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Results 11 - 20 of 35 for Inherited thrombocytopenia
  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. Pearson syndrome 
    ... numbers of white blood cells (neutropenia) and platelets (thrombocytopenia). Neutropenia can lead to frequent infections; thrombocytopenia sometimes causes easy bruising and bleeding. When visualized ...
    https://medlineplus.gov/genetics/condition/pearson-syndrome - Genetics
  8. Familial acute myeloid leukemia with mutated CEBPA 
    ... have a reduction in the amount of platelets (thrombocytopenia), which can result in easy bruising and abnormal ... gene that are passed down within families. These inherited mutations are present throughout a person's life ...
    https://medlineplus.gov/...acute-myeloid-leukemia-with-mutated-cebpa - Genetics
  9. Multiple myeloma 
    ... as pneumonia; and a reduced number of platelets (thrombocytopenia), which can lead to abnormal bleeding and bruising. ... mutations, which are genetic changes that are not inherited but occur during an individual's lifetime in ...
    https://medlineplus.gov/genetics/condition/multiple-myeloma - Genetics
  10. Common variable immune deficiency 
    ... the most commonly occurring autoimmune disorders are immune thrombocytopenia, which is an abnormal bleeding disorder caused by ... and genetic factors.In rare cases, CVID is inherited in an autosomal recessive pattern, which means both ...
    https://medlineplus.gov/.../common-variable-immune-deficiency - Genetics
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