MCID: DMN001
MIFTS: 70

Diamond-Blackfan Anemia

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

Aliases & Classifications for Diamond-Blackfan Anemia

MalaCards integrated aliases for Diamond-Blackfan Anemia:

Name: Diamond-Blackfan Anemia 37 12 23 49 24 36 28 51 14
Congenital Pure Red Cell Aplasia 49 24 55 51
Aase Syndrome 49 24 55 69
Erythrogenesis Imperfecta 49 24 69
Congenital Hypoplastic Anemia, Blackfan-Diamond Type 49 55
Congenital Hypoplastic Anemia 49 69
Anemia, Diamond-Blackfan 41 69
Blackfan-Diamond Anemia 49 55
Aase-Smith Ii Syndrome 49 55
Congenital Prca 49 55
Dba 49 24
Bds 49 24
Congenital Hypoplastic Anemia of Blackfan and Diamond 24
Chronic Constitutional Pure Red Cell Anaemia 12
Anemia Congenital Erythroid Hypoplastic 49
Aregenerative Anemia Chronic Congenital 49
Congenital Erythroid Hypoplastic Anemia 24
Chronic Congenital Agenerative Anemia 24
Red Cell Aplasia, Pure Hereditary 49
Pure Hereditary Red Cell Aplasia 24
Congenital Pure Red Cell Anemia 24
Hypoplastic Congenital Anemia 24
Anemia Hypoplastic Congenital 51
Anemia Diamond Blackfan Type 49
Inherited Erythroblastopenia 24
Blackfan - Diamond Syndrome 12
Diamond-Blackfan Anemia 1 69
Blackfan-Diamond Syndrome 24
Blackfan Diamond Syndrome 49
Blackfan-Diamond Disease 24
Blackfan Diamond Anemia 24
Aase-Smith Syndrome Ii 24
Aase Smith Syndrome 2 69
Bda 24

Characteristics:

Orphanet epidemiological data:

55
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 32 D61.01
MeSH 41 D029503
NCIt 46 C61236
Orphanet 55 ORPHA124
MESH via Orphanet 42 D029503
UMLS via Orphanet 70 C1260899 C2931850
ICD10 via Orphanet 33 D61.0
KEGG 36 H00237

Summaries for Diamond-Blackfan Anemia

NIH Rare Diseases : 49 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.  Last updated: 12/1/2017

MalaCards based summary : Diamond-Blackfan Anemia, also known as congenital pure red cell aplasia, is related to diamond-blackfan anemia 15 with mandibulofacial dysostosis and diamond-blackfan anemia 1, and has symptoms including abnormality of the genital system, abnormality of the urinary system and cleft palate. 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 marrow, bone and heart, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

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 : 24 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).

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

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

(show top 50) (show all 68)
# Related Disease Score Top Affiliating Genes
1 diamond-blackfan anemia 15 with mandibulofacial dysostosis 34.8 RPS26 RPS28 TSR2
2 diamond-blackfan anemia 1 34.7 RPL5 RPS19
3 congenital hypoplastic anemia 30.7 RPL11 RPL5 RPS17 RPS19
4 macrocytic anemia 30.0 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
5 diamond-blackfan anemia 3 12.7
6 diamond-blackfan anemia 4 12.7
7 diamond-blackfan anemia 5 12.7
8 diamond-blackfan anemia 7 12.7
9 diamond-blackfan anemia 8 12.7
10 diamond-blackfan anemia 9 12.7
11 diamond-blackfan anemia 10 12.7
12 diamond-blackfan anemia 11 12.7
13 diamond-blackfan anemia 6 12.7
14 diamond-blackfan anemia 12 12.7
15 diamond-blackfan anemia 13 12.7
16 diamond-blackfan anemia 14 with mandibulofacial dysostosis 12.7
17 diamond-blackfan anemia 16 12.7
18 diamond-blackfan anemia 17 12.7
19 diamond-blackfan anemia 2 12.6
20 behcet syndrome 11.6
21 binswanger's disease 11.2
22 dementia - subcortical 11.2
23 subcortical arteriosclerotic encephalopathy 11.2
24 intellectual disability - athetosis - microphthalmia 11.2
25 boomerang dysplasia 11.2
26 hematopoietic stem cell transplantation 10.5
27 cleft palate, isolated 10.4
28 chromosome 5q deletion syndrome 10.4
29 hydrops fetalis, nonimmune, and/or atrial septal defect 10.4
30 hydrops fetalis 10.4
31 osteogenic sarcoma 10.3
32 sarcoma 10.3
33 shwachman-diamond syndrome 10.3
34 thalassemia 10.3
35 lymphoma 10.3
36 klippel-feil syndrome 10.3
37 irregular astigmatism 10.2 RPS27 RPS29
38 hypertelorism 10.1
39 treacher collins syndrome 1 10.1
40 x-ray sensitivity 10.1
41 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 10.1
42 lymphoma, hodgkin, classic 10.1
43 johanson-blizzard syndrome 10.1
44 cartilage-hair hypoplasia 10.1
45 muscular dystrophy, duchenne type 10.1
46 aging 10.1
47 pearson marrow-pancreas syndrome 10.1
48 aplastic anemia 10.1
49 beta-thalassemia 10.1
50 myelodysplastic syndrome 10.1

