Display Settings:

Format

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

Amegakaryocytic thrombocytopenia

MedGen UID:
505707
Concept ID:
CN004304
Finding
 
HPO: HP:0004859

Definition

Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGAmegakaryocytic thrombocytopenia

Conditions with this feature

Noonan's syndrome
MedGen UID:
18073
Concept ID:
C0028326
Disease or Syndrome
Noonan syndrome (NS) is characterized by short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, characteristic facies, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one third of affected individuals have mild intellectual disability.
Noonan syndrome 1
MedGen UID:
22527
Concept ID:
C0041409
Disease or Syndrome
Noonan syndrome (NS) is characterized by short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, characteristic facies, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one third of affected individuals have mild intellectual disability.
Multiple pterygium syndrome
MedGen UID:
82696
Concept ID:
C0265261
Congenital Abnormality
A rare syndrome of short stature, abnormal facies and webbing of the neck, antecubital, digital, popliteal, and intercural areas. Joint contractures, vertebral fusion defects, and rocker-bottom feet are usually associated.
Congenital amegakaryocytic thrombocytopenia
MedGen UID:
272171
Concept ID:
C1327915
Disease or Syndrome
Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare disorder expressed in infancy and characterized by isolated thrombocytopenia and megakaryocytopenia with no physical anomalies (Muraoka et al., 1997). King et al. (2005) proposed a new classification of CAMT based on the course and outcome of the disease, as exemplified by 20 patients: CAMT type I (11 patients) was characterized by early onset of severe pancytopenia, decreased bone marrow activity, and very low platelet counts. CAMT type II (9 patients) was somewhat milder and characterized by transient increases of platelet counts up to nearly normal values during the first year of life and an onset of bone marrow failure at age 3 or later.
Female Pseudo-Turner Syndrome
MedGen UID:
315955
Concept ID:
C1527404
Congenital Abnormality

Recent clinical studies

Etiology

Chang H, Tang TC
Acta Haematol 2011;126(3):135-7. Epub 2011 Jun 24 doi: 10.1159/000328031. [Epub ahead of print] PMID: 21701159
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 [Epub ahead of print] 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
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. PMID: 10929028
Lonial S, Bilodeau PA, Langston AA, Lewis C, Mossavi-Sai S, Holden JT, Waller EK
Bone Marrow Transplant 1999 Dec;24(12):1337-41. doi: 10.1038/sj.bmt.1702063. PMID: 10627644

Diagnosis

Stoddart MT, Connor P, Germeshausen M, Ballmaier M, Steward CG
Pediatr Blood Cancer 2013 Sep;60(9):E94-6. Epub 2013 Apr 26 doi: 10.1002/pbc.24566. [Epub ahead of print] PMID: 23625800
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. [Epub ahead of print] PMID: 21337678
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. [Epub ahead of print] PMID: 19388932
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

Therapy

Patel M, Kalra A, Surapaneni R, Schwarting R, Devereux L
Am J Ther 2014 Jan-Feb;21(1):e17-20. doi: 10.1097/MJT.0b013e3182355a85. PMID: 22314209
Chang H, Tang TC
Acta Haematol 2011;126(3):135-7. Epub 2011 Jun 24 doi: 10.1159/000328031. [Epub ahead of print] PMID: 21701159
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. [Epub ahead of print] PMID: 21489838
Lown R, Rhodes E, Bosworth J, Shannon MS, Stasi R
Clin Adv Hematol Oncol 2010 Nov;8(11):809-12. PMID: 21326159
Cela I, Miller IJ, Katz RS, Rizman A, Shammo JM
Clin Adv Hematol Oncol 2010 Nov;8(11):806-9. PMID: 21326158

Prognosis

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. [Epub ahead of print] PMID: 21489838
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. [Epub ahead of print] PMID: 19490489
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
Tijssen MR, di Summa F, van den Oudenrijn S, Zwaginga JJ, van der Schoot CE, Voermans C, de Haas M
Br J Haematol 2008 Jun;141(6):808-13. Epub 2008 Apr 13 doi: 10.1111/j.1365-2141.2008.07139.x. [Epub ahead of print] PMID: 18422784
King JA, Elkhalifa MY, Latour LF
South Med J 1997 Jan;90(1):91-4. PMID: 9003837

Clinical prediction guides

Christensen RD, Wiedmeier SE, Yaish HM
J Perinatol 2013 Mar;33(3):242-4. doi: 10.1038/jp.2012.53. PMID: 23443295
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. [Epub ahead of print] PMID: 21489838
Tijssen MR, di Summa F, van den Oudenrijn S, Zwaginga JJ, van der Schoot CE, Voermans C, de Haas M
Br J Haematol 2008 Jun;141(6):808-13. Epub 2008 Apr 13 doi: 10.1111/j.1365-2141.2008.07139.x. [Epub ahead of print] PMID: 18422784
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
Freedman MH, Estrov Z
Am J Pediatr Hematol Oncol 1990 Summer;12(2):225-30. PMID: 2378417

Recent systematic reviews

Fox NE, Chen R, Hitchcock I, Keates-Baleeiro J, Frangoul H, Geddis AE
Exp Hematol 2009 Apr;37(4):495-503. doi: 10.1016/j.exphem.2009.01.001. PMID: 19302922Free PMC Article
Geddis AE, Kaushansky K
Curr Opin Pediatr 2004 Feb;16(1):15-22. PMID: 14758109

Supplemental Content

Table of contents

    Consumer resources

    Outreach and support

    Clinical Trials

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...