Preferred Label : Gallbladder disease 1;
Symbol : GBD1;
CISMeF acronym : GBD1;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Cholelithiasis, low phospholipid-associated; LPAC;
Description : In general, gallbladder disease (GBD) is one of the major digestive diseases. GBD
prevalence is particularly high in some minority populations in the United States,
including Native and Mexican Americans. Gallstones composed of cholesterol (cholelithiasis)
are the common manifestations of GBD in western countries, including the United States.
Most people with gallstones remain asymptomatic through their lifetimes; however,
it is estimated that approximately 10 to 50% of individuals eventually develop symptoms.
Significant risk factors associated with GBD are age, female sex, obesity (especially
central obesity), lipids, diet, parity, type 2 diabetes (125853), medications, and
Mexican American ethnicity. GBD appears to be strongly related to the metabolic syndrome
(605552) and/or its major components, such as hyperinsulinism, dyslipidemia, and abdominal
adiposity (Boland et al., 2002; Tsai et al., 2004). Infection, specifically by Helicobacter,
has been implicated in cholelithiasis and cholecystitis (Silva et al., 2003; Maurer
et al., 2005). Low phospholipid-associated cholelithiasis is a specific form of gallbladder
disease characterized by young-adult onset of chronic cholestasis with intrahepatic
sludge and cholesterol cholelithiasis. Affected individuals have recurrence of the
disorder after cholecystectomy and show a favorable response to treatment with ursodeoxycholic
acid (UDCA) (summary by Pasmant et al., 2012). Mutation in the ABCB4 gene can cause
a spectrum of related diseases, including the more severe progressive familial intrahepatic
cholestasis-3 (PFIC3; 602347), intrahepatic cholestasis of pregnancy-3 (ICP3; 614972),
andoral contraceptive-induced cholestasis (OCIC; see 614972). - Genetic Heterogeneity
of Gallbladder Disease Two major susceptibility loci for symptomatic gallbladder disease
have been identified on chromosome 1p in Mexican Americans (GBD2, 609918; GBD3, 609919).
In addition, variations in the ABCG8 gene (605460) on chromosome 2p21 confer susceptibility
to gallbladder disease (GBD4; 611465).;
Inheritance : Autosomal dominant; Autosomal recessive;
Molecular basis : Caused by mutation in the ATP-binding cassette, subfamily B, member 4 gene (ABCB4,
171060.0005);
Laboratory abnormalities : Bile contains cholesterol crystals; Bile shows increased cholesterol/phospholipid ratio; Abnormal liver enzymes; Increased alkaline phosphatase;
Prefixed ID : #600803;
Origin ID : 600803;
UMLS CUI : C2609268;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
