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

Characteristics:

Orphanet epidemiological data:

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

GeneReviews:

23
Penetrance Penetrance is incomplete...

Classifications:



External Ids:

Disease Ontology 12 DOID:1339
ICD10 33 D61.01
MeSH 42 D029503
NCIt 47 C61236
Orphanet 56 ORPHA124
MESH via Orphanet 43 D029503
UMLS via Orphanet 70 C1260899 C2931850
ICD10 via Orphanet 34 D61.0
UMLS 69 C1260899

Summaries for Diamond-Blackfan Anemia

NIH Rare Diseases : 50 diamond-blackfan anemia is an inheritedblood disorder that affects the ability of the bone marrow to produce red blood cells. it is usually diagnosed during the first year of life. individuals with diamond-blackfan anemia may also have physical abnormalities of the face head, upper limbs, hands (mostly involving the thumbs), genitalia, urinary tract, and heart. some affected individuals also have short stature. diamond-blackfan anemia is caused by a mutation in a number of different gene(s), some of which have been identified and some of which have not. identified genes include but are not limited to: rps19, rpl5,  rps10, rpl11, rpl35a, rps7, rps17, rps24,  rps26 and gata1 genes. different subtypes exist and are divided based on the specific gene mutated; however, they have similar features. patients with mutations in the rpl5 gene have more serious symptoms and about 45% have cleft palate and are smaller than average size. patients with mutations in the rpl11 gene have thumb anomalies more frequently than people with the other types. mutations in the gata1 gene are associated with severe anemia. about 45% of people with diamond-blackfan anemia inherit this condition from a parent. inheritance is typically autosomal dominant , but can rarely be x-linked. treatment may involve corticosteroids, blood transfusions, a bone marrow transplant or stem cell transplantation.     last updated: 2/17/2016

MalaCards based summary : Diamond-Blackfan Anemia, also known as congenital pure red cell aplasia, is related to diamond-blackfan anemia 3 and diamond-blackfan anemia 5, and has symptoms including short stature, migraine and cleft palate. An important gene associated with Diamond-Blackfan Anemia is RPL5 (Ribosomal Protein L5), and among its related pathways/superpathways are Metabolism and Gene Expression. The drugs Iron and Deferasirox have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and heart, and related phenotype is Decreased shRNA abundance (Z-score < -2).

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 : 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).

GeneReviews: NBK7047

Related Diseases for Diamond-Blackfan Anemia

Diseases in the Diamond-Blackfan Anemia family:

Diamond-Blackfan Anemia 7 Diamond-Blackfan Anemia 6
Diamond-Blackfan Anemia 17 Diamond-Blackfan Anemia 8
Diamond-Blackfan Anemia 12 Diamond-Blackfan Anemia 5
Diamond-Blackfan Anemia 9 Diamond-Blackfan Anemia 2
Diamond-Blackfan Anemia 3 Diamond-Blackfan Anemia 10
Diamond-Blackfan Anemia 13 Diamond-Blackfan Anemia 4
Diamond-Blackfan Anemia 11 Diamond-Blackfan Anemia 16
Diamond-Blackfan Anemia 1 Gata1-Related Diamond-Blackfan Anemia
Rpl11-Related Diamond-Blackfan Anemia Rpl15-Related Diamond-Blackfan Anemia
Rpl26-Related Diamond-Blackfan Anemia Rpl35a-Related Diamond-Blackfan Anemia
Rpl5-Related Diamond-Blackfan Anemia Rps10-Related Diamond-Blackfan Anemia
Rps17-Related Diamond-Blackfan Anemia Rps19-Related Diamond-Blackfan Anemia
Rps24-Related Diamond-Blackfan Anemia Rps26-Related Diamond-Blackfan Anemia
Rps7-Related Diamond-Blackfan Anemia

