MCID: GLL024
MIFTS: 39

Gallbladder Disease 1

Categories: Genetic diseases, Gastrointestinal diseases, Nephrological diseases, Liver diseases, Rare diseases

Aliases & Classifications for Gallbladder Disease 1

MalaCards integrated aliases for Gallbladder Disease 1:

Name: Gallbladder Disease 1 53 71 13
Gallstones 71 40 41 59
Cholelithiasis 71 69
Cholecystitis 71 69
Gbd1 53 71
Lpac 53 55
Cholelithiasis, Low Phospholipid-Associated; Lpac 53
Abcb4 Gene Mutation-Associated Cholelithiasis 55
Cholelithiasis, Low Phospholipid-Associated 53
Low Phospholipid Associated Cholelithiasis 55
Low Phospholipid-Associated Cholelithiasis 69
Cholelithiasis with Abcb4 Gene Mutation 55
Cholecystolithiasis 69

Characteristics:

Orphanet epidemiological data:

55
low phospholipid associated cholelithiasis
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adult;

OMIM:

53
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
onset usually before age 40 years (range 15 to 55)
recurrence of symptoms after cholecystectomy
favorable response to ursodeoxycholic acid treatment
symptoms may be exacerbated in women during pregnancy or by oral contraceptives (see )


HPO:

31

Classifications:

Orphanet: 55  
Rare hepatic diseases


External Ids:

OMIM 53 600803
Orphanet 55 ORPHA69663
UMLS via Orphanet 70 C2609268

Summaries for Gallbladder Disease 1

OMIM : 53 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). (600803)

MalaCards based summary : Gallbladder Disease 1, also known as gallstones, is related to cholecystitis and acalculous cholecystitis, and has symptoms including elevated hepatic transaminases, hepatic fibrosis and cholelithiasis. An important gene associated with Gallbladder Disease 1 is ABCB4 (ATP Binding Cassette Subfamily B Member 4). Affiliated tissues include liver, small intestine and kidney.

MedlinePlus : 40 Your gallbladder is a pear-shaped organ under your liver. It stores bile, a fluid made by your liver to digest fat. As your stomach and intestines digest food, your gallbladder releases bile through a tube called the common bile duct. The duct connects your gallbladder and liver to your small intestine. Your gallbladder is most likely to give you trouble if something blocks the flow of bile through the bile ducts. That is usually a gallstone. Gallstones form when substances in bile harden. Gallstone attacks usually happen after you eat. Signs of a gallstone attack may include nausea, vomiting, or pain in the abdomen, back, or just under the right arm. Gallstones are most common among older adults, women, overweight people, Native Americans and Mexican Americans. Gallstones are often found during imaging tests for other health conditions. If you do not have symptoms, you usually do not need treatment. The most common treatment is removal of the gallbladder. Fortunately, you can live without a gallbladder. Bile has other ways to reach your small intestine. NIH: National Institute of Diabetes and Digestive and Kidney Diseases

UniProtKB/Swiss-Prot : 71 Gallbladder disease 1: One of the major digestive diseases. Gallstones composed of cholesterol (cholelithiasis) are the common manifestations in western countries. Most people with gallstones, however, remain asymptomatic through their lifetimes.

PubMed Health : 59
About gallstones: Gallbladder surgery is one of the most common operations in Germany. About 175,000 women and men have gallbladder surgery each year, mostly because they have gallstones that are causing symptoms or complications. But gallstones are often harmless, and a lot of people don't even notice that they have them. If they do get problems, people may wonder whether to treat the symptoms or have surgery.Gallstones form when a digestive fluid called bile thickens. The liver produces up to one liter of bile every day. It is used by the body to digest fats in the bowel. Most of the bile flows directly through the bile ducts into the small intestine after you eat. Between meals, the rest of the bile is stored and concentrated in the gallbladder. The gallbladder is a small, pear-shaped hollow organ, located in the right abdomen, just below the liver.

