Fanconi-Bickel Syndrome (FBS)

Alias:

Glycogen Storage Disease Due to Lactate Dehydrogenase M-Subunit Deficiency

Lactate Dehydrogenase a Deficiency

Glycogen Storage Disease Xi

Fanconi Syndrome with Intestinal Malabsorption and Galactose Intolerance

Glycogenosis Due to Lactate Dehydrogenase M-Subunit Deficiency

Hepatic Glycogenosis with Amino Aciduria and Glucosuria

Gsd Due to Lactate Dehydrogenase M-Subunit Deficiency

Hepatorenal Glycogenosis with Renal Fanconi Syndrome

Glycogen Storage Disease Due to Glut2 Deficiency

Hepatic Glycogenosis with Fanconi Nephropathy

Lactate Dehydrogenase Deficiency Type a

Glycogenosis Due to Glut2 Deficiency

Gsd Due to Glut2 Deficiency

Pseudo-Phlorizin Diabetes

Ldh-M Subunit Deficiency

Gsd Xi

Gsd11

Fbs

Glycogenosis with Glucoaminophosphaturia

Storage Disease, Glycogen, Type Xi

Glycogen Storage Disease 11

Glycogenosis, Fanconi Type

Glycogenosis Fanconi Type

Favorite

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Fanconi-Bickel Syndrome, also known as glycogen storage disease due to lactate dehydrogenase m-subunit deficiency, is related to glycogen storage disease and neonatal diabetes, and has symptoms including muscle cramp, muscle rigidity and muscular stiffness. An important gene associated with Fanconi-Bickel Syndrome is SLC2A2 (Solute Carrier Family 2 Member 2), and among its related pathways/superpathways are Metabolism and PI3K-Akt signaling pathway. Affiliated tissues include liver and spleen, and related phenotypes are failure to thrive and hypophosphatemia

Related ID：

MALACARDS：FNC009

OMIM：227810

MESH：D006008