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Congenital amegakaryocytic thrombocytopenia(CAMT)

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).
 
Related genes: THPO, MPL
 
Monarch Initiative: MONDO:0800451
OMIM®: 159530; 604498
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]

Clinical features

From HPO
Cerebellar vermis hypoplasia
MedGen UID:
333548
Concept ID:
C1840379
Finding
Underdevelopment of the vermis of cerebellum.
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).
Thrombocytopenia
MedGen UID:
52737
Concept ID:
C0040034
Disease or Syndrome
A reduction in the number of circulating thrombocytes.
Amegakaryocytic thrombocytopenia
MedGen UID:
97985
Concept ID:
C0398639
Disease or Syndrome
Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes.
Megakaryocytopenia
MedGen UID:
346881
Concept ID:
C1858312
Finding
A reduced count of megakaryocytes.

Term Hierarchy

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

Professional guidelines

PubMed

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
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

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
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
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
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
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

Diagnosis

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
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
Geddis AE
Pediatr Blood Cancer 2011 Aug;57(2):199-203. Epub 2011 Feb 18 doi: 10.1002/pbc.22927. PMID: 21337678
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
Geddis AE
Semin Hematol 2006 Jul;43(3):196-203. doi: 10.1053/j.seminhematol.2006.04.003. PMID: 16822462

Therapy

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
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
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
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
Guinan EC, Lee YS, Lopez KD, Kohler S, Oette DH, Bruno E, Kozakewich H, Nathan DG, Hoffman R
Blood 1993 Apr 1;81(7):1691-8. PMID: 8461459

Prognosis

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
Germeshausen M, Ballmaier M
Haematologica 2021 Sep 1;106(9):2439-2448. doi: 10.3324/haematol.2020.257972. PMID: 32703794Free PMC Article
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
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
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

Clinical prediction guides

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
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
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
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
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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