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Platelet-type bleeding disorder 20(BDPLT20)

MedGen UID:
934764
•Concept ID:
C4310797
•
Disease or Syndrome
Synonym: BDPLT20
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Gene (location): SLFN14 (17q12)
 
Monarch Initiative: MONDO:0014830
OMIM®: 616913
Orphanet: ORPHA466806

Definition

A rare isolated constitutional thrombocytopenia characterized by reduced platelet count and defective platelet ATP secretion, resulting in increased bleeding tendency. Clinical manifestations are easy bruising, gum bleeding, menorrhagia, spontaneous epistaxis, spontaneous muscle hematoma, and potential postpartum hemorrhage, among others. [from ORDO]

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
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
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
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 20

Recent clinical studies

Etiology

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

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
Acquired von Willebrand syndrome with a type 2B phenotype: diagnostic and therapeutic dilemmas.
Scepansky E, Othman M, Smith H
Acta Haematol 2014;131(4):213-7. Epub 2013 Nov 28 doi: 10.1159/000353525. PMID: 24296552
Platelet-type von Willebrand's disease: characterization of a new bleeding disorder.
Miller JL, Castella A
Blood 1982 Sep;60(3):790-4. PMID: 6286015

Therapy

Acquired von Willebrand syndrome with a type 2B phenotype: diagnostic and therapeutic dilemmas.
Scepansky E, Othman M, Smith H
Acta Haematol 2014;131(4):213-7. Epub 2013 Nov 28 doi: 10.1159/000353525. PMID: 24296552
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

Clinical prediction guides

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
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
von Willebrand factor binds to platelets and induces aggregation in platelet-type but not type IIB von Willebrand disease.
Miller JL, Kupinski JM, Castella A, Ruggeri ZM
J Clin Invest 1983 Nov;72(5):1532-42. doi: 10.1172/JCI111112. PMID: 6415113Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen

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