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Platelet-type bleeding disorder 11(BDPLT11)

MedGen UID:: 481750
•Concept ID:: C3280120
•: Disease or Syndrome

Synonyms:	BDPLT11; GLYCOPROTEIN VI DEFICIENCY; GP VI DEFICIENCY
SNOMED CT:	Bleeding disorder due to glycoprotein VI deficiency (765977002); Glycoprotein VI deficiency (765977002); Bleeding disorder platelet-type 11 (765977002)
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): Gene(s) directly associated with this condition or phenotype.	GP6 (19q13.42)

Monarch Initiative:	MONDO:0013623
OMIM®:	614201
Orphanet:	ORPHA98885

Definition

Platelet-type bleeding disorder-11 is an autosomal recessive mild to moderate bleeding disorder caused by defective platelet activation and aggregation in response to collagen (summary by Dumont et al., 2009). [from OMIM]

Additional description

From MedlinePlus Genetics
Glycoprotein VI deficiency is a bleeding disorder associated with a decreased ability to form blood clots. Normally, blood clots protect the body after an injury by sealing off damaged blood vessels and preventing further blood loss. Because people with glycoprotein VI deficiency cannot form blood clots normally, they have an increased risk of nosebleeds (epistaxis) and may experience abnormally heavy or prolonged bleeding following minor injury or surgery. In some affected individuals, spontaneous bleeding under the skin causes areas of discoloration (ecchymosis). Women with glycoprotein VI deficiency often have heavy or prolonged menstrual periods (menorrhagia). https://medlineplus.gov/genetics/condition/glycoprotein-vi-deficiency

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

Abnormal platelet count

MedGen UID:: 488925
•Concept ID:: C0580317
•: Finding

Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood.

See: Feature record | Search on this feature

Impaired ristocetin-induced platelet aggregation

MedGen UID:: 868749
•Concept ID:: C4023154
•: Pathologic Function

Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin.

See: Feature record | Search on this feature

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.

See: Feature record | Search on this feature

Ecchymosis

MedGen UID:: 8524
•Concept ID:: C0013491
•: Finding

A purpuric lesion that is larger than 1 cm in diameter.

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

Show all Hide all

Abnormality of blood and blood-forming tissues
Abnormality of the integument
- Bruising susceptibility
- Ecchymosis

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVPlatelet-type bleeding disorder 11

Hemorrhagic disorder due to a qualitative platelet defect
- Bleeding diathesis due to a collagen receptor defect
  - Platelet-type bleeding disorder 11

Follow this link to review classifications for Platelet-type bleeding disorder 11 in Orphanet.

Professional guidelines

PubMed

Recombinant activated factor VII (NovoSeven) treatment of platelet-related bleeding disorders. International Registry on Recombinant Factor VIIa and Congenital Platelet Disorders Group.

Poon MC, d'Oiron R
Blood Coagul Fibrinolysis 2000 Apr;11 Suppl 1:S55-68. PMID: 10850567

See all (1)

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: 34066320 Free PMC Article

Recombinant activated factor VII (NovoSeven) treatment of platelet-related bleeding disorders. International Registry on Recombinant Factor VIIa and Congenital Platelet Disorders Group.

Poon MC, d'Oiron R
Blood Coagul Fibrinolysis 2000 Apr;11 Suppl 1:S55-68. PMID: 10850567

See all (2)

Diagnosis

Genetics of familial forms of thrombocytopenia.

Balduini CL, Savoia A
Hum Genet 2012 Dec;131(12):1821-32. Epub 2012 Aug 11 doi: 10.1007/s00439-012-1215-x. PMID: 22886561

Identification and functional characterization of a novel 27-bp deletion in the macroglycopeptide-coding region of the GPIBA gene resulting in platelet-type von Willebrand disease.

Othman M, Notley C, Lavender FL, White H, Byrne CD, Lillicrap D, O'Shaughnessy DF
Blood 2005 Jun 1;105(11):4330-6. Epub 2005 Feb 10 doi: 10.1182/blood-2002-09-2942. PMID: 15705799

Alterations in the intrinsic properties of the GPIbalpha-VWF tether bond define the kinetics of the platelet-type von Willebrand disease mutation, Gly233Val.

Doggett TA, Girdhar G, Lawshe A, Miller JL, Laurenzi IJ, Diamond SL, Diacovo TG
Blood 2003 Jul 1;102(1):152-60. Epub 2003 Mar 13 doi: 10.1182/blood-2003-01-0072. PMID: 12637314

See all (4)

Therapy

Recombinant activated factor VII (NovoSeven) treatment of platelet-related bleeding disorders. International Registry on Recombinant Factor VIIa and Congenital Platelet Disorders Group.

Poon MC, d'Oiron R
Blood Coagul Fibrinolysis 2000 Apr;11 Suppl 1:S55-68. PMID: 10850567

See all (1)

Clinical prediction guides

Comprehensive functional characterization of a novel ANO6 variant in a new patient with Scott syndrome.

Montague SJ, Price J, Pennycott K, Pavey NJ, Martin EM, Thirlwell I, Kemble S, Monteiro C, Redmond-Motteram L, Lawson N, Reynolds K, Fratter C, Bignell P, Groenheide A, Huskens D, de Laat B, Pike JA, Poulter NS, Thomas SG, Lowe GC, Lancashire J, Harrison P, Morgan NV
J Thromb Haemost 2024 Aug;22(8):2281-2293. Epub 2024 Mar 15 doi: 10.1016/j.jtha.2024.02.021. PMID: 38492852

Alterations in the intrinsic properties of the GPIbalpha-VWF tether bond define the kinetics of the platelet-type von Willebrand disease mutation, Gly233Val.

Doggett TA, Girdhar G, Lawshe A, Miller JL, Laurenzi IJ, Diamond SL, Diacovo TG
Blood 2003 Jul 1;102(1):152-60. Epub 2003 Mar 13 doi: 10.1182/blood-2003-01-0072. PMID: 12637314

See all (2)

MedGen

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Links from Gene

Platelet-type bleeding disorder 11(BDPLT11)

Definition

Additional description

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

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