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

(show top 50) (show all 92)
id Related Disease Score Top Affiliating Genes
1 diamond-blackfan anemia 3 12.6
2 diamond-blackfan anemia 5 12.6
3 diamond-blackfan anemia 9 12.6
4 diamond-blackfan anemia 10 12.6
5 diamond-blackfan anemia 7 12.6
6 diamond-blackfan anemia 4 12.6
7 diamond-blackfan anemia 8 12.6
8 diamond-blackfan anemia 11 12.6
9 diamond-blackfan anemia 1 12.6
10 diamond-blackfan anemia 6 12.6
11 diamond blackfan anemia 15 with mandibulofacial dysostosis 12.5
12 diamond-blackfan anemia 12 12.5
13 diamond-blackfan anemia 14 with mandibulofacial dysostosis 12.5
14 diamond-blackfan anemia 13 12.5
15 diamond-blackfan anemia 17 12.5
16 diamond-blackfan anemia 16 12.5
17 diamond-blackfan anemia 2 12.5
18 rpl5-related diamond-blackfan anemia 12.2
19 rps10-related diamond-blackfan anemia 12.2
20 rps17-related diamond-blackfan anemia 12.2
21 rps19-related diamond-blackfan anemia 12.2
22 rps24-related diamond-blackfan anemia 12.2
23 rps26-related diamond-blackfan anemia 12.2
24 rps7-related diamond-blackfan anemia 12.2
25 trs2-related diamond-blackfan anemia with mandibulofacial dysostosis 12.2
26 rpl11-related diamond-blackfan anemia 12.2
27 rpl15-related diamond-blackfan anemia 12.2
28 rpl35a-related diamond-blackfan anemia 12.2
29 gata1-related diamond-blackfan anemia 12.1
30 rpl26-related diamond-blackfan anemia 12.1
31 bd syndrome 11.9
32 behcet syndrome 11.4
33 binswanger's disease 11.1
34 dementia - subcortical 11.1
35 subcortical arteriosclerotic encephalopathy 11.1
36 boomerang dysplasia 11.1
37 transient erythroblastopenia of childhood 11.0 RPL5 RPS19
38 deafness, autosomal recessive 68 10.9 RPS26 RPS28 TSR2
39 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech 10.9
40 necrotizing ulcerative gingivitis 10.9 RPS27 RPS29
41 hypocalciuric hypercalcemia, type iii 10.9 EPO KITLG RPS19
42 pontocerebellar hypoplasia type 2b 10.8 EPO GATA1 IL3
43 cystic adventitial disease 10.8 IL3 KITLG
44 lacrimal system cancer 10.8 EPO IL3 RPS17
45 dic in newborn 10.8 EPO IL3 KITLG
46 glanders 10.8 EPO RPL11 RPL5 RPS17 RPS19
47 microcystic adenoma 10.8 GATA1 IL3 KITLG
48 thrombocythemia 3 10.8 EPO IL3 KITLG
49 tjp2-related familial hypercholanemia 10.8 EPO GATA1
50 afferent loop syndrome 10.7 EPO IL3 KITLG

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



Diseases related to Diamond-Blackfan Anemia

Symptoms & Phenotypes for Diamond-Blackfan Anemia

Human phenotypes related to Diamond-Blackfan Anemia:

