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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
Allogeneic hematopoietic stem cell transplantation for inherited bone marrow failure syndromes.
Dalle JH, Peffault de Latour R
Int J Hematol 2016 Apr;103(4):373-9. Epub 2016 Feb 12 doi: 10.1007/s12185-016-1951-0. PMID: 26872907
Durable engraftment and correction of hematological abnormalities in children with congenital amegakaryocytic thrombocytopenia following myeloablative umbilical cord blood transplantation.
Mahadeo KM, Tewari P, Parikh SH, Driscoll TA, Page K, Martin PL, Kurtzberg J, Prasad VK
Pediatr Transplant 2015 Nov;19(7):753-7. Epub 2015 Sep 14 doi: 10.1111/petr.12577. PMID: 26369627
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

Diagnosis

Congenital amegakaryocytic thrombocytopenia presenting with a new thrombopoietin receptor (MPL) pathogenic variant: An instructive neonatal case.
Vanholder IM, Ecury-Goossen GM, Admiraal J, Porcelijn L, van Spaendonk RM, Gouw SC
J Paediatr Child Health 2022 Dec;58(12):2319-2321. Epub 2022 Aug 16 doi: 10.1111/jpc.16168. PMID: 35972311
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 Type II Presenting with Multiple Central Nervous System Anomalies.
Eshuis-Peters E, Versluys AB, Stokman MF, van der Crabben SN, Nij Bijvank SW, van Wezel-Meijler G
Neuropediatrics 2016 Apr;47(2):128-31. Epub 2016 Feb 8 doi: 10.1055/s-0036-1571800. PMID: 26854587
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
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

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
Durable engraftment and correction of hematological abnormalities in children with congenital amegakaryocytic thrombocytopenia following myeloablative umbilical cord blood transplantation.
Mahadeo KM, Tewari P, Parikh SH, Driscoll TA, Page K, Martin PL, Kurtzberg J, Prasad VK
Pediatr Transplant 2015 Nov;19(7):753-7. Epub 2015 Sep 14 doi: 10.1111/petr.12577. PMID: 26369627
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
Unrelated bone marrow transplant for congenital amegakaryocytic thrombocytopenia: report of two cases and review of the literature.
Frangoul H, Keates-Baleeiro J, Calder C, Manes B, Crossno C, Castaneda VL, Domm J
Pediatr Transplant 2010 Jun;14(4):E42-5. Epub 2009 Mar 10 doi: 10.1111/j.1399-3046.2009.01131.x. PMID: 19490489

Prognosis

Durable engraftment and correction of hematological abnormalities in children with congenital amegakaryocytic thrombocytopenia following myeloablative umbilical cord blood transplantation.
Mahadeo KM, Tewari P, Parikh SH, Driscoll TA, Page K, Martin PL, Kurtzberg J, Prasad VK
Pediatr Transplant 2015 Nov;19(7):753-7. Epub 2015 Sep 14 doi: 10.1111/petr.12577. PMID: 26369627
Congenital amegakaryocytic thrombocytopenia with multiple physical anomalies in a female neonate.
Saqlain N, Ahmed N, Qamar U
J Coll Physicians Surg Pak 2014 Nov;24 Suppl 3:S253-5. PMID: 25518793
Unrelated bone marrow transplant for congenital amegakaryocytic thrombocytopenia: report of two cases and review of the literature.
Frangoul H, Keates-Baleeiro J, Calder C, Manes B, Crossno C, Castaneda VL, Domm J
Pediatr Transplant 2010 Jun;14(4):E42-5. Epub 2009 Mar 10 doi: 10.1111/j.1399-3046.2009.01131.x. PMID: 19490489
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
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

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: 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
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
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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