Fanconi-Bickel Syndrome (SLC2A2)

Fanconi-Bickel Syndrome is an autosomal recessive disorder caused by pathogenic variants in the gene SLC2A2. The age of onset of this disorder is infancy. This disorder is characterized by accumulation of glycogen in the liver and kidneys leading to organ enlargement, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose. Short stature, excessive urine production, and rickets related to proximal tubular losses are additional clinical features. Individuals may also have fractures in childhood due to generalized osteopenia. Life expectancy is normal. No clear genotype-phenotype correlation has been established.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):