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:

55 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the genital system 55 31 frequent (33%) Frequent (79-30%) HP:0000078
2 abnormality of the urinary system 55 31 frequent (33%) Frequent (79-30%) HP:0000079
3 cleft palate 55 31 frequent (33%) Frequent (79-30%) HP:0000175
4 thick lower lip vermilion 55 31 occasional (7.5%) Occasional (29-5%) HP:0000179
5 depressed nasal ridge 55 31 occasional (7.5%) Occasional (29-5%) HP:0000457
6 delayed puberty 55 31 frequent (33%) Frequent (79-30%) HP:0000823
7 pallor 55 31 hallmark (90%) Very frequent (99-80%) HP:0000980
8 abnormality of the hand 55 31 frequent (33%) Frequent (79-30%) HP:0001155
9 macrocytic anemia 55 31 frequent (33%) Frequent (79-30%) HP:0001972
10 migraine 55 31 frequent (33%) Frequent (79-30%) HP:0002076
11 acute leukemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002488
12 short nose 55 31 occasional (7.5%) Occasional (29-5%) HP:0003196
13 short stature 55 31 occasional (7.5%) Occasional (29-5%) HP:0004322
14 arrhythmia 55 31 hallmark (90%) Very frequent (99-80%) HP:0011675
15 fatigue 55 31 frequent (33%) Frequent (79-30%) HP:0012378
16 growth delay 55 Very frequent (99-80%)
17 anemia 55 Very frequent (99-80%)
18 neoplasm 55 Occasional (29-5%)

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

25 (show all 33)
# 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 RPS19 RPS17 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 RPS19 RPS17 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 RPS19 RPS17
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 viability GR00106-A-0 10.45 RPL5 RPS19 RPS17 RPS7 RPS29
18 Decreased viability GR00240-S-1 10.45 RPL15 RPS28
19 Decreased viability GR00381-A-1 10.45 RPL11 RPL27 RPL15 RPL18 RPS19 RPL35A
20 Decreased NF-kappaB reporter expression GR00312-A 10.4 RPL26 RPL27 RPL15 RPL35 RPL18 RPL11
21 FOXO1 nuclear localization GR00247-A-1 10.36 RPL11 RPL15 RPS7 RPS24
22 FOXO1 nuclear localization GR00247-A-2 10.36 RPL11 RPL15 RPS7 RPS24
23 Increased G1 DNA content GR00098-A-1 10.24 RPL27 RPL15 GATA1 RPL18 RPL11 RPL26
24 Decreased viability of wild-type and TP53 knockout cells GR00196-A-1 10.18 RPL15 RPL35 RPL18 RPL11 RPL5 RPS10
25 Increased viability GR00386-A-1 10.17 RPL26 RPL27 RPL15 RPL18 RPL11 RPL5
26 G0/1 arrest GR00098-A-2 10.09 RPL27 RPL18 RPL11 RPS19 RPL35A RPS26
27 Decreased Hepatitis C virus replication GR00180-A-1 10.01 RPS19 RPS26 RPS7 RPS28 RPS24 RPS29
28 Decreased cell number GR00303-A 9.95 RPL35 RPL11 RPL5 RPS19 RPS29
29 Negative genetic interaction between KRASG13D/+ and KRAS+/- GR00255-A-5 9.91 RPL27 RPL15 RPL35 RPL11 RPS19 RPS17
30 HIV Rev nuclear localization GR00247-A-3 9.71 RPL15 RPL11 RPS7 RPS24
31 Nuclear 40S maturation defects GR00209-A-2 9.63 RPL11 RPS10 RPS17 RPS26 RPS28 RPS29
32 Nuclear 60S biogenesis defects GR00209-A-3 9.5 RPL27 RPL35 RPL18 RPL11 RPL26 RPL35A
33 Nucleoplasmic pre-40S maturation defects GR00209-A-1 9.5 RPL27 RPL35 RPL18 RPL11 RPL26 RPS10

