Congenital amegakaryocytic thrombocytopenia

A rare autosomal recessive disorder with onset in infancy and characterized by isolated thrombocytopenia and megakaryocytopenia with no physical anomalies. Mutations in the MPL gene have been identified. OMIM: 604498

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Networked: 45 relevant articles (1 outcomes, 0 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Thrombocytopenia (Thrombopenia)
2.	Pancytopenia
3.	Leukemia
4.	Aplastic Anemia (Anemia, Hypoplastic)
5.	Precursor Cell Lymphoblastic Leukemia-Lymphoma (Acute Lymphoblastic Leukemia)

Experts

1.	Ballmaier, M: 3 articles (05/2003 - 06/2001)
2.	Germeshausen, M: 3 articles (05/2003 - 06/2001)
3.	Welte, K: 3 articles (05/2003 - 06/2001)
4.	Balduini, Carlo L: 2 articles (01/2018 - 09/2007)
5.	Savoia, Anna: 2 articles (01/2018 - 09/2007)
6.	Locatelli, Franco: 2 articles (02/2014 - 09/2007)
7.	Geddis, Amy E: 2 articles (05/2010 - 07/2006)
8.	Germeshausen, Manuela: 2 articles (06/2009 - 08/2005)
9.	Krukemeier, S: 2 articles (05/2003 - 07/2001)
10.	Bruin, M: 2 articles (03/2002 - 08/2000)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Congenital amegakaryocytic thrombocytopenia:

1.	Cyclosporine (Ciclosporin)FDA LinkGeneric 06/01/2000 - "Congenital amegakaryocytic thrombocytopenia (CAT), a rare syndrome with failure of megakaryopoiesis, cannot be cured by immunoglobulins, steroids or cyclosporin, but only by allogeneic bone marrow transplantation (BMT). "
2.	SteroidsIBA 06/01/2000 - "Congenital amegakaryocytic thrombocytopenia (CAT), a rare syndrome with failure of megakaryopoiesis, cannot be cured by immunoglobulins, steroids or cyclosporin, but only by allogeneic bone marrow transplantation (BMT). "
3.	Immunoglobulins (Immunoglobulin)IBA 06/01/2000 - "Congenital amegakaryocytic thrombocytopenia (CAT), a rare syndrome with failure of megakaryopoiesis, cannot be cured by immunoglobulins, steroids or cyclosporin, but only by allogeneic bone marrow transplantation (BMT). "
4.	Thrombopoietin ReceptorsIBA 12/01/2022 - "Congenital amegakaryocytic thrombocytopenia presenting with a new thrombopoietin receptor (MPL) pathogenic variant: An instructive neonatal case." 05/01/2010 - "These findings suggest that a small subset of patients with congenital amegakaryocytic thrombocytopenia might respond to treatment with thrombopoietin receptor agonists, but that responsiveness will depend on the type of mutation and agonist used. " 05/01/2010 - "F104S c-Mpl responds to a transmembrane domain-binding thrombopoietin receptor agonist: proof of concept that selected receptor mutations in congenital amegakaryocytic thrombocytopenia can be stimulated with alternative thrombopoietic agents." 06/01/2009 - "Most of the cases of congenital amegakaryocytic thrombocytopenia are caused by defective expression or function of the thrombopoietin receptor due to homozygous or compound heterozygous mutations in the gene MPL. " 03/01/2007 - "All patients with congenital amegakaryocytic thrombocytopenia have mutations in the thrombopoietin receptor gene c-Mpl."
5.	Thrombopoietin (c-mpl Ligand)IBA 01/01/2018 - "Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim." 04/01/2014 - "Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare, autosomal recessive disorder induced by mutations of the gene coding for thrombopoietin (TPO) receptor (c-MPL) despite high levels of serum TPO. " 01/01/2013 - "The marrow findings and a significantly elevated plasma thrombopoietin (Tpo) level were consistent with congenital amegakaryocytic thrombocytopenia; we sought a genetic mutation that could explain this phenotype. " 09/01/2007 - "Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare, autosomal recessive disorder induced by mutations of the gene coding for thrombopoietin (TPO) receptor (c-MPL). " 12/01/2021 - "Congenital amegakaryocytic thrombocytopenia (CAMT) is a severe inherited thrombocytopenia due to loss-of-function mutations affecting the thrombopoietin (TPO) receptor, MPL. "
6.	Nonsense Codon (Nonsense Mutation)IBA 02/01/2011 - "A novel nonsense mutation in the MPL gene in congenital amegakaryocytic thrombocytopenia."
7.	Growth Factor ReceptorsIBA 06/01/2001 - "Mutations in the genes of hematopoietic growth factor receptors as a cause of congenital cytopenia, such as congenital amegakaryocytic thrombocytopenia (CAMT) or severe congenital neutropenia (CN), are discussed. "
8.	Granulocyte-Macrophage Colony-Stimulating Factor (GM-CSF)IBA 04/01/1993 - "Effects of interleukin-3 and granulocyte-macrophage colony-stimulating factor on thrombopoiesis in congenital amegakaryocytic thrombocytopenia."
9.	Messenger RNA (mRNA)IBA 02/01/1997 - "Defective response to thrombopoietin and impaired expression of c-mpl mRNA of bone marrow cells in congenital amegakaryocytic thrombocytopenia."
10.	Proteins (Proteins, Gene)FDA Link 01/01/2017 - "Mutations in the human myeloproliferative leukemia (MPL) protein gene are known to cause congenital amegakaryocytic thrombocytopenia (CAMT). "

Therapies and Procedures

1.	Bone Marrow Transplantation (Transplantation, Bone Marrow) 05/01/2015 - "Congenital amegakaryocytic thrombocytopenia: a case report of pediatric twins undergoing matched unrelated bone marrow transplantation." 02/01/2005 - "Successful bone marrow transplantation in a patient with c-mpl-mutated congenital amegakaryocytic thrombocytopenia from a carrier donor." 04/01/1998 - "Congenital amegakaryocytic thrombocytopenia is an extremely rare disorder for which bone marrow transplantation offers the only possibility for cure. " 05/01/1995 - "Bone marrow transplantation in two children with congenital amegakaryocytic thrombocytopenia." 03/01/2013 - "Three children treated with bone marrow transplantation for acute lymphoblastic leukemia, Diamond-Blackfan anemia, and congenital amegakaryocytic thrombocytopenia developed secondary osteosarcoma in the left tibia at the age of 13, 13, and 9 years, respectively, at 51, 117, and 106 months after transplantation, respectively. "
2.	Hematopoietic Stem Cell Transplantation 11/01/2022 - "Haploidentical Hematopoietic Stem Cell Transplantation in a 3-Year-Old Girl with Congenital Amegakaryocytic Thrombocytopenia: A Case Report." 01/01/2022 - "Outcomes in Hematopoietic Stem Cell Transplantation for Congenital Amegakaryocytic Thrombocytopenia." 02/01/2014 - "We report on the successful infusion of human adenovirus (HAdV)-specific T cells in a child with congenital amegakaryocytic thrombocytopenia, given T-cell-depleted hematopoietic stem cell transplantation (HSCT) from the HLA-haploidentical mother during extracorporeal membrane oxygenation (ECMO) for severe HAdV-related respiratory failure. " 08/01/2005 - "Reduced intensity hematopoietic stem-cell transplantation across human leukocyte antigen barriers in a patient with congenital amegakaryocytic thrombocytopenia and monosomy 7."
3.	Transplantation 11/01/2015 - "Durable engraftment and correction of hematological abnormalities in children with congenital amegakaryocytic thrombocytopenia following myeloablative umbilical cord blood transplantation." 02/01/2014 - "Reduced intensity transplantation for congenital amegakaryocytic thrombocytopenia: report of a case and review of the literature." 03/01/2007 - "A 44-month old girl with congenital amegakaryocytic thrombocytopenia, already with pancytopenia, underwent an unrelated allogeneic cord blood transplantation with recovery of normal blood cell counts. " 03/01/2013 - "Three children treated with bone marrow transplantation for acute lymphoblastic leukemia, Diamond-Blackfan anemia, and congenital amegakaryocytic thrombocytopenia developed secondary osteosarcoma in the left tibia at the age of 13, 13, and 9 years, respectively, at 51, 117, and 106 months after transplantation, respectively. "
4.	Stem Cell Transplantation 04/01/2004 - "Five patients with confirmed congenital amegakaryocytic thrombocytopenia (CAT) underwent stem cell transplantation (SCT) from HLA-matched related donors at King Faisal Specialist Hospital and Research Center (KFSHRC). " 04/01/2004 - "Allogeneic stem cell transplantation for patients with congenital amegakaryocytic thrombocytopenia (CAT)." 08/12/2000 - "[Congenital amegakaryocytic thrombocytopenia: indication for allogeneic stem cell transplantation]."
5.	Peripheral Blood Stem Cell Transplantation (Peripheral Stem Cell Transplantation) 09/01/2000 - "We present a 13-month-old girl who was diagnosed as having congenital amegakaryocytic thrombocytopenia and was successfully treated with allogeneic peripheral stem cell transplantation (PSCT) from her fully matched sibling donor. "