Parents

This website provides information on patients with mutations in the TPI1 gene, including clinical data, molecular data, management and research options. This is a rare disease, less than 100 cases were described worldwide.

The syndrome caused by mutations in the TPI1 gene is a multisystem disorder characterized by haemolytic anaemia, jaundice, progressive neuromuscular dysfunction, and increased susceptibility to infection with specific pathogenic variants resulting in severe disease and death by age 5-8.

Not all individuals with a mutation in the TPI1 gene have these severe features. The severity depends on the type of the mutation.