Low phospholipid associated cholelithiasis

General Information (adopted from Orphanet):

Synonyms, Signs: CHOLELITHIASIS, LOW PHOSPHOLIPID-ASSOCIATED
LPAC
GBD1
Cholelithiasis with ABCB4 gene mutation
ABCB4 gene mutation-associated cholelithiasis
Number of Symptoms 23
OrphanetNr: 69663
OMIM Id: 600803
ICD-10:
UMLs: C2609268
MeSH:
MedDRA: 10068936
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
Autosomal recessive inheritance
[Omim]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic biliary tract disease
 -Rare genetic disease
Rare biliary tract disease
 -Rare hepatic disease

Symptom Information: Sort by abundance 

1
(HPO:0002910) Elevated hepatic transaminases 158 / 7739
2
(HPO:0001395) Hepatic fibrosis 67 / 7739
3
(HPO:0001733) Pancreatitis 46 / 7739
4
(HPO:0000952) Jaundice rare [HPO:skoehler] 105 / 7739
5
(HPO:0001082) Cholecystitis 9 / 7739
6
(HPO:0011980) Cholesterol gallstones 1 / 7739
7
(HPO:0001081) Cholelithiasis 36 / 7739
8
(HPO:0003155) Elevated alkaline phosphatase 52 / 7739
9
(MedDRA:10008604) Cholangitis 6 / 7739
10
(OMIM) Intrahepatic sludge 1 / 7739
11
(OMIM) Cholesterol cholelithiasis 1 / 7739
12
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
13
(MedDRA:10004663) Biliary colic 1 / 7739
14
(OMIM) Bile contains cholesterol crystals 1 / 7739
15
(OMIM) Bile shows increased cholesterol/phospholipid ratio 1 / 7739
16
(MedDRA:10062199) Microlithiasis 1 / 7739
17
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
18
(OMIM) Echogenic material in intrahepatic bile ducts 1 / 7739
19
(OMIM) Cholestasis, chronic 1 / 7739
20
(OMIM) Intrahepatic cholelithiasis 1 / 7739
21
(OMIM) Ductal proliferation seen on biopsy (in some patients) 3 / 7739
22
(HPO:0030151) Cholangitis 10 / 7739
23
(OMIM) Periportal macrophage infiltration 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Rosmorduc et al. (2001) reported 6 adult patients with gallbladder disease. There were 4 women and 2 men, including a mother and son. Common features were adult onset of symptoms related to chronic cholestasis and biliary pain, including ...
Molecular genetics OMIM Rosmorduc et al. (2001) identified 4 different mutations in the ABCB4 gene (171060.0005-171060.0008) in 6 symptomatic adult patients with LPAC. Mutations occurred in both the homozygous and compound heterozygous state. One of the female patients presented during pregnancy, ...