GBD1
MCID: GLL024
MIFTS: 53

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 56 73 29 13 6
Gallstones 73 42 43 62 17
Low Phospholipid-Associated Cholelithiasis 58 71
Cholelithiasis 73 71
Cholecystitis 73 71
Gbd1 56 73
Lpac 56 58
Cholelithiasis, Low Phospholipid-Associated; Lpac 56
Cholelithiasis, Low Phospholipid-Associated 56
Abcb4-Related Cholelithiasis 58
Gallbladder Disease, Type 1 39
Cholecystolithiasis 71

Characteristics:

Orphanet epidemiological data:

58
low phospholipid-associated cholelithiasis
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adult;

OMIM:

56
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: 58  
Rare hepatic diseases


External Ids:

OMIM 56 600803
OMIM Phenotypic Series 56 PS600803
UMLS via Orphanet 72 C2609268
Orphanet 58 ORPHA69663
UMLS 71 C0008325 C0008350 C0947622 more

Summaries for Gallbladder Disease 1

OMIM : 56 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 cholestasis with gallstone, ataxia, and visual disturbance and gallbladder disease. An important gene associated with Gallbladder Disease 1 is ABCB4 (ATP Binding Cassette Subfamily B Member 4). The drugs Dopamine and Esketamine have been mentioned in the context of this disorder. Affiliated tissues include liver, testes and kidney, and related phenotypes are jaundice and elevated hepatic transaminase

MedlinePlus : 42 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 : 73 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 : 62 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 929)
# Related Disease Score Top Affiliating Genes
1 cholestasis with gallstone, ataxia, and visual disturbance 12.4
2 gallbladder disease 11.7
3 cholecystolithiasis 11.5
4 clonorchiasis 11.5
5 duodenal atresia 11.5
6 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 11.4
7 ovalocytosis, southeast asian 11.2
8 anemia, congenital dyserythropoietic, type ii 11.2
9 dicrocoeliasis 11.2
10 spherocytosis, type 1 11.1
11 overhydrated hereditary stomatocytosis 11.1
12 beta-thalassemia, dominant inclusion body type 11.1
13 gallbladder disease 4 11.1
14 spherocytosis, type 2 11.1
15 dehydrated hereditary stomatocytosis 2 11.1
16 protoporphyria, erythropoietic, 1 11.1
17 protoporphyria, erythropoietic, x-linked 11.1
18 congenital dyserythropoietic anemia 11.1
19 somatostatinoma 11.1
20 congenital hepatic fibrosis 11.1
21 pancreatitis, pediatric 11.1
22 glucose phosphate isomerase deficiency 11.1
23 cholecystitis 11.0
24 choledocholithiasis 10.8
25 liver cirrhosis 10.6
26 cholestasis 10.5
27 acute pancreatitis 10.5
28 pancreatitis 10.5
29 cholelithiasis 10.5
30 ileus 10.5
31 sickle cell disease 10.5
32 gallbladder cancer 10.5
33 sickle cell anemia 10.5
34 obstructive jaundice 10.4
35 biliary tract disease 10.4
36 gastrointestinal ulceration, recurrent, with dysfunctional platelets 10.4
37 vasculitis 10.4
38 deficiency anemia 10.4
39 thalassemia 10.4
40 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.4
41 intestinal obstruction 10.4
42 peptic ulcer disease 10.4
43 duodenal ulcer 10.3
44 peritonitis 10.3
45 hepatitis a 10.3
46 bilirubin metabolic disorder 10.3
47 cholangiocarcinoma 10.3
48 intrahepatic cholangiocarcinoma 10.3
49 liver disease 10.3
50 leptospirosis 10.3

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:

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

Symptoms via clinical synopsis from OMIM:

56
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

PubMed Health treatment related to Gallbladder Disease 1: 62

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.

Drugs for Gallbladder Disease 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 259)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
2
Esketamine Approved, Investigational Phase 4 33643-46-8
3
Droperidol Approved, Vet_approved Phase 4 548-73-2 3168
4
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
5
Flurbiprofen Approved, Investigational Phase 4 5104-49-4 3394
6
Nefopam Approved, Investigational Phase 4 13669-70-0
7
Temocillin Approved, Investigational Phase 4 66148-78-5
8
Levobupivacaine Approved, Investigational Phase 4 27262-47-1 92253
9
Ondansetron Approved Phase 4 99614-02-5 4595
10
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
11
Metronidazole Approved Phase 4 443-48-1 4173
12
chenodeoxycholic acid Approved Phase 4 474-25-9 10133
13
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
14
Remifentanil Approved Phase 4 132875-61-7 60815
15
tannic acid Approved Phase 4 1401-55-4
16
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
17
Granisetron Approved, Investigational Phase 4 109889-09-0 3510
18
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
19
Morphine Approved, Investigational Phase 4 57-27-2 5288826
20
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
21
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
22
Esmolol Approved Phase 4 103598-03-4, 81147-92-4 59768
23
Ephedrine Approved Phase 4 299-42-3 9294
24
Pseudoephedrine Approved Phase 4 90-82-4 7028
25
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456
26
Atropine Approved, Vet_approved Phase 4 51-55-8, 5908-99-6 174174
27
Ceftriaxone Approved Phase 4 73384-59-5 5361919 5479530
28
Tigecycline Approved Phase 4 220620-09-7 5282044
29
Etoricoxib Approved, Investigational Phase 4 202409-33-4 123619
30
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
31
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
32 Hydrotalcite Approved, Experimental, Investigational Phase 4 12304-65-3
33
Sucralfate Approved Phase 4 54182-58-0
34
Bezafibrate Approved, Investigational Phase 4 41859-67-0 39042
35
Fosaprepitant Approved Phase 4 172673-20-0 219090
36
Palonosetron Approved, Investigational Phase 4 135729-56-5, 119904-90-4 148211
37
Aprepitant Approved, Investigational Phase 4 170729-80-3 6918365 151165
38
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
39
Ursodeoxycholic acid Approved, Investigational Phase 4 128-13-2 31401
40
Ampicillin Approved, Vet_approved Phase 4 69-53-4 6249
41
Ciprofloxacin Approved, Investigational Phase 4 85721-33-1 2764
42
Sultamicillin Approved, Investigational Phase 4 76497-13-7
43
Vitamin C Approved, Nutraceutical Phase 4 50-81-7 5785 54670067
44
Aspartic acid Approved, Nutraceutical Phase 4 56-84-8 5960
45
Tauroursodeoxycholic acid Experimental, Investigational Phase 4 14605-22-2 12443252
46 Flurbiprofen axetil Investigational Phase 4 91503-79-6
47 Anti-Bacterial Agents Phase 4
48 Antiviral Agents Phase 4
49 Dopamine Agents Phase 4
50 Excitatory Amino Acid Antagonists Phase 4

Interventional clinical trials:

(show top 50) (show all 450)
# Name Status NCT ID Phase Drugs
1 DOLCE Study: Day-care Versus Overnight-stay Laparoscopic Cholecystectomy Randomized, Controlled Trial Unknown