Drugs & Therapeutics for Diamond-Blackfan Anemia

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

(show top 50) (show all 87)
# 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 Iron Chelating Agents Phase 4,Phase 3,Phase 2
6 Micronutrients Phase 4,Phase 3,Phase 2
7 Trace Elements Phase 4,Phase 3,Phase 2
8
Busulfan Approved, Investigational Phase 2, Phase 3, Phase 1, Early Phase 1 55-98-1 2478
9
Fludarabine Approved Phase 2, Phase 3, Phase 1, Early Phase 1 21679-14-1, 75607-67-9 30751
10
Vidarabine Approved, Investigational Phase 2, Phase 3, Early Phase 1 24356-66-9 21704 32326
11
alemtuzumab Approved, Investigational Phase 2, Phase 3,Phase 1,Early Phase 1 216503-57-0
12
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 1,Early Phase 1 50-18-0, 6055-19-2 2907
13
Lenograstim Approved, Investigational Phase 2, Phase 3 135968-09-1
14 Orange Approved, Nutraceutical Phase 3
15 Alkylating Agents Phase 2, Phase 3, Phase 1, Early Phase 1
16 Anti-Infective Agents Phase 2, Phase 3, Phase 1, Early Phase 1
17 Antilymphocyte Serum Phase 2, Phase 3, Phase 1
18 Antimetabolites Phase 2, Phase 3, Phase 1, Early Phase 1
19 Antimetabolites, Antineoplastic Phase 2, Phase 3, Phase 1, Early Phase 1
20 Antiviral Agents Phase 2, Phase 3, Early Phase 1
21 Immunosuppressive Agents Phase 2, Phase 3, Phase 1, Early Phase 1
22 Adjuvants, Immunologic Phase 2, Phase 3
23 Antirheumatic Agents Phase 2, Phase 3,Phase 1,Early Phase 1
24
rituximab Approved Phase 2 174722-31-7 10201696
25
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
26
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
27
Methylprednisolone Approved, Vet_approved Phase 2,Phase 1 83-43-2 6741
28
Prednisolone Approved, Vet_approved Phase 2,Phase 1 50-24-8 5755
29
Deferoxamine Approved, Investigational Phase 2 70-51-9 2973
30
Deferiprone Approved Phase 2 30652-11-0 2972
31
Melphalan Approved Phase 1, Phase 2, Early Phase 1 148-82-3 460612 4053
32 Thiotepa Approved, Investigational Phase 1, Phase 2 52-24-4 5453
33
Hydroxyurea Approved Phase 2,Phase 1 127-07-1 3657
34
Mycophenolate mofetil Approved, Investigational Phase 2,Phase 1 128794-94-5 5281078
35
Mycophenolic acid Approved Phase 2,Phase 1 24280-93-1 446541
36
Prednisone Approved, Vet_approved Phase 1, Phase 2 53-03-2 5865
37
Everolimus Approved Phase 2,Phase 1 159351-69-6 6442177
38
Sirolimus Approved, Investigational Phase 2,Phase 1 53123-88-9 46835353 6436030 5284616
39
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492
40
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
41
Daclizumab Approved, Investigational Phase 2 152923-56-3
42
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
43
leucovorin Approved, Nutraceutical Phase 2 58-05-9 143 6006
44
Treosulfan Investigational Phase 2 299-75-2 9296
45 Antibodies Phase 2
46 Antibodies, Monoclonal Phase 2
47 Immunoglobulins Phase 2
48 Antifungal Agents Phase 2
49 Calcineurin Inhibitors Phase 2,Phase 1
50 Cyclosporins Phase 2,Phase 1

