Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
constitutional
|  
|  
|  
| gain of function
|
in pulmonary hypertension |
constitutional
| somatic mutation
|  
|  
|  
|
cause solitary and multiple sporadic venous malformations |
tumoral
|  
|  
|  
| gain of function
|
may be important in modifying the evolution of gliomas during conventional chemotherapy regimens, and open new avenues for the search of more effective therapies to avoid the inevitable brain tumor recurrence |
constitutional
| somatic mutation
|  
|  
|  
|
in venous malformations (VM) |
constitutional
| somatic mutation
|  
|  
|  
|
in blue rubber bleb nevus syndrome (Bean syndrome) |
constitutional
|  
|  
| --other
|  
|
disruption of TEK/angiopoietin signaling and procoagulant changes in endothelial cells in severe COVID-19 |
constitutional
|  
|  
|  
| loss of function
|
disruption of the endothelial TEK axis is a sentinel event in septic disseminated intravascular coagulation (DIC) |
constitutional
|  
|  
| --over
|  
|
markedly increased prevalence of endothelial tyrosine kinase receptor (TEK/TIE2)+ macrophages in Alveolar capillary dysplasia (ACD) is a rare lung developmental disorder leading to persistent pulmonary arterial hypertension and fatal outcomes in newborns |