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Congenital amegakaryocytic thrombocytopenia

MedGen UID:
272171
•Concept ID:
C1327915
•
Congenital Abnormality
Synonym: Amegakaryocytic Thrombocytopenia, Congenital
SNOMED CT: Congenital amegakaryocytic thrombocytopenia (716336002)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Related genes: THPO, MPL
 
Monarch Initiative: MONDO:0800451
OMIM® Phenotypic series: PS604498
Orphanet: ORPHA3319

Definition

A rare inherited bone marrow failure syndrome with manifestation of an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood. The exact prevalence is unknown and less than 100 cases have been reported in the literature. The inheritance pattern is autosomal recessive. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Congenital amegakaryocytic thrombocytopenia in Orphanet.

Professional guidelines

PubMed

T-cell-depleted hematopoietic SCT from unrelated donors for the treatment of congenital amegakaryocytic thrombocytopenia.
Tarek N, Kernan NA, Prockop SE, Scaradavou A, Small TN, O'Reilly RJ, Boulad F
Bone Marrow Transplant 2012 May;47(5):744-6. Epub 2011 Jul 25 doi: 10.1038/bmt.2011.142. PMID: 21785471
Congenital amegakaryocytic thrombocytopenia: clinical presentation, diagnosis, and treatment.
Ballmaier M, Germeshausen M
Semin Thromb Hemost 2011 Sep;37(6):673-81. Epub 2011 Nov 18 doi: 10.1055/s-0031-1291377. PMID: 22102270

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
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
The pathology of bone marrow failure.
Leguit RJ, van den Tweel JG
Histopathology 2010 Nov;57(5):655-70. Epub 2010 Aug 19 doi: 10.1111/j.1365-2559.2010.03612.x. PMID: 20727024

Diagnosis

Congenital amegakaryocytic thrombocytopenia - Not a single disease.
Germeshausen M, Ballmaier M
Best Pract Res Clin Haematol 2021 Jun;34(2):101286. Epub 2021 Jul 14 doi: 10.1016/j.beha.2021.101286. PMID: 34404532
Congenital amegakaryocytic thrombocytopenia: clinical presentation, diagnosis, and treatment.
Ballmaier M, Germeshausen M
Semin Thromb Hemost 2011 Sep;37(6):673-81. Epub 2011 Nov 18 doi: 10.1055/s-0031-1291377. PMID: 22102270
Congenital amegakaryocytic thrombocytopenia.
Geddis AE
Pediatr Blood Cancer 2011 Aug;57(2):199-203. Epub 2011 Feb 18 doi: 10.1002/pbc.22927. PMID: 21337678
Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii.
Geddis AE
Hematol Oncol Clin North Am 2009 Apr;23(2):321-31. doi: 10.1016/j.hoc.2009.01.012. PMID: 19327586Free PMC Article
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

Update on the Use of Thrombopoietin-Receptor Agonists in Pediatrics.
Gebetsberger J, Streif W, Dame C
Hamostaseologie 2024 Aug;44(4):316-325. Epub 2024 Jun 26 doi: 10.1055/a-2247-4209. PMID: 38925157
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

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
Establishment of a congenital amegakaryocytic thrombocytopenia model and a thrombocyte-specific reporter line in zebrafish.
Lin Q, Zhang Y, Zhou R, Zheng Y, Zhao L, Huang M, Zhang X, Leung AYH, Zhang W, Zhang Y
Leukemia 2017 May;31(5):1206-1216. Epub 2016 Nov 4 doi: 10.1038/leu.2016.320. PMID: 27811851
Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii.
Geddis AE
Hematol Oncol Clin North Am 2009 Apr;23(2):321-31. doi: 10.1016/j.hoc.2009.01.012. PMID: 19327586Free PMC Article
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

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
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
Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations.
Savoia A, Dufour C, Locatelli F, Noris P, Ambaglio C, Rosti V, Zecca M, Ferrari S, di Bari F, Corcione A, Di Stazio M, Seri M, Balduini CL
Haematologica 2007 Sep;92(9):1186-93. Epub 2007 Aug 1 doi: 10.3324/haematol.11425. PMID: 17666371
Congenital amegakaryocytic thrombocytopenia: a retrospective clinical analysis of 20 patients.
King S, Germeshausen M, Strauss G, Welte K, Ballmaier M
Br J Haematol 2005 Dec;131(5):636-44. doi: 10.1111/j.1365-2141.2005.05819.x. PMID: 16351641

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