MCID: DMN001
MIFTS: 69

Diamond-Blackfan Anemia

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

Aliases & Classifications for Diamond-Blackfan Anemia

MalaCards integrated aliases for Diamond-Blackfan Anemia:

Name: Diamond-Blackfan Anemia 38 12 24 53 25 37 29 55 6 15
Congenital Pure Red Cell Aplasia 53 25 59 55
Aase Syndrome 53 25 59 73
Erythrogenesis Imperfecta 53 25 73
Anemia, Diamond-Blackfan 44 40 73
Congenital Hypoplastic Anemia, Blackfan-Diamond Type 53 59
Congenital Hypoplastic Anemia 53 73
Blackfan-Diamond Anemia 53 59
Aase-Smith Ii Syndrome 53 59
Congenital Prca 53 59
Dba 53 25
Bds 53 25
Congenital Hypoplastic Anemia of Blackfan and Diamond 25
Chronic Constitutional Pure Red Cell Anaemia 12
Anemia Congenital Erythroid Hypoplastic 53
Aregenerative Anemia Chronic Congenital 53
Congenital Erythroid Hypoplastic Anemia 25
Chronic Congenital Agenerative Anemia 25
Red Cell Aplasia, Pure Hereditary 53
Pure Hereditary Red Cell Aplasia 25
Congenital Pure Red Cell Anemia 25
Hypoplastic Congenital Anemia 25
Anemia Hypoplastic Congenital 55
Anemia Diamond Blackfan Type 53
Inherited Erythroblastopenia 25
Blackfan - Diamond Syndrome 12
Diamond-Blackfan Anemia 1 73
Blackfan-Diamond Syndrome 25
Blackfan Diamond Syndrome 53
Blackfan-Diamond Disease 25
Blackfan Diamond Anemia 25
Aase-Smith Syndrome Ii 25
Aase Smith Syndrome 2 73
Bda 25

Characteristics:

Orphanet epidemiological data:

59
blackfan-diamond anemia
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood,Infancy,Neonatal; Age of death: any age;

GeneReviews:

24
Penetrance Penetrance is incomplete...

Classifications:



External Ids:

Disease Ontology 12 DOID:1339
ICD10 33 D61.01
MeSH 44 D029503
NCIt 50 C61236
Orphanet 59 ORPHA124
ICD10 via Orphanet 34 D61.0
MESH via Orphanet 45 D029503
UMLS via Orphanet 74 C1260899 C2931850
KEGG 37 H00237

Summaries for Diamond-Blackfan Anemia

NIH Rare Diseases : 53 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 marrow, bone and heart, and related phenotypes are abnormality of the genital system and abnormality of the urinary system

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.

Wikipedia : 76 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

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

(showing 74, show less)
# Related Disease Score Top Affiliating Genes
1 diamond-blackfan anemia 1 35.3 RPL5 RPS19
2 diamond-blackfan anemia 15 with mandibulofacial dysostosis 35.3 RPS26 RPS28 TSR2
3 congenital hypoplastic anemia 31.4 RPL11 RPL5 RPS17 RPS19
4 aplastic anemia 31.2 GATA1 RPL5 RPS17 RPS19
5 macrocytic anemia 30.2 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
6 diamond-blackfan anemia 3 12.7
7 diamond-blackfan anemia 4 12.7
8 diamond-blackfan anemia 5 12.7
9 diamond-blackfan anemia 7 12.7
10 diamond-blackfan anemia 8 12.7
11 diamond-blackfan anemia 9 12.7
12 diamond-blackfan anemia 10 12.7
13 diamond-blackfan anemia 11 12.7
14 diamond-blackfan anemia 12 12.7
15 diamond-blackfan anemia 6 12.7
16 diamond-blackfan anemia 13 12.7
17 diamond-blackfan anemia 14 with mandibulofacial dysostosis 12.7
18 diamond-blackfan anemia 16 12.7
19 diamond-blackfan anemia 17 12.7
20 diamond-blackfan anemia 2 12.6
21 diamond-blackfan anemia-like 12.3
22 behcet syndrome 11.6
23 binswanger's disease 11.2
24 dementia - subcortical 11.2
25 subcortical arteriosclerotic encephalopathy 11.2
26 intellectual disability - athetosis - microphthalmia 11.2
27 boomerang dysplasia 11.2
28 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech 11.1
29 irregular astigmatism 10.6 RPS27 RPS29
30 hydrops fetalis, nonimmune, and/or atrial septal defect 10.5
31 hematopoietic stem cell transplantation 10.5
32 fetal edema 10.5
33 hydrops fetalis 10.5
34 cardiomyopathy, familial hypertrophic, 20 10.4 RPS26 RPS29
35 cleft palate, isolated 10.4
36 chromosome 5q deletion syndrome 10.4
37 osteogenic sarcoma 10.3
38 sarcoma 10.3
39 heart disease 10.3
40 shwachman-diamond syndrome 1 10.3
41 thalassemia 10.3
42 lymphoma 10.3
43 klippel-feil syndrome 10.3
44 hypertelorism 10.1
45 treacher collins syndrome 1 10.1
46 lymphoma, hodgkin, classic 10.1
47 johanson-blizzard syndrome 10.1
48 cartilage-hair hypoplasia 10.1
49 muscular dystrophy, duchenne type 10.1
50 aging 10.1
51 pearson marrow-pancreas syndrome 10.1
52 beta-thalassemia 10.1
53 myelodysplastic syndrome 10.1
54 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.1
55 leukemia 10.1
56 thrombosis 10.1
57 fanconi syndrome 10.1
58 hypoparathyroidism 10.1
59 neonatal anemia 10.1
60 exotropia 10.1
61 cardiac tamponade 10.1
62 hemosiderosis 10.1
63 hypothyroidism 10.1
64 dysostosis 10.1
65 glucosephosphate dehydrogenase deficiency 10.1
66 lipomatosis 10.1
67 pancreatitis 10.1
68 pneumonia 10.1
69 hypopituitarism 10.1
70 pulmonary embolism 10.1
71 muscular dystrophy 10.1
72 hypotonia 10.1
73 microtia 10.1
74 pierre robin syndrome 9.8 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5

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:

59 32 (showing 18, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the genital system 59 32 frequent (33%) Frequent (79-30%) HP:0000078
2 abnormality of the urinary system 59 32 frequent (33%) Frequent (79-30%) HP:0000079
3 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
4 thick lower lip vermilion 59 32 occasional (7.5%) Occasional (29-5%) HP:0000179
5 depressed nasal ridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000457
6 delayed puberty 59 32 frequent (33%) Frequent (79-30%) HP:0000823
7 pallor 59 32 hallmark (90%) Very frequent (99-80%) HP:0000980
8 abnormality of the hand 59 32 frequent (33%) Frequent (79-30%) HP:0001155
9 macrocytic anemia 59 32 frequent (33%) Frequent (79-30%) HP:0001972
10 migraine 59 32 frequent (33%) Frequent (79-30%) HP:0002076
11 acute leukemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002488
12 short nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0003196
13 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
14 arrhythmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0011675
15 fatigue 59 32 frequent (33%) Frequent (79-30%) HP:0012378
16 growth delay 59 Very frequent (99-80%)
17 anemia 59 Very frequent (99-80%)
18 neoplasm 59 Occasional (29-5%)

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

26 (showing 33, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 10.7 RPS19 RPL5 RPS17 RPS29 RPS7
2 Decreased viability GR00240-S-1 10.7 RPL15 RPS28
3 Decreased viability GR00381-A-1 10.7 RPL11 RPL15 RPL18 RPL27 RPL35A RPS19
4 Decreased viability GR00402-S-2 10.7 RPL11 RPL15 RPL18 RPL27 RPL35A RPS19
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-1 10.51 RPS19
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 10.51 RPS29
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 10.51 RPS17 RPS19 RPS29
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 10.51 RPS29
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 10.51 RPS17
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-160 10.51 RPS29
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 10.51 RPS17 RPS19 RPS29
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 10.51 RPS19
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 10.51 RPS19
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 10.51 RPS17
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-209 10.51 RPS17 RPS19
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 10.51 RPS17
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 10.51 RPS17
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 10.51 RPS17
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 10.51 RPS17
20 Decreased NF-kappaB reporter expression GR00312-A 10.4 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35
21 FOXO1 nuclear localization GR00247-A-1 10.36 RPS7 RPL11 RPL15 RPS24
22 FOXO1 nuclear localization GR00247-A-2 10.36 RPS7 RPL11 RPL15 RPS24
23 Increased G1 DNA content GR00098-A-1 10.24 GATA1 RPL11 RPL15 RPL18 RPL26 RPL27
24 Decreased viability of wild-type and TP53 knockout cells, decreased TP53 protein expression ratio (wild-type / TP53 knockout cells) GR00196-A-1 10.22 RPL5 RPS10 RPS17 RPS19 RPS26 RPS7
25 Increased viability GR00386-A-1 10.17 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35A
26 G0/1 arrest GR00098-A-2 10.09 RPL11 RPL18 RPL27 RPL35A RPS19 RPS24
27 Decreased Hepatitis C virus replication GR00180-A-1 10.01 RPS19 RPS24 RPS26 RPS28 RPS29 RPS7
28 Decreased cell number GR00303-A 9.95 RPS29 RPL11 RPL35 RPL5 RPS19
29 Negative genetic interaction between KRASG13D/+ and KRAS+/- GR00255-A-5 9.91 RPL11 RPL15 RPL27 RPL35 RPL35A RPS17
30 HIV Rev nuclear localization GR00247-A-3 9.71 RPL11 RPL15 RPS24 RPS7
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 RPL35A RPL5 RPL11 RPL18 RPL26 RPL27
33 Nucleoplasmic pre-40S maturation defects GR00209-A-1 9.5 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):

