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GATA2 deficiency is a grouping of several disorders caused by common defect, namely, familial or sporadic inactivating mutations in one of the two parental GATA2 genes.Being the gene haploinsufficient, mutations that cause a reduction in the cellular levels of the gene's product, GATA2, are autosomal dominant.
Depending on the grade of the sarcoma, it is treated with surgery, [8] chemotherapy, and/or radiotherapy.Though surgery is the current standard of care for hemangiopericytomas, metastasis and tumor recurrence occur in more than 30% of patients, in particular recurrence in the pelvis and retroperitoneum [3] and metastasis in bone and lungs. [9]
Upshaw–Schulman syndrome (USS) is the recessively inherited form of thrombotic thrombocytopenic purpura (TTP), a rare and complex blood coagulation disease. USS is caused by the absence of the ADAMTS13 protease resulting in the persistence of ultra large von Willebrand factor multimers (ULvWF), causing episodes of acute thrombotic microangiopathy with disseminated multiple small vessel ...
Kasabach–Merritt syndrome (KMS), also known as hemangioma with thrombocytopenia, [1] is a rare disease, usually of infants, in which a vascular tumor leads to decreased platelet counts and sometimes other bleeding problems, [2] which can be life-threatening. [3] It is also known as hemangioma thrombocytopenia syndrome.
Hemangioblastomas usually occur in adults, yet tumors may appear in VHL syndrome at much younger ages. Men and women are approximately at the same risk. Although they can occur in any section of the central nervous system , they usually occur in either side of the cerebellum , the brain stem or the spinal cord .
Angiolymphoid hyperplasia with eosinophilia (also known as: [1] "Epithelioid hemangioma," "Histiocytoid hemangioma," "Inflammatory angiomatous nodule," "Intravenous atypical vascular proliferation," "Papular angioplasia," "Inflammatory arteriovenous hemangioma," and "Pseudopyogenic granuloma") usually presents with pink to red-brown, dome-shaped, dermal papules or nodules of the head or neck ...
2. To function properly, these items require a vigorous, up-and-down motion before use. 3. A blending of names/terms to create something new. 4. The words in this category end with terms ...
The Emberger syndrome is a rare, autosomal dominant, genetic disorder caused by familial or sporadic inactivating mutations in one of the two parental GATA2 genes. The mutation results in a haploinsufficiency (i.e. reduction) in the levels of the gene's product, the GATA2 transcription factor .