FXN

1 article(s) in the watch · Constitutional genetics

FXN encodes mitochondrial frataxin. A GAA repeat expansion causes Friedreich ataxia.

InheritanceAutosomal recessive

Clinical spectrumProgressive ataxia, cardiomyopathy, diabetes

ManagementMultidisciplinary care; omaveloxolone approved to slow progression.

Curated publications

FXN protomutations are the source of pathogenic expanded GAA alleles in Friedreich ataxia and explain its unequal population distribution.

Friedreich ataxia

How is a FXN-related condition inherited?+

Autosomal recessive

What is the clinical spectrum associated with FXN?+

Progressive ataxia, cardiomyopathy, diabetes

What is the management associated with FXN?+

Multidisciplinary care; omaveloxolone approved to slow progression.

How many Geno'X publications cover the FXN gene?+

1 publication(s) on FXN have been selected, summarised and scored by Geno'X on a public grading grid (domains: Constitutional genetics).