gallbladder disease 1
Findings
No curated finding names gallbladder disease 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0010939), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Autosomal recessive inheritance
- Onset and course
- Adult onset
HPO, annotations 2026-09-02
Features
23 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Bile duct proliferationHPOHP:0001408
- 3 of 3 reported patients
- CholelithiasisHPOHP:0001081
- 6 of 6 reported patients
- Frequent (30% to 79% of cases)
- CholestasisHPOHP:0001396
- 6 of 6 reported patients
- Cholesterol gallstonesHPOHP:0011980
- 6 of 6 reported patients
- Portal inflammationHPOHP:0033196
- 3 of 3 reported patients
- Abdominal colicHPOHP:0011848
- Very frequent (80% to 99% of cases)
- Intrahepatic cholestasis
Show the remaining 11
- CholecystitisHPOHP:0001082
- Occasional (5% to 29% of cases)
- Hepatocellular carcinomaHPOHP:0001402
- Occasional (5% to 29% of cases)
- HypercholesterolemiaHPOHP:0003124
- Occasional (5% to 29% of cases)
- HypertensionHPOHP:0000822
- Occasional (5% to 29% of cases)
- Neoplasm of the liverHPOHP:0002896
- Occasional (5% to 29% of cases)
- ObesityHPOHP:0001513
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ABCB4HGNC:45
- Definitive · Ambry Genetics · Semidominant · 2016
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Semidominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
7 names
Resolves to: gallbladder disease 1
- Also called
- ABCB4 gene mutation-associated cholelithiasischolelithiasis with ABCB4 gene mutationcholelithiasis, low phospholipid-associatedgallbladder disease type 1GBD1low phospholipid associated cholelithiasisLPAC