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Condition report · Gastrointestinal

Low Phospholipid-Associated Cholelithiasis (LPAC)

The formation of gallstones, particularly cholesterol stones, that is associated with or caused by reduced levels of phospholipids in the bile.

A condition report looks for rare variants known to cause the conditions it covers.

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The 5 conditions we analyse

Cholelithiasis

The presence of crystallized deposits forming in the gallbladder or biliary tree, primarily composed of cholesterol, bilirubin, and bile.

Genes analysed

Also known as

gallstones

Specific forms also covered

  • Gallbladder Disease 1

    A rare genetic hepatic disease characterized by low biliary phospholipid concentration with symptomatic and recurring cholelithiasis which develops before the age of 40 years.

    ABCB4

  • Primary Intrahepatic Lithiasis

    A rare biliary tract disease characterized by stone formation within the intrahepatic bile ducts without any known cause, leading to bile stasis and repeated cholangitic episodes.

  • Choledocholithiasis

    Presence or formation of gallstones in the common bile duct.

  • Cholecystolithiasis

    Single or multiple, ovoid or irregular, solid particles that are formed from bile, cholesterol, and calcium in the gallbladder cavity.

Includes 4 related subtypes ↓
  • cholecystolithiasis
  • choledocholithiasis
  • gallbladder disease 1
  • primary intrahepatic lithiasis
MONDO:0012672MedGen 3039

Other gastrointestinal conditions

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