Thrombocytopenia 7 (THC7)

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OMIM®: ⁵⁷ Thrombocytopenia-7 (THC7) is an autosomal dominant disorder characterized by reduced peripheral platelet count. The expression and severity of the disorder is highly variable: some patients have no bleeding symptoms, whereas other have recurrent petechiae, epistaxis, or more severe bleeding episodes. A common finding is decreased alpha-granules in the platelets. There are variable findings on light and electron microscopic analysis: some patients have normal platelet morphology, whereas others show abnormal platelet morphology with cytoskeletal defects. Flow cytometric studies may show reduced expression of platelet membrane glycoproteins and activation markers (summary by Lentaigne et al., 2019 and Leinoe et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of thrombocytopenia, see 313900. (619130) (Updated 08-Dec-2022)

MalaCards based summary: Thrombocytopenia 7, is also known as thrombocytopenia, autosomal dominant, 7. An important gene associated with Thrombocytopenia 7 is IKZF5 (IKAROS Family Zinc Finger 5). Affiliated tissues include t cells, bone marrow and bone, and related phenotypes are thrombocytopenia and post-partum hemorrhage

UniProtKB/Swiss-Prot: ⁷³ A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC7 is an autosomal dominant form with highly variable severity, ranging from absence of bleeding symptoms to epistaxis or more severe bleeding episodes.

Clinical features from OMIM®:

Search Clinical Trials, NIH Clinical Center for Thrombocytopenia 7