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Items: 5

1.

Neonatal alloimmune thrombocytopenia

A condition in newborns caused by immunity of the mother to PLATELET ALLOANTIGENS on the fetal platelets. The PLATELETS, coated with maternal ANTIBODIES, are destroyed and removed by the fetal MONONUCLEAR PHAGOCYTE SYSTEM. Affected infants may have INTRACRANIAL HEMORRHAGES. [from MeSH]

MedGen UID:
840004
Concept ID:
C3853779
Disease or Syndrome
2.

Fracture, hip, susceptibility to

MedGen UID:
382418
Concept ID:
C2674640
Finding
3.

Platelet-type bleeding disorder 16

BDPLT16 is an autosomal dominant form of congenital macrothrombocytopenia associated with platelet anisocytosis. It is a disorder of platelet production. Affected individuals may have no or only mildly increased bleeding tendency. In vitro studies show mild platelet functional abnormalities (summary by Kunishima et al., 2011 and Nurden et al., 2011). [from OMIM]

MedGen UID:
348293
Concept ID:
C1861195
Disease or Syndrome
4.

Posttransfusion purpura

Sudden onset of thrombocytopenia (reduced platelet count) within 5-10 days of the transfusion of blood products. The clinical presentation is post-transfusion purpura (PTP), wigth severe thrmbocytopenia, epistaxis, and hemorrhages. [from HPO]

MedGen UID:
98308
Concept ID:
C0398648
Finding; Pathologic Function
5.

Glanzmann thrombasthenia

Glanzmann thrombasthenia is an autosomal recessive bleeding disorder characterized by failure of platelet aggregation and by absent or diminished clot retraction. The abnormalities are related to quantitative or qualitative abnormalities of the GPIIb/IIIa platelet surface fibrinogen receptor complex resulting from mutations in either the GPIIb or GPIIIa genes (Rosenberg et al., 1997). See 187800 for discussion of a possible dominant form. [from OMIM]

MedGen UID:
52736
Concept ID:
C0040015
Disease or Syndrome
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