Interventional clinical trials:

(show all 48)

# 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 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
12 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
13 Study of Deferasirox in Iron Overload From Beta-thalassemia Unable to be Treated With Deferoxamine or Chronic Anemias Completed NCT00061763 Phase 2 Deferasirox
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 busulfan;fludarabine phosphate
15 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
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 ICL670
17 Safety and Efficacy Study of Sotatercept in Adults With Transfusion Dependent Diamond Blackfan Anemia Recruiting NCT01464164 Phase 1, Phase 2 Sotatercept;Sotatercept with prednisone boost
18 Improving the Results of Bone Marrow Transplantation for Patients With Severe Congenital Anemias Recruiting NCT00061568 Phase 2 Alemtuzumab (Campath );Sirolimus (Rapamune )
19 Fludarabine Phosphate, Cyclophosphamide, Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Blood Cancer Recruiting NCT03333486 Phase 2 Cyclophosphamide;Fludarabine Phosphate
20 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
21 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
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 leucine
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 fludarabine phosphate;melphalan;tacrolimus;mycophenolate mofetil;methotrexate
24 Phase I/II Pilot Study of Mixed Chimerism to Treat Hemoglobinopathies Suspended NCT01419704 Phase 1, Phase 2
25 Treosulfan and Fludarabine Phosphate Before Donor Stem Cell Transplant in Treating Patients With Nonmalignant Inherited Disorders Suspended NCT00919503 Phase 2 Cyclosporine;Fludarabine Phosphate;Methotrexate;Mycophenolate Mofetil;Tacrolimus;Treosulfan
26 A Study to Determine Whether Therapy With Daclizumab Will Benefit Patients With Bone Marrow Failure Terminated NCT00001962 Phase 2 Daclizumab
27 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
28 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
29 Reduced Intensity Conditioning for Umbilical Cord Blood Transplant in Pediatric Patients With Non-Malignant Disorders Completed NCT00744692 Phase 1 Reduced Intensity Conditioning
30 BMT Abatacept for Non-Malignant Diseases Recruiting NCT01917708 Phase 1 Abatacept
31 Human Placental-Derived Stem Cell Transplantation Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
32 Pilot Lenalidomide in Adult Diamond-Blackfan Anemia Patients w/ RBC Transfusion-Dependent Anemia Terminated NCT01034592 Phase 1 Lenalidomide
33 Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant Diseases Terminated NCT02231710 Phase 1
34 Multi-Center Study of Iron Overload: Survey Study (MCSIO) Unknown status NCT01913548
35 Multi-Center Study of Iron Overload: Pilot Study Unknown status NCT01114776
36 Partially Matched Stem Cell Transplantation for Patients With Refractory Severe Aplastic Anemia or Refractory Cytopenias Completed NCT00244010
37 Study of Allogeneic Bone Marrow Transplantation Using Matched, Related Donors in Patients With Nonmalignant Hematologic Disorders Completed NCT00005893 anti-thymocyte globulin;busulfan;cyclophosphamide
38 Stem Cell Transplantation (SCT) for Genetic Diseases Completed NCT00004378
39 Diamond Blackfan Anemia Registry (DBAR) Recruiting NCT00106015
40 Cancer in Inherited Bone Marrow Failure Syndromes Recruiting NCT00027274
41 CD34+ (Non-Malignant) Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation Recruiting NCT01966367 Early Phase 1
42 Fludarabine Based RIC for Bone Marrow Failure Syndromes Recruiting NCT02928991 Early Phase 1
43 Hematopoietic Stem Cell Transplant for High Risk Hemoglobinopathies Recruiting NCT02179359 Reduced Toxicity Ablative Regimen;Reduced Intensity Preparative Regimen;Myeloablative Preparative Regimen
44 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
45 Investigation of the Genetics of Hematologic Diseases Recruiting NCT02720679
46 Bone Marrow and Kidney Transplant for Patients With Chronic Kidney Disease and Blood Disorders Recruiting NCT01758042
47 Donor Umbilical Cord Blood Transplant in Treating Patients With Hematologic Cancer Terminated NCT00290628 anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;filgrastim;melphalan;methylprednisolone;mycophenolate mofetil
48 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation Terminated NCT01319851 Alefacept

