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Platelet anisocytosis

MedGen UID:
810926
Concept ID:
C1739105
Pathologic Function
HPO: HP:0032438

Definition

Abnormally increased variability in the size of platelets. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPlatelet anisocytosis

Conditions with this feature

Platelet-type bleeding disorder 15
MedGen UID:
767577
Concept ID:
C3554663
Disease or Syndrome
Platelet-type bleeding disorder-15 is an autosomal dominant form of macrothrombocytopenia. Affected individuals usually have no or only mild bleeding tendency, such as epistaxis. Laboratory studies show decreased numbers of large platelets and anisocytosis, but the platelets show no in vitro functional abnormalities (summary by Kunishima et al., 2013).
Platelet-type bleeding disorder 16
MedGen UID:
1781222
Concept ID:
C5442010
Disease or Syndrome
Platelet-type bleeding disorder-16 (BDPLT16) is an autosomal dominant form of congenital macrothrombocytopenia associated with platelet anisocytosis. It is a disorder of platelet production. Affected individuals may have no or only mildly increased bleeding tendency. In vitro studies show mild platelet functional abnormalities (summary by Kunishima et al., 2011 and Nurden et al., 2011). Genetic Heterogeneity of Glanzmann Thrombasthenia-like with Macrothromocytopenia See BDPLT24 (619271), caused by mutation in the ITGB3 gene (173470) on chromosome 17q21.32. Together the ITGB2B and ITBG3 genes form an integrin, known as platelet glycoprotein GPIIb/III, that is expressed on platelets.
Bleeding disorder, platelet-type, 24
MedGen UID:
1785711
Concept ID:
C5543280
Disease or Syndrome
Platelet-type bleeding disorder-24 (BDPLT24) is an autosomal dominant form of congenital macrothrombocytopenia associated with platelet anisocytosis. It is a disorder of platelet production. Affected individuals may have no or only mildly increased bleeding tendency. In vitro studies show mild platelet functional abnormalities (summary by Kunishima et al., 2011 and Nurden et al., 2011). For a discussion of genetic heterogeneity of Glanzmann thrombasthenia-like with macrothrombocytopenia, see 187800.

Professional guidelines

PubMed

Matowicka-Karna J, Panasiuk A, Prokopowicz D, Prokopowicz J
Rocz Akad Med Bialymst 1995;40(2):250-9. PMID: 8834607

Recent clinical studies

Etiology

Duygu F, Sari T, Celik H
Infez Med 2018 Dec 1;26(4):341-346. PMID: 30555138
Felle P, McMahon C, Rooney S, Donnelly P, Ni Chonchubhair F
Clin Lab Haematol 2005 Aug;27(4):250-7. doi: 10.1111/j.1365-2257.2005.00693.x. PMID: 16048493

Diagnosis

Duygu F, Sari T, Celik H
Infez Med 2018 Dec 1;26(4):341-346. PMID: 30555138
Felle P, McMahon C, Rooney S, Donnelly P, Ni Chonchubhair F
Clin Lab Haematol 2005 Aug;27(4):250-7. doi: 10.1111/j.1365-2257.2005.00693.x. PMID: 16048493
Hohlfeld P, Forestier F, Vial Y, Tissot JD
Biol Neonate 1997;72(5):279-83. doi: 10.1159/000244494. PMID: 9395838
Matowicka-Karna J, Panasiuk A, Prokopowicz D, Prokopowicz J
Rocz Akad Med Bialymst 1995;40(2):250-9. PMID: 8834607

Therapy

Matowicka-Karna J, Panasiuk A, Prokopowicz D, Prokopowicz J
Rocz Akad Med Bialymst 1995;40(2):250-9. PMID: 8834607

Prognosis

Duygu F, Sari T, Celik H
Infez Med 2018 Dec 1;26(4):341-346. PMID: 30555138
Hohlfeld P, Forestier F, Vial Y, Tissot JD
Biol Neonate 1997;72(5):279-83. doi: 10.1159/000244494. PMID: 9395838

Clinical prediction guides

Duygu F, Sari T, Celik H
Infez Med 2018 Dec 1;26(4):341-346. PMID: 30555138
Felle P, McMahon C, Rooney S, Donnelly P, Ni Chonchubhair F
Clin Lab Haematol 2005 Aug;27(4):250-7. doi: 10.1111/j.1365-2257.2005.00693.x. PMID: 16048493
Fabris F, Cordiano I, Salvan F, Ramon R, Valente M, Luzzatto G, Girolami A
Eur J Haematol 1997 Jan;58(1):40-5. doi: 10.1111/j.1600-0609.1997.tb01408.x. PMID: 9020372
Matowicka-Karna J, Panasiuk A, Prokopowicz D, Prokopowicz J
Rocz Akad Med Bialymst 1995;40(2):250-9. PMID: 8834607

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