(showing 88, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 4,Phase 3,Phase 2,Not Applicable 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 3,Phase 1,Not Applicable,Early Phase 1 55-98-1 2478
9
Fludarabine Approved Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1 21679-14-1, 75607-67-9 30751
10
Vidarabine Approved, Investigational Phase 2, Phase 3,Phase 3,Early Phase 1 24356-66-9 32326 21704
11
alemtuzumab Approved, Investigational Phase 2, Phase 3,Phase 1,Early Phase 1,Not Applicable 216503-57-0
12
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 1,Not Applicable,Early Phase 1 50-18-0, 6055-19-2 2907
13
Lenograstim Approved, Investigational Phase 2, Phase 3,Not Applicable 135968-09-1
14 Orange Approved, Nutraceutical Phase 3
15 Alkylating Agents Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
16 Anti-Infective Agents Phase 2, Phase 3,Phase 3,Phase 1,Early Phase 1,Not Applicable
17 Antilymphocyte Serum Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
18 Antimetabolites Phase 2, Phase 3,Phase 3,Phase 1,Early Phase 1
19 Antimetabolites, Antineoplastic Phase 2, Phase 3,Phase 3,Phase 1,Early Phase 1
20 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
21 Antiviral Agents Phase 2, Phase 3,Phase 3,Early Phase 1
22 Immunosuppressive Agents Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
23 Adjuvants, Immunologic Phase 2, Phase 3
24 Antirheumatic Agents Phase 2, Phase 3,Phase 1,Not Applicable,Early Phase 1
25
rituximab Approved Phase 2,Not Applicable 174722-31-7 10201696
26
Miconazole Approved, Investigational, Vet_approved Phase 2,Not Applicable 22916-47-8 4189
27
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
28
Methylprednisolone Approved, Vet_approved Phase 2,Phase 1,Not Applicable 83-43-2 6741
29
Prednisolone Approved, Vet_approved Phase 2,Phase 1,Not Applicable 50-24-8 5755
30
Deferoxamine Approved, Investigational Phase 2 70-51-9 2973
31
Deferiprone Approved Phase 2 30652-11-0 2972
32
Melphalan Approved Phase 1, Phase 2,Phase 2,Not Applicable,Early Phase 1 148-82-3 4053 460612
33
Thiotepa Approved, Investigational Phase 1, Phase 2,Phase 2,Not Applicable 52-24-4 5453
34
Mycophenolate mofetil Approved, Investigational Phase 2,Phase 1,Not Applicable 128794-94-5 5281078
35
Mycophenolic acid Approved Phase 2,Phase 1,Not Applicable 24280-93-1 446541
36
Hydroxyurea Approved Phase 2,Phase 1 127-07-1 3657
37
Prednisone Approved, Vet_approved Phase 1, Phase 2 53-03-2 5865
38
Everolimus Approved Phase 2,Phase 1 159351-69-6 6442177
39
Sirolimus Approved, Investigational Phase 2,Phase 1 53123-88-9 5284616 6436030 46835353
40
Tacrolimus Approved, Investigational Phase 1, Phase 2,Phase 2 104987-11-3 445643 439492
41
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
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,Not Applicable
49 Calcineurin Inhibitors Phase 2,Phase 1,Not Applicable
50 Cyclosporins Phase 2,Phase 1,Not Applicable
51 Dermatologic Agents Phase 2,Not Applicable
52 Antiemetics Phase 2,Phase 1,Not Applicable
53 Anti-Inflammatory Agents Phase 2,Phase 1,Not Applicable
54 Antineoplastic Agents, Hormonal Phase 2,Phase 1,Not Applicable
55 Autonomic Agents Phase 2,Phase 1,Not Applicable
56 Folic Acid Antagonists Phase 2
57 Gastrointestinal Agents Phase 2,Phase 1,Not Applicable
58 glucocorticoids Phase 2,Phase 1,Not Applicable
59 Hormone Antagonists Phase 2,Phase 1,Not Applicable
60 Hormones Phase 2,Phase 1,Not Applicable
61 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2,Phase 1,Not Applicable
62 Methylprednisolone acetate Phase 2,Phase 1,Not Applicable
63 Methylprednisolone Hemisuccinate Phase 2,Phase 1,Not Applicable
64 Neuroprotective Agents Phase 2,Phase 1,Not Applicable
65 Nucleic Acid Synthesis Inhibitors Phase 2
66 Peripheral Nervous System Agents Phase 2,Phase 1,Not Applicable
67 Prednisolone acetate Phase 2,Phase 1,Not Applicable
68 Prednisolone hemisuccinate Phase 2,Phase 1,Not Applicable
69 Prednisolone phosphate Phase 2,Phase 1,Not Applicable
70 Protective Agents Phase 2,Phase 1,Not Applicable
71 Vitamin B Complex Phase 2
72 Anti-Bacterial Agents Phase 2,Phase 1,Not Applicable
73 Antibiotics, Antitubercular Phase 2,Not Applicable
74 Vidarabine Phosphate Phase 2
75 Pharmaceutical Solutions Phase 1, Phase 2
76 Antitubercular Agents Phase 2,Not Applicable
77 Immunoglobulin G Phase 2
78 Tin Fluorides Phase 2
79 leucine Nutraceutical Phase 2,Phase 1
80 Folate Nutraceutical Phase 2
81 Vitamin B9 Nutraceutical Phase 2
82 phenylalanine Nutraceutical Phase 2
83
Abatacept Approved Phase 1 332348-12-6 10237
84
Lenalidomide Approved Phase 1 191732-72-6 216326
85 Angiogenesis Inhibitors Phase 1
86 Angiogenesis Modulating Agents Phase 1
87 Muromonab-CD3 Not Applicable
88 Vaccines Early Phase 1

Interventional clinical trials:

(showing 50, show less)
# 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 Busulfan, Fludarabine, and Thiotepa Conditioning Regimen for Non Malignant Disease 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 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
24 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
25 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
26 Phase I/II Pilot Study of Mixed Chimerism to Treat Hemoglobinopathies Suspended NCT01419704 Phase 1, Phase 2
27 A Study to Determine Whether Therapy With Daclizumab Will Benefit Patients With Bone Marrow Failure Terminated NCT00001962 Phase 2 Daclizumab
28 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
29 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
30 Reduced Intensity Conditioning for Umbilical Cord Blood Transplant in Pediatric Patients With Non-Malignant Disorders Completed NCT00744692 Phase 1 Reduced Intensity Conditioning
31 BMT Abatacept for Non-Malignant Diseases Recruiting NCT01917708 Phase 1 Abatacept
32 Human Placental-Derived Stem Cell Transplantation Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
33 Pilot Lenalidomide in Adult Diamond-Blackfan Anemia Patients w/ RBC Transfusion-Dependent Anemia Terminated NCT01034592 Phase 1 Lenalidomide
34 Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant Diseases Terminated NCT02231710 Phase 1
35 Multi-Center Study of Iron Overload: Pilot Study Unknown status NCT01114776
36 Multi-Center Study of Iron Overload: Survey Study (MCSIO) Unknown status NCT01913548
37 Partially Matched Stem Cell Transplantation for Patients With Refractory Severe Aplastic Anemia or Refractory Cytopenias Completed NCT00244010 Not Applicable
38 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
39 Stem Cell Transplantation (SCT) for Genetic Diseases Completed NCT00004378 Not Applicable
40 Diamond Blackfan Anemia Registry (DBAR) Recruiting NCT00106015
41 Cancer in Inherited Bone Marrow Failure Syndromes Recruiting NCT00027274
42 CD34+ (Non-Malignant) Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation Recruiting NCT01966367 Early Phase 1
43 Fludarabine Based RIC for Bone Marrow Failure Syndromes Recruiting NCT02928991 Early Phase 1
44 Hematopoietic Stem Cell Transplant for High Risk Hemoglobinopathies Recruiting NCT02179359 Not Applicable Reduced Toxicity Ablative Regimen;Reduced Intensity Preparative Regimen;Myeloablative Preparative Regimen
45 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
46 Investigation of the Genetics of Hematologic Diseases Recruiting NCT02720679
47 Bone Marrow and Kidney Transplant for Patients With Chronic Kidney Disease and Blood Disorders Recruiting NCT01758042 Not Applicable
48 Pathophysiological Explorations of Red Blood Cells Recruiting NCT03541525
49 Donor Umbilical Cord Blood Transplant in Treating Patients With Hematologic Cancer Terminated NCT00290628 Not Applicable anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;filgrastim;melphalan;methylprednisolone;mycophenolate mofetil
50 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation Terminated NCT01319851 Not Applicable 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 29

Anatomical Context for Diamond-Blackfan Anemia

MalaCards organs/tissues related to Diamond-Blackfan Anemia:

41
Bone Marrow, Bone, Heart, Eye, Liver, Kidney, T Cells

Publications for Diamond-Blackfan Anemia

Articles related to Diamond-Blackfan Anemia:

