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  • CN372723 has been replaced by C5882683, showing C5882683

Bleeding disorder, platelet-type, 25(BDPLT25)

MedGen UID:
1846290
•Concept ID:
C5882683
•
Disease or Syndrome
Synonym: BDPLT25
 
Gene (location): TPM4 (19p13.12-13.11)
 
Monarch Initiative: MONDO:0957580
OMIM®: 620486

Definition

Platelet-type bleeding disorder-25 (BDPLT25) is an autosomal dominant condition characterized by increased susceptibility to bleeding episodes due to decreased or dysfunctional platelets. Some individuals have decreased numbers of enlarged platelets or macrothrombocytopenia, whereas others have normal numbers of enlarged platelets. Platelet morphologic and functional defects are variable (Pleines et al., 2017; Stapley et al., 2022; Marin-Quilez et al., 2022). For a discussion of genetic heterogeneity of BDPLT, see 231200. [from OMIM]

Clinical features

From HPO
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
Post-partum hemorrhage
MedGen UID:
18592
•Concept ID:
C0032797
•
Pathologic Function
Significant maternal hemorrhage/blood loss following deilvery of a child.
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Thrombocytopenia
MedGen UID:
52737
•Concept ID:
C0040034
•
Disease or Syndrome
A reduction in the number of circulating thrombocytes.
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Increased mean platelet volume
MedGen UID:
853131
•Concept ID:
C1096367
•
Finding
Average platelet volume above the upper limit of the normal reference interval.
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Prolonged bleeding after dental extraction
MedGen UID:
369536
•Concept ID:
C1969572
•
Pathologic Function
Prolonged bleeding post dental extraction sufficient to require medical intervention.
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Macrothrombocytopenia
MedGen UID:
414334
•Concept ID:
C2751260
•
Disease or Syndrome
See: Feature record | Search on this feature
Spontaneous, recurrent epistaxis
MedGen UID:
816045
•Concept ID:
C3809715
•
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.
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Excessive bleeding from superficial cuts
MedGen UID:
868218
•Concept ID:
C4022610
•
Pathologic Function
An abnormally increased degree of bleeding following a superficial injury to the surface of the skin.
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Impaired collagen-induced platelet aggregation
MedGen UID:
870264
•Concept ID:
C4024703
•
Finding
Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics.
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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.
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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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Recent clinical studies

Diagnosis

PT-VWD posing diagnostic and therapeutic challenges - small case series.
Sánchez-Luceros A, Woods AI, Bermejo E, Shukla S, Acharya S, Lavin M, Rydz N, Othman M
Platelets 2017 Jul;28(5):484-490. Epub 2016 Nov 7 doi: 10.1080/09537104.2016.1237625. PMID: 27819553
Platelet-type Von Willebrand disease: three decades in the life of a rare bleeding disorder.
Othman M
Blood Rev 2011 Jul;25(4):147-53. Epub 2011 Apr 15 doi: 10.1016/j.blre.2011.03.003. PMID: 21497427

Therapy

PT-VWD posing diagnostic and therapeutic challenges - small case series.
Sánchez-Luceros A, Woods AI, Bermejo E, Shukla S, Acharya S, Lavin M, Rydz N, Othman M
Platelets 2017 Jul;28(5):484-490. Epub 2016 Nov 7 doi: 10.1080/09537104.2016.1237625. PMID: 27819553

Clinical prediction guides

PT-VWD posing diagnostic and therapeutic challenges - small case series.
Sánchez-Luceros A, Woods AI, Bermejo E, Shukla S, Acharya S, Lavin M, Rydz N, Othman M
Platelets 2017 Jul;28(5):484-490. Epub 2016 Nov 7 doi: 10.1080/09537104.2016.1237625. PMID: 27819553
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

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • 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
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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