56 32 (show all 18)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 occasional (7.5%) Occasional (29-5%) HP:0004322
2 migraine 56 32 frequent (33%) Frequent (79-30%) HP:0002076
3 cleft palate 56 32 frequent (33%) Frequent (79-30%) HP:0000175
4 fatigue 56 32 frequent (33%) Frequent (79-30%) HP:0012378
5 short nose 56 32 occasional (7.5%) Occasional (29-5%) HP:0003196
6 delayed puberty 56 32 frequent (33%) Frequent (79-30%) HP:0000823
7 arrhythmia 56 32 hallmark (90%) Very frequent (99-80%) HP:0011675
8 macrocytic anemia 56 32 frequent (33%) Frequent (79-30%) HP:0001972
9 pallor 56 32 hallmark (90%) Very frequent (99-80%) HP:0000980
10 thick lower lip vermilion 56 32 occasional (7.5%) Occasional (29-5%) HP:0000179
11 depressed nasal ridge 56 32 occasional (7.5%) Occasional (29-5%) HP:0000457
12 abnormality of the hand 56 32 frequent (33%) Frequent (79-30%) HP:0001155
13 acute leukemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002488
14 abnormality of the genital system 56 32 frequent (33%) Frequent (79-30%) HP:0000078
15 abnormality of the urinary system 56 32 frequent (33%) Frequent (79-30%) HP:0000079
16 anemia 56 Very frequent (99-80%)
17 growth delay 56 Very frequent (99-80%)
18 neoplasm 56 Occasional (29-5%)

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-1 10.53 RPS19
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 10.53 RPS29
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 10.53 RPS17
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 10.53 RPS17 RPS19 RPS29
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 10.53 RPS29
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 10.53 RPS17
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-160 10.53 RPS29
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 10.53 RPS17 RPS19 RPS29
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 10.53 RPS19
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 10.53 RPS19
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 10.53 RPS17
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-209 10.53 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 10.42 RPL5 RPS17 RPS19 RPS29 RPS7
18 Decreased viability GR00240-S-1 10.42 RPL15 RPS28
19 Decreased viability GR00381-A-1 10.42 RPS19 RPL11 RPL15 RPL27 RPL35A RPS24
20 Decreased NF-kappaB reporter expression GR00312-A 10.34 RPL26 RPL27 RPL35A RPL5 RPS10 RPS17
21 Increased G1 DNA content GR00098-A-1 10.21 GATA1 RPL11 RPL15 RPL26 RPL27 RPL35A
22 Increased viability GR00386-A-1 10.2 RPL26 RPL27 RPL35A RPL5 RPS10 RPS17
23 Decreased viability of wild-type and TP53 knockout cells GR00196-A-1 10.08 RPL11 RPL15 RPL35A RPL5 RPS10 RPS17
24 FOXO1 nuclear localization GR00247-A-1 10.06 RPS7 RPL11 RPL15 RPS24
25 FOXO1 nuclear localization GR00247-A-2 10.06 RPS7 RPL11 RPL15 RPS24
26 G0/1 arrest GR00098-A-2 10.03 RPL11 RPL27 RPL35A RPS19 RPS24 RPS26
27 Decreased Hepatitis C virus replication GR00180-A-1 10.01 RPS19 RPS24 RPS26 RPS28 RPS29 RPS7
28 Negative genetic interaction between KRASG13D/+ and KRAS+/- GR00255-A-5 9.86 RPS19 RPS26 RPS7 RPL11 RPL15 RPL27
29 Decreased cell number GR00303-A 9.85 RPL11 RPL5 RPS19 RPS29
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 Nucleoplasmic pre-40S maturation defects GR00209-A-1 9.44 RPS17 RPS24 RPS26 RPS27 RPS28 RPS29
33 Nuclear 60S biogenesis defects GR00209-A-3 9.35 RPL27 RPL35A RPL5 RPL11 RPL26

Drugs & Therapeutics for Diamond-Blackfan Anemia

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

(show top 50) (show all 86)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 4,Phase 3,Phase 2 7439-89-6 23925
2
Deferasirox Approved, Investigational Phase 4,Phase 3,Phase 2 201530-41-8 5493381
3 Liver Extracts Phase 4,Phase 2,Phase 1
4 Chelating Agents Phase 4,Phase 3,Phase 2
5 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 Phase 2, Phase 3, Early Phase 1 24356-66-9 32326 21704
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 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 4053 460612
32 Thiotepa Approved Phase 1, Phase 2 52-24-4 5453
33
Mycophenolate mofetil Approved, Investigational Phase 2,Phase 1 128794-94-5 5281078
34
Mycophenolic acid Approved Phase 2,Phase 1 24280-93-1 446541
35
Hydroxyurea Approved Phase 2,Phase 1 127-07-1 3657
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 5284616 6436030 46835353
39
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492
40
Mechlorethamine Approved 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 47)

