Fabry Disease (GLA)
Fabry disease is a pan-ethnic disorder that is caused by pathogenic variants in the GLA gene. It is inherited in an X-linked manner, and therefore males are affected more often and more severely than females. However, some females may be as severely affected as males. Onset is typically in childhood or adolescence. Major clinical features include kidney dysfunction that progresses to end-stage renal disease by middle age. If successfully treated for kidney disease, many patients will later develop cardiac problems. Other symptoms include episodes of severe pain in the extremities, production of less sweat, and raised red bumps called angiokeratomas. Some patients with a milder form, known as the cardiac form, will only develop cardiac problems after middle age. Although patients with the milder form have pathogenic variants that retain more enzyme function, the same variants have been identified in patients with both the classic and the cardiac forms of the disease. Pathogenic variants expected to result in no enzymatic function (ie, null variants) are likely to cause the classic form of the disease.
|Disease Name||Gene||Guaranteed Exons||Inheritance||Ethnicity||Carrier Frequency||Detection Rate||Residual Risk|
|Fabry Disease||GLA||1-7  (*29)||XL||Worldwide||< 1 in 500||64%||0.000720980533525595|