Fanconi-Bickel syndrome

Orpha code: 2088OMIM code: 227810

Definition

A rare glycogen storage disease due to a deficiency in solute carrier family 2, facilitated glucose transporter member 2 and characterized by hepatorenal glycogen accumulation leading to severe renal tubular dysfunction and impaired glucose and galactose metabolism.

Disease data
Classification

Disease

Synonyms
GSD due to GLUT2 deficiency
Choroba Fanconiego i Bickela
Glikogenoza Fanconiego i Bickela
Glikogenoza z powodu niedoboru GLUT2
GSD z powodu niedoboru GLUT2
Glycogen storage disease due to GLUT2 deficiency
Glycogenosis due to GLUT2 deficiency
ORPHA code
2088
OMIM code
227810
ICD10 code
E74.0
ICD11 code
5C51.3

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl