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Results 21 - 30 of 35 for Inherited thrombocytopenia
  1. VEXAS syndrome 
    ... blood cells called platelets (a disorder known as thrombocytopenia); platelets are needed for normal blood clotting. Some ... changes, which are called somatic variants, are not inherited. UBA1 gene variants that cause VEXAS syndrome result ...
    https://medlineplus.gov/genetics/condition/vexas-syndrome - Genetics
  2. Aicardi-Goutières syndrome 
    ... platelets that are needed for normal blood clotting (thrombocytopenia). They may develop intermittent fevers in the absence ... different inheritance patterns. In most cases, it is inherited in an autosomal recessive pattern, which means both ...
    https://medlineplus.gov/.../condition/aicardi-goutieres-syndrome - Genetics
  3. 22q11.2 deletion syndrome 
    ... result in seizures), a decrease in blood platelets (thrombocytopenia), significant feeding difficulties, gastrointestinal problems, and hearing loss. ... cases of 22q11.2 deletion syndrome are not inherited, however. The deletion occurs most often as a ...
    https://medlineplus.gov/genetics/condition/22q112-deletion-syndrome - Genetics
  4. Cytogenetically normal acute myeloid leukemia 
    ... and a reduction in the amount of platelets (thrombocytopenia) can result in easy bruising and abnormal bleeding. ... NCBI Gene: KMT2A CN-AML is not usually inherited but arises from genetic changes in the body' ...
    https://medlineplus.gov/...genetically-normal-acute-myeloid-leukemia - Genetics
  5. Langerhans cell histiocytosis 
    ... clotting problems due to low numbers of platelets (thrombocytopenia).Other signs and symptoms that may occur in ... only in certain cells. These changes are not inherited.The BRAF gene provides instructions for making a ...
    https://medlineplus.gov/.../condition/langerhans-cell-histiocytosis - Genetics
  6. Acute promyelocytic leukemia 
    ... the low number of platelets in the blood (thrombocytopenia) and also because the cancerous cells release substances ... genetic change, called a somatic mutation, is not inherited.The PML-RARα protein functions differently than the ...
    https://medlineplus.gov/.../condition/acute-promyelocytic-leukemia - Genetics
  7. Fanconi anemia 
    ... clotting problems due to low numbers of platelets (thrombocytopenia). People with Fanconi anemia may also develop myelodysplastic ... RFWD3 SLX4 UBE2T XRCC2 Fanconi anemia is typically inherited in an autosomal recessive pattern, which means both ...
    https://medlineplus.gov/genetics/condition/fanconi-anemia - Genetics
  8. Hereditary folate malabsorption 
    ... In addition, some affected individuals have fewer platelets (thrombocytopenia), which means they can bruise easily. Without treatment, ... of hereditary folate malabsorption. SLC46A1 This condition is inherited in an autosomal recessive pattern, which means both ...
    https://medlineplus.gov/.../hereditary-folate-malabsorption - Genetics
  9. 1q21.1 microdeletion 
    ... distinguish it from the genetic change that causes thrombocytopenia-absent radius syndrome (TAR syndrome). TAR syndrome results ... GJA8 GPR89B HYDIN PRKAB2 1q21.1 microdeletion is inherited in an autosomal dominant pattern, which means that ...
    https://medlineplus.gov/genetics/condition/1q211-microdeletion - Genetics
  10. Gray platelet syndrome 
    ... phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and alpha-granule deficiency. Haematologica. 2013 Jun;98( ...
    https://medlineplus.gov/genetics/condition/gray-platelet-syndrome - Genetics
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