congenital amegakaryocytic thrombocytopenia
Information
- Disease name
- congenital amegakaryocytic thrombocytopenia
- Disease ID
- DOID:0090118
- Description
- "A thrombocytopenia that is characterized by a severe reduction in megakaryocyte and platelet numbers, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the myeloproliferative leukemia virus oncogene (MPL) on chromosome 1p34." [url:https\://www.ncbi.nlm.nih.gov/pubmed/29191945, url:https\://www.ncbi.nlm.nih.gov/pubmed/29384262, url:https\://www.omim.org/entry/604498]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT03333486 | Active, not recruiting | Phase 2 | Fludarabine Phosphate, Cyclophosphamide, Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Blood Cancer | December 7, 2017 | August 28, 2024 |
| NCT00295971 | Completed | Phase 1 | Donor Stem Cell Transplant in Treating Young Patients With Myelodysplastic Syndrome, Leukemia, Bone Marrow Failure Syndrome, or Severe Immunodeficiency Disease | April 2005 | December 2011 |
| 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 |
| 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 |
| 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 |
- Disase is a (Disease Ontology)
- DOID:1588
- Cross Reference ID (Disease Ontology)
- GARD:640
- Cross Reference ID (Disease Ontology)
- MESH:C535982
- Cross Reference ID (Disease Ontology)
- MIM:604498
- Cross Reference ID (Disease Ontology)
- NCI:C115207
- Cross Reference ID (Disease Ontology)
- ORDO:3319
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:716336002
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1327915
- Exact Synonym (Disease Ontology)
- CAMT
- Exact Synonym (Disease Ontology)
- congenital amegakaryocytic thrombocytopenic purpura
- OrphaNumber from OrphaNet (Orphanet)
- 3319