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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).
 
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.
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.
Persistent bleeding after trauma
MedGen UID:
375403
Concept ID:
C1844374
Finding
Prolonged bleeding after surgery
MedGen UID:
867284
Concept ID:
C4021646
Pathologic Function
Bleeding that persists longer than the normal time following a surgical procedure.
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.
Ecchymosis
MedGen UID:
8524
Concept ID:
C0013491
Finding
A purpuric lesion that is larger than 1 cm in diameter.
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.

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

Recent clinical studies

Etiology

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

Diagnosis

Othman M, Gresele P
J Thromb Haemost 2020 Aug;18(8):1855-1858. doi: 10.1111/jth.14827. PMID: 32279414
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
Othman M
Semin Thromb Hemost 2007 Nov;33(8):780-6. doi: 10.1055/s-2007-1000368. PMID: 18175283
Nurden AT
J Thromb Haemost 2005 Aug;3(8):1773-82. doi: 10.1111/j.1538-7836.2005.01428.x. PMID: 16102044
Scott JP, Montgomery RR
Am J Clin Pathol 1991 Dec;96(6):723-8. doi: 10.1093/ajcp/96.6.723. PMID: 1746488

Therapy

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
Ruggeri ZM, Lombardi R, Gatti L, Bader R, Valsecchi C, Zimmerman TS
Blood 1982 Dec;60(6):1453-6. PMID: 6982737

Clinical prediction guides

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
Miller JL, Ruggeri ZM, Lyle VA
Blood 1987 Dec;70(6):1804-9. PMID: 3118988

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