id 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 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
20 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
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 A Study to Determine Whether Therapy With Daclizumab Will Benefit Patients With Bone Marrow Failure Terminated NCT00001962 Phase 2 Daclizumab
26 Allo-HCT MUD for Non-malignant Red Blood Cell (RBC) Disorders: Sickle Cell, Thal, and DBA: Reduced Intensity Conditioning, Co-tx MSCs Terminated NCT00957931 Phase 2
27 Related Hematopoietic Stem Cell Transplantation (HSCT) for Genetic Diseases of Blood Cells Terminated NCT02512679 Phase 2 Cyclophosphamide Dose Level 1;Cyclophosphamide Dose Level 2;Cyclophosphamide Dose Level 3;Cyclophosphamide Dose Level 4
28 Reduced Intensity Conditioning for Umbilical Cord Blood Transplant in Pediatric Patients With Non-Malignant Disorders Completed NCT00744692 Phase 1 Reduced Intensity Conditioning
29 BMT Abatacept for Non-Malignant Diseases Recruiting NCT01917708 Phase 1 Abatacept
30 Human Placental-Derived Stem Cell Transplantation Recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
31 Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant Diseases Recruiting NCT02231710 Phase 1
32 Pilot Lenalidomide in Adult Diamond-Blackfan Anemia Patients w/ RBC Transfusion-Dependent Anemia Terminated NCT01034592 Phase 1 Lenalidomide
33 Multi-Center Study of Iron Overload: Survey Study (MCSIO) Unknown status NCT01913548
34 Multi-Center Study of Iron Overload: Pilot Study Unknown status NCT01114776
35 Partially Matched Stem Cell Transplantation for Patients With Refractory Severe Aplastic Anemia or Refractory Cytopenias Completed NCT00244010
36 Study of Allogeneic Bone Marrow Transplantation Using Matched, Related Donors in Patients With Nonmalignant Hematologic Disorders Completed NCT00005893 anti-thymocyte globulin;busulfan;cyclophosphamide
37 Stem Cell Transplantation (SCT) for Genetic Diseases Completed NCT00004378
38 Diamond Blackfan Anemia Registry (DBAR) Recruiting NCT00106015
39 Cancer in Inherited Bone Marrow Failure Syndromes Recruiting NCT00027274
40 CD34+ (Non-Malignant) Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation Recruiting NCT01966367 Early Phase 1
41 Fludarabine Based RIC for Bone Marrow Failure Syndromes Recruiting NCT02928991 Early Phase 1
42 Hematopoietic Stem Cell Transplant for High Risk Hemoglobinopathies Recruiting NCT02179359 Reduced Toxicity Ablative Regimen;Reduced Intensity Preparative Regimen;Myeloablative Preparative Regimen
43 Bone Marrow and Kidney Transplant for Patients With Chronic Kidney Disease and Blood Disorders Recruiting NCT01758042
44 Investigation of the Genetics of Hematologic Diseases Recruiting NCT02720679
45 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
46 Donor Umbilical Cord Blood Transplant in Treating Patients With Hematologic Cancer Terminated NCT00290628 anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;filgrastim;melphalan;methylprednisolone;mycophenolate mofetil
47 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:

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

Anatomical Context for Diamond-Blackfan Anemia

MalaCards organs/tissues related to Diamond-Blackfan Anemia:

39
Bone, Bone Marrow, Heart, Liver, Kidney, T Cells, Myeloid

Publications for Diamond-Blackfan Anemia

Articles related to Diamond-Blackfan Anemia:

