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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): 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.
Thrombocytopenia
MedGen UID:
52737
Concept ID:
C0040034
Disease or Syndrome
A reduction in the number of circulating thrombocytes.
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.
Bleeding with minor or no trauma
MedGen UID:
868738
Concept ID:
C4023143
Finding
Significant bleeding or hemorrhage without significant precipitating factor.
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.
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.
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.
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.
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).

Recent clinical studies

Diagnosis

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

Clinical prediction guides

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
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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