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 28

Anatomical Context for Diamond-Blackfan Anemia

MalaCards organs/tissues related to Diamond-Blackfan Anemia:

38
Bone Marrow, Bone, Heart, Eye, Liver, Kidney, T Cells

Publications for Diamond-Blackfan Anemia

Articles related to Diamond-Blackfan Anemia:

(show top 50) (show all 316)
# Title Authors Year
1
Concise Review: Advanced Cell Culture Models for Diamond Blackfan Anemia and Other Erythroid Disorders. ( 29124822 )
2018
2
Molecular analysis and genotype-phenotype correlation of Diamond-Blackfan anemia. ( 29044489 )
2018
3
Perspective on Diamond-Blackfan anemia: lessons from a rare congenital bone marrow failure syndrome. ( 29182601 )
2018
4
Pediatric Diamond-Blackfan anemia in the Netherlands: An overview of clinical characteristics and underlying molecular defects. ( 29114930 )
2018
5
Cross talk between TP53 and c-Myc in the pathophysiology of Diamond-Blackfan anemia: Evidence from RPL11-deficient inA vivo and inA vitro models. ( 29225165 )
2018
6
Molecular convergence in ex vivo models of Diamond Blackfan anemia. ( 28377399 )
2017
7
Discrimination of Diamond-Blackfan anemia from parvovirus B19 infection by RBC glutathione. ( 28745457 )
2017
8
Successful long-term management with low-dose prednisolone in an adult patient with Diamond-Blackfan anemia. ( 28883274 )
2017
9
Molecular approaches to diagnose Diamond-Blackfan anemia: The EuroDBA experience. ( 29081386 )
2017
10
Drug discovery for Diamond-Blackfan anemia using reprogrammed hematopoietic progenitors. ( 28179501 )
2017
11
Lentiviral Vectors with Cellular Promoters Correct Anemia and Lethal Bone Marrow Failure in a Mouse Model for Diamond-Blackfan Anemia. ( 28434866 )
2017
12
The severe phenotype of Diamond-Blackfan anemia is modulated by heat shock protein 70. ( 29296843 )
2017
13
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
14
Self-reverting mutations partially correct the blood phenotype in a Diamond Blackfan anemia patient. ( 28971907 )
2017
15
Variable expressivity and incomplete penetrance in a large family with non-classical Diamond-Blackfan anemia associated with ribosomal protein L11 splicing variant. ( 28742285 )
2017
16
Confounding in ex vivo models of Diamond-Blackfan anemia. ( 28615220 )
2017
17
Novel 3q27.2-qter deletion in a patient with Diamond-Blackfan anemia and immunodeficiency: Case report and review of literature. ( 28432740 )
2017
18
Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia. ( 27909223 )
2016
19
A novel pathogenic mutation in RPL11 identified in a patient diagnosed with diamond Blackfan anemia as a young adult. ( 27667165 )
2016
20
Diamond Blackfan Anemia: A Nonclassical Patient With Diagnosis Assisted by Genomic Analysis. ( 27258031 )
2016
21
A new in-frame deletion in ribosomal protein S19 in a Chinese infant with Diamond-Blackfan anemia. ( 27732904 )
2016
22
Critical Diamond-Blackfan anemia due to ribosomal protein S19 missense mutation. ( 27601194 )
2016
23
Towards RNA Repair of Diamond-Blackfan Anemia Hematopoietic Stem Cells. ( 27550323 )
2016
24
Erythrocyte adenosine deaminase levels are elevated in Diamond Blackfan anemia but not in the 5q- syndrome. ( 27556864 )
2016
25
Diagnostic challenge of Diamond-Blackfan anemia in mothers and children by whole-exome sequencing. ( 27882484 )
2016
26
Erythrocyte glutathione is a novel biomarker of Diamond-Blackfan anemia. ( 27282564 )
2016
27
Clinical features, mutations and treatment of 104 patients of Diamond-Blackfan anemia in China: a single-center retrospective study. ( 27329125 )
2016
28
Fanconi Syndrome Secondary to Deferasirox in Diamond-Blackfan Anemia: Case Series and Recommendations for Early Diagnosis. ( 27082377 )
2016
29
Delayed globin synthesis leads to excess heme and the macrocytic anemia of Diamond Blackfan anemia and del(5q) myelodysplastic syndrome. ( 27169803 )
2016
30
Transcriptome analysis reveals a ribosome constituents disorder involved in the RPL5 downregulated zebrafish model of Diamond-Blackfan anemia. ( 26961822 )
2016
31
Reduced-intensity conditioning and stem cell transplantation in infants with Diamond Blackfan anemia. ( 27927765 )
2016
32
ALDH2 polymorphism in patients with Diamond-Blackfan anemia in Japan. ( 26608366 )
2016
33
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
34
The Stomatological Complications of Diamond-Blackfan Anemia: a Case Report. ( 26864506 )
2016
35
A Novel Mutation of Ribosomal Protein S19 Gene in a Chinese Child with Diamond-Blackfan Anemia. ( 27408399 )
2016
36
Correction: Mutation of the Diamond-Blackfan Anemia Gene Rps7 in Mouse Results in Morphological and Neuroanatomical Phenotypes. ( 26584186 )
2015
37
Dysregulation of the Transforming Growth Factor I^ Pathway in Induced Pluripotent Stem Cells Generated from Patients with Diamond Blackfan Anemia. ( 26258650 )
2015
38
Elucidation of the EP defect in Diamond-Blackfan anemia by characterization and prospective isolation of human EPs. ( 25755292 )
2015
39
Growth hormone improves short stature in children with Diamond-Blackfan anemia. ( 25492299 )
2015
40
Disruption of the 5S RNP-Mdm2 interaction significantly improves the erythroid defect in a mouse model for Diamond-Blackfan anemia. ( 25987256 )
2015
41
Partial Loss of Rpl11 in Adult Mice Recapitulates Diamond-Blackfan Anemia and Promotes Lymphomagenesis. ( 26489471 )
2015
42
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
43
Alteration of heme metabolism in a cellular model of Diamond-Blackfan anemia. ( 26058344 )
2015
44
In-Depth, Label-Free Analysis of the Erythrocyte Cytoplasmic Proteome in Diamond Blackfan Anemia Identifies a Unique Inflammatory Signature. ( 26474164 )
2015
45
Endocrine Dysfunction in Diamond-Blackfan Anemia (DBA): A Report from the DBA Registry (DBAR). ( 26496000 )
2015
46
Adult-onset Diamond-Blackfan anemia with a novel mutation in the exon 5 of RPL11: too late and too rare. ( 26185635 )
2015
47
Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation. ( 25946618 )
2015
48
Successful use of reduced-intensity conditioning and matched-unrelated hematopoietic stem cell transplant in a child with Diamond-Blackfan anemia and cirrhosis. ( 26103586 )
2015
49
RAP-011 improves erythropoiesis in zebrafish model of Diamond-Blackfan anemia through antagonizing lefty1. ( 26109203 )
2015
50
Diamond-Blackfan Anemia: Death by Heme Toxicity? ( 26235290 )
2015

