Gallbladder disease 1
Gallbladder disease 1
Definition
A rare genetic hepatic disease characterized by low biliary phospholipid concentration with symptomatic and recurring cholelithiasis which develops before the age of 40 years.
Also known as ABCB4 gene mutation-associated cholelithiasis, cholelithiasis with ABCB4 gene mutation, cholelithiasis, low phospholipid-associated, gallbladder disease 1, gallbladder disease type 1, GBD1, low phospholipid associated cholelithiasis, LPAC — per MONDO