GBD1
MCID: GLL024
MIFTS: 45

Gallbladder Disease 1 (GBD1)

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

Aliases & Classifications for Gallbladder Disease 1

MalaCards integrated aliases for Gallbladder Disease 1:

Name: Gallbladder Disease 1 58 76 13
Gallstones 76 44 45 64 17
Low Phospholipid-Associated Cholelithiasis 60 74
Cholelithiasis 76 74
Cholecystitis 76 74
Gbd1 58 76
Lpac 58 60
Cholelithiasis, Low Phospholipid-Associated; Lpac 58
Cholelithiasis, Low Phospholipid-Associated 58
Gallbladder Disease, Type 1 ) 41
Abcb4-Related Cholelithiasis 60
Cholecystolithiasis 74

Characteristics:

Orphanet epidemiological data:

60
low phospholipid-associated cholelithiasis
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adult;

OMIM:

58
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:

33

Classifications:

Orphanet: 60  
Rare hepatic diseases


Summaries for Gallbladder Disease 1

OMIM : 58 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 acalculous cholecystitis and emphysematous cholecystitis. An important gene associated with Gallbladder Disease 1 is ABCB4 (ATP Binding Cassette Subfamily B Member 4). Affiliated tissues include liver, heart and small intestine, and related phenotypes are jaundice and elevated hepatic transaminase

MedlinePlus : 44 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 : 76 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 : 64 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 top 50) (show all 565)
# Related Disease Score Top Affiliating Genes
1 acalculous cholecystitis 12.6
2 emphysematous cholecystitis 12.6
3 xanthogranulomatous cholecystitis 12.4
4 cholestasis with gallstone, ataxia, and visual disturbance 12.1
5 clonorchiasis 11.3
6 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 11.3
7 cholecystitis 11.2
8 ovalocytosis, southeast asian 11.1
9 dicrocoeliasis 11.1
10 opisthorchiasis 11.1
11 spherocytosis, type 1 11.0
12 overhydrated hereditary stomatocytosis 11.0
13 erythrocytosis, familial, 8 11.0
14 duodenal atresia 11.0
15 beta-thalassemia, dominant inclusion body type 11.0
16 gallbladder disease 4 11.0
17 spherocytosis, type 2 11.0
18 dehydrated hereditary stomatocytosis 2 11.0
19 cholecystolithiasis 11.0
20 protoporphyria, erythropoietic, 1 11.0
21 anemia, congenital dyserythropoietic, type ii 11.0
22 protoporphyria, erythropoietic, x-linked 11.0
23 somatostatinoma 11.0
24 bile duct disease 11.0
25 pancreatitis, pediatric 11.0
26 glucose phosphate isomerase deficiency 11.0
27 choledocholithiasis 10.5
28 sickle cell disease 10.4
29 pancreatitis 10.4
30 sickle cell anemia 10.4
31 acute cholangitis 10.3
32 liver disease 10.2
33 thalassemia 10.2
34 liver cirrhosis 10.2
35 typhoid fever 10.2
36 systemic lupus erythematosus 10.2
37 lupus erythematosus 10.2
38 cholestasis 10.2
39 cholelithiasis 10.2
40 leptospirosis 10.2
41 hepatitis a 10.2
42 dengue virus 10.1
43 pancreatic cancer 10.1
44 acute pancreatitis 10.1
45 gallbladder cancer 10.1
46 situs inversus 10.1
47 eosinophilic granulomatosis with polyangiitis 10.1
48 dengue disease 10.1
49 acquired immunodeficiency syndrome 10.1
50 appendicitis 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

Human phenotypes related to Gallbladder Disease 1:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 jaundice 33 occasional (7.5%) HP:0000952
2 elevated hepatic transaminase 33 HP:0002910
3 hepatic fibrosis 33 HP:0001395
4 cholelithiasis 33 HP:0001081
5 pancreatitis 33 HP:0001733
6 cholecystitis 33 HP:0001082
7 elevated alkaline phosphatase 33 HP:0003155
8 cholesterol gallstones 33 HP:0011980
9 cholangitis 33 HP:0030151

Symptoms via clinical synopsis from OMIM:

58
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

Drugs & Therapeutics for Gallbladder Disease 1

PubMedHealth treatment related to Gallbladder Disease 1: 64

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 74 / NDF-RT 52 :


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:

42
Liver, Heart, Small Intestine, Kidney, Testes, Colon, Prostate

Publications for Gallbladder Disease 1

Articles related to Gallbladder Disease 1:

(show top 50) (show all 2577)
# Title Authors Year
1
Low-Phospholipid Associated Cholelithiasis (LPAC) syndrome: A synthetic review. ( 30922600 )
2019
2
Reduced Elective Operation Rates and High Patient Satisfaction After the Implementation of Decision Aids in Patients with Gallstones or an Inguinal Hernia. ( 31011818 )
2019
3
Dropped gallstones causing abdominal wall abscess and pleural empyema: a case series. ( 30373501 )
2019
4
Risk of gallstones in patients with obstructive sleep apnea: a nationwide observational cohort study. ( 29980983 )
2019
5
Gallstones and cholecystectomy in relation to risk of liver cancer. ( 29738324 )
2019
6
Moderate, but not heavy, tea drinking decreased the associated risk of gallstones in a Taiwanese population. ( 30135551 )
2019
7
Ursodeoxycholic Acid for 6 Months After Bariatric Surgery Is Impacting Gallstone Associated Morbidity in Patients with Preoperative Asymptomatic Gallstones. ( 30604076 )
2019
8
Meta-analysis of single-stage versus two-staged management for concomitant gallstones and common bile duct stones. ( 30618417 )
2019
9
Examination under anaesthesia of the rectum for removal of gallstones. ( 30696653 )
2019
10
Ursodeoxycholic acid in the prevention of gallstones in patients subjected to Roux-en-Y gastric bypass1. ( 30785510 )
2019
11
Efficacy of Antibiotic Agents after Spill of Bile and Gallstones during Laparoscopic Cholecystectomy. ( 30794106 )
2019
12
Bidirectional association between gallstones and renal stones: Two longitudinal follow-up studies using a national sample cohort. ( 30796254 )
2019
13
The best approach to treat concomitant gallstones and common bile duct stones. Is ERCP still needed? ( 30799627 )
2019
14
Ultrastructural analysis of human gallstones using synchrotron radiation ╬╝CT. ( 30799788 )
2019
15
Adolescent gallstones-need for early intervention in symptomatic idiopathic gallstones. ( 30806765 )
2019
16
Recurrence of Citrobacter koseri-associated Intra-abdominal Infection 2 Years after Spilled Gallstones during Laparoscopic Cholecystectomy. ( 30814836 )
2019
17
Gallstone Abscess due to Spilled Gallstones after Laparoscopic Cholecystectomy. ( 30823965 )
2019
18
An unusual site of gallstones five years after laparoscopic cholecystectomy. ( 30875526 )
2019
19
The story of gallstones and their treatment. ( 30963808 )
2019
20
Pain after cholecystectomy for symptomatic gallstones. ( 31036335 )
2019
21
Restrictive strategy versus usual care for cholecystectomy in patients with gallstones and abdominal pain (SECURE): a multicentre, randomised, parallel-arm, non-inferiority trial. ( 31036336 )
2019
22
Comparative analysis of serum lipid profiles in patients with and without gallstones: A prospective cross-sectional study. ( 31065353 )
2019
23
Gallbladder perforation in a patient with alcoholic liver cirrhosis and asymptomatic gallstones: A case report. ( 29718836 )
2018
24
Acute cholecystitis induced by surgery for levodopa-carbidopa intestinal gel therapy: Possible relationship to pre-existing gallstones. ( 29661695 )
2018
25
Pearl-White Gallstones Causing Choledocholithiasis. ( 29392151 )
2018
26
Gallstones and incident colorectal cancer in a large pan-European cohort study. ( 30585640 )
2018
27
Nonalcoholic fatty liver disease, cholesterol gallstones, and cholecystectomy: new insights on a complex relationship. ( 29266009 )
2018
28
Fitz-Hugh-Curtis Syndrome: A Diagnosis to Consider in a Woman with Right Upper Quadrant Abdominal Pain without Gallstones. ( 30756005 )
2018
29
Incidence of gallstones after gastric resection for gastric cancer: a nationwide claims-based study. ( 30079325 )
2018
30
Gallstones were associated with the gastrointestinal adverse events of cinacalcet in hemodialysis patients with secondary hyperparathyroidism. ( 29301445 )
2018
31
Association between cholesterol gallstones and testosterone replacement therapy in a patient with primary hypogonadism. ( 29656844 )
2018
32
Shared decision-making during surgical consultation for gallstones at a safety-net hospital. ( 29223328 )
2018
33
In vitro Salmonella typhi biofilm formation on gallstones and its disruption by Manuka honey. ( 29348094 )
2018
34
Calcified Spleen and Gallstones. ( 29365300 )
2018
35
Clinical and biological study of the 31 cases of gallstones. ( 29623887 )
2018
36
Gallstones: Watch and wait, or intervene? ( 29634468 )
2018
37
Genetic polymorphism of sterol transporters in children with future gallstones. ( 29764733 )
2018
38
Spilled gallstones simulating peritoneal carcinomatosis: A case report and literature review. ( 29885915 )
2018
39
Unraveling the impact of chronic exposure to metal pollution through human gallstones. ( 29929220 )
2018
40
Dropped gallstones mimicking peritoneal metastasis: A case report. ( 29988777 )
2018
41
Total Hip Lithiasis: A Rare Sequelae of Spilled Gallstones. ( 30013805 )
2018
42
Classification of gallstones using Fourier-transform infrared spectroscopy and photography. ( 30038795 )
2018
43
Metagenomics of pigmented and cholesterol gallstones: the putative role of bacteria. ( 30046045 )
2018
44
Spilled Gallstones Silent for a Decade: A Case Report and Review of Literature. ( 30202664 )
2018
45
Two findings of gallstones in archaeological mummies from Colombia. ( 30292985 )
2018
46
"Aged" autopsy gallstones simulating dry bone context: A morphological, histological and SEM-EDS analysis. ( 30292986 )
2018
47
Crow's feet appearance: Fissured gallstones. ( 30309092 )
2018
48
Gallstones and Biliary Colic. ( 30326127 )
2018
49
Recent advances in understanding and managing cholesterol gallstones. ( 30345010 )
2018
50
Ursodeoxycholic acid combined with percutaneous transhepatic balloon dilation for management of gallstones after elimination of common bile duct stones. ( 30356997 )
2018

