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Platelet-type bleeding disorder 10(BDPLT10)

MedGen UID:
374856
Concept ID:
C1842090
Disease or Syndrome
Synonyms: CD36 DEFICIENCY; Platelet glycoprotein IV deficiency
 
Gene (location): CD36 (7q21.11)
 
Monarch Initiative: MONDO:0012031
OMIM®: 608404

Definition

Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the CD36 gene. [from MONDO]

Clinical features

From HPO
Thrombocytopenia
MedGen UID:
52737
Concept ID:
C0040034
Disease or Syndrome
A reduction in the number of circulating thrombocytes.
Prolonged bleeding time
MedGen UID:
56231
Concept ID:
C0151529
Finding
Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding.
Giant platelets
MedGen UID:
137700
Concept ID:
C0333864
Finding
Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998).
Abnormal bleeding
MedGen UID:
264316
Concept ID:
C1458140
Pathologic Function
An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.

Professional guidelines

PubMed

Favaloro EJ
Semin Thromb Hemost 2011 Jul;37(5):440-55. Epub 2011 Nov 18 doi: 10.1055/s-0031-1281028. PMID: 22102186

Recent clinical studies

Etiology

Yang EJ, Shim YJ, Kim HS, Lim YT, Im HJ, Koh KN, Kim H, Suh JK, Park ES, Lee NH, Choi YB, Hah JO, Lee JM, Han JW, Lee JH, Lee YH, Jung HL, Ha JS, Ki CS, On Behalf Of The Benign Hematology Committee Of The Korean Pediatric Hematology Oncology Group Kphog
Genes (Basel) 2021 May 6;12(5) doi: 10.3390/genes12050693. PMID: 34066320Free PMC Article
Murata M, Fukuyama M, Satoh K, Fujimura Y, Yoshioka A, Takahashi H, Handa M, Kawai Y, Watanabe K, Ikeda Y
J Clin Invest 1993 Sep;92(3):1555-8. doi: 10.1172/JCI116735. PMID: 8376606Free PMC Article

Diagnosis

Frontroth JP, Favaloro EJ
Methods Mol Biol 2017;1646:473-494. doi: 10.1007/978-1-4939-7196-1_35. PMID: 28804849
Favaloro EJ
Semin Thromb Hemost 2011 Jul;37(5):440-55. Epub 2011 Nov 18 doi: 10.1055/s-0031-1281028. PMID: 22102186
Hamilton A, Ozelo M, Leggo J, Notley C, Brown H, Frontroth JP, Angelillo-Scherrer A, Baghaei F, Enayat SM, Favaloro E, Lillicrap D, Othman M
Thromb Haemost 2011 Mar;105(3):501-8. Epub 2011 Feb 8 doi: 10.1160/TH10-08-0523. PMID: 21301777
Kunishima S, Kamiya T, Saito H
Int J Hematol 2002 Nov;76(4):319-27. doi: 10.1007/BF02982690. PMID: 12463594
Dong J, Schade AJ, Romo GM, Andrews RK, Gao S, McIntire LV, López JA
J Biol Chem 2000 Sep 8;275(36):27663-70. doi: 10.1074/jbc.M909952199. PMID: 10837490

Therapy

Favaloro EJ
Semin Thromb Hemost 2011 Jul;37(5):440-55. Epub 2011 Nov 18 doi: 10.1055/s-0031-1281028. PMID: 22102186

Clinical prediction guides

Lavenu-Bombled C, Guitton C, Dupuis A, Baas MJ, Desconclois C, Dreyfus M, Li R, Caron C, Gachet C, Fressinaud E, Lanza F
Thromb Haemost 2016 Nov 30;116(6):1070-1078. Epub 2016 Sep 29 doi: 10.1160/TH16-06-0438. PMID: 27683759
Matsubara Y, Murata M, Sugita K, Ikeda Y
J Thromb Haemost 2003 Oct;1(10):2198-205. doi: 10.1046/j.1538-7836.2003.00369.x. PMID: 14521605
Murata M, Fukuyama M, Satoh K, Fujimura Y, Yoshioka A, Takahashi H, Handa M, Kawai Y, Watanabe K, Ikeda Y
J Clin Invest 1993 Sep;92(3):1555-8. doi: 10.1172/JCI116735. PMID: 8376606Free PMC Article
Miller JL, Ruggeri ZM, Lyle VA
Blood 1987 Dec;70(6):1804-9. PMID: 3118988

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