(showing 326, show less)
# Title Authors Year
1
Correction to: Atypical erythroblastosis in a patient with Diamond-Blackfan anemia who developed del(20q) myelodysplasia. ( 29967977 )
2018
2
Identification of novel drug targets for diamond-blackfan anemia based on RPS19 gene mutation using protein-protein interaction network. ( 29745857 )
2018
3
Molecular analysis and genotype-phenotype correlation of Diamond-Blackfan anemia. ( 29044489 )
2018
4
Perspective on Diamond-Blackfan anemia: lessons from a rare congenital bone marrow failure syndrome. ( 29182601 )
2018
5
Innate immune system activation in zebrafish and cellular models of Diamond Blackfan Anemia. ( 29581525 )
2018
6
Recurring mutations in <i>RPL15</i> are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia. ( 29599205 )
2018
7
A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond-Blackfan anemia. ( 29766597 )
2018
8
Concise Review: Advanced Cell Culture Models for Diamond Blackfan Anemia and Other Erythroid Disorders. ( 29124822 )
2018
9
Atypical erythroblastosis in a patient with Diamond-Blackfan anemia who developed del(20q) myelodysplasia. ( 29476317 )
2018
10
Pediatric Diamond-Blackfan anemia in the Netherlands: An overview of clinical characteristics and underlying molecular defects. ( 29114930 )
2018
11
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
12
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
13
Pancreatic lipomatosis in Diamond-Blackfan anemia: The importance of genetic testing in bone marrow failure disorders. ( 29885000 )
2018
14
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
15
The severe phenotype of Diamond-Blackfan anemia is modulated by heat shock protein 70. ( 29296843 )
2017
16
Discrimination of Diamond-Blackfan anemia from parvovirus B19 infection by RBC glutathione. ( 28745457 )
2017
17
Confounding in ex vivo models of Diamond-Blackfan anemia. ( 28615220 )
2017
18
[Clinical features and pathogenic gene detection of Diamond-Blackfan anemia]. ( 28202115 )
2017
19
Self-reverting mutations partially correct the blood phenotype in a Diamond Blackfan anemia patient. ( 28971907 )
2017
20
Novel 3q27.2-qter deletion in a patient with Diamond-Blackfan anemia and immunodeficiency: Case report and review of literature. ( 28432740 )
2017
21
Molecular convergence in ex vivo models of Diamond Blackfan anemia. ( 28377399 )
2017
22
Lentiviral Vectors with Cellular Promoters Correct Anemia and Lethal Bone Marrow Failure in a Mouse Model for Diamond-Blackfan Anemia. ( 28434866 )
2017
23
Successful long-term management with low-dose prednisolone in an adult patient with Diamond-Blackfan anemia. ( 28883274 )
2017
24
Drug discovery for Diamond-Blackfan anemia using reprogrammed hematopoietic progenitors. ( 28179501 )
2017
25
Molecular approaches to diagnose Diamond-Blackfan anemia: The EuroDBA experience. ( 29081386 )
2017
26
Variable expressivity and incomplete penetrance in a large family with non-classical Diamond-Blackfan anemia associated with ribosomal protein L11 splicing variant. ( 28742285 )
2017
27
Towards RNA Repair of Diamond-Blackfan Anemia Hematopoietic Stem Cells. ( 27550323 )
2016
28
Reduced-intensity conditioning and stem cell transplantation in infants with Diamond Blackfan anemia. ( 27927765 )
2016
29
A novel pathogenic mutation in RPL11 identified in a patient diagnosed with diamond Blackfan anemia as a young adult. ( 27667165 )
2016
30
A new in-frame deletion in ribosomal protein S19 in a Chinese infant with Diamond-Blackfan anemia. ( 27732904 )
2016
31
Fanconi Syndrome Secondary to Deferasirox in Diamond-Blackfan Anemia: Case Series and Recommendations for Early Diagnosis. ( 27082377 )
2016
32
Transcriptome analysis reveals a ribosome constituents disorder involved in the RPL5 downregulated zebrafish model of Diamond-Blackfan anemia. ( 26961822 )
2016
33
Critical Diamond-Blackfan anemia due to ribosomal protein S19 missense mutation. ( 27601194 )
2016
34
The Stomatological Complications of Diamond-Blackfan Anemia: a Case Report. ( 26864506 )
2016
35
Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia. ( 27909223 )
2016
36
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
37
A Novel Mutation of Ribosomal Protein S19 Gene in a Chinese Child with Diamond-Blackfan Anemia. ( 27408399 )
2016
38
Delayed globin synthesis leads to excess heme and the macrocytic anemia of Diamond Blackfan anemia and del(5q) myelodysplastic syndrome. ( 27169803 )
2016
39
Clinical features, mutations and treatment of 104 patients of Diamond-Blackfan anemia in China: a single-center retrospective study. ( 27329125 )
2016
40
Erythrocyte glutathione is a novel biomarker of Diamond-Blackfan anemia. ( 27282564 )
2016
41
ALDH2 polymorphism in patients with Diamond-Blackfan anemia in Japan. ( 26608366 )
2016
42
Erythrocyte adenosine deaminase levels are elevated in Diamond Blackfan anemia but not in the 5q- syndrome. ( 27556864 )
2016
43
Diamond Blackfan Anemia: A Nonclassical Patient With Diagnosis Assisted by Genomic Analysis. ( 27258031 )
2016
44
Diagnostic challenge of Diamond-Blackfan anemia in mothers and children by whole-exome sequencing. ( 27882484 )
2016
45
Elucidation of the EP defect in Diamond-Blackfan anemia by characterization and prospective isolation of human EPs. ( 25755292 )
2015
46
Dysregulation of the Transforming Growth Factor I^ Pathway in Induced Pluripotent Stem Cells Generated from Patients with Diamond Blackfan Anemia. ( 26258650 )
2015
47
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
48
Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation. ( 25946618 )
2015
49
Alteration of heme metabolism in a cellular model of Diamond-Blackfan anemia. ( 26058344 )
2015
50
Diamond-Blackfan Anemia: Death by Heme Toxicity? ( 26235290 )
2015
51
Partial Loss of Rpl11 in Adult Mice Recapitulates Diamond-Blackfan Anemia and Promotes Lymphomagenesis. ( 26489471 )
2015
52
Disruption of the 5S RNP-Mdm2 interaction significantly improves the erythroid defect in a mouse model for Diamond-Blackfan anemia. ( 25987256 )
2015
53
Growth hormone improves short stature in children with Diamond-Blackfan anemia. ( 25492299 )
2015
54
RAP-011 improves erythropoiesis in zebrafish model of Diamond-Blackfan anemia through antagonizing lefty1. ( 26109203 )
2015
55
Endocrine Dysfunction in Diamond-Blackfan Anemia (DBA): A Report from the DBA Registry (DBAR). ( 26496000 )
2015
56
Adult-onset Diamond-Blackfan anemia with a novel mutation in the exon 5 of RPL11: too late and too rare. ( 26185635 )
2015
57
Correction: Mutation of the Diamond-Blackfan Anemia Gene Rps7 in Mouse Results in Morphological and Neuroanatomical Phenotypes. ( 26584186 )
2015
58
Successful use of reduced-intensity conditioning and matched-unrelated hematopoietic stem cell transplant in a child with Diamond-Blackfan anemia and cirrhosis. ( 26103586 )
2015
59
In-Depth, Label-Free Analysis of the Erythrocyte Cytoplasmic Proteome in Diamond Blackfan Anemia Identifies a Unique Inflammatory Signature. ( 26474164 )
2015
60
Gene therapy cures the anemia and lethal bone marrow failure in mouse model for RPS19-deficient Diamond-Blackfan anemia. ( 25216681 )
2014
61
Transcriptome analysis of Rpl11-deficient zebrafish model of Diamond-Blackfan Anemia. ( 26484089 )
2014
62
Nucleolar stress in Diamond Blackfan anemia pathophysiology. ( 24412987 )
2014
63
Altered translation of GATA1 in Diamond-Blackfan anemia. ( 24952648 )
2014
64
Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype. ( 24453067 )
2014
65
Pearson marrow pancreas syndrome in patients suspected to have Diamond-Blackfan anemia. ( 24735966 )
2014
66
Hepcidin levels in Diamond-Blackfan anemia reflect erythropoietic activity and transfusion dependency. ( 24727814 )
2014
67
Pearson syndrome in a Diamond-Blackfan anemia cohort. ( 25035146 )
2014
68
Dysferlin and other non-red cell proteins accumulate in the red cell membrane of Diamond-Blackfan Anemia patients. ( 24454878 )
2014
69
Dissecting the transcriptional phenotype of ribosomal protein deficiency: implications for Diamond-Blackfan Anemia. ( 24835311 )
2014
70
Diamond-Blackfan anemia and nutritional deficiency-induced anemia in children. ( 24662257 )
2014
71
Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families. ( 24829207 )
2014
72
Diamond Blackfan anemia: a Cheshire cat of hematology. ( 24634369 )
2014
73
A Case of Diamond Blackfan Anemia (DBA) with Mutation in Ribosomal Protein S19. ( 24596764 )
2014
74
Ribosomal protein mutations in Korean patients with Diamond-Blackfan anemia. ( 24675553 )
2014
75
Diamond Blackfan anemia: a model for the translational approach to understanding human disease. ( 24665981 )
2014
76
Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28. ( 24942156 )
2014
77
Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis. ( 25042156 )
2014
78
Reduced translation of GATA1 in Diamond-Blackfan anemia. ( 24999938 )
2014
79
The role of the DNA damage response in zebrafish and cellular models of Diamond Blackfan anemia. ( 24812435 )
2014
80
Systematic transcriptome analysis of the zebrafish model of diamond-blackfan anemia induced by RPS24 deficiency. ( 25189322 )
2014
81
p53-Independent cell cycle and erythroid differentiation defects in murine embryonic stem cells haploinsufficient for Diamond Blackfan anemia-proteins: RPS19 versus RPL5. ( 24558476 )
2014
82
Clinical phenotype and genetic analysis of RPS19, RPL5, and RPL11 genes in Greek patients with Diamond Blackfan Anemia. ( 25132370 )