Variations for Diamond-Blackfan Anemia

ClinVar genetic disease variations for Diamond-Blackfan Anemia:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 RPL5 NM_000969.4(RPL5): c.244G> T (p.Glu82Ter) single nucleotide variant Pathogenic rs587777117 GRCh37 Chromosome 1, 93300390: 93300390
2 RPL5 NM_000969.4(RPL5): c.664C> T (p.Gln222Ter) single nucleotide variant Pathogenic rs587777118 GRCh37 Chromosome 1, 93303149: 93303149
3 RPL5 NM_000969.4(RPL5): c.67C> T (p.Arg23Ter) single nucleotide variant Pathogenic rs121434405 GRCh37 Chromosome 1, 93299009: 93299009
4 RPL5 RPL5, 2-BP DEL, 173GA deletion Pathogenic
5 RPL5 RPL5, 1-BP INS, 235T insertion Pathogenic
6 RPL5 RPL5, 5-BP DEL/39-BP INS, NT498 indel Pathogenic
7 RPL5 RPL5, IVS2DS, T-G, +2 single nucleotide variant Pathogenic
8 RPS24 NM_033022.3(RPS24): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs886039545 GRCh38 Chromosome 10, 78033902: 78033902
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
11 RPL5 NM_000969.4(RPL5): c.256dup (p.Tyr86Leufs) duplication Pathogenic GRCh38 Chromosome 1, 92834845: 92834845
12 subset of 56 genes:TP53 NC_000017.11: g.(?_7669603)_(8382316_?)del deletion Pathogenic GRCh37 Chromosome 17, 7572921: 8285634
13 RPS19 NM_001022.3(RPS19): c.185G> A (p.Arg62Gln) single nucleotide variant Pathogenic GRCh37 Chromosome 19, 42373113: 42373113
14 RPS19 NM_001022.3(RPS19): c.296_297dup (p.Ala100Trpfs) duplication Pathogenic GRCh37 Chromosome 19, 42373224: 42373225
15 GATA1 NM_002049.3(GATA1): c.89C> G (p.Ser30Ter) single nucleotide variant Pathogenic GRCh38 Chromosome X, 48791198: 48791198
16 GATA1 NM_002049.3(GATA1): c.21delG (p.Ser8Profs) deletion Pathogenic GRCh38 Chromosome X, 48791130: 48791130