(show top 50) (show all 308)
id Title Authors Year
1
Variable expressivity and incomplete penetrance in a large family with non-classical Diamond-Blackfan anemia associated with ribosomal protein L11 splicing variant. ( 28742285 )
2017
2
Lentiviral Vectors with Cellular Promoters Correct Anemia and Lethal Bone Marrow Failure in a Mouse Model for Diamond-Blackfan Anemia. ( 28434866 )
2017
3
Molecular convergence in ex vivo models of Diamond Blackfan anemia. ( 28377399 )
2017
4
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
5
Drug discovery for Diamond-Blackfan anemia using reprogrammed hematopoietic progenitors. ( 28179501 )
2017
6
Confounding in ex vivo models of Diamond-Blackfan anemia. ( 28615220 )
2017
7
Novel 3q27.2-qter deletion in a patient with Diamond-Blackfan anemia and immunodeficiency: Case report and review of literature. ( 28432740 )
2017
8
Successful long-term management with low-dose prednisolone in an adult patient with Diamond-Blackfan anemia. ( 28883274 )
2017
9
Discrimination of Diamond-Blackfan anemia from parvovirus B19 infection by RBC glutathione. ( 28745457 )
2017
10
Erythrocyte adenosine deaminase levels are elevated in Diamond Blackfan anemia but not in the 5q- syndrome. ( 27556864 )
2016
11
Reduced-intensity conditioning and stem cell transplantation in infants with Diamond Blackfan anemia. ( 27927765 )
2016
12
Delayed globin synthesis leads to excess heme and the macrocytic anemia of Diamond Blackfan anemia and del(5q) myelodysplastic syndrome. ( 27169803 )
2016
13
Critical Diamond-Blackfan anemia due to ribosomal protein S19 missense mutation. ( 27601194 )
2016
14
Transcriptome analysis reveals a ribosome constituents disorder involved in the RPL5 downregulated zebrafish model of Diamond-Blackfan anemia. ( 26961822 )
2016
15
Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia. ( 27909223 )
2016
16
The Stomatological Complications of Diamond-Blackfan Anemia: a Case Report. ( 26864506 )
2016
17
Clinical features, mutations and treatment of 104 patients of Diamond-Blackfan anemia in China: a single-center retrospective study. ( 27329125 )
2016
18
Towards RNA Repair of Diamond-Blackfan Anemia Hematopoietic Stem Cells. ( 27550323 )
2016
19
A Novel Mutation of Ribosomal Protein S19 Gene in a Chinese Child with Diamond-Blackfan Anemia. ( 27408399 )
2016
20
ALDH2 polymorphism in patients with Diamond-Blackfan anemia in Japan. ( 26608366 )
2016
21
Diamond Blackfan Anemia: A Nonclassical Patient With Diagnosis Assisted by Genomic Analysis. ( 27258031 )
2016
22
A novel pathogenic mutation in RPL11 identified in a patient diagnosed with diamond Blackfan anemia as a young adult. ( 27667165 )
2016
23
Diagnostic challenge of Diamond-Blackfan anemia in mothers and children by whole-exome sequencing. ( 27882484 )
2016
24
Fanconi Syndrome Secondary to Deferasirox in Diamond-Blackfan Anemia: Case Series and Recommendations for Early Diagnosis. ( 27082377 )
2016
25
