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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
Impaired platelet aggregation
MedGen UID:
383786
Concept ID:
C1855853
Finding
An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent.
Excessive bleeding from superficial cuts
MedGen UID:
868218
Concept ID:
C4022610
Pathologic Function
An abnormally increased degree of bleeding following a superfical injury to the surface of the skin.
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

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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