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:

36
# 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
13.99 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35
2
Show member pathways
13.73 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35
3
Show member pathways
13.68 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35
4
Show member pathways
13.59 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35
5
Show member pathways
13.46 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 RPS17 RPS19 RPS24 RPS26 RPS27
8
Show member pathways
12.36 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35

GO Terms for Diamond-Blackfan Anemia

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 focal adhesion GO:0005925 9.97 RPL18 RPL27 RPL5 RPS10 RPS17 RPS19
2 cytosolic large ribosomal subunit GO:0022625 9.92 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35
3 ribosome GO:0005840 9.89 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35
4 small ribosomal subunit GO:0015935 9.73 RPS24 RPS26 RPS28 RPS29
5 cytosolic small ribosomal subunit GO:0022627 9.28 RPS10 RPS17 RPS19 RPS24 RPS26 RPS27
6 cytosol GO:0005829 10.33 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35
7 nucleoplasm GO:0005654 10.31 GATA1 RPL11 RPL26 RPL5 RPS10 RPS17
8 extracellular exosome GO:0070062 10.29 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
9 intracellular GO:0005622 10.16 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35
10 nucleolus GO:0005730 10.11 RPL11 RPL18 RPL26 RPL35 RPL5 RPS10
11 intracellular ribonucleoprotein complex GO:0030529 10.09 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35
12 extracellular matrix GO:0031012 10 RPL11 RPL27 RPL35A RPS10 RPS17 RPS19

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 translational initiation GO:0006413 9.89 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35
2 ribosomal small subunit biogenesis GO:0042274 9.83 RPS17 RPS19 RPS24 RPS28 RPS7
3 ribosomal small subunit assembly GO:0000028 9.8 RPS10 RPS17 RPS19 RPS27 RPS28
4 ribosomal large subunit biogenesis GO:0042273 9.78 RPL11 RPL26 RPL35A RPL5
5 cytoplasmic translation GO:0002181 9.76 RPL15 RPL26 RPL35A RPS7
6 protein stabilization GO:0050821 9.75 RPL11 RPL5 RPS7
7 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) GO:0000462 9.7 RPS19 RPS24 TSR2
8 negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process GO:2000059 9.69 RPL11 RPL5 RPS7
9 negative regulation of ubiquitin protein ligase activity GO:1904667 9.67 RPL11 RPL5 RPS7
10 ribosomal large subunit assembly GO:0000027 9.57 RPL11 RPL5
11 maturation of SSU-rRNA GO:0030490 9.56 RPS19 RPS28
12 erythrocyte homeostasis GO:0034101 9.55 RPS17 RPS24
13 SRP-dependent cotranslational protein targeting to membrane GO:0006614 9.55 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35
14 negative regulation of protein neddylation GO:2000435 9.54 RPL11 RPL5
15 rRNA processing GO:0006364 10.32 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35
16 viral transcription GO:0019083 10.25 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35
17 translation GO:0006412 10.19 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35
18 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO:0000184 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 9.86 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35
2 structural constituent of ribosome GO:0003735 9.55 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35
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

Sources for Diamond-Blackfan Anemia

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