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Congenital amegakaryocytic thrombocytopenia 1(CAMT1)

MedGen UID:
1845022
•Concept ID:
C5882667
•
Disease or Syndrome
Synonym: CAMT1
 
Gene (location): MPL (1p34.2)
 
Monarch Initiative: MONDO:0800452
OMIM®: 604498

Definition

Congenital amegakaryocytic thrombocytopenia-1 (CAMT1) is an autosomal recessive disorder characterized by onset of thrombocytopenia and megakaryocytopenia in infancy or early childhood. The disorder is progressive and evolves to pancytopenia and bone marrow failure. Serum thrombopoietin is elevated. There is a favorable response to bone marrow transplantation (Muraoka et al., 1997; King et al., 2005). Genetic Heterogeneity of Congenital Amegakaryocytic Thrombocytopenia CAMT2 (620481) is caused by mutation in the THPO gene (600044) on chromosome 3q27. [from OMIM]

Clinical features

From HPO
Cerebellar vermis hypoplasia
MedGen UID:
333548
•Concept ID:
C1840379
•
Finding
Underdevelopment of the vermis of cerebellum.
See: Feature record | Search on this feature
Pancytopenia
MedGen UID:
18281
•Concept ID:
C0030312
•
Disease or Syndrome
An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).
See: Feature record | Search on this feature
Thrombocytopenia
MedGen UID:
52737
•Concept ID:
C0040034
•
Disease or Syndrome
A reduction in the number of circulating thrombocytes.
See: Feature record | Search on this feature
Amegakaryocytic thrombocytopenia
MedGen UID:
97985
•Concept ID:
C0398639
•
Disease or Syndrome
Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes.
See: Feature record | Search on this feature
Megakaryocytopenia
MedGen UID:
346881
•Concept ID:
C1858312
•
Finding
A reduced count of megakaryocytes.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Inherited thrombocytopenias: an approach to diagnosis and management.
Geddis AE
Int J Lab Hematol 2013 Feb;35(1):14-25. Epub 2012 Jul 30 doi: 10.1111/j.1751-553X.2012.01454.x. PMID: 22846067

Recent clinical studies

Etiology

Outcomes in Hematopoietic Stem Cell Transplantation for Congenital Amegakaryocytic Thrombocytopenia.
Cancio M, Hebert K, Kim S, Aljurf M, Olson T, Anderson E, Burroughs L, Vatsayan A, Myers K, Hashem H, Hanna R, Horn B, Prestidge T, Boelens JJ, Boulad F, Eapen M
Transplant Cell Ther 2022 Feb;28(2):101.e1-101.e6. Epub 2021 Oct 17 doi: 10.1016/j.jtct.2021.10.009. PMID: 34670170Free PMC Article
Neonatal manifestations of inherited bone marrow failure syndromes.
Khincha PP, Savage SA
Semin Fetal Neonatal Med 2016 Feb;21(1):57-65. Epub 2015 Dec 24 doi: 10.1016/j.siny.2015.12.003. PMID: 26724991Free PMC Article
Genetic predisposition syndromes: when should they be considered in the work-up of MDS?
Babushok DV, Bessler M
Best Pract Res Clin Haematol 2015 Mar;28(1):55-68. Epub 2014 Nov 12 doi: 10.1016/j.beha.2014.11.004. PMID: 25659730Free PMC Article
MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease.
Germeshausen M, Ballmaier M, Welte K
Hum Mutat 2006 Mar;27(3):296. doi: 10.1002/humu.9415. PMID: 16470591
Haematopoietic stem cell transplantation for amegakaryocytic thrombocytopenia.
Lackner A, Basu O, Bierings M, Lassay L, Schaefer UW, Révész T, Havers W, Kremens B
Br J Haematol 2000 Jun;109(4):773-5. doi: 10.1046/j.1365-2141.2000.02099.x. PMID: 10929028

Diagnosis

Acquired and germline predisposition to bone marrow failure: Diagnostic features and clinical implications.
Kallen ME, Dulau-Florea A, Wang W, Calvo KR
Semin Hematol 2019 Jan;56(1):69-82. Epub 2018 Jun 23 doi: 10.1053/j.seminhematol.2018.05.016. PMID: 30573048
Neonatal manifestations of inherited bone marrow failure syndromes.
Khincha PP, Savage SA
Semin Fetal Neonatal Med 2016 Feb;21(1):57-65. Epub 2015 Dec 24 doi: 10.1016/j.siny.2015.12.003. PMID: 26724991Free PMC Article
Genetic predisposition syndromes: when should they be considered in the work-up of MDS?
Babushok DV, Bessler M
Best Pract Res Clin Haematol 2015 Mar;28(1):55-68. Epub 2014 Nov 12 doi: 10.1016/j.beha.2014.11.004. PMID: 25659730Free PMC Article
Inherited thrombocytopenias: an approach to diagnosis and management.
Geddis AE
Int J Lab Hematol 2013 Feb;35(1):14-25. Epub 2012 Jul 30 doi: 10.1111/j.1751-553X.2012.01454.x. PMID: 22846067
Advances in the understanding of congenital amegakaryocytic thrombocytopenia.
Ballmaier M, Germeshausen M
Br J Haematol 2009 Jun;146(1):3-16. Epub 2009 Apr 21 doi: 10.1111/j.1365-2141.2009.07706.x. PMID: 19388932