Related Diseases for Gallbladder Disease 1

Diseases in the Gallbladder Disease family:

Gallbladder Disease 1 Gallbladder Disease 2
Gallbladder Disease 3 Gallbladder Disease 4

Diseases related to Gallbladder Disease 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 cholecystitis 12.8
2 acalculous cholecystitis 12.4
3 emphysematous cholecystitis 12.4
4 xanthogranulomatous cholecystitis 12.2
5 cholestasis with gallstone, ataxia, and visual disturbance 11.9
6 mirizzi syndrome 11.2
7 bisphosphoglycerate mutase deficiency 10.9
8 duodenal atresia 10.9
9 dicrocoeliasis 10.9
10 opisthorchiasis 10.9
11 cholelithiasis 10.1

Graphical network of the top 20 diseases related to Gallbladder Disease 1:



Diseases related to Gallbladder Disease 1

Symptoms & Phenotypes for Gallbladder Disease 1

Symptoms via clinical synopsis from OMIM:

53
Abdomen Liver:
hepatic fibrosis
ductal proliferation seen on biopsy (in some patients)
cholestasis, chronic
intrahepatic cholelithiasis
cholesterol cholelithiasis
more
Abdomen Pancreas:
pancreatitis

Skin Nails Hair Skin:
jaundice (in some patients)

Abdomen Biliary Tract:
cholelithiasis
cholecystitis
cholesterol gallstones
cholangitis
biliary colic

Laboratory Abnormalities:
increased alkaline phosphatase
abnormal liver enzymes
bile contains cholesterol crystals
bile shows increased cholesterol/phospholipid ratio


Clinical features from OMIM:

600803

Human phenotypes related to Gallbladder Disease 1:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 elevated hepatic transaminases 31 HP:0002910
2 hepatic fibrosis 31 HP:0001395
3 cholelithiasis 31 HP:0001081
4 jaundice 31 occasional (7.5%) HP:0000952
5 pancreatitis 31 HP:0001733
6 cholecystitis 31 HP:0001082
7 elevated alkaline phosphatase 31 HP:0003155
8 cholesterol gallstones 31 HP:0011980
9 cholangitis 31 HP:0030151

Drugs & Therapeutics for Gallbladder Disease 1

PubMedHealth treatment related to Gallbladder Disease 1: 59

If gallstones don't cause any problems, then there's usually no need to treat them. A lot of people with gallstones don't have any symptoms for a long time. What's more, any treatment can have side effects, and surgery always carries certain risks.People who have very large gallstones or specific types of porcelain gallbladder (calcification of the gallbladder wall) are at greater risk of developing gallbladder cancer. Surgical removal of the gallbladder may then be considered even if they don't have any symptoms.Several painkillers and antispasmodic medications are available for the relief of painful colic. Symptoms like bloating or nausea can also be treated with medicine. But drugs that can dissolve the gallstones are used only rarely.Removing the gallbladder is the only way to permanently prevent painful colic. Whether and when this step is taken will depend on several factors, including the severity of symptoms and the risk of complications.

Search Clinical Trials , NIH Clinical Center for Gallbladder Disease 1

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Cochrane evidence based reviews: gallstones

Genetic Tests for Gallbladder Disease 1

Anatomical Context for Gallbladder Disease 1

MalaCards organs/tissues related to Gallbladder Disease 1:

38
Liver, Small Intestine, Kidney, Testes

Publications for Gallbladder Disease 1

Articles related to Gallbladder Disease 1:

