Thrombocytopenia 5 (THC5)

External Ids:

OMIM®: ⁵⁷ Thrombocytopenia-5 is an autosomal dominant disorder characterized by a decreased number of platelets and a bleeding tendency. Affected individuals have an increased susceptibility to the development of hematologic malignancies, and possibly to solid neoplasms. Thrombocytopenia is usually apparent in early childhood, whereas the development of malignancy can occur throughout life (summary by Zhang et al., 2015). For a discussion of genetic heterogeneity of thrombocytopenia, see 313900. (616216) (Updated 08-Dec-2022)

MalaCards based summary: Thrombocytopenia 5, also known as thrombocytopenia 5 with increased susceptibility to malignancy, is related to etv6 thrombocytopenia and predisposition to leukemia, and has symptoms including petechiae of skin An important gene associated with Thrombocytopenia 5 is ETV6 (ETS Variant Transcription Factor 6). Affiliated tissues include bone marrow, bone and skin, and related phenotypes are anemia and neutropenia

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. THC5 is an autosomal dominant disorder, associated with an increased susceptibility to the development of hematologic and solid malignancies.

Clinical features from OMIM®:

Search Clinical Trials, NIH Clinical Center for Thrombocytopenia 5