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Platelet-type bleeding disorder 15(BDPLT15)

MedGen UID:
767577
•Concept ID:
C3554663
•
Disease or Syndrome
Synonyms: BDPLT15; MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, ACTN1-RELATED
 
Gene (location): ACTN1 (14q24.1)
 
Monarch Initiative: MONDO:0014078
OMIM®: 615193

Definition

Platelet-type bleeding disorder-15 is an autosomal dominant form of macrothrombocytopenia. Affected individuals usually have no or only mild bleeding tendency, such as epistaxis. Laboratory studies show decreased numbers of large platelets and anisocytosis, but the platelets show no in vitro functional abnormalities (summary by Kunishima et al., 2013). [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
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
Increased mean platelet volume
MedGen UID:
853131
•Concept ID:
C1096367
•
Finding
Average platelet volume above the upper limit of the normal reference interval.
See: Feature record | Search on this feature
Platelet anisocytosis
MedGen UID:
810926
•Concept ID:
C1739105
•
Pathologic Function
Abnormally increased variability in the size of platelets.
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
Impaired clot retraction
MedGen UID:
1376447
•Concept ID:
C4476985
•
Finding
Platelets contain contractile proteins (actin and myosin) that induce clot retraction. As the platelets contract, they pull on the surrounding fibrin strands, squeezing serum form the mass, compacting the clot and drawing the ruptured edges of the blood vessel more closely together. Clot retraction is directly proportional to the platelet count and inversely proportional to the fibrinogen concentration.
See: Feature record | Search on this feature

Recent clinical studies

Diagnosis

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
Platelet-type von Willebrand Disease: Diagnostic Challenges. Flaws and Pitfalls Experienced in the THROMKID Quality Project.
Maurer M, Mesters R, Schneppenheim R, Knoefler R, Streif W
Klin Padiatr 2015 May;227(3):131-6. Epub 2015 May 18 doi: 10.1055/s-0035-1548838. PMID: 25985448
Platelet-type von Willebrand disease: a rare, often misdiagnosed and underdiagnosed bleeding disorder.
Othman M
Semin Thromb Hemost 2011 Jul;37(5):464-9. Epub 2011 Nov 18 doi: 10.1055/s-0031-1281030. PMID: 22102188
Frequency of platelet type versus type 2B von Willebrand disease. An international registry-based study.
Hamilton A, Ozelo M, Leggo J, Notley C, Brown H, Frontroth JP, Angelillo-Scherrer A, Baghaei F, Enayat SM, Favaloro E, Lillicrap D, Othman M
Thromb Haemost 2011 Mar;105(3):501-8. Epub 2011 Feb 8 doi: 10.1160/TH10-08-0523. PMID: 21301777
Visualization of von Willebrand factor multimers by immunoenzymatic stain using avidin-biotin peroxidase complex.
Aihara M, Sawada Y, Ueno K, Morimoto S, Yoshida Y, de Serres M, Cooper HA, Wagner RH
Thromb Haemost 1986 Apr 30;55(2):263-7. PMID: 3087003

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
Visualization of von Willebrand factor multimers by immunoenzymatic stain using avidin-biotin peroxidase complex.
Aihara M, Sawada Y, Ueno K, Morimoto S, Yoshida Y, de Serres M, Cooper HA, Wagner RH
Thromb Haemost 1986 Apr 30;55(2):263-7. PMID: 3087003

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
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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