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Platelet-type bleeding disorder 18(BDPLT18)

MedGen UID:
863021
•Concept ID:
C4014584
•
Disease or Syndrome
Synonym: BDPLT18
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Gene (location): RASGRP2 (11q13.1)
 
Monarch Initiative: MONDO:0014386
OMIM®: 615888
Orphanet: ORPHA420566

Definition

Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported. [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
Prolonged bleeding time
MedGen UID:
56231
•Concept ID:
C0151529
•
Finding
Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding.
See: Feature record | Search on this feature
Prolonged bleeding after dental extraction
MedGen UID:
369536
•Concept ID:
C1969572
•
Pathologic Function
Prolonged bleeding post dental extraction sufficient to require medical intervention.
See: Feature record | Search on this feature
Impaired epinephrine-induced platelet aggregation
MedGen UID:
870285
•Concept ID:
C4024727
•
Finding
Abnormal response to epinephrine as manifested by reduced or lacking aggregation of platelets upon addition of epinephrine.
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
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 18

Professional guidelines

PubMed

Guidance on the diagnosis and management of platelet-type von Willebrand disease: A communication from the Platelet Physiology Subcommittee of the ISTH.
Othman M, Gresele P
J Thromb Haemost 2020 Aug;18(8):1855-1858. doi: 10.1111/jth.14827. PMID: 32279414

Recent clinical studies

Etiology

Genetic Confirmation and Identification of Novel Variants for Glanzmann Thrombasthenia and Other Inherited Platelet Function Disorders: A Study by the Korean Pediatric Hematology Oncology Group (KPHOG).
Yang EJ, Shim YJ, Kim HS, Lim YT, Im HJ, Koh KN, Kim H, Suh JK, Park ES, Lee NH, Choi YB, Hah JO, Lee JM, Han JW, Lee JH, Lee YH, Jung HL, Ha JS, Ki CS, On Behalf Of The Benign Hematology Committee Of The Korean Pediatric Hematology Oncology Group Kphog
Genes (Basel) 2021 May 6;12(5) doi: 10.3390/genes12050693. PMID: 34066320Free PMC Article

Diagnosis

A splice mutation in RASGRP2 gene in the patient with recurrent epistaxis and nasal vascular malformation.
Shi ZY, Lei QL, Duan SQ, Zhou Y, Cui TT, Lin YB, Yang CH, Song CY, Fang CL, Tian X, Zhang XW, Huang TL
Platelets 2024 Dec;35(1):2425664. Epub 2024 Nov 8 doi: 10.1080/09537104.2024.2425664. PMID: 39512176
Genetic Confirmation and Identification of Novel Variants for Glanzmann Thrombasthenia and Other Inherited Platelet Function Disorders: A Study by the Korean Pediatric Hematology Oncology Group (KPHOG).
Yang EJ, Shim YJ, Kim HS, Lim YT, Im HJ, Koh KN, Kim H, Suh JK, Park ES, Lee NH, Choi YB, Hah JO, Lee JM, Han JW, Lee JH, Lee YH, Jung HL, Ha JS, Ki CS, On Behalf Of The Benign Hematology Committee Of The Korean Pediatric Hematology Oncology Group Kphog
Genes (Basel) 2021 May 6;12(5) doi: 10.3390/genes12050693. PMID: 34066320Free PMC Article
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
RasGRP2 Structure, Function and Genetic Variants in Platelet Pathophysiology.
Canault M, Alessi MC
Int J Mol Sci 2020 Feb 6;21(3) doi: 10.3390/ijms21031075. PMID: 32041177Free PMC Article
RASGRP2 gene variations associated with platelet dysfunction and bleeding.
Palma-Barqueros V, Ruiz-Pividal J, Bohdan N, Vicente V, Bastida JM, Lozano M, Rivera J
Platelets 2019;30(4):535-539. Epub 2019 Mar 8 doi: 10.1080/09537104.2019.1585528. PMID: 30849270

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

Supplemental Content

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    Clinical resources

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    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
    • 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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