2014
83
Defects of protein production in erythroid cells revealed in a zebrafish Diamond-Blackfan anemia model for mutation in RPS19. ( 25058426 )
2014
84
Transcription factors Fli1 and EKLF in the differentiation of megakaryocytic and erythroid progenitor in 5q- syndrome and in Diamond-Blackfan anemia. ( 22965552 )
2013
85
Diamond blackfan anemia: a tertiary care center experience. ( 23795277 )
2013
86
Correction: Transcriptome Analysis of the Zebrafish Model of Diamond-Blackfan Anemia from RPS19 Deficiency via p53-Dependent and -Independent Pathways. ( 23990864 )
2013
87
Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. ( 23812780 )
2013
88
Assessment of hematopoietic failure due to Rpl11 deficiency in a zebrafish model of Diamond-Blackfan anemia by deep sequencing. ( 24341334 )
2013
89
Using induced human pluripotent stem cells to study Diamond-Blackfan anemia: an outlook on the clinical possibilities. ( 24219546 )
2013
90
Mutation of the diamond-blackfan anemia gene Rps7 in mouse results in morphological and neuroanatomical phenotypes. ( 23382688 )
2013
91
Transcriptome analysis of the zebrafish model of Diamond-Blackfan anemia from RPS19 deficiency via p53-dependent and -independent pathways. ( 23990987 )
2013
92
Multihormonal hypopituitarism, hypothyroidism and hypoparathyroidism in a 17-years-old girl with Diamond-Blackfan anemia and secondary hemochromatosis. ( 25577899 )
2013
93
Ribosomal and hematopoietic defects in induced pluripotent stem cells derived from Diamond Blackfan anemia patients. ( 23744582 )
2013
94
Correction: Transcriptome Analysis of the Zebrafish Model of Diamond-Blackfan Anemia from RPS19 Deficiency via p53-Dependent and -Independent Pathways. ( 24244255 )
2013
95
First de novo mutation in RPS19 gene as the cause of hydrops fetalis in Diamond-Blackfan anemia. ( 23349008 )
2013
96
Clinical utility gene card for: Diamond-Blackfan anemia--update 2013. ( 23463023 )
2013
97
Clinical and hematologic manifestations in patients with Diamond Blackfan anemia in Korea. ( 22783360 )
2012
98
Progress towards mechanism-based treatment for Diamond-Blackfan anemia. ( 22619618 )
2012
99
Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia. ( 22431104 )
2012
100
Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry. ( 22362038 )
2012
101
Ribosomal deficiencies in Diamond-Blackfan anemia impair translation of transcripts essential for differentiation of murine and human erythroblasts. ( 22058113 )
2012
102
Diamond-blackfan anemia and isolated cleft palate. ( 22242723 )
2012
103
Dietary L-leucine improves the anemia in a mouse model for Diamond-Blackfan anemia. ( 22791294 )
2012
104
Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. ( 22706301 )
2012
105
Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia. ( 22262766 )
2012
106
Haploinsufficiency of ribosomal proteins and p53 activation in anemia: Diamond-Blackfan anemia and the 5q- syndrome. ( 21930148 )
2012
107
The Czech National Diamond-Blackfan Anemia Registry: clinical data and ribosomal protein mutations update. ( 22381658 )
2012
108
High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay. ( 22689679 )
2012
109
L-Leucine alleviates Diamond-Blackfan anemia. ( 22977078 )
2012
110
Hemin augments growth and hemoglobinization of erythroid precursors from patients with diamond-blackfan anemia. ( 22655180 )
2012
111
L-Leucine improves the anemia and developmental defects associated with Diamond-Blackfan anemia and del(5q) MDS by activating the mTOR pathway. ( 22734070 )
2012
112
A novel mutation of ribosomal protein S10 gene in a Japanese patient with diamond-Blackfan anemia. ( 22510774 )
2012
113
The spectrum of non-classical Diamond-Blackfan anemia: a case of late beginning transfusion dependency associated to a new RPL5 mutation. ( 22803003 )
2012
114
Pulmonary embolism after snake bite in a child with Diamond-Blackfan anemia. ( 20881870 )
2011
115
Clinical utility gene card for: Diamond Blackfan anemia. ( 21248735 )
2011
116
Successful bone marrow transplantation in a patient with Diamond-Blackfan anemia with co-existing Duchenne muscular dystrophy: a case report. ( 21639928 )
2011
117
Animal models of Diamond Blackfan anemia. ( 21435507 )
2011
118
Diamond Blackfan anemia: ribosomal proteins going rogue. ( 21435505 )
2011
119
Diamond Blackfan anemia treatment: past, present, and future. ( 21435508 )
2011
120
Oral and dental manifestations of diamond-blackfan anemia: case reports. ( 21769279 )
2011
121
Non-Diamond Blackfan anemia disorders of ribosome function: Shwachman Diamond syndrome and 5q- syndrome. ( 21435510 )
2011
122
Increased frequency of the glucocorticoid receptor A3669G (rs6198) polymorphism in patients with Diamond-Blackfan anemia. ( 21757629 )
2011
123
Modeling Diamond Blackfan anemia in the zebrafish. ( 21435504 )
2011
124
Can mutations in the ribosomal protein S26 (RPS26) gene lead to Klippel-Feil syndrome in Diamond-Blackfan anemia patients? An update from the Czech Diamond-Blackfan Anemia registry. ( 21414820 )
2011
125
Diamond Blackfan anemia. ( 22160079 )
2011
126
Patient advocacy in Diamond Blackfan anemia: facilitating translational research and progress towards the cure of a rare disease. ( 21435503 )
2011
127
Diamond Blackfan anemia and ribosome biogenesis: introduction. ( 21435502 )
2011
128
Mice with ribosomal protein S19 deficiency develop bone marrow failure and symptoms like patients with Diamond-Blackfan anemia. ( 21989989 )
2011
129
Ribosomal protein gene deletions in Diamond-Blackfan anemia. ( 22045982 )
2011
130
Untangling the phenotypic heterogeneity of Diamond Blackfan anemia. ( 21435509 )
2011
131
5'UTR variants of ribosomal protein S19 transcript determine translational efficiency: implications for Diamond-Blackfan anemia and tissue variability. ( 21412415 )
2011
132
Molecular pathogenesis in Diamond-Blackfan anemia. ( 20882441 )
2010
133
How I treat Diamond-Blackfan anemia. ( 20651069 )
2010
134
Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia. ( 20378560 )
2010
135
A transgenic mouse model demonstrates a dominant negative effect of a point mutation in the RPS19 gene associated with Diamond-Blackfan anemia. ( 20606162 )
2010
136
Normalization of red cell enolase level following allogeneic bone marrow transplantation in a child with Diamond-Blackfan anemia. ( 20358009 )
2010
137
Diamond Blackfan Anemia at the Crossroad between Ribosome Biogenesis and Heme Metabolism. ( 20454576 )
2010
138
Diamond Blackfan anemia 2008-2009: broadening the scope of ribosome biogenesis disorders. ( 19915471 )
2010
139
Disorders of sex development and Diamond-Blackfan anemia: is there an association? ( 20358230 )
2010
140
Ribosomal protein S19 binds to its own mRNA with reduced affinity in Diamond-Blackfan anemia. ( 20395159 )
2010
141
Successful allogeneic bone marrow transplantation for diamond-blackfan anemia complicated by severe cardiac dysfunction due to transfusion-induced hemochromatosis. ( 20190482 )
2010
142
Johanson-Blizzard syndrome with Diamond-Blackfan anemia. ( 20810061 )
2010
143
Distinct ribosome maturation defects in yeast models of Diamond-Blackfan anemia and Shwachman-Diamond syndrome. ( 19713223 )
2010
144
Diamond-Blackfan anemia, ribosome and erythropoiesis. ( 20655265 )
2010
145
A novel initiation codon mutation in the ribosomal protein S17 gene (RPS17) in a patient with Diamond-Blackfan anemia. ( 19953637 )
2010
146
Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations. ( 19773262 )
2010
147
Genetic variants in the noncoding region of RPS19 gene in Diamond-Blackfan anemia: potential implications for phenotypic heterogeneity. ( 20054847 )
2010
148
The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update. ( 20960466 )
2010
149
Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia. ( 20116044 )
2010
150
Targeted resequencing and analysis of the Diamond-Blackfan anemia disease locus RPS19. ( 19587786 )
2009
151
Diamond-Blackfan anemia: diagnosis, treatment, and molecular pathogenesis. ( 19327583 )
2009
152
Ocular hypertelorism and exotropia as presenting signs in Diamond-Blackfan anemia. ( 19184317 )
2009
153
Images. Bilateral total hip replacement in a teenager with Diamond Blackfan anemia. ( 19942193 )
2009
154
Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond- Blackfan anemia. ( 19191325 )
2009
155
Curvilinear mandibular distraction in a patient with mandibulofacial dysostosis associated with Diamond-Blackfan anemia. ( 19816270 )
2009
156
Transfusion independence in Diamond-Blackfan anemia after deferasirox therapy. ( 19415275 )
2009
157
Ribosomal protein S19 and S24 insufficiency cause distinct cell cycle defects in Diamond-Blackfan anemia. ( 19689926 )
2009
158
RPS19 mutations in patients with Diamond-Blackfan anemia. ( 18412286 )
2008
159
Anesthetic management in a child with Diamond-Blackfan anemia. ( 18312511 )
2008
160
Enhanced alternative splicing of the FLVCR1 gene in Diamond Blackfan anemia disrupts FLVCR1 expression and function that are critical for erythropoiesis. ( 18815190 )
2008
161
Ribosomal protein S19 deficiency leads to reduced proliferation and increased apoptosis but does not affect terminal erythroid differentiation in a cell line model of Diamond-Blackfan anemia. ( 17962699 )
2008
162
Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder. ( 18230666 )
2008
163
Diamond-Blackfan anemia: a ribosomal puzzle. ( 18978295 )
2008
164
