From OMIMHereditary nonsyndromic thrombocytopenia is characterized by decreased numbers of platelets and bleeding tendency (summary by Villa et al., 1995).
Genetic Heterogeneity of Hereditary Thrombocytopenia
Autosomal dominant forms of thrombocytopenia include THC2 (188000), caused by mutation in the ANKRD26 (610855) gene on chromosome 10p12; THC4 (612004), caused by mutation in the CYCS gene (123970) on chromosome 7p15; THC5 (616216), caused by mutation in the ETV6 gene (600618) on chromosome 12p13; THC6 (616937), caused by mutation in the SRC gene (190090) on chromosome 20q11; THC7 (619130), caused by mutation in the IKZF5 gene (606238) on chromosome 10q26; THC8 (620475), caused by mutation in the ACTB gene (102630) on chromosome 7p22; THC9 (620478), caused by mutation in the THPO gene (600044) on chromosome 3q27; and THC11 (620654), caused by mutation in the RAP1B gene (179530) on chromosome 12q14.
Autosomal recessive forms include THC3 (273900), caused by mutation in the FYB gene (602731) on chromosome 5p13; THC10 (620484), caused by mutation in the PTPRJ gene (600925) on chromosome 11p11; THC12 (620757), caused by mutation in the GNE gene (603824) on chromosome 9p13; and THC13 (620776), caused by mutation in the GALE gene (606953) on chromosome 1p36.
http://www.omim.org/entry/313900 From MedlinePlus GeneticsX-linked thrombocytopenia is a bleeding disorder that primarily affects males. This condition is characterized by a blood cell abnormality called thrombocytopenia, which is a shortage in the number of blood cells involved in clotting (platelets). Affected individuals often have abnormally small platelets as well, a condition called microthrombocytopenia. X-linked thrombocytopenia can cause individuals to bruise easily or have episodes of prolonged bleeding following minor trauma or even in the absence of injury (spontaneous bleeding). Some people with this condition experience spontaneous bleeding in the brain (cerebral hemorrhage), which can cause brain damage that can be life-threatening.
Some people with X-linked thrombocytopenia also have patches of red, irritated skin (eczema) or an increased susceptibility to infections. In severe cases, additional features can develop, such as cancer or autoimmune disorders, which occur when the immune system malfunctions and attacks the body's own tissues and organs. It is unclear, however, if people with these features have X-linked thrombocytopenia or a more severe disorder with similar signs and symptoms called Wiskott-Aldrich syndrome.
Some people have a mild form of the disorder called intermittent thrombocytopenia. These individuals have normal platelet production at times with episodes of thrombocytopenia.
https://medlineplus.gov/genetics/condition/x-linked-thrombocytopenia