Diamond-Blackfan anemia

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Information
Disease name
Diamond-Blackfan anemia
Disease ID
DOID:1339
Description
"A pure red-cell aplasia 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." [url:http\://en.wikipedia.org/wiki/Diamond%E2%80%93Blackfan_anemia, url:http\://ghr.nlm.nih.gov/condition/diamond-blackfan-anemia, url:http\://www.cdc.gov/ncbddd/dba/, url:http\://www.omim.org/entry/105650]
Disease area statistics
Chromosome band
Gene symbol Chromosome Start Stop The number of variant
RPS19 19 41,860,255 41,872,925 28
RPL31 2 101,002,283 101,019,728 4
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT01966367 Active, not recruiting Phase 1/Phase 2 CD34+ (Non-Malignant) Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation March 2013 February 2030
NCT00176878 Completed Phase 2/Phase 3 Stem Cell Transplant for Bone Marrow Failure Syndromes June 2000 March 2009
NCT00244010 Completed N/A Partially Matched Stem Cell Transplantation for Patients With Refractory Severe Aplastic Anemia or Refractory Cytopenias October 2005 February 2009
NCT00176852 Completed Phase 2/Phase 3 Stem Cell Transplant for Hemoglobinopathy June 2002 January 2020
NCT00301834 Completed Phase 2 Alemtuzumab, Fludarabine, and Busulfan Followed By Donor Stem Cell Transplant in Treating Young Patients With Hematologic Disorders January 2005 September 2011
NCT00305708 Completed Phase 1/Phase 2 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 Remission August 2000 July 2004
NCT00673608 Completed Phase 4 Magnetic Resonance Imaging (MRI) Assessments of the Heart and Liver Iron Load in Patients With Transfusion Induced Iron Overload November 2007 September 2011
NCT00957931 Completed Phase 2 Allo-HCT MUD for Non-malignant Red Blood Cell (RBC) Disorders: Sickle Cell, Thal, and DBA: Reduced Intensity Conditioning, Co-tx MSCs March 2009 August 2013
NCT01114776 Completed Multi-Center Study of Iron Overload: Pilot Study November 1, 2009 September 30, 2013
NCT01917708 Completed Phase 1 Bone Marrow Transplant With Abatacept for Non-Malignant Diseases January 2014 September 19, 2019
NCT01529827 Completed Phase 2 Fludarabine Phosphate, Melphalan, and Low-Dose Total-Body Irradiation Followed by Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies February 28, 2012 August 29, 2019
NCT01913548 Completed Multi-Center Study of Iron Overload: Survey Study (MCSIO) March 31, 2010 October 31, 2013
NCT01586455 Completed Phase 1 Human Placental-Derived Stem Cell Transplantation April 2013 September 2022
NCT04965597 Recruiting Phase 2 Treosulfan-Based Conditioning Regimen Before a Blood or Bone Marrow Transplant for the Treatment of Bone Marrow Failure Diseases (BMT CTN 1904) April 19, 2022 December 2026
NCT02720679 Recruiting Investigation of the Genetics of Hematologic Diseases June 17, 2016 July 2050
NCT03050268 Recruiting Familial Investigations of Childhood Cancer Predisposition April 6, 2017 March 31, 2037
NCT03653338 Recruiting Phase 1/Phase 2 T-Cell Depleted Alternative Donor Bone Marrow Transplant for Sickle Cell Disease (SCD) and Other Anemias August 2, 2018 August 1, 2026
NCT00290628 Terminated N/A Donor Umbilical Cord Blood Transplant in Treating Patients With Hematologic Cancer October 1999 April 2007
NCT01319851 Terminated N/A Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation September 2010 September 2013
NCT02512679 Terminated Phase 2 Related Hematopoietic Stem Cell Transplantation (HSCT) for Genetic Diseases of Blood Cells February 2007 February 2014
NCT01419704 Withdrawn Phase 1/Phase 2 Phase I/II Pilot Study of Mixed Chimerism to Treat Hemoglobinopathies May 2011 May 2016
Disase is a (Disease Ontology)
DOID:1340
Cross Reference ID (Disease Ontology)
GARD:6274
Cross Reference ID (Disease Ontology)
ICD10CM:D61.01
Cross Reference ID (Disease Ontology)
MESH:D029503
Cross Reference ID (Disease Ontology)
MIM:PS105650
Cross Reference ID (Disease Ontology)
NCI:C61236
Cross Reference ID (Disease Ontology)
ORDO:124
Exact Synonym (Disease Ontology)
Blackfan - Diamond syndrome
Exact Synonym (Disease Ontology)
chronic constitutional pure red cell anaemia
OMIM Phenotype Series Number (OMIM)
PS105650