Platelet-type bleeding disorder 15- MedGen UID:
- 767577
- •Concept ID:
- C3554663
- •
- Disease or Syndrome
Platelet-type bleeding disorder-15 is an autosomal dominant form of macrothrombocytopenia. Affected individuals usually have no or only mild bleeding tendency, such as epistaxis. Laboratory studies show decreased numbers of large platelets and anisocytosis, but the platelets show no in vitro functional abnormalities (summary by Kunishima et al., 2013).
Platelet-type bleeding disorder 16- MedGen UID:
- 1781222
- •Concept ID:
- C5442010
- •
- Disease or Syndrome
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).
Genetic Heterogeneity of Glanzmann Thrombasthenia-like with Macrothromocytopenia
See BDPLT24 (619271), caused by mutation in the ITGB3 gene (173470) on chromosome 17q21.32. Together the ITGB2B and ITBG3 genes form an integrin, known as platelet glycoprotein GPIIb/III, that is expressed on platelets.
Bleeding disorder, platelet-type, 24- MedGen UID:
- 1785711
- •Concept ID:
- C5543280
- •
- Disease or Syndrome
Platelet-type bleeding disorder-24 (BDPLT24) 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).
For a discussion of genetic heterogeneity of Glanzmann thrombasthenia-like with macrothrombocytopenia, see 187800.
Thrombocytopenia 8, with dysmorphic features and developmental delay- MedGen UID:
- 1851006
- •Concept ID:
- C5882677
- •
- Disease or Syndrome
Thrombocytopenia-8 with dysmorphic features and developmental delay (THC8) is an autosomal dominant syndromic disorder characterized by early-childhood onset of chronic thrombocytopenia with anisotropy and immature enlarged platelets, usually without spontaneous bleeding episodes. Affected individuals have dysmorphic facial features and variable developmental delay with speech delay and mildly impaired intellectual development (Latham et al., 2018).
For a discussion of genetic heterogeneity of thrombocytopenia, see 313900.