RPS26 RPS28 RPS29
7 cytosolic small ribosomal subunit GO:0022627 9.28 RPS10 RPS17 RPS19 RPS24 RPS26 RPS27
8 cytosol GO:0005829 10.34 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
9 nucleoplasm GO:0005654 10.26 GATA1 RPL11 RPL26 RPS10 RPS17 RPS19
10 extracellular exosome GO:0070062 10.21 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
11 intracellular GO:0005622 10.1 IL3 RPL11 RPL15 RPL26 RPL35A RPL5
12 ribosome GO:0005840 10 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10

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

(show all 23)
id Name GO ID Score Top Affiliating Genes
1 ribosomal small subunit biogenesis GO:0042274 9.83 RPS17 RPS19 RPS24 RPS28 RPS7
2 erythrocyte differentiation GO:0030218 9.8 EPO FLVCR1 GATA1 RPS19
3 ribosomal small subunit assembly GO:0000028 9.8 RPS10 RPS17 RPS19 RPS27 RPS28
4 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO:0000184 9.8 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
5 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.76 GATA1 IL3 KITLG
6 ribosomal large subunit biogenesis GO:0042273 9.76 RPL11 RPL26 RPL35A RPL5
7 positive regulation of DNA replication GO:0045740 9.73 EPO IL3 KITLG
8 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) GO:0000462 9.72 RPS19 RPS24 TSR2
9 embryonic hemopoiesis GO:0035162 9.7 GATA1 IL3 KITLG
10 negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process GO:2000059 9.69 RPL11 RPL5 RPS7
11 negative regulation of ubiquitin protein ligase activity GO:1904667 9.65 RPL11 RPL5 RPS7
12 positive regulation of Ras protein signal transduction GO:0046579 9.61 EPO KITLG
13 ribosomal large subunit assembly GO:0000027 9.61 RPL11 RPL5
14 positive regulation of tyrosine phosphorylation of Stat5 protein GO:0042523 9.6 EPO IL3
15 maturation of SSU-rRNA GO:0030490 9.59 RPS19 RPS28
16 erythrocyte maturation GO:0043249 9.58 EPO FLVCR1
17 erythrocyte homeostasis GO:0034101 9.57 RPS17 RPS24
18 negative regulation of protein neddylation GO:2000435 9.54 RPL11 RPL5
19 SRP-dependent cotranslational protein targeting to membrane GO:0006614 9.47 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
20 rRNA processing GO:0006364 10.24 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
21 viral transcription GO:0019083 10.17 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
22 translation GO:0006412 10.1 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
23 translational initiation GO:0006413 10 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10

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

id Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.77 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
2 structural constituent of ribosome GO:0003735 9.47 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
3 mRNA 5-UTR binding GO:0048027 9.43 RPL26 RPL5 RPS7
4 ubiquitin ligase inhibitor activity GO:1990948 9.33 RPL11 RPL5 RPS7
5 5S rRNA binding GO:0008097 9.32 RPL11 RPL5
6 protein binding GO:0005515 10.27 EPO FLVCR1 GATA1 KITLG RPL11 RPL15

Sources for Diamond-Blackfan Anemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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