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Platelet-type bleeding disorder 12(BDPLT12)

MedGen UID:
414043
•Concept ID:
C2751535
•
Disease or Syndrome
Synonyms: COX1 DEFICIENCY; CYCLOOXYGENASE 1 DEFICIENCY; PGHS1 DEFICIENCY; PLATELET COX1 DEFICIENCY; PLATELET CYCLOOXYGENASE 1 DEFICIENCY; PLATELET CYCLOOXYGENASE DEFICIENCY; PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE 1 DEFICIENCY, PLATELET; Prostaglandin-endoperoxide synthase deficiency; PTGS DEFICIENCY
 
Monarch Initiative: MONDO:0011588
OMIM®: 605735

Definition

Platelet prostaglandin-endoperoxidase synthase-1 deficiency is a hematologic disorder characterized by mildly increased bleeding due to a platelet defect. The PTGS1 gene (176805) encodes prostaglandin-endoperoxidase synthase-1, also known as COX1 or PGHS1, which catalyzes the formation of prostaglandin G2 (PGG2) and prostaglandin H2 from arachidonic acid, and the downstream formation of thromboxane A2 (TXA2) and prostacyclin. Thromboxane A2 is important for platelet aggregation (summary by Matijevic-Aleksic et al., 1996). [from OMIM]

Clinical features

From HPO
Joint hemorrhage
MedGen UID:
5479
•Concept ID:
C0018924
•
Pathologic Function
Hemorrhage occurring within a joint.
See: Feature record | Search on this feature
Intestinal bleeding
MedGen UID:
75632
•Concept ID:
C0267373
•
Finding
Bleeding from the intestines.
See: Feature record | Search on this feature
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
Menorrhagia
MedGen UID:
44358
•Concept ID:
C0025323
•
Pathologic Function
Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.
See: Feature record | Search on this feature
Impaired platelet aggregation
MedGen UID:
383786
•Concept ID:
C1855853
•
Finding
An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent.
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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.
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Professional guidelines

PubMed

Congenital platelet disorders: overview of their mechanisms, diagnostic evaluation and treatment.
Hayward CP, Rao AK, Cattaneo M
Haemophilia 2006 Jul;12 Suppl 3:128-36. doi: 10.1111/j.1365-2516.2006.01270.x. PMID: 16684008

Recent clinical studies

Therapy

Platelet-mimicry of cancer cells: epiphenomenon with clinical significance.
Tímár J, Tóvári J, Rásó E, Mészáros L, Bereczky B, Lapis K
Oncology 2005;69(3):185-201. Epub 2005 Sep 1 doi: 10.1159/000088069. PMID: 16138000
In vivo interaction of von Willebrand factor with platelets following cryoprecipitate transfusion in platelet-type von Willebrand's disease.
Miller JL, Boselli BD, Kupinski JM
Blood 1984 Jan;63(1):226-30. PMID: 6418233

Prognosis

A novel missense variant in the RASGRP2 gene in patients with moderate to severe bleeding disorder.
Alharby E, Bakhsh MA, Albalawi AM, Almutairi SO, Hashmi JA, Basit S
Platelets 2020 Jul 3;31(5):646-651. Epub 2019 Sep 5 doi: 10.1080/09537104.2019.1663803. PMID: 32609603

Clinical prediction guides

A novel missense variant in the RASGRP2 gene in patients with moderate to severe bleeding disorder.
Alharby E, Bakhsh MA, Albalawi AM, Almutairi SO, Hashmi JA, Basit S
Platelets 2020 Jul 3;31(5):646-651. Epub 2019 Sep 5 doi: 10.1080/09537104.2019.1663803. PMID: 32609603
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
Expression and functional characterization of an abnormal platelet membrane glycoprotein Ib alpha (Met239 --> Val) reported in patients with platelet-type von Willebrand disease.
Moriki T, Murata M, Kitaguchi T, Anbo H, Handa M, Watanabe K, Takahashi H, Ikeda Y
Blood 1997 Jul 15;90(2):698-705. PMID: 9226170
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

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