Gene therapy of Diamond Blackfan anemia CD34(+) cells leads to improved erythroid development and engraftment following transplantation. ( 18715690 )
2008
165
Diamond-Blackfan anemia: a new facet. ( 18725571 )
2008
166
Multiplex ligation-dependent probe amplification enhances molecular diagnosis of Diamond-Blackfan anemia due to RPS19 deficiency. ( 18835835 )
2008
167
Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. ( 19061985 )
2008
168
Deficiency of ribosomal protein S19 during early embryogenesis leads to reduction of erythrocytes in a zebrafish model of Diamond-Blackfan anemia. ( 18653748 )
2008
169
Study of the effects of proteasome inhibitors on ribosomal protein S19 (RPS19) mutants, identified in patients with Diamond-Blackfan anemia. ( 18768533 )
2008
170
A new database for ribosomal protein genes which are mutated in Diamond-Blackfan Anemia. ( 18781615 )
2008
171
Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia. ( 18535205 )
2008
172
Diamond-Blackfan anemia: erythropoiesis lost in translation. ( 17164339 )
2007
173
Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome. ( 17517689 )
2007
174
Successful treatment of Diamond Blackfan anemia with metoclopramide. ( 17921858 )
2007
175
Fatal agranulocytosis after deferiprone therapy in a child with Diamond-Blackfan anemia. ( 17344464 )
2007
176
Cells depleted for RPS19, a protein associated with Diamond Blackfan Anemia, show defects in 18S ribosomal RNA synthesis and small ribosomal subunit production. ( 17376718 )
2007
177
The functions of RPS19 and their relationship to Diamond-Blackfan anemia: a review. ( 17178250 )
2007
178
Reversal of mirror syndrome after prenatal treatment of Diamond-Blackfan anemia. ( 17828794 )
2007
179
Successful treatment of a Diamond-Blackfan anemia patient with amino acid leucine. ( 17562599 )
2007
180
Hematopoietic stem cell transplantation for Diamond-Blackfan anemia: a report from the Aplastic Anemia Committee of the Japanese Society of Pediatric Hematology. ( 17663681 )
2007
181
Cleft palate, bilateral external auditory canal atresia, and other midline defects associated with Diamond-Blackfan anemia: case report. ( 17483715 )
2007
182
Ribosomal protein mutations in Diamond-Blackfan anemia: might they operate upstream from protein synthesis? ( 17586729 )
2007
183
Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia. ( 17647292 )
2007
184
Impaired ribosome biogenesis in Diamond-Blackfan anemia. ( 17053056 )
2007
185
Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits. ( 16990592 )
2007
186
Molecular basis of Diamond-Blackfan anemia: structure and function analysis of RPS19. ( 17726054 )
2007
187
RPS19 and JAK2 genes are not silenced by DNA methylation in diamond blackfan anemia. ( 17356406 )
2007
188
Reduced gene expression of clustered ribosomal proteins in Diamond-Blackfan anemia patients without RPS19 gene mutations. ( 16794503 )
2006
189
Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. ( 17186470 )
2006
190
Diamond-Blackfan anemia in remission for 2 years on valproic acid. ( 16785135 )
2006
191
Diamond Blackfan anemia: A paradigm for a ribosome-based disease. ( 16239073 )
2006
192
Diamond blackfan anemia: New paradigms for a &amp;quot;not so pure&amp;quot; inherited red cell aplasia. ( 16822459 )
2006
193
Diamond-Blackfan anemia: clinical features and treatment results in 4 cases. ( 17325961 )
2006
194
High-risk pregnancies in Diamond-Blackfan anemia: a survey of 64 pregnancies from the French and German registries. ( 16537118 )
2006
195
Hodgkin lymphoma in a child with Diamond Blackfan anemia. ( 16679921 )
2006
196
Central venous catheter thrombosis as a cause of SVC obstruction and cardiac tamponade in a patient with Diamond-Blackfan anemia and iron overload. ( 15768384 )
2006
197
Improving clinical care and elucidating the pathophysiology of Diamond Blackfan anemia: an update from the Diamond Blackfan Anemia Registry. ( 16317735 )
2006
198
Identification of a new in-frame deletion of six amino acids in ribosomal protein S19 in a patient with Diamond-Blackfan anemia. ( 16531079 )
2006
199
Defective ribosomal protein gene expression alters transcription, translation, apoptosis, and oncogenic pathways in Diamond-Blackfan anemia. ( 16741228 )
2006
200
Diamond-Blackfan anemia associated with beta-thalassemia trait. ( 16493623 )
2006
201
Erythropoiesis in the Rps19 disrupted mouse: Analysis of erythropoietin response and biochemical markers for Diamond-Blackfan anemia. ( 16458028 )
2006
202
Translational efficiency in patients with Diamond-Blackfan anemia. ( 17082006 )
2006
203
Specific Role for Yeast Homologs of the Diamond Blackfan Anemia-associated Rps19 Protein in Ribosome Synthesis. ( 16159874 )
2005
204
An RNA interference model of RPS19 deficiency in Diamond-Blackfan anemia recapitulates defective hematopoiesis and rescue by dexamethasone: identification of dexamethasone-responsive genes by microarray. ( 15755903 )
2005
205
Successful treatment of Diamond-Blackfan anemia with metoclopramide. ( 15795909 )
2005
206
Diamond-blackfan anemia and growth status: the French registry. ( 16291361 )
2005
207
Two-phase culture in Diamond Blackfan anemia: localization of erythroid defect. ( 15238419 )
2005
208
Successful transplantation of CD34+ selected peripheral blood stem cells from an unrelated donor in an adult patient with Diamond-Blackfan anemia and secondary hemochromatosis. ( 15516941 )
2005
209
Development of cellular models for ribosomal protein S19 (RPS19)-deficient diamond-blackfan anemia using inducible expression of siRNA against RPS19. ( 15771965 )
2005
210
Investigation of a putative role for FLVCR, a cytoplasmic heme exporter, in Diamond-Blackfan anemia. ( 15996880 )
2005
211
Chronic parvovirus infection and G6PD deficiency masquerading as Diamond-Blackfan anemia. ( 15849759 )
2005
212
Use of rituximab to treat refractory Diamond-Blackfan anemia. ( 15813920 )
2005
213
Deficiency of ribosomal protein S19 in CD34+ cells generated by siRNA blocks erythroid development and mimics defects seen in Diamond-Blackfan anemia. ( 15626736 )
2005
214
Interactions between RPS19, mutated in Diamond-Blackfan anemia, and the PIM-1 oncoprotein. ( 16266891 )
2005
215
Bone marrow transplantation for diamond-blackfan anemia. ( 16041310 )
2005
216
Familial Diamond-Blackfan anemia. Case reports and a review of the related literature. ( 14984172 )
2004
217
Living with Diamond Blackfan anemia: a challenge toward survival. ( 14734894 )
2004
218
Elevated thrombopoietin levels and alterations in the sequence of its receptor, c-Mpl, in patients with Diamond-Blackfan anemia. ( 15531462 )
2004
219
Growth hormone therapy for short stature in Diamond Blackfan anemia. ( 15382270 )
2004
220
Nomimmune hydrops fetalis due to Diamond-Blackfan anemia. ( 15004307 )
2004
221
Molecular diagnosis of Diamond-Blackfan anemia. ( 14573927 )
2004
222
Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature. ( 15075082 )
2004
223
Nonsense-mediated and nonstop decay of ribosomal protein S19 mRNA in Diamond-Blackfan anemia. ( 15523650 )
2004
224
Successful nonmyeloablative bone marrow transplantation in a corticosteroid-resistant infant with Diamond-Blackfan anemia. ( 15220956 )
2004
225
Postmortem diagnosis of Diamond-Blackfan anemia. ( 15591911 )
2004
226
Proliferation deficiency of multipotent hematopoietic progenitors in ribosomal protein S19 (RPS19)-deficient diamond-Blackfan anemia improves following RPS19 gene transfer. ( 12718904 )
2003
227
Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: potential insights into pathophysiology. ( 12586610 )
2003
228
Diamond blackfan anemia stem cells fail to repopulate erythropoiesis in NOD/SCID mice. ( 12850491 )
2003
229
Ten novel Diamond-Blackfan anemia mutations and three polymorphisms within the rps19 gene. ( 12750732 )
2003
230
Fetal Diamond-Blackfan anemia associated with hydrops fetalis. ( 14655096 )
2003
231
Diamond-Blackfan anemia: report of 6 cases. ( 12736411 )
2003
232
A child with Diamond-Blackfan anemia, methylenetetrahydrofolate reductase mutation, and perinatal stroke. ( 14696910 )
2003
233
Sustained cyclosporine-induced erythropoietic response in identical male twins with diamond-blackfan anemia. ( 14608205 )
2003
234
Response of Diamond-Blackfan anemia to metoclopramide: evidence for a role for prolactin in erythropoiesis. ( 12351372 )
2002
235
Study of 22 Egyptian patients with Diamond-Blackfan anemia, corticosteroids, and cyclosporin therapy results. ( 12359817 )
2002
236
Pneumocystis carinii pneumonia in patients with Diamond-Blackfan anemia receiving high-dose corticosteroids. ( 12142794 )
2002
237
The effect of thrombopoietin on erythroid progenitors in Diamond-Blackfan anemia. ( 12041668 )
2002
238
Gene transfer improves erythroid development in ribosomal protein S19-deficient Diamond-Blackfan anemia. ( 12351378 )
2002
239
The Diamond Blackfan Anemia Registry: tool for investigating the epidemiology and biology of Diamond-Blackfan anemia. ( 11563775 )
2001
240
Diamond-Blackfan anemia. ( 11176237 )
2001
241
Osteogenic sarcoma associated with Diamond-Blackfan anemia: a report from the Diamond-Blackfan Anemia Registry. ( 11196268 )
2001
242
Ribosomal proteins S3a, S13, S16, and S24 are not mutated in patients with Diamond-Blackfan anemia. ( 11202430 )
2001
243
Successful immunization following cord blood transplantation in a child with Diamond-Blackfan anemia. ( 11293287 )
2001
244
Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease. ( 11264183 )
2001
245