A new in-frame deletion in ribosomal protein S19 in a Chinese infant with Diamond-Blackfan anemia. ( 27732904 )
2016
26
Erythrocyte glutathione is a novel biomarker of Diamond-Blackfan anemia. ( 27282564 )
2016
27
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
28
Growth hormone improves short stature in children with Diamond-Blackfan anemia. ( 25492299 )
2015
29
Dysregulation of the Transforming Growth Factor I^ Pathway in Induced Pluripotent Stem Cells Generated from Patients with Diamond Blackfan Anemia. ( 26258650 )
2015
30
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
31
Partial Loss of Rpl11 in Adult Mice Recapitulates Diamond-Blackfan Anemia and Promotes Lymphomagenesis. ( 26489471 )
2015
32
Diamond-Blackfan Anemia: Death by Heme Toxicity? ( 26235290 )
2015
33
Successful use of reduced-intensity conditioning and matched-unrelated hematopoietic stem cell transplant in a child with Diamond-Blackfan anemia and cirrhosis. ( 26103586 )
2015
34
RAP-011 improves erythropoiesis in zebrafish model of Diamond-Blackfan anemia through antagonizing lefty1. ( 26109203 )
2015
35
Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation. ( 25946618 )
2015
36
In-Depth, Label-Free Analysis of the Erythrocyte Cytoplasmic Proteome in Diamond Blackfan Anemia Identifies a Unique Inflammatory Signature. ( 26474164 )
2015
37
Disruption of the 5S RNP-Mdm2 interaction significantly improves the erythroid defect in a mouse model for Diamond-Blackfan anemia. ( 25987256 )
2015
38
Endocrine Dysfunction in Diamond-Blackfan Anemia (DBA): A Report from the DBA Registry (DBAR). ( 26496000 )
2015
39
Correction: Mutation of the Diamond-Blackfan Anemia Gene Rps7 in Mouse Results in Morphological and Neuroanatomical Phenotypes. ( 26584186 )
2015
40
Elucidation of the EP defect in Diamond-Blackfan anemia by characterization and prospective isolation of human EPs. ( 25755292 )
2015
41
Adult-onset Diamond-Blackfan anemia with a novel mutation in the exon 5 of RPL11: too late and too rare. ( 26185635 )
2015
42
Alteration of heme metabolism in a cellular model of Diamond-Blackfan anemia. ( 26058344 )
2015
43
Nucleolar stress in Diamond Blackfan anemia pathophysiology. ( 24412987 )
2014
44
Diamond Blackfan anemia: a model for the translational approach to understanding human disease. ( 24665981 )
2014
45
Transcriptome analysis of Rpl11-deficient zebrafish model of Diamond-Blackfan Anemia. ( 26484089 )
2014
46
Pearson marrow pancreas syndrome in patients suspected to have Diamond-Blackfan anemia. ( 24735966 )
2014
47
Ribosomal protein mutations in Korean patients with Diamond-Blackfan anemia. ( 24675553 )
2014
48
p53-Independent cell cycle and erythroid differentiation defects in murine embryonic stem cells haploinsufficient for Diamond Blackfan anemia-proteins: RPS19 versus RPL5. ( 24558476 )
2014
49
Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28. ( 24942156 )
2014
50
Diamond-Blackfan anemia and nutritional deficiency-induced anemia in children. ( 24662257 )
2014

