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Congenital Amegakaryocytosis

MedGen UID:
454818
•Concept ID:
C2982591
•
Disease or Syndrome

Definition

A rare disorder of infancy characterized by marked reduction or absence of megakaryocytes and thrombocytopenia. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital Amegakaryocytosis

Professional guidelines

PubMed

Plasma thrombopoietin levels as additional tool in clinical management of thrombocytopenic neonates.
Porcelijn L, Huiskes E, Onderwater-Van Den Hoogen L, Folman CC, Zwaginga JJ, De Haas M
Platelets 2020;31(1):62-67. Epub 2019 Feb 13 doi: 10.1080/09537104.2019.1572877. PMID: 30759044

Recent clinical studies

Etiology

The expression of cytokine and cytokine receptor genes in long-term bone marrow culture in congenital and acquired bone marrow hypoplasias.
Stark R, Andre C, Thierry D, Cherel M, Galibert F, Gluckman E
Br J Haematol 1993 Apr;83(4):560-6. doi: 10.1111/j.1365-2141.1993.tb04691.x. PMID: 7686032

Diagnosis

Plasma thrombopoietin levels as additional tool in clinical management of thrombocytopenic neonates.
Porcelijn L, Huiskes E, Onderwater-Van Den Hoogen L, Folman CC, Zwaginga JJ, De Haas M
Platelets 2020;31(1):62-67. Epub 2019 Feb 13 doi: 10.1080/09537104.2019.1572877. PMID: 30759044
Inherited thrombocytopenia: Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii.
Geddis AE
Semin Hematol 2006 Jul;43(3):196-203. doi: 10.1053/j.seminhematol.2006.04.003. PMID: 16822462

Therapy

Plasma thrombopoietin levels as additional tool in clinical management of thrombocytopenic neonates.
Porcelijn L, Huiskes E, Onderwater-Van Den Hoogen L, Folman CC, Zwaginga JJ, De Haas M
Platelets 2020;31(1):62-67. Epub 2019 Feb 13 doi: 10.1080/09537104.2019.1572877. PMID: 30759044

Prognosis

Plasma thrombopoietin levels as additional tool in clinical management of thrombocytopenic neonates.
Porcelijn L, Huiskes E, Onderwater-Van Den Hoogen L, Folman CC, Zwaginga JJ, De Haas M
Platelets 2020;31(1):62-67. Epub 2019 Feb 13 doi: 10.1080/09537104.2019.1572877. PMID: 30759044

Clinical prediction guides

Plasma thrombopoietin levels as additional tool in clinical management of thrombocytopenic neonates.
Porcelijn L, Huiskes E, Onderwater-Van Den Hoogen L, Folman CC, Zwaginga JJ, De Haas M
Platelets 2020;31(1):62-67. Epub 2019 Feb 13 doi: 10.1080/09537104.2019.1572877. PMID: 30759044

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