Bilateral microtia and cleft palate in cousins with Diamond-Blackfan anemia. ( 11424144 )
2001
246
Oral megadose methylprednisolone therapy for refractory Diamond-Blackfan anemia. International Diamond-Blackfan Anemia Study Group. ( 11563769 )
2001
247
Hematopoietic stem cell transplantation for Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry. ( 11313667 )
2001
248
Epstein-Barr virus-associated lymphoproliferative disease after a cord blood transplant for Diamond-Blackfan anemia. ( 10673683 )
2000
249
Diamond-blackfan anemia and cyclosporine therapy revisited. ( 10779036 )
2000
250
Diamond-Blackfan anemia and midline defects. ( 11037867 )
2000
251
Diamond-Blackfan anemia. ( 10698294 )
2000
252
Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population. ( 11112378 )
2000
253
Ribosomal protein S19 gene mutations in patients with diamond-blackfan anemia and identification of ribosomal protein S19 pseudogenes. ( 10753603 )
2000
254
Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia. ( 10598818 )
1999
255
Mutations in ribosomal protein S19 gene and Diamond Blackfan anemia: wide variations in phenotypic expression. ( 10590074 )
1999
256
A microdeletion syndrome due to a 3-Mb deletion on 19q13.2--Diamond-Blackfan anemia associated with macrocephaly, hypotonia, and psychomotor retardation. ( 10450869 )
1999
257
Identification of new prognosis factors from the clinical and epidemiologic analysis of a registry of 229 Diamond-Blackfan anemia patients. DBA group of SociActAc d'HAcmatologie et d'Immunologie PAcdiatrique (SHIP), Gesellshaft fA1r PAodiatrische Onkologie und HAomatologie (GPOH), and the European Society for Pediatric Hematology and Immunology (ESPHI). ( 10541318 )
1999
258
Non-Hodgkin's lymphoma in a patient with Diamond-Blackfan anemia. ( 10397110 )
1999
259
Long-term bone marrow cultures in Diamond-Blackfan anemia reveal a defect of both granulomacrophage and erythroid progenitors. ( 9923439 )
1999
260
Transient megakaryoblastic feature in a patient with Diamond-Blackfan anemia. ( 9840916 )
1998
261
Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity. ( 9792865 )
1998
262
Human calcium-activated potassium channel gene KCNN4 maps to chromosome 19q13.2 in the region deleted in diamond-blackfan anemia. ( 9693050 )
1998
263
Bone marrow transplant in Diamond-Blackfan anemia. ( 9613795 )
1998
264
Elevation of the serum Fas ligand in patients with hemophagocytic syndrome and Diamond-Blackfan anemia. ( 9531589 )
1998
265
High adenosine deaminase level among healthy probands of Diamond Blackfan anemia (DBA) cosegregates with the DBA gene region on chromosome 19q13. The DBA Working Group of SociActAc d'Immunologie PAcdiatrique (SHIP). ( 9834249 )
1998
266
Current concepts and issues in Diamond-Blackfan anemia. ( 9570703 )
1998
267
X-ray-sensitivity of lymphocytes of aplastic- and Diamond-Blackfan-anemia patients as detected by conventional cytogenetic and chromosome painting techniques. ( 9042404 )
1997
268
Diamond-Blackfan anemia. ( 9443046 )
1997
269
Expression of SCL is normal in transfusion-dependent Diamond-Blackfan anemia but other bHLH proteins are deficient. ( 9292545 )
1997
270
Autosomal dominantly inherited Diamond-Blackfan anemia resulting in nonimmune hydrops. ( 9166327 )
1997
271
Successful hematopoietic reconstitution by transplantation of umbilical cord blood cells in a transfusion-dependent child with Diamond-Blackfan anemia. ( 9012937 )
1997
272
Cord blood stem cell transplantation for Diamond-Blackfan anemia. ( 9052920 )
1997
273
Diamond-Blackfan anemia: expansion of erythroid progenitors in vitro by IL-9, but exclusion of a significant pathogenetic role for the IL-9 gene and the hematopoietic gene cluster on chromosome 5q. ( 9357971 )
1997
274
Transient erythrophagocytosis in Diamond-Blackfan anemia. ( 9363662 )
1997
275
Diamond-Blackfan anemia. Natural history and sequelae of treatment. ( 8606629 )
1996
276
Diamond-Blackfan anemia and malignancy: a case report and a review of the literature. ( 8646702 )
1996
277
Mutations in the erythropoietin receptor gene are not a common cause of Diamond-Blackfan anemia. ( 8630424 )
1996
278
Diamond-Blackfan anemia: a congenital defect in erythropoiesis. ( 9009445 )
1996
279
Osteogenic sarcoma in a child with transfusion-dependent Diamond-Blackfan anemia. ( 8846147 )
1996
280
High-dose intravenous methylprednisolone therapy for patients with Diamond-Blackfan anemia refractory to conventional doses of prednisone. ( 7562296 )
1995
281
Diamond-Blackfan anemia and malignancy. A case report and a review of the literature. ( 8625135 )
1995
282
Diamond-Blackfan anemia as an unusual cause of nonimmune hydrops fetalis: a case report. ( 8926615 )
1995
283
Bone marrow transplantation for Diamond-Blackfan anemia. ( 7742755 )
1995
284
Erythroid failure in Diamond-Blackfan anemia is characterized by apoptosis. ( 8298126 )
1994
285
Red cell aplasia resembling Diamond-Blackfan anemia in seven children in a family. ( 8037347 )
1994
286
Failure of recombinant human interleukin-3 therapy to induce erythropoiesis in patients with refractory Diamond-Blackfan anemia. ( 8167334 )
1994
287
Oral megadose methylprednisolone for the treatment of Diamond-Blackfan anemia. ( 7880310 )
1994
288
Sustained response after recombinant interleukin-3 in diamond blackfan anemia. ( 8286756 )
1994
289
Oral megadose methylprednisolone for Diamond-Blackfan anemia. ( 7949199 )
1994
290
Diamond-blackfan anemia in pregnancy. ( 8159364 )
1994
291
Malignant tumors in two patients with Diamond-Blackfan anemia treated with corticosteroids and androgens. ( 7947015 )
1994
292
Diamond-Blackfan anemia associated with Treacher-Collins syndrome. ( 8217543 )
1993
293
In vitro enhancement of erythropoiesis by steel factor in Diamond-Blackfan anemia and treatment of other congenital cytopenias with recombinant interleukin 3/granulocyte-macrophage colony stimulating factor. ( 7691316 )
1993
294
Lack of mutations of the MGF and KIT genes in Diamond-Blackfan anemia. ( 7684626 )
1993
295
Successful treatment of Diamond-Blackfan anemia with interleukin 3. ( 7691318 )
1993
296
Diamond-Blackfan Anemia ( 20301769 )
1993
297
Megadose methylprednisolone for Diamond-Blackfan anemia. ( 8438909 )
1993
298
Erythropoiesis in Diamond-Blackfan anemia and the role of interleukin 3 and steel factor. ( 7691333 )
1993
299
Lack of effect of corticosteroids in W/Wv and S1/S1d mice: these strains are not a model for steroid-responsive Diamond-Blackfan anemia. ( 7686505 )
1993
300
M-07e cell bioassay detects stromal cell production of granulocyte-macrophage colony stimulating factor and stem cell factor in normal and in Diamond-Blackfan anemia bone marrow. ( 7691319 )
1993
301
Cyclosporin A for Diamond-Blackfan anemia: a new case. ( 8493997 )
1993
302
Treatment of Diamond-Blackfan anemia with recombinant human interleukin-3. ( 8338944 )
1993
303
Intravenous gamma-globulin therapy in Diamond-Blackfan anemia. ( 1621524 )
1992
304
Cyclosporin A treatment for Diamond-Blackfan anemia. ( 1546717 )
1992
305
Absence of abnormalities of c-kit or its ligand in two patients with Diamond-Blackfan anemia. ( 1370205 )
1992
306
The SCF and c-kit genes in Diamond-Blackfan anemia. ( 1373335 )
1992
307
Pentasomy 21 in leukemia complicating Diamond-Blackfan anemia. ( 1423230 )
1992
308
Diamond-blackfan anemia: in vitro response of erythroid progenitors to the ligand for c-kit. ( 1718487 )
1991
309
In vitro growth and regulation of bone marrow enriched CD34+ hematopoietic progenitors in Diamond-Blackfan anemia. ( 1718488 )
1991
310
Diamond-Blackfan anemia: heterogenous response of hematopoietic progenitor cells in vitro to the protein product of the steel locus. ( 1718489 )
1991
311
Congenital hypoplastic (Diamond-Blackfan) anemia in seven members of one kindred. ( 2309764 )
1990
312
Diamond-blackfan anemia: etiology, pathophysiology, and treatment. ( 2694854 )
1989
313
Diamond-Blackfan anemia: promotion of marrow erythropoiesis in vitro by recombinant interleukin-3. ( 2649168 )
1989
314
Congenital hypoplastic (Diamond-Blackfan) anemia: a possible role of natural killer cells in erythropoietic suppression. ( 3201885 )
1988
315
High-dose intravenous methylprednisolone for refractory or resistant Diamond-Blackfan anemia. ( 3666107 )
1987
316
Comparative activity of erythrocyte adenosine deaminase and orotidine decarboxylase in Diamond-Blackfan anemia. ( 3752068 )
1986
317
Defective erythroid progenitor differentiation system in congenital hypoplastic (Diamond-Blackfan) anemia. ( 3955239 )
1986
318
Diamond-Blackfan anemia. Neonatal presentation as Rh incompatibility, hemolysis, and active erythropoiesis. ( 4083394 )
1985
319
Effect of cellular and humoral factors on hematopoietic stem cells in a patient with Diamond-Blackfan anemia. ( 2418617 )
1985
320
Gas exchange during exercise in children with thalassemia major and Diamond-Blackfan anemia. ( 4069833 )
1985
321
Oral manifestations in congenital hypoplastic anemia (Diamond-Blackfan anemia): clinical report. ( 6596564 )
1984
322
Inheritance of Diamond-Blackfan anemia. ( 7177015 )
1982
323
Cartilage-hair hypoplasia, defective T-cell function, and Diamond-Blackfan anemia in an Amish child. ( 6972168 )
1981
324
Platelet number and function in Diamond-Blackfan anemia. ( 7267232 )
1981
325
Normal erythropoietic helper T cells in congenital hypoplastic (Diamond-Blackfan) anemia. ( 306065 )
1978
326
Erythroid precursors in congenital hypoplastic (Diamond-Blackfan) anemia. ( 621285 )
1978

