MCID: DMN005
MIFTS: 22

Diamond-Blackfan Anemia 2

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

Aliases & Classifications for Diamond-Blackfan Anemia 2

MalaCards integrated aliases for Diamond-Blackfan Anemia 2:

Name: Diamond-Blackfan Anemia 2 54 50 13
Anemia, Diamond-Blackfan, 2 69
Anemia Diamond-Blackfan 2 50
Dba2 50

Classifications:



External Ids:

OMIM 54 606129

Summaries for Diamond-Blackfan Anemia 2

OMIM : 54
Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013). For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (105650). (606129)

MalaCards based summary : Diamond-Blackfan Anemia 2, also known as anemia, diamond-blackfan, 2, is related to diamond-blackfan anemia. An important gene associated with Diamond-Blackfan Anemia 2 is DBA2 (Diamond-Blackfan Anemia 2). The drugs Iron and Deferasirox have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and heart.

Symptoms & Phenotypes for Diamond-Blackfan Anemia 2

Clinical features from OMIM:

606129

Drugs & Therapeutics for Diamond-Blackfan Anemia 2

Drugs for Diamond-Blackfan Anemia 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 81)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 4,Phase 2 7439-89-6 23925
2
Deferasirox Approved, Investigational Phase 4,Phase 2 201530-41-8 5493381
3 Liver Extracts Phase 4,Phase 2,Phase 1
4 Chelating Agents Phase 4,Phase 2
5 Iron Chelating Agents Phase 4,Phase 2
6 Micronutrients Phase 4,Phase 2
7 Trace Elements Phase 4,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 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 Alkylating Agents Phase 2, Phase 3, Phase 1, Early Phase 1
15 Anti-Infective Agents Phase 2, Phase 3, Phase 1, Early Phase 1
16 Antilymphocyte Serum Phase 2, Phase 3, Phase 1
17 Antimetabolites Phase 2, Phase 3, Phase 1, Early Phase 1
18 Antimetabolites, Antineoplastic Phase 2, Phase 3, Phase 1, Early Phase 1
19 Antiviral Agents Phase 2, Phase 3, Early Phase 1
20 Immunosuppressive Agents Phase 2, Phase 3, Phase 1, Early Phase 1
21 Adjuvants, Immunologic Phase 2, Phase 3
22 Antirheumatic Agents Phase 2, Phase 3,Phase 1,Early Phase 1
23
rituximab Approved Phase 2 174722-31-7 10201696
24
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
25
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
26
Methylprednisolone Approved, Vet_approved Phase 2,Phase 1 83-43-2 6741
27
Prednisolone Approved, Vet_approved Phase 2,Phase 1 50-24-8 5755
28
Deferoxamine Approved, Investigational Phase 2 70-51-9 2973
29
Prednisone Approved, Vet_approved Phase 1, Phase 2 53-03-2 5865
30
Everolimus Approved Phase 2,Phase 1 159351-69-6 6442177
31
Sirolimus Approved, Investigational Phase 2,Phase 1 53123-88-9 5284616 6436030 46835353
32
Melphalan Approved Phase 1, Phase 2 148-82-3 4053 460612
33
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492
34 Thiotepa Approved Phase 1, Phase 2 52-24-4 5453
35
Hydroxyurea Approved Phase 2 127-07-1 3657
36
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
37
Mycophenolic acid Approved Phase 2 24280-93-1 446541
38
Mechlorethamine Approved Phase 2 51-75-2 4033
39
Daclizumab Approved, Investigational Phase 2 152923-56-3
40
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
41
leucovorin Approved, Nutraceutical Phase 2 58-05-9 143 6006
42
Treosulfan Investigational Phase 2 299-75-2 9296
43 Antibodies Phase 2
44 Antibodies, Monoclonal Phase 2
45 Immunoglobulins Phase 2
46 Antifungal Agents Phase 2
47 Calcineurin Inhibitors Phase 2,Phase 1
48 Cyclosporins Phase 2
49 Dermatologic Agents Phase 2
50 Antiemetics Phase 2,Phase 1

Interventional clinical trials:

(show all 31)

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 Stem Cell Transplant for Hemoglobinopathy Active, not recruiting NCT00176852 Phase 2, Phase 3 Busulfan, Fludarabine, ATG, TLI;Busulfan, Cyclophosphamide, ATG, GCSF;Campath, Fludarabine, Cyclophosphamide
4 L-leucine in Diamond Blackfan Anemia Patients Unknown status NCT02386267 Phase 2 L-leucine
5 Mobilization of Stem Cells With G-CSF for Collection From Patients With Diamond-Blackfan Anemia Completed NCT00011505 Phase 2 G-CSF
6 Rituximab to Treat Moderate Aplastic Anemia, Pure Red Cell Aplasia, or Diamond Blackfan Anemia Completed NCT00229619 Phase 2 Rituximab
7 Allogeneic Bone Marrow Transplantation for the Treatment of Genetic Disorders of Erythropoiesis Completed NCT00578435 Phase 2
8 Medical Treatment for Diamond Blackfan Anemia Completed NCT00001749 Phase 2 Antithymocyte globulin;Cyclosporine
9 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
10 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
11 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
12 Study of Deferasirox in Iron Overload From Beta-thalassemia Unable to be Treated With Deferoxamine or Chronic Anemias Completed NCT00061763 Phase 2 Deferasirox
13 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
14 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
15 Improving the Results of Bone Marrow Transplantation for Patients With Severe Congenital Anemias Recruiting NCT00061568 Phase 2 Alemtuzumab (Campath );Sirolimus (Rapamune )
16 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
17 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
18 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
19 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
20 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
21 Phase I/II Pilot Study of Mixed Chimerism to Treat Hemoglobinopathies Suspended NCT01419704 Phase 1, Phase 2
22 A Study to Determine Whether Therapy With Daclizumab Will Benefit Patients With Bone Marrow Failure Terminated NCT00001962 Phase 2 Daclizumab
23 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
24 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
25 Pilot Lenalidomide in Adult Diamond-Blackfan Anemia Patients w/ RBC Transfusion-Dependent Anemia Terminated NCT01034592 Phase 1 Lenalidomide
26 Multi-Center Study of Iron Overload: Survey Study (MCSIO) Unknown status NCT01913548
27 Bone Marrow and Kidney Transplant for Patients With Chronic Kidney Disease and Blood Disorders Recruiting NCT01758042
28 Fludarabine Based RIC for Bone Marrow Failure Syndromes Recruiting NCT02928991 Early Phase 1
29 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
30 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation Terminated NCT01319851 Alefacept
31 Donor Umbilical Cord Blood Transplant in Treating Patients With Hematologic Cancer Terminated NCT00290628 anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;filgrastim;melphalan;methylprednisolone;mycophenolate mofetil

Search NIH Clinical Center for Diamond-Blackfan Anemia 2

Genetic Tests for Diamond-Blackfan Anemia 2

Anatomical Context for Diamond-Blackfan Anemia 2

MalaCards organs/tissues related to Diamond-Blackfan Anemia 2:

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

Publications for Diamond-Blackfan Anemia 2

Variations for Diamond-Blackfan Anemia 2

Expression for Diamond-Blackfan Anemia 2

Search GEO for disease gene expression data for Diamond-Blackfan Anemia 2.

Pathways for Diamond-Blackfan Anemia 2

GO Terms for Diamond-Blackfan Anemia 2

Sources for Diamond-Blackfan Anemia 2

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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