Thrombocythemia is a condition characterized by a sustained elevation of platelet numbers, which can result in episodes of thrombosis and hemorrhage. Affected individuals are also at an increased risk of myocardial infarctions.
Diseases of the musculoskeletal system and connective tissue
Autosomal dominant
9p24.1
Thrombocythemia is a condition characterized by a sustained elevation of platelet numbers, which can result in episodes of thrombosis and hemorrhage. Affected individuals are also at an increased risk of myocardial infarctions.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 614521.1.1 | Lebanon | Female | No | Thrombocytosis ; Autoimmune thrombocyto... Thrombocytosis ; Autoimmune thrombocytopenia ; Renal insufficiency  | NM_004972.3:c.1849G>T | Heterozygous | Autosomal, Dominant | Nishihori et al. 2014 | Patient also suffere... | |
| 614521.G.1 | Lebanon | Thrombocytosis Thrombocytosis | NM_004972.3:c.1849G>T | Mahfouz et al. 2011 | Study with 229 Myelo... |