Variations for Diamond-Blackfan Anemia

ClinVar genetic disease variations for Diamond-Blackfan Anemia:

6
(showing 336, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 RPS24 NM_033022.3(RPS24): c.46C> T (p.Arg16Ter) single nucleotide variant Pathogenic rs104894189 GRCh37 Chromosome 10, 79795152: 79795152
2 RPS24 NM_033022.3(RPS24): c.46C> T (p.Arg16Ter) single nucleotide variant Pathogenic rs104894189 GRCh38 Chromosome 10, 78035394: 78035394
3 RPS19 NM_001022.3(RPS19): c.411+12G> A single nucleotide variant Likely benign rs61762296 GRCh38 Chromosome 19, 41869765: 41869765
4 RPS19 NM_001022.3(RPS19): c.411+12G> A single nucleotide variant Likely benign rs61762296 GRCh37 Chromosome 19, 42373835: 42373835
5 RPL11 NM_000975.4(RPL11): c.258T> G (p.Gly86=) single nucleotide variant Likely benign rs760885169 GRCh37 Chromosome 1, 24020397: 24020397
6 RPL11 NM_000975.4(RPL11): c.258T> G (p.Gly86=) single nucleotide variant Likely benign rs760885169 GRCh38 Chromosome 1, 23693907: 23693907
7 RPL5 NM_000969.3(RPL5): c.165G> A (p.Val55=) single nucleotide variant Benign/Likely benign rs58263806 GRCh38 Chromosome 1, 92833636: 92833636
8 RPL5 NM_000969.3(RPL5): c.165G> A (p.Val55=) single nucleotide variant Benign/Likely benign rs58263806 GRCh37 Chromosome 1, 93299193: 93299193
9 RPL5 NM_000969.4(RPL5): c.258T> C (p.Tyr86=) single nucleotide variant Benign/Likely benign rs113792800 GRCh38 Chromosome 1, 92834847: 92834847
10 RPL5 NM_000969.4(RPL5): c.258T> C (p.Tyr86=) single nucleotide variant Benign/Likely benign rs113792800 GRCh37 Chromosome 1, 93300404: 93300404
11 RPL5 NM_000969.4(RPL5): c.325-4A> G single nucleotide variant Benign rs183825489 GRCh37 Chromosome 1, 93301743: 93301743
12 RPL5 NM_000969.4(RPL5): c.325-4A> G single nucleotide variant Benign rs183825489 GRCh38 Chromosome 1, 92836186: 92836186
13 RPL5 NM_000969.4(RPL5): c.326T> C (p.Leu109Pro) single nucleotide variant Uncertain significance rs878854146 GRCh38 Chromosome 1, 92836191: 92836191
14 RPL5 NM_000969.4(RPL5): c.326T> C (p.Leu109Pro) single nucleotide variant Uncertain significance rs878854146 GRCh37 Chromosome 1, 93301748: 93301748
15 RPL5 NM_000969.3(RPL5): c.629A> G (p.Tyr210Cys) single nucleotide variant Benign/Likely benign rs11540832 GRCh37 Chromosome 1, 93303114: 93303114
16 RPL5 NM_000969.3(RPL5): c.629A> G (p.Tyr210Cys) single nucleotide variant Benign/Likely benign rs11540832 GRCh38 Chromosome 1, 92837557: 92837557
17 RPS10 NM_001014.4(RPS10): c.231G> A (p.Gln77=) single nucleotide variant Benign/Likely benign rs147863199 GRCh37 Chromosome 6, 34392537: 34392537
18 RPS10 NM_001014.4(RPS10): c.231G> A (p.Gln77=) single nucleotide variant Benign/Likely benign rs147863199 GRCh38 Chromosome 6, 34424760: 34424760
19 RPS10 NM_001014.4(RPS10): c.135C> T (p.Val45=) single nucleotide variant Likely benign rs148901210 GRCh37 Chromosome 6, 34392864: 34392864
20 RPS10 NM_001014.4(RPS10): c.135C> T (p.Val45=) single nucleotide variant Likely benign rs148901210 GRCh38 Chromosome 6, 34425087: 34425087
21 RPS24 NM_033022.3(RPS24): c.371A> G (p.Asn124Ser) single nucleotide variant Likely benign rs147128920 GRCh37 Chromosome 10, 79797043: 79797043
22 RPS24 NM_033022.3(RPS24): c.371A> G (p.Asn124Ser) single nucleotide variant Likely benign rs147128920 GRCh38 Chromosome 10, 78037285: 78037285
23 RPL26 NM_000987.4(RPL26): c.259C> T (p.Arg87Trp) single nucleotide variant Uncertain significance rs878854147 GRCh38 Chromosome 17, 8379846: 8379846
24 RPL26 NM_000987.4(RPL26): c.259C> T (p.Arg87Trp) single nucleotide variant Uncertain significance rs878854147 GRCh37 Chromosome 17, 8283164: 8283164
25 RPS19 NM_001022.3(RPS19): c.72-92A> G single nucleotide variant Likely benign rs566047445 GRCh37 Chromosome 19, 42365089: 42365089
26 RPS19 NM_001022.3(RPS19): c.72-92A> G single nucleotide variant Likely benign rs566047445 GRCh38 Chromosome 19, 41861020: 41861020
27 RPS19 NM_001022.3(RPS19): c.356+18G> C single nucleotide variant Benign rs61762294 GRCh37 Chromosome 19, 42373302: 42373302
28 RPS19 NM_001022.3(RPS19): c.356+18G> C single nucleotide variant Benign rs61762294 GRCh38 Chromosome 19, 41869232: 41869232
29 RPS24 NM_033022.3(RPS24): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs886039545 GRCh37 Chromosome 10, 79793660: 79793660
30 RPS24 NM_033022.3(RPS24): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs886039545 GRCh38 Chromosome 10, 78033902: 78033902
31 RPL5 NM_000969.3(RPL5): c.3+3G> C single nucleotide variant Benign/Likely benign rs200628272 GRCh37 Chromosome 1, 93297677: 93297677
32 RPL5 NM_000969.3(RPL5): c.3+3G> C single nucleotide variant Benign/Likely benign rs200628272 GRCh38 Chromosome 1, 92832120: 92832120
33 RPL11 NM_000975.4(RPL11): c.339C> T (p.Ile113=) single nucleotide variant Benign/Likely benign rs8880 GRCh38 Chromosome 1, 23694734: 23694734
34 RPL11 NM_000975.4(RPL11): c.339C> T (p.Ile113=) single nucleotide variant Benign/Likely benign rs8880 GRCh37 Chromosome 1, 24021224: 24021224
35 RPL11 NM_000975.4(RPL11): c.-14T> C single nucleotide variant Uncertain significance rs886046307 GRCh38 Chromosome 1, 23691810: 23691810
36 RPL11 NM_000975.4(RPL11): c.-14T> C single nucleotide variant Uncertain significance rs886046307 GRCh37 Chromosome 1, 24018300: 24018300
37 RPL11 NM_000975.4(RPL11): c.270G> A (p.Arg90=) single nucleotide variant Uncertain significance rs886046308 GRCh38 Chromosome 1, 23694665: 23694665
38 RPL11 NM_000975.4(RPL11): c.270G> A (p.Arg90=) single nucleotide variant Uncertain significance rs886046308 GRCh37 Chromosome 1, 24021155: 24021155
39 RPL5 NM_000969.4(RPL5): c.-55C> G single nucleotide variant Likely benign rs116168890 GRCh38 Chromosome 1, 92832060: 92832060
40 RPL5 NM_000969.4(RPL5): c.-55C> G single nucleotide variant Likely benign rs116168890 GRCh37 Chromosome 1, 93297617: 93297617
41 RPL5 NM_000969.4(RPL5): c.-42A> C single nucleotide variant Likely benign rs145634330 GRCh38 Chromosome 1, 92832073: 92832073
42 RPL5 NM_000969.4(RPL5): c.-42A> C single nucleotide variant Likely benign rs145634330 GRCh37 Chromosome 1, 93297630: 93297630
