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Results 11 - 20 of 41 for Inherited thrombocytopenia
  1. GATA1 gene 
    ... which are characteristic features of dyserythropoietic anemia and thrombocytopenia. More About ... and they are not inherited. Somatic mutations in the GATA1 gene increase the ...
    https://medlineplus.gov/genetics/gene/gata1 - Genetics
  2. X-linked thrombocytopenia 
    ... the actin cytoskeleton. In people with X-linked thrombocytopenia, these signaling problems primarily affect ... This condition is inherited in an X-linked pattern. The gene associated ...
    https://medlineplus.gov/genetics/condition/x-linked-thrombocytopenia - Genetics
  3. Autoimmune lymphoproliferative syndrome 
    ... white blood cells (autoimmune neutropenia), or platelets (autoimmune thrombocytopenia). Less commonly, autoimmune disorders that affect other organs ... frequently as a combination of hemolytic anemia and thrombocytopenia, also called Evans syndrome. People with this classic ...
    https://medlineplus.gov/.../autoimmune-lymphoproliferative-syndrome - Genetics
  4. Ataxia-pancytopenia syndrome 
    ... abnormal bleeding due to low numbers of platelets (thrombocytopenia). Ataxia-pancytopenia syndrome is also ... syndrome is caused by inherited mutations in the SAMD9L gene. The protein produced ...
    https://medlineplus.gov/.../condition/ataxia-pancytopenia-syndrome - Genetics
  5. Shwachman-Diamond syndrome 
    ... or a reduction in the amount of platelets (thrombocytopenia), which can result in easy bruising and abnormal ... caused by mutations in the SBDS gene, are inherited in an autosomal recessive pattern, which means both ...
    https://medlineplus.gov/.../condition/shwachman-diamond-syndrome - Genetics
  6. MYH9-related disorder 
    ... people with MYH9-related disorder are due to thrombocytopenia. Thrombocytopenia is a reduced level of circulating platelets, which ... features. All individuals with MYH9-related disorder have thrombocytopenia and enlarged platelets. Most commonly, affected individuals will ...
    https://medlineplus.gov/genetics/condition/myh9-related-disorder - Genetics
  7. Gaucher disease 
    ... bruising caused by a decrease in blood platelets (thrombocytopenia), bone abnormalities such as bone pain and fractures, ... features of Gaucher disease. GBA1 This condition is inherited in an autosomal recessive pattern, which means both ...
    https://medlineplus.gov/genetics/condition/gaucher-disease - Genetics
  8. Nakajo-Nishimura syndrome 
    ... a reduced amount of blood cells called platelets (thrombocytopenia), and abnormal deposits of calcium (calcification) in an ... function of these cells. PSMB8 This condition is inherited in an autosomal recessive pattern, which means both ...
    https://medlineplus.gov/genetics/condition/nakajo-nishimura-syndrome - Genetics
  9. Spondyloenchondrodysplasia with immune dysregulation 
    ... as a decrease in blood cells called platelets (thrombocytopenia), premature destruction of red blood cells (hemolytic anemia), ... disability, is currently unknown. ACP5 This condition is inherited in an autosomal recessive pattern, which means both ...
    https://medlineplus.gov/...hondrodysplasia-with-immune-dysregulation - Genetics
  10. MPL gene 
    ... gene cause a rare condition called congenital amegakaryocytic thrombocytopenia (CAMT). This condition begins in infancy and is ... by low numbers of megakaryocytes (megakaryocytopenia) and platelets (thrombocytopenia). CAMT can lead to an impairment of bone ...
    https://medlineplus.gov/genetics/gene/mpl - Genetics
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