Details of Disease

General Information of Disease (ID: DISKWFFA)

• Disease Name: Low phospholipid associated cholelithiasis
• Synonyms: cholelithiasis, Low phospholipid-associated; gallbladder disease 1; GBD1; LPAC; cholelithiasis with ABCB4 gene mutation; ABCB4 gene mutation-associated cholelithiasis; gallbladder disease type 1
• Definition: Low phospholipid associated cholelithiasis is a rare genetic hepatic disease characterized by cholesterol gallstones and intrahepatic stones developing before the age of 40 years.
• Disease Hierarchy:
  DISZJ4KB: Hereditary gallbladder disorder
  DISG024R: Cholecystitis
  DISKWFFA: Low phospholipid associated cholelithiasis
• Disease Identifiers:
  MONDO ID: MONDO_0010939
  UMLS CUI: C2609268
  OMIM ID: 600803
  MedGen ID: 760527
  Orphanet ID: 69663
  SNOMED CT ID: 715577009

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ABCB11	TTUXCAF	Strong	Genetic Variation	[1]

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCB4	DTZRMK5	Definitive	Semidominant	[2]
SLC4A2	DTF7GAL	Definitive	Genetic Variation	[3]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ABCB4	OTE6PY83	Definitive	Semidominant	[2]
ABCG8	OTIJ76XW	Definitive	Genetic Variation	[1]

References

• [1] ABCB4 mutations underlie hormonal cholestasis but not pediatric idiopathic gallstones.World J Gastroenterol. 2014 May 21;20(19):5867-74. doi: 10.3748/wjg.v20.i19.5867.
• [2] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
• [3] Clinical characteristics and genetic profiles of young and adult patients with cholestatic liver disease.Rev Esp Enferm Dig. 2019 Oct;111(10):775-788. doi: 10.17235/reed.2019.6168/2019.