43 RPL5 NM_000969.4(RPL5): c.-2G> A single nucleotide variant Uncertain significance rs886046558 GRCh38 Chromosome 1, 92832113: 92832113
44 RPL5 NM_000969.4(RPL5): c.-2G> A single nucleotide variant Uncertain significance rs886046558 GRCh37 Chromosome 1, 93297670: 93297670
45 RPL5 NM_000969.4(RPL5): c.3+13C> T single nucleotide variant Likely benign rs189107197 GRCh38 Chromosome 1, 92832130: 92832130
46 RPL5 NM_000969.4(RPL5): c.3+13C> T single nucleotide variant Likely benign rs189107197 GRCh37 Chromosome 1, 93297687: 93297687
47 RPL5 NM_000969.4(RPL5): c.781G> C (p.Val261Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs773839391 GRCh38 Chromosome 1, 92840626: 92840626
48 RPL5 NM_000969.4(RPL5): c.781G> C (p.Val261Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs773839391 GRCh37 Chromosome 1, 93306183: 93306183
49 RPL11 NM_000975.3(RPL11): c.30C> T (p.Asn10=) single nucleotide variant Benign/Likely benign rs139286202 GRCh38 Chromosome 1, 23692632: 23692632
50 RPL11 NM_000975.3(RPL11): c.30C> T (p.Asn10=) single nucleotide variant Benign/Likely benign rs139286202 GRCh37 Chromosome 1, 24019122: 24019122
51 RPL11 NM_000975.4(RPL11): c.102G> A (p.Thr34=) single nucleotide variant Uncertain significance rs199772693 GRCh38 Chromosome 1, 23692704: 23692704
52 RPL11 NM_000975.4(RPL11): c.102G> A (p.Thr34=) single nucleotide variant Uncertain significance rs199772693 GRCh37 Chromosome 1, 24019194: 24019194
53 RPL11 NM_000975.4(RPL11): c.153C> T (p.Ser51=) single nucleotide variant Likely benign rs80133698 GRCh38 Chromosome 1, 23692755: 23692755
54 RPL11 NM_000975.4(RPL11): c.153C> T (p.Ser51=) single nucleotide variant Likely benign rs80133698 GRCh37 Chromosome 1, 24019245: 24019245
55 RPL11 NM_000975.4(RPL11): c.306T> C (p.Thr102=) single nucleotide variant Uncertain significance rs886046309 GRCh38 Chromosome 1, 23694701: 23694701
56 RPL11 NM_000975.4(RPL11): c.306T> C (p.Thr102=) single nucleotide variant Uncertain significance rs886046309 GRCh37 Chromosome 1, 24021191: 24021191
57 RPL11 NM_000975.4(RPL11): c.158-7C> T single nucleotide variant Uncertain significance rs768654673 GRCh38 Chromosome 1, 23693800: 23693800
58 RPL11 NM_000975.4(RPL11): c.158-7C> T single nucleotide variant Uncertain significance rs768654673 GRCh37 Chromosome 1, 24020290: 24020290
59 RPL11 NM_000975.4(RPL11): c.*52A> G single nucleotide variant Likely benign rs60606712 GRCh38 Chromosome 1, 23696425: 23696425
60 RPL11 NM_000975.4(RPL11): c.*52A> G single nucleotide variant Likely benign rs60606712 GRCh37 Chromosome 1, 24022915: 24022915
61 RPL5 NM_000969.4(RPL5): c.-62C> G single nucleotide variant Uncertain significance rs368663464 GRCh38 Chromosome 1, 92832053: 92832053
62 RPL5 NM_000969.4(RPL5): c.-62C> G single nucleotide variant Uncertain significance rs368663464 GRCh37 Chromosome 1, 93297610: 93297610
63 RPL5 NM_000969.4(RPL5): c.-6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs199523145 GRCh38 Chromosome 1, 92832109: 92832109
64 RPL5 NM_000969.4(RPL5): c.-6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs199523145 GRCh37 Chromosome 1, 93297666: 93297666
65 RPL5 NM_000969.4(RPL5): c.325-11T> G single nucleotide variant Likely benign rs145058455 GRCh38 Chromosome 1, 92836179: 92836179
66 RPL5 NM_000969.4(RPL5): c.325-11T> G single nucleotide variant Likely benign rs145058455 GRCh37 Chromosome 1, 93301736: 93301736
67 RPL5 NM_000969.4(RPL5): c.-52C> G single nucleotide variant Likely benign rs143326916 GRCh38 Chromosome 1, 92832063: 92832063
68 RPL5 NM_000969.4(RPL5): c.-52C> G single nucleotide variant Likely benign rs143326916 GRCh37 Chromosome 1, 93297620: 93297620
69 RPL5 NM_000969.4(RPL5): c.-46C> G single nucleotide variant Uncertain significance rs376208311 GRCh38 Chromosome 1, 92832069: 92832069
70 RPL5 NM_000969.4(RPL5): c.-46C> G single nucleotide variant Uncertain significance rs376208311 GRCh37 Chromosome 1, 93297626: 93297626
71 RPL5 NM_000969.4(RPL5): c.-18C> A single nucleotide variant Uncertain significance rs201295012 GRCh38 Chromosome 1, 92832097: 92832097
72 RPL5 NM_000969.4(RPL5): c.-18C> A single nucleotide variant Uncertain significance rs201295012 GRCh37 Chromosome 1, 93297654: 93297654
73 RPL5 NM_000969.4(RPL5): c.202C> T (p.Arg68Cys) single nucleotide variant Uncertain significance rs750383596 GRCh38 Chromosome 1, 92834791: 92834791
74 RPL5 NM_000969.4(RPL5): c.202C> T (p.Arg68Cys) single nucleotide variant Uncertain significance rs750383596 GRCh37 Chromosome 1, 93300348: 93300348
75 RPL5 NM_000969.4(RPL5): c.403A> G (p.Ile135Val) single nucleotide variant Likely benign rs200075817 GRCh38 Chromosome 1, 92836268: 92836268
76 RPL5 NM_000969.4(RPL5): c.403A> G (p.Ile135Val) single nucleotide variant Likely benign rs200075817 GRCh37 Chromosome 1, 93301825: 93301825
77 RPL5 NM_000969.4(RPL5): c.846A> G (p.Gln282=) single nucleotide variant Likely benign rs376641112 GRCh38 Chromosome 1, 92841817: 92841817
78 RPL5 NM_000969.4(RPL5): c.846A> G (p.Gln282=) single nucleotide variant Likely benign rs376641112 GRCh37 Chromosome 1, 93307374: 93307374
79 RPL5 NM_000969.4(RPL5): c.-70T> A single nucleotide variant Uncertain significance rs551112484 GRCh38 Chromosome 1, 92832045: 92832045
80 RPL5 NM_000969.4(RPL5): c.-70T> A single nucleotide variant Uncertain significance rs551112484 GRCh37 Chromosome 1, 93297602: 93297602
81 RPL5 NM_000969.4(RPL5): c.-58G> T single nucleotide variant Likely benign rs200437092 GRCh38 Chromosome 1, 92832057: 92832057
82 RPL5 NM_000969.4(RPL5): c.-58G> T single nucleotide variant Likely benign rs200437092 GRCh37 Chromosome 1, 93297614: 93297614
83 RPL5 NM_000969.4(RPL5): c.-48G> A single nucleotide variant Uncertain significance rs376070413 GRCh38 Chromosome 1, 92832067: 92832067
84 RPL5 NM_000969.4(RPL5): c.-48G> A single nucleotide variant Uncertain significance rs376070413 GRCh37 Chromosome 1, 93297624: 93297624
85 RPL5 NM_000969.4(RPL5): c.-38C> T single nucleotide variant Uncertain significance rs372080902 GRCh38 Chromosome 1, 92832077: 92832077
86 RPL5 NM_000969.4(RPL5): c.-38C> T single nucleotide variant Uncertain significance rs372080902 GRCh37 Chromosome 1, 93297634: 93297634
87 RPL5