Variations for Gallbladder Disease 1

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

76 (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 rs141197055
11 ABCB4 p.Ser99Phe VAR_073736 rs140821740
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 rs125788715
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 rs126292284
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 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCB4 NM_000443.3(ABCB4): c.959C> T (p.Ser320Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs72552778 GRCh37 Chromosome 7, 87076396: 87076396
2 ABCB4 NM_000443.3(ABCB4): c.959C> T (p.Ser320Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs72552778 GRCh38 Chromosome 7, 87447080: 87447080
3 ABCB4 NM_000443.3(ABCB4): c.523A> G (p.Thr175Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs58238559 GRCh37 Chromosome 7, 87082273: 87082273
4 ABCB4 NM_000443.3(ABCB4): c.523A> G (p.Thr175Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs58238559 GRCh38 Chromosome 7, 87452957: 87452957
5 ABCB4 NM_018849.2(ABCB4): c.3502C> T (p.Pro1168Ser) single nucleotide variant Uncertain significance rs121918442 GRCh37 Chromosome 7, 87035609: 87035609
6 ABCB4 NM_018849.2(ABCB4): c.3502C> T (p.Pro1168Ser) single nucleotide variant Uncertain significance rs121918442 GRCh38 Chromosome 7, 87406293: 87406293
7 ABCB4 NM_018849.2(ABCB4): c.1328_1329delAGinsCAA (p.Gln443Profs) indel Pathogenic rs387906528 GRCh37 Chromosome 7, 87072662: 87072663
8 ABCB4 NM_018849.2(ABCB4): c.1328_1329delAGinsCAA (p.Gln443Profs) indel Pathogenic rs387906528 GRCh38 Chromosome 7, 87443346: 87443347
9 ABCB4 NM_000443.3(ABCB4): c.1769G> A (p.Arg590Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs45575636 GRCh37 Chromosome 7, 87060844: 87060844
10 ABCB4 NM_000443.3(ABCB4): c.1769G> A (p.Arg590Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs45575636 GRCh38 Chromosome 7, 87431528: 87431528
11 ABCB4 NM_018849.2(ABCB4): c.1633C> G (p.Arg545Gly) single nucleotide variant Pathogenic rs397514620 GRCh37 Chromosome 7, 87069081: 87069081
12 ABCB4 NM_018849.2(ABCB4): c.1633C> G (p.Arg545Gly) single nucleotide variant Pathogenic rs397514620 GRCh38 Chromosome 7, 87439765: 87439765
13 ABCB4 NM_018849.2(ABCB4): c.101C> T (p.Thr34Met) single nucleotide variant Uncertain significance rs142794414 GRCh37 Chromosome 7, 87101971: 87101971
14 ABCB4 NM_018849.2(ABCB4): c.101C> T (p.Thr34Met) single nucleotide variant Uncertain significance rs142794414 GRCh38 Chromosome 7, 87472655: 87472655
15 ABCB4 NM_018849.2(ABCB4): c.217C> G (p.Leu73Val) single nucleotide variant Uncertain significance rs8187788 GRCh37 Chromosome 7, 87092143: 87092143
16 ABCB4 NM_018849.2(ABCB4): c.217C> G (p.Leu73Val) single nucleotide variant Uncertain significance rs8187788 GRCh38 Chromosome 7, 87462827: 87462827
17 ABCB4 NM_018849.2(ABCB4): c.3136C> T (p.Arg1046Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 7, 87037496: 87037496
18 ABCB4 NM_018849.2(ABCB4): c.3136C> T (p.Arg1046Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 7, 87408180: 87408180
19 ABCB4 NM_018849.2(ABCB4): c.2932T> C (p.Ser978Pro) single nucleotide variant Likely pathogenic GRCh37 Chromosome 7, 87038701: 87038701
20 ABCB4 NM_018849.2(ABCB4): c.2932T> C (p.Ser978Pro) single nucleotide variant Likely pathogenic GRCh38 Chromosome 7, 87409385: 87409385

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

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