(show top 50) (show all 564)
# Title Authors Year
1
Pearl-White Gallstones Causing Choledocholithiasis. ( 29392151 )
2018
2
Erratum in: "Erratum to Recurrence of gallstone disease following non-surgical treatment of acute cholecystitis in the elderly population" [Med Clin (Barc). (2017) 149(3)-139]. ( 28756832 )
2017
3
Plasma Glutathione Peroxidase (GPX1) Levels and Oxidative Stress in Gallstone Patients Operated with Two Different Cholecystectomy Techniques: A Randomized Study with Special Reference to Cancer Patients. ( 29187474 )
2017
4
Laparoscopic Management of a Proximal Jejunal Gallstone Ileus with Patulous Ampulla and Choledochal Cyst-a Report of Unusual Presentation and a Review. ( 28331267 )
2017
5
Recurre of gallstone disease following non-surgical treatment of acute cholecystitis in the elderly population. ( 28396133 )
2017
6
Predictors of incidental gallbladder cancer in patients undergoing cholecystectomy for benign gallbladder disease: Results from a population-based gallstone surgery registry. ( 28400123 )
2017
7
The NPC1L1 Polymorphism 1679C>G Is Associated with Gallstone Disease in Chinese Patients. ( 26800364 )
2016
8
An Unusual Presentation of Gallstone Ileus: A Red-Herring or Missed Diagnosis. ( 27133032 )
2016
9
Two cases of cystic artery pseudoaneurysm rupture due to acute cholecystitis with gallstone impaction in the neck. ( 27593367 )
2016
10
Polymorphism and Expression Profile of Cholecystokinin Type A Receptor in Relation to Gallstone Disease Susceptibility. ( 27287528 )
2016
11
Spilled gallstones mimicking a retroperitoneal sarcoma following laparoscopic cholecystectomy. ( 27158213 )
2016
12
Gallstones and the Risk of Gallbladder Cancer Mortality: A Cohort Study. ( 27575712 )
2016
13
Retraction notice to: Gallstone ileus without bilioenteric fistula years after bypass surgery for Crohn's disease. Case report and clues to etiology of a neglected cause of obstruction [IJSCR Volume 9, 2015, Pages 134-138]. ( 27086910 )
2016
14
The Progression of Cholelithiasis to Gallstone Ileus: Do Large Gallstones Warrant Surgery? ( 26857589 )
2016
15
Gallstone ileus associated with impaction at Meckel's diverticulum: Case report and literature review. ( 27933137 )
2016
16
Rat model of cholelithiasis with human gallstones implanted in cholestasis-induced virtual gallbladder. ( 27376020 )
2016
17
Living donor liver transplantation indicated for compensated liver cirrhosis with symptomatic gallstone diseases: report of two cases. ( 27215224 )
2016
18
Complicated gallstone disease: diagnosis and management of Mirizzi syndrome. ( 27585469 )
2016
19
To leave no stone unturned: cholelithiasis and subsequent gallstone ileus. ( 27154989 )
2016
20
Ultrathin choledochoscope improves outcomes in the treatment of gallstones and suspected choledocholithiasis. ( 27796141 )
2016
21
Mirizzi Syndrome Due to a Large Radiolucent Gallstone. ( 27151115 )
2016
22
The Sooner, the Better? The Importance of Optimal Timing of Cholecystectomy in Acute Cholecystitis: Data from the National Swedish Registry for Gallstone Surgery, GallRiks. ( 27649704 )
2016
23
Gallstone ileus following therapeutic endoscopic retrograde cholangiopancreatography. ( 27061125 )
2016
24
Gallstone Ileus in an Older Nursing Home Resident. ( 26889854 )
2016
25
Necrotizing Soft Tissue Infection Caused by Spilled Gallstones. ( 27144208 )
2016
26
Global methylation profiling to identify epigenetic signature of gallbladder cancer and gallstone disease. ( 27623942 )
2016
27
An Unusual Cause of Large-Bowel Obstruction: Cholecystocolonic Fistula and Gallstone Ileus. ( 27045353 )
2016
28
Gilbert syndrome acts as a risk factor of developing gallstone among I^ hemoglobinopathy tunisian patients. ( 26375741 )
2015
29
Hepatic expression of detoxification enzymes is decreased in human obstructive cholestasis due to gallstone biliary obstruction. ( 25798860 )
2015
30
Gallstone ileus without bilioenteric fistula years after bypass surgery for Crohn's disease. Case report and clues to etiology of a neglected cause of obstruction. ( 25770438 )
2015
31
The expression of hepatic carboxypeptidase E is decreased in patients with cholesterol gallstone. ( 26228366 )
2015
32
Cystic Duct Enhancement: A Useful CT Finding in the Diagnosis of Acute Cholecystitis Without Visible Impacted Gallstones. ( 26496546 )
2015
33
Gallstone Bezoar Following Cholecystogastric Fistula: a Rare Sequelae of Cholelithiasis. ( 27011578 )
2015
34
Is preoperative MRCP necessary for patients with gallstones? An analysis of the factors related to missed diagnosis of choledocholithiasis by preoperative ultrasound. ( 26577949 )
2015
35
Gallstone ileus inducing obstructive jaundice at the afferent loop of Roux-en-Y hepaticojejunostomy after bile duct cancer surgery: a case report. ( 26155282 )
2015
36
Perforated closed-loop obstruction secondary to gallstone ileus of the transverse colon: a rare entity. ( 25722913 )
2015
37
A simple case of gallstone ileus? ( 25589539 )
2015
38
Genetic variation in the cholesterol transporter NPC1L1, ischaemic vascular disease, and gallstone disease. ( 25841872 )
2015
39
Letter to the editor: gallstone ileus, volvulus, and intestinal perforation in a patient with cholecystotomy and choledochoduodenostomy: a case report. ( 26123700 )
2015
40
Influence of ApoE and FABP2 polymorphisms and environmental factors in the susceptibility to gallstone disease. ( 26019038 )
2015
41
Cholesterol Gallstones Larger Than 3 cm Appear to be Associated With Gallbladder Cancer: Identification of an High Risk Group of Patients That Could Benefit From Preventive Cholecystectomy. ( 25793627 )
2015
42
Variants and haplotypes in Flap endonuclease 1 and risk of gallbladder cancer and gallstones: a population-based study in China. ( 26668074 )
2015
43
Laparoscopic surgery is more advantageous than laparotomic surgery for treatment of hypersplenism with gallstones. ( 26091138 )
2015
44
Gallstone disease founded by ultrasonography in functional dyspepsia: prevalence and associated factors. ( 26379936 )
2015
45
Bouveret's Syndrome Resulting in Gallstone Ileus. ( 25707814 )
2015
46
GALLBLADDER CANCER AS INCIDENTAL FINDING IN TWO STAGE RESOLUTION OF GALLSTONE ILEUS. ( 26537153 )
2015
47
ABCB4 mutations underlie hormonal cholestasis but not pediatric idiopathic gallstones. ( 24914347 )
2014
48
Recurrent gallstone ileus: beware of the faceted stone. ( 25391822 )
2014
49
Colonic gallstone ileus: the rolling stones. ( 25323275 )
2014
50
Endoscopic ultrasound should be performed before endoscopic retrograde cholangiopancreatography in all patients with mild acute gallstone pancreatitis. ( 24326374 )
2014

