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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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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).
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Von Willebrand disease: local diagnosis and management of a globally distributed bleeding disorder.
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

Genetic Confirmation and Identification of Novel Variants for Glanzmann Thrombasthenia and Other Inherited Platelet Function Disorders: A Study by the Korean Pediatric Hematology Oncology Group (KPHOG).
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
Low shear stress can initiate von Willebrand factor-dependent platelet aggregation in patients with type IIB and platelet-type von Willebrand disease.
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

Genetic Confirmation and Identification of Novel Variants for Glanzmann Thrombasthenia and Other Inherited Platelet Function Disorders: A Study by the Korean Pediatric Hematology Oncology Group (KPHOG).
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
Ristocetin-Induced Platelet Aggregation (RIPA) and RIPA Mixing Studies.
Frontroth JP, Favaloro EJ
Methods Mol Biol 2017;1646:473-494. doi: 10.1007/978-1-4939-7196-1_35. PMID: 28804849
Von Willebrand disease: local diagnosis and management of a globally distributed bleeding disorder.
Favaloro EJ
Semin Thromb Hemost 2011 Jul;37(5):440-55. Epub 2011 Nov 18 doi: 10.1055/s-0031-1281028. PMID: 22102186
Frequency of platelet type versus type 2B von Willebrand disease. An international registry-based study.
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
Genetic abnormalities of Bernard-Soulier syndrome.
Kunishima S, Kamiya T, Saito H
Int J Hematol 2002 Nov;76(4):319-27. doi: 10.1007/BF02982690. PMID: 12463594

Therapy

Von Willebrand disease: local diagnosis and management of a globally distributed bleeding disorder.
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

A novel platelet-type von Willebrand disease mutation (GP1BA p.Met255Ile) associated with type 2B "Malmö/New York" von Willebrand disease.
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
Identification of a novel point mutation in platelet glycoprotein Ibalpha, Gly to Ser at residue 233, in a Japanese family with platelet-type von Willebrand disease.
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
Low shear stress can initiate von Willebrand factor-dependent platelet aggregation in patients with type IIB and platelet-type von Willebrand disease.
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
Unique interactions of asialo von Willebrand factor with platelets in platelet-type von Willebrand disease.
Miller JL, Ruggeri ZM, Lyle VA
Blood 1987 Dec;70(6):1804-9. PMID: 3118988

Supplemental Content

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    Clinical resources

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
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      Related literature resources in PubMed

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