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Platelet-type bleeding disorder 8(BDPLT8)

MedGen UID:
344008
•Concept ID:
C1853278
•
Disease or Syndrome
Synonyms: BDPLT8; Bleeding disorder due to p2rx1 defect, somatic; BLEEDING DISORDER DUE TO P2RY12 DEFECT
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).
Autosomal recessive inheritance (Orphanet)
 
Gene (location): P2RY12 (3q25.1)
 
Monarch Initiative: MONDO:0012354
OMIM®: 609821
Orphanet: ORPHA36355

Definition

Platelet-type bleeding disorder-8 (BDPLT8) is an autosomal recessive condition characterized by mild to moderate mucocutaneous bleeding and excessive bleeding after surgery or trauma. The defect is due to the inability of ADP to induce platelet aggregation (review by Cattaneo, 2011). [from OMIM]

Clinical features

From HPO
Epistaxis
MedGen UID:
4996
•Concept ID:
C0014591
•
Pathologic Function
Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.
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
Persistent bleeding after trauma
MedGen UID:
375403
•Concept ID:
C1844374
•
Finding
See: Feature record | Search on this feature
Prolonged bleeding after surgery
MedGen UID:
867284
•Concept ID:
C4021646
•
Pathologic Function
Bleeding that persists longer than the normal time following a surgical procedure.
See: Feature record | Search on this feature
Impaired ADP-induced platelet aggregation
MedGen UID:
870824
•Concept ID:
C4025282
•
Finding
Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP.
See: Feature record | Search on this feature
Ecchymosis
MedGen UID:
8524
•Concept ID:
C0013491
•
Finding
A purpuric lesion that is larger than 1 cm in diameter.
See: Feature record | Search on this feature
Bruising susceptibility
MedGen UID:
140849
•Concept ID:
C0423798
•
Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPlatelet-type bleeding disorder 8
Follow this link to review classifications for Platelet-type bleeding disorder 8 in Orphanet.

Professional guidelines

PubMed

Guidance on the diagnosis and management of platelet-type von Willebrand disease: A communication from the Platelet Physiology Subcommittee of the ISTH.
Othman M, Gresele P
J Thromb Haemost 2020 Aug;18(8):1855-1858. doi: 10.1111/jth.14827. PMID: 32279414

Recent clinical studies

Etiology

Qualitative disorders of platelets and megakaryocytes.
Nurden AT
J Thromb Haemost 2005 Aug;3(8):1773-82. doi: 10.1111/j.1538-7836.2005.01428.x. PMID: 16102044

Diagnosis

Guidance on the diagnosis and management of platelet-type von Willebrand disease: A communication from the Platelet Physiology Subcommittee of the ISTH.
Othman M, Gresele P
J Thromb Haemost 2020 Aug;18(8):1855-1858. doi: 10.1111/jth.14827. PMID: 32279414
Systematic analysis of bleeding phenotype in PT-VWD compared to type 2B VWD using an electronic bleeding questionnaire.
Kaur H, Ozelo M, Scovil S, James PD, Othman M
Clin Appl Thromb Hemost 2014 Nov;20(8):765-71. Epub 2014 Jul 25 doi: 10.1177/1076029614543825. PMID: 25063765
Platelet-type von Willebrand disease and type 2B von Willebrand disease: a story of nonidentical twins when two different genetic abnormalities evolve into similar phenotypes.
Othman M
Semin Thromb Hemost 2007 Nov;33(8):780-6. doi: 10.1055/s-2007-1000368. PMID: 18175283
Qualitative disorders of platelets and megakaryocytes.
Nurden AT
J Thromb Haemost 2005 Aug;3(8):1773-82. doi: 10.1111/j.1538-7836.2005.01428.x. PMID: 16102044
The rapid differentiation of type IIb von Willebrand's disease from platelet-type (pseudo-) von Willebrand's disease by the "neutral" monoclonal antibody binding assay.
Scott JP, Montgomery RR
Am J Clin Pathol 1991 Dec;96(6):723-8. doi: 10.1093/ajcp/96.6.723. PMID: 1746488

Therapy

Mimotope/anti-mimotope probing of structural relationships in platelet glycoprotein Ib alpha.
Miller JL, Lyle VA
Proc Natl Acad Sci U S A 1996 Apr 16;93(8):3565-9. doi: 10.1073/pnas.93.8.3565. PMID: 8622976Free PMC Article
Type IIB von Willebrand's disease: differential clearance of endogenous versus transfused large multimer von willebrand factor.
Ruggeri ZM, Lombardi R, Gatti L, Bader R, Valsecchi C, Zimmerman TS
Blood 1982 Dec;60(6):1453-6. PMID: 6982737

Clinical prediction guides

Comprehensive functional characterization of a novel ANO6 variant in a new patient with Scott syndrome.
Montague SJ, Price J, Pennycott K, Pavey NJ, Martin EM, Thirlwell I, Kemble S, Monteiro C, Redmond-Motteram L, Lawson N, Reynolds K, Fratter C, Bignell P, Groenheide A, Huskens D, de Laat B, Pike JA, Poulter NS, Thomas SG, Lowe GC, Lancashire J, Harrison P, Morgan NV
J Thromb Haemost 2024 Aug;22(8):2281-2293. Epub 2024 Mar 15 doi: 10.1016/j.jtha.2024.02.021. PMID: 38492852
Systematic analysis of bleeding phenotype in PT-VWD compared to type 2B VWD using an electronic bleeding questionnaire.
Kaur H, Ozelo M, Scovil S, James PD, Othman M
Clin Appl Thromb Hemost 2014 Nov;20(8):765-71. Epub 2014 Jul 25 doi: 10.1177/1076029614543825. PMID: 25063765
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
    • PubMed (OMIM)
      Related literature resources in PubMed

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