Therapy

Outcomes in Hematopoietic Stem Cell Transplantation for Congenital Amegakaryocytic Thrombocytopenia.
Cancio M, Hebert K, Kim S, Aljurf M, Olson T, Anderson E, Burroughs L, Vatsayan A, Myers K, Hashem H, Hanna R, Horn B, Prestidge T, Boelens JJ, Boulad F, Eapen M
Transplant Cell Ther 2022 Feb;28(2):101.e1-101.e6. Epub 2021 Oct 17 doi: 10.1016/j.jtct.2021.10.009. PMID: 34670170Free PMC Article
Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim.
Pecci A, Ragab I, Bozzi V, De Rocco D, Barozzi S, Giangregorio T, Ali H, Melazzini F, Sallam M, Alfano C, Pastore A, Balduini CL, Savoia A
EMBO Mol Med 2018 Jan;10(1):63-75. doi: 10.15252/emmm.201708168. PMID: 29191945Free PMC Article
Genetic predisposition syndromes: when should they be considered in the work-up of MDS?
Babushok DV, Bessler M
Best Pract Res Clin Haematol 2015 Mar;28(1):55-68. Epub 2014 Nov 12 doi: 10.1016/j.beha.2014.11.004. PMID: 25659730Free PMC Article
Reduced intensity transplantation for congenital amegakaryocytic thrombocytopenia: report of a case and review of the literature.
Woods G, Bajwa RP, Rose MJ
Pediatr Transplant 2014 Feb;18(1):E31-4. Epub 2013 Oct 14 doi: 10.1111/petr.12175. PMID: 24119002
A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population.
Jalas C, Anderson SL, Laufer T, Martimucci K, Bulanov A, Xie X, Ekstein J, Rubin BY
Blood Cells Mol Dis 2011 Jun 15;47(1):79-83. Epub 2011 Apr 13 doi: 10.1016/j.bcmd.2011.03.006. PMID: 21489838

Prognosis

Genomic and computational analysis of four novel variants of MPL gene in Congenital Amegakaryocytic Thrombocytopenia.
Shah A, Kumar C, Shanmukhaiah C, Rajendran A, Mudaliar S, Idicula-Thomas S, Vundinti BR
Ann Hematol 2023 Oct;102(10):2683-2693. Epub 2023 Jul 13 doi: 10.1007/s00277-023-05347-7. PMID: 37438490
CAMT-MPL: congenital amegakaryocytic thrombocytopenia caused by MPL mutations - heterogeneity of a monogenic disorder - a comprehensive analysis of 56 patients.
Germeshausen M, Ballmaier M
Haematologica 2021 Sep 1;106(9):2439-2448. doi: 10.3324/haematol.2020.257972. PMID: 32703794Free PMC Article
Case Report: Clinical Variation in Children With Thrombopoietin Receptor (C-MPL) Mutations: Report of 2 Cases.
Lo C, Alvarez E, Ohgami RS, Jeng M
J Pediatr Hematol Oncol 2018 Jan;40(1):67-70. doi: 10.1097/MPH.0000000000000944. PMID: 28859041
MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease.
Germeshausen M, Ballmaier M, Welte K
Hum Mutat 2006 Mar;27(3):296. doi: 10.1002/humu.9415. PMID: 16470591
Haematopoietic stem cell transplantation for amegakaryocytic thrombocytopenia.
Lackner A, Basu O, Bierings M, Lassay L, Schaefer UW, Révész T, Havers W, Kremens B
Br J Haematol 2000 Jun;109(4):773-5. doi: 10.1046/j.1365-2141.2000.02099.x. PMID: 10929028

Clinical prediction guides

Genomic and computational analysis of four novel variants of MPL gene in Congenital Amegakaryocytic Thrombocytopenia.
Shah A, Kumar C, Shanmukhaiah C, Rajendran A, Mudaliar S, Idicula-Thomas S, Vundinti BR
Ann Hematol 2023 Oct;102(10):2683-2693. Epub 2023 Jul 13 doi: 10.1007/s00277-023-05347-7. PMID: 37438490
Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim.
Pecci A, Ragab I, Bozzi V, De Rocco D, Barozzi S, Giangregorio T, Ali H, Melazzini F, Sallam M, Alfano C, Pastore A, Balduini CL, Savoia A
EMBO Mol Med 2018 Jan;10(1):63-75. doi: 10.15252/emmm.201708168. PMID: 29191945Free PMC Article
Thrombopoietin induces hematopoiesis from mouse ES cells via HIF-1α-dependent activation of a BMP4 autoregulatory loop.
Pramono A, Zahabi A, Morishima T, Lan D, Welte K, Skokowa J
Ann N Y Acad Sci 2016 Jul;1375(1):38-51. doi: 10.1111/nyas.13138. PMID: 27447537
Congenital amegakaryocytic thrombocytopenia-3 novel c-MPL mutations and their phenotypic correlations.
Steinberg O, Gilad G, Dgany O, Krasnov T, Zoldan M, Laor R, Kapelushnik J, Gabriel H, Churi C, Stein J, Yaniv I, Tamary H
J Pediatr Hematol Oncol 2007 Dec;29(12):822-5. doi: 10.1097/MPH.0b013e318158152e. PMID: 18090929
MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease.
Germeshausen M, Ballmaier M, Welte K
Hum Mutat 2006 Mar;27(3):296. doi: 10.1002/humu.9415. PMID: 16470591

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