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Platelet-type bleeding disorder 9(BDPLT9)

MedGen UID:
481744
•Concept ID:
C3280114
•
Disease or Syndrome
Synonyms: BDPLT9; COLLAGEN PLATELET RECEPTOR DEFICIENCY; Glycoprotein 1a Deficiency; GLYCOPROTEIN Ia DEFICIENCY; GP Ia DEFICIENCY
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)
 
Monarch Initiative: MONDO:0013622
OMIM®: 614200
Orphanet: ORPHA98886

Definition

Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ITGA2 gene. [from MONDO]

Clinical features

From HPO
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 9
Follow this link to review classifications for Platelet-type bleeding disorder 9 in Orphanet.

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
Spectrum of the mutations in Bernard-Soulier syndrome.
Savoia A, Kunishima S, De Rocco D, Zieger B, Rand ML, Pujol-Moix N, Caliskan U, Tokgoz H, Pecci A, Noris P, Srivastava A, Ward C, Morel-Kopp MC, Alessi MC, Bellucci S, Beurrier P, de Maistre E, Favier R, Hézard N, Hurtaud-Roux MF, Latger-Cannard V, Lavenu-Bombled C, Proulle V, Meunier S, Négrier C, Nurden A, Randrianaivo H, Fabris F, Platokouki H, Rosenberg N, HadjKacem B, Heller PG, Karimi M, Balduini CL, Pastore A, Lanza F
Hum Mutat 2014 Sep;35(9):1033-45. Epub 2014 Jul 15 doi: 10.1002/humu.22607. PMID: 24934643
Platelet-type von Willebrand disease: new insights into the molecular pathophysiology of a unique platelet defect.
Othman M, Kaur H, Emsley J
Semin Thromb Hemost 2013 Sep;39(6):663-73. Epub 2013 Aug 11 doi: 10.1055/s-0033-1353442. PMID: 23934752

Therapy

Replacement therapy in platelet-type von Willebrand disease.
Takahashi H
Am J Hematol 1985 Apr;18(4):351-62. doi: 10.1002/ajh.2830180404. PMID: 3919572

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
Replacement therapy in platelet-type von Willebrand disease.
Takahashi H
Am J Hematol 1985 Apr;18(4):351-62. doi: 10.1002/ajh.2830180404. PMID: 3919572

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM

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