Variations for Gallbladder Disease 1

UniProtKB/Swiss-Prot genetic disease variations for Gallbladder Disease 1:

71 (show all 30)
# Symbol AA change Variation ID SNP ID
1 ABCB4 p.Pro1168Ser VAR_023504 rs121918442
2 ABCB4 p.Phe165Ile VAR_043082
3 ABCB4 p.Met301Thr VAR_043083 rs72552779
4 ABCB4 p.Ile541Phe VAR_043092 rs66904256
5 ABCB4 p.Leu591Gln VAR_043096 rs72552776
6 ABCB4 p.Thr34Met VAR_073728 rs142794414
7 ABCB4 p.Arg47Gly VAR_073729
8 ABCB4 p.Leu71His VAR_073733 rs780641693
9 ABCB4 p.Leu73Val VAR_073734 rs8187788
10 ABCB4 p.Phe78Cys VAR_073735
11 ABCB4 p.Ser99Phe VAR_073736
12 ABCB4 p.Gly124Ser VAR_073737
13 ABCB4 p.Phe154Ser VAR_073739
14 ABCB4 p.Ala286Val VAR_073742 rs765478923
15 ABCB4 p.Arg406Gly VAR_073746
16 ABCB4 p.Asn510Ser VAR_073752 rs375315619
17 ABCB4 p.Ala511Thr VAR_073753
18 ABCB4 p.Glu513Lys VAR_073754
19 ABCB4 p.Arg545His VAR_073755
20 ABCB4 p.Arg549His VAR_073756 rs761238221
21 ABCB4 p.His589Thr VAR_073758
22 ABCB4 p.Thr593Met VAR_073760 rs571555115
23 ABCB4 p.Glu647Lys VAR_073762 rs972726699
24 ABCB4 p.Pro726Leu VAR_073766 rs141677867
25 ABCB4 p.Ser729Leu VAR_073768 rs970324585
26 ABCB4 p.Leu975Val VAR_073773 rs759787957
27 ABCB4 p.Arg1084Trp VAR_073775
28 ABCB4 p.Gly536Arg VAR_079611
29 ABCB4 p.Ser1183Leu VAR_079612
30 ABCB4 p.Gly1185Ser VAR_079613

ClinVar genetic disease variations for Gallbladder Disease 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCB4 NM_018849.2(ABCB4): c.1328_1329delAGinsCAA (p.Gln443Profs) indel Pathogenic rs387906528 GRCh37 Chromosome 7, 87072662: 87072663
2 ABCB4 NM_018849.2(ABCB4): c.1633C> G (p.Arg545Gly) single nucleotide variant Pathogenic rs397514620 GRCh37 Chromosome 7, 87069081: 87069081
3 ABCB4 NM_018849.2(ABCB4): c.3629C> G (p.Ser1210Ter) single nucleotide variant Pathogenic rs748842753 GRCh37 Chromosome 7, 87032476: 87032476

Expression for Gallbladder Disease 1

Search GEO for disease gene expression data for Gallbladder Disease 1.

Pathways for Gallbladder Disease 1

GO Terms for Gallbladder Disease 1

Sources for Gallbladder Disease 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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