CDG | Hepatomegaly | Hepatocellular disease | Cholestasis | Steatosis | Fibrosis | Liver tumor |
|---|
PMM2 | + | + | + | + | + | + |
ALG6 | − | + | − | N/A | N/A | − |
ALG8 | − | + | − | + | − | − |
ALG12 | − | − | − | N/A | N/A | − |
ALG13 | + | + | − | + | − | + |
CCDC115 | + | + | − | + | + | − |
DDOST | − | − | + | N/A | N/A | − |
DHDDS | − | − | − | − | − | − |
MPI | − | + | − | N/A | + | − |
PGM1 | − | + | − | N/A | N/A | − |
SLC10A7 | − | + | − | N/A | N/A | − |
SLC35A2 | − | + | − | − | − | − |
SLC35C1 | − | − | − | N/A | N/A | − |
SLC39A8 | − | − | − | − | − | − |
TMEM165 | − | + | − | − | − | − |
VMA21 | − | + | − | − | − | − |
- Classification adapted from Ferreira et al. [31]. Hepatomegaly was defined as an enlarged liver on physical exam or ultrasonography. Hepatocellular disease was defined as elevated ALT or AST. Cholestasis was defined as jaundice, elevated bilirubin, or histopathological evidence of bile accumulation. Steatosis was defined as ultrasonographic or histopathological evidence of hepatocellular lipid accumulation. Fibrosis was defined as transient elastography score equal or greater than F1 or histopathological evidence of fibrosis. Liver tumor was defined as any imaging evidence of tumoral growth (neoplastic or non-neoplastic) in the liver. + denotes presence of the manifestation in the phenotype of at least one patient with the disorder; − denotes absence of the manifestation in all patients analyzed
