thrombocytopenia 5
Any thrombocytopenia in which the cause of the disease is a mutation in the ETV6 gene that impair transcriptional repression and megakaryocyte maturation. It is characterized by lifelong thrombocytopenia, mild mucocutaneous bleeding, and variable red cell macrocytosis. Affected individuals have a significantly increased susceptibility to hematologic malignancies, including B‑cell ALL, myelodysplastic syndrome, CMML, and mixed‑phenotype acute leukemia, with onset ranging from childhood to adulthood. Functional studies show that pathogenic ETV6 variants disrupt DNA binding, alter nuclear localization, and exert dominant‑negative effects on hematopoiesis, providing a mechanistic basis for both the platelet phenotype and cancer predisposition.
MONDO:0000009
inherited bleeding disorder, platelet-type
is_a
MONDO:0011071
hereditary thrombocytopenia and hematologic cancer predisposition syndrome
is_a
MONDO:0100241
inherited thrombocytopenia
is_a
ETV6 thrombocytopenia
exact
ETV6-related thrombocytopenia with or without myeloid malignancy
exact
THC5
related
thrombocytopenia 5
exact
thrombocytopenia caused by mutation in ETV6
exact