Variations for Diamond-Blackfan Anemia

ClinVar genetic disease variations for Diamond-Blackfan Anemia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 RPL5 RPL5, IVS2DS, T-G, +2 single nucleotide variant Pathogenic
2 RPL5 RPL5, 5-BP DEL/39-BP INS, NT498 indel Pathogenic
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 NM_000969.4(RPL5): c.244G> T (p.Glu82Ter) single nucleotide variant Pathogenic rs587777117 GRCh38 Chromosome 1, 92834833: 92834833
7 RPL5 NM_000969.4(RPL5): c.664C> T (p.Gln222Ter) single nucleotide variant Pathogenic rs587777118 GRCh37 Chromosome 1, 93303149: 93303149
8 RPL5 NM_000969.4(RPL5): c.132C> G (p.Tyr44Ter) single nucleotide variant Pathogenic rs1060503527 GRCh38 Chromosome 1, 92833603: 92833603
9 RPS19 NM_001022.3(RPS19): c.382C> T (p.Gln128Ter) single nucleotide variant Likely pathogenic rs1060503688 GRCh38 Chromosome 19, 41869724: 41869724

Copy number variations for Diamond-Blackfan Anemia from CNVD:

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

Expression for Diamond-Blackfan Anemia

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

Pathways for Diamond-Blackfan Anemia

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

(show all 13)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.94 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
2
Show member pathways
13.71 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
3
Show member pathways
13.67 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
4
Show member pathways
13.6 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
5
Show member pathways
13.53 KITLG RPL11 RPL15 RPL26 RPL27 RPL35A
6
Show member pathways
12.48 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
7
Show member pathways
12.3 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
8
Show member pathways
12.2 RPS10 RPS17 RPS19 RPS24 RPS26 RPS27
9 11.83 GATA1 IL3 KITLG
10 11.75 EPO IL3 KITLG
11 11.66 EPO IL3 KITLG
12 11.44 EPO GATA1 IL3 KITLG
13 11.33 EPO IL3 KITLG

GO Terms for Diamond-Blackfan Anemia

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 nucleolus GO:0005730 9.99 RPL11 RPL26 RPL5 RPS10 RPS19 RPS7
2 focal adhesion GO:0005925 9.98 RPL27 RPL5 RPS10 RPS17 RPS19 RPS29
3 extracellular matrix GO:0031012 9.91 RPL11 RPL27 RPL35A RPS10 RPS17 RPS19
4 intracellular ribonucleoprotein complex GO:0030529 9.83 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
5 cytosolic large ribosomal subunit GO:0022625 9.8 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
6 small ribosomal subunit GO:0015935 9.71 RPS24 RPS26 RPS28 RPS29
7 cytosolic small ribosomal subunit GO:0022627 9.28 RPS10 RPS17 RPS19 RPS24 RPS26 RPS27
8 cytosol GO:0005829 10.37 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
9 extracellular exosome GO:0070062 10.27 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
10 nucleoplasm GO:0005654 10.26 GATA1 RPL11 RPL26 RPS10 RPS17 RPS19
11 intracellular GO:0005622 10.13 IL3 RPL11 RPL15 RPL26 RPL27 RPL35A
12 ribosome GO:0005840 10.03 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5

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

(show all 23)
id Name GO ID Score Top Affiliating Genes
1 ribosomal small subunit biogenesis GO:0042274 9.83 RPS17 RPS19 RPS24 RPS28 RPS7
2 translational initiation GO:0006413 9.83 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
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 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.77 GATA1 IL3 KITLG
6 erythrocyte differentiation GO:0030218 9.75 EPO GATA1 RPS19
7 positive regulation of DNA replication GO:0045740 9.74 EPO IL3 KITLG
8 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) GO:0000462 9.71 RPS19 RPS24 TSR2
9 embryonic hemopoiesis GO:0035162 9.7 GATA1 IL3 KITLG
10 negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process GO:2000059 9.69 RPL11 RPL5 RPS7
11 negative regulation of ubiquitin protein ligase activity GO:1904667 9.67 RPL11 RPL5 RPS7
12 ribosomal large subunit assembly GO:0000027 9.61 RPL11 RPL5
13 positive regulation of Ras protein signal transduction GO:0046579 9.61 EPO KITLG
14 maturation of SSU-rRNA GO:0030490 9.6 RPS19 RPS28
15 erythrocyte homeostasis GO:0034101 9.58 RPS17 RPS24
16 negative regulation of protein neddylation GO:2000435 9.55 RPL11 RPL5
17 SRP-dependent cotranslational protein targeting to membrane GO:0006614 9.5 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
18 positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator GO:1902255 9.26 RPS7
19 cytoplasmic translation GO:0002181 9.16 RPL15
20 rRNA processing GO:0006364 10.27 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
21 translation GO:0006412 10.2 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
22 viral transcription GO:0019083 10.13 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
23 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO:0000184 10.03 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5

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

id Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.8 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
2 structural constituent of ribosome GO:0003735 9.5 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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