eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | gigantism |
| Comorbidity | C0040034|thrombocytopenia |
| Sentences | 16 |
| PubMedID- 21173099 | Results: patients all had a moderate thrombocytopenia with giant platelets and a bleeding tendency whose severity varied among individuals. |
| PubMedID- 25928053 | She had received the diagnosis of bernard-soulier syndrome ten years ago, suspected by the finding of thrombocytopenia with giant platelets on a routine complete blood count (cbc), and confirmed by the finding of failed ristocetin-induced platelet aggregation, even after the addition of normal plasma. |
| PubMedID- 23569517 | Full blood film demonstrated true thrombocytopenia with giant form platelets. |
| PubMedID- 24783421 | Besides thrombocytopenia with giant platelets, on admission the patient also suffered sensorineuronal hearing loss and proteinuria. |
| PubMedID- 25061177 | We thus conclude that prkacg is a new central actor in platelet biogenesis and a new gene involved in inherited thrombocytopenia with giant platelets associated with a thrombocytopathy. |
| PubMedID- 25607658 | Myh9 is a member of myosin superfamily of motor proteins, and its defect causes myh9-related disease (myh9-rd), an autosomal dominant thrombocytopenia with giant platelets [36]. |
| PubMedID- 21113250 | Methods: we report on a patient demonstrating typical bss phenotype (thrombocytopenia with giant platelets, bleeding symptoms). |
| PubMedID- 22558294 | Myh9-related disease (myh9-rd) is an autosomal dominant disorder characterized by congenital thrombocytopenia with giant platelets associated with the risk of developing progressive nephropathy during infancy or adult life, sensorineural deafness and presenile cataract [1], [2]. |
| PubMedID- 25368731 | A falsely low platelet counts (pseudo-thrombocytopenia) may be due to misidentification of giant platelets as red cells by the automated platelet counts, other causes are edta-induced platelet clumping and satellitism [30]. |
| PubMedID- 26056797 | Myh9 disorder is a rare autosomal dominant disease characterized by congenital thrombocytopenia with giant platelets and leukocyte inclusion bodies and is often associated with alport-like symptoms, such as glomerulonephritis, sensorineural hearing loss, and cataracts. |
| PubMedID- 22967416 | Results: six patients all shared the common features of thrombocytopenia with giant platelets and granulocyte inclusions. |
| PubMedID- 21516706 | The laboratory data on admission revealed marked thrombocytopenia with giant platelets and a dohle body-like cytoplasmic inclusion body in granulocytes. |
| PubMedID- 22343686 | Bernard-soulier syndrome (bss) is a rare autosomal recessive disorder characterized by a prolonged skin-bleeding time and thrombocytopenia with giant platelets. |
| PubMedID- 23154720 | We herein describe a case of giant-cell myocarditis complicated by heparin-induced thrombocytopenia (hit). |
| PubMedID- 24002050 | giant vascular malformation with thrombocytopenia in a newborn. |
| PubMedID- 20174760 | Myh9-related disease ( myh9-rd) is an autosomal dominant thrombocytopenia with giant platelets variably associated with young-adult onset of progressive sensorineural hearing loss, presenile cataract, and renal damage. |
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