Congenital Amegakaryocytic Thrombocytopenia

Common Name(s)

Congenital Amegakaryocytic Thrombocytopenia

Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare disorder expressed in infancy and characterized by isolated thrombocytopenia and megakaryocytopenia with no physical anomalies ({5:Muraoka et al., 1997}). {4:King et al. (2005)} proposed a new classification of CAMT based on the course and outcome of the disease, as exemplified by 20 patients: CAMT type I (11 patients) was characterized by early onset of severe pancytopenia, decreased bone marrow activity, and very low platelet counts. CAMT type II (9 patients) was somewhat milder and characterized by transient increases of platelet counts up to nearly normal values during the first year of life and an onset of bone marrow failure at age 3 or later.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Congenital Amegakaryocytic Thrombocytopenia" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Congenital Amegakaryocytic Thrombocytopenia" returned 9 free, full-text research articles on human participants. First 3 results:

Congenital amegakaryocytic thrombocytopenia iPS cells exhibit defective MPL-mediated signaling.
 

Author(s): Shinji Hirata, Naoya Takayama, Ryoko Jono-Ohnishi, Hiroshi Endo, Sou Nakamura, Takeaki Dohda, Masanori Nishi, Yuhei Hamazaki, Ei-ichi Ishii, Shin Kaneko, Makoto Otsu, Hiromitsu Nakauchi, Shinji Kunishima, Koji Eto

Journal: J. Clin. Invest.. 2013 Sep;123(9):3802-14.

 

Congenital amegakaryocytic thrombocytopenia (CAMT) is caused by the loss of thrombopoietin receptor-mediated (MPL-mediated) signaling, which causes severe pancytopenia leading to bone marrow failure with onset of thrombocytopenia and anemia prior to leukopenia. Because Mpl(-/-) mice ...

Last Updated: 3 Sep 2013

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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.
 

Author(s): Norma E Fox, Jihyang Lim, Rose Chen, Amy E Geddis

Journal: Exp. Hematol.. 2010 May;38(5):384-91.

 

To determine whether specific c-Mpl mutations might respond to thrombopoietin receptor agonists.

Last Updated: 13 Apr 2010

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Clonal chromosome anomalies and propensity to myeloid malignancies in congenital amegakaryocytic thrombocytopenia (OMIM 604498).
 

Author(s): Emanuela Maserati, Claudio Panarello, Cristina Morerio, Roberto Valli, Barbara Pressato, Francesco Patitucci, Elisa Tassano, Alessandra Di Cesare-Merlone, Chiara Cugno, Carlo L Balduini, Francesco Lo Curto, Carlo Dufour, Franco Locatelli, Francesco Pasquali

Journal: Haematologica. 2008 Aug;93(8):1271-3.

 

Last Updated: 1 Aug 2008

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Congenital Amegakaryocytic Thrombocytopenia" returned 2 free, full-text review articles on human participants. First 3 results:

Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii.
 

Author(s): Amy E Geddis

Journal: Hematol. Oncol. Clin. North Am.. 2009 Apr;23(2):321-31.

 

Thrombocytopenia is a relatively common clinical problem in hospitalized neonates, and it is critical to distinguish infants who have rare congenital thrombocytopenias from those who have acquired disorders. Two well-described inherited thrombocytopenia syndromes that present in the ...

Last Updated: 30 Mar 2009

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Compound heterozygous c-Mpl mutations in a child with congenital amegakaryocytic thrombocytopenia: functional characterization and a review of the literature.
 

Author(s): Norma E Fox, Rose Chen, Ian Hitchcock, Jennifer Keates-Baleeiro, Haydar Frangoul, Amy E Geddis

Journal: Exp. Hematol.. 2009 Apr;37(4):495-503.

 

To genetically and functionally characterize mutations of c-Mpl that lead to thrombocytopenia in a child with congenital amegakaryocytic thrombocytopenia.

Last Updated: 23 Mar 2009

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells
 

Status: Recruiting

Condition Summary: Sickle Cell Disease; Thalassemia; Anemia; Granuloma; Wiskott-Aldrich Syndrome; Chediak Higashi Syndrome; Osteopetrosis; Neutropenia; Thrombocytopenia; Hurler Disease; Niemann-Pick Disease; Fucosidosis

 

Last Updated: 22 Jun 2011

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Reduced Intensity Conditioning in Patients Aged ≤35 With Non-Malignant Disorders Undergoing UCBT, BMT, or PBSCT
 

Status: Recruiting

Condition Summary: Primary Immunodeficiency Syndromes; Congenital Bone Marrow Failure Syndromes; Inherited Metabolic Disorders (IMD); Hereditary Anemias; Patients With Sickle Disease Presenting Specific Symptoms

 

Last Updated: 10 Dec 2014

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CD34+ Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation for Non-Malignant Disease
 

Status: Recruiting

Condition Summary: Bone Marrow Failure Syndrome; Severe Aplastic Anemia; Severe Congenital Neutropenia; Amegakaryocytic Thrombocytopenia; Diamond-Blackfan Anemia; Schwachman Diamond Syndrome; Primary Immunodeficiency Syndromes; Acquired Immunodeficiency Syndromes; Histiocytic Syndrome; Familial Hemophagocytic Lymphocytosis; Lymphohistiocytosis; Macrophage Activation Syndrome; Langerhans Cell Histiocytosis (LCH); Hemoglobinopathies; Sickle Cell Disease; Sickle Cell-beta-thalassemia

 

Last Updated: 17 Oct 2013

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