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Bleeding disorder, platelet-type, 22(BDPLT22)

MedGen UID:: 1673822
•Concept ID:: C5193111
•: Disease or Syndrome

Synonyms:	BDPLT22; BLEEDING DISORDER, PLATELET-TYPE, 22

Gene (location): Gene(s) directly associated with this condition or phenotype.	EPHB2 (1p36.12)

Monarch Initiative:	MONDO:0032765
OMIM®:	618462

Definition

Platelet-type bleeding disorder-22 (BDPLT22) is an autosomal recessive bleeding disorder resulting from impaired platelet aggregation due to intracellular signaling defects. Patients present in the first decade with spontaneous subcutaneous bleeding and excessive bleeding after minor injuries. Platelet counts are usually normal, although platelets show abnormal morphology (summary by Berrou et al., 2018). [from OMIM]

Clinical features

From HPO

Gastrointestinal hemorrhage

MedGen UID:: 8971
•Concept ID:: C0017181
•: Pathologic Function

Hemorrhage affecting the gastrointestinal tract.

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Thrombocytopenia

MedGen UID:: 52737
•Concept ID:: C0040034
•: Disease or Syndrome

A reduction in the number of circulating thrombocytes.

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Excessive bleeding from superficial cuts

MedGen UID:: 868218
•Concept ID:: C4022610
•: Pathologic Function

An abnormally increased degree of bleeding following a superficial injury to the surface of the skin.

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Bleeding with minor or no trauma

MedGen UID:: 868738
•Concept ID:: C4023143
•: Finding

Significant bleeding or hemorrhage without significant precipitating factor.

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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.

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Impaired arachidonic acid-induced platelet aggregation

MedGen UID:: 868750
•Concept ID:: C4023155
•: Pathologic Function

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

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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.

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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.

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Subcutaneous hemorrhage

MedGen UID:: 451073
•Concept ID:: C0854107
•: Disease or Syndrome

This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses).

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Abnormality of blood and blood-forming tissues
Abnormality of the digestive system
- Gastrointestinal hemorrhage
Abnormality of the integument
- Subcutaneous hemorrhage

Recent clinical studies

Diagnosis

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

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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

Crystal structure of the wild-type von Willebrand factor A1-glycoprotein Ibalpha complex reveals conformation differences with a complex bearing von Willebrand disease mutations.

Dumas JJ, Kumar R, McDonagh T, Sullivan F, Stahl ML, Somers WS, Mosyak L
J Biol Chem 2004 May 28;279(22):23327-34. Epub 2004 Mar 23 doi: 10.1074/jbc.M401659200. PMID: 15039442

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Bleeding disorder, platelet-type, 22(BDPLT22)

Definition

Clinical features

Recent clinical studies

Diagnosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

Consumer resources

Reviews

Related information

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