Fabry disease is a disease based on a genetic defect (variant) in the female sex chromosome, the X chromosome. Any father affected by the condition passes the condition on to all of his daughters, while all of his sons remain healthy. If the mother carries the mutated gene, her children – regardless of gender – have a 50% risk of inheriting the disease.
Male patients are referred to as hemizygous and female as heterozygous carriers.
The following diagrams illustrates the potential inheritance of the defective X chromosome:
Mother is ill or carrier of a fabry variant
Result: 50% probability of inheritance for sons and daughters (according to the inheritance of healthy or carrier chromosome from the mother)
This results in the possibility that all children are healthy or all children can be ill. With each new child, the dice are “rolled” again.
Father is ill or carrier of a variant,
Result: daugthers definitly inherit disease (carrier chromosome from father), sons can not inherit disease from father (Y chromosome has no effect, defect X chromosome won’t inherit)
With the Fabry Family Tree Tool from Amicus Therapeutics, you can easily find out who in your family is at risk for Fabry disease. This tool is designed for people with a confirmed Fabry diagnosis to create your family tree. Fabry family tree.