Inheritance in Fabry disease

Fabry disease is a disease based on a genetic defect (mutation) 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 diagram illustrates the inheritance of the defective X chromosome:


The background is that women inherit one of the two X chromosomes (i.e. in sick women there is a 50% chance of inheritance to the children, regardless of whether they are boys or girls, right half of the picture) 

Men either inherit the X chromosome (i.e. it will be a girl), a sick man always inherits the defective X chromosome to female offspring. The Y chromosome plays no role in Fabry disease, i.e. if the man inherits the Y chromosome, it is a boy who does not inherit Fabry disease. Left half of the picture

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.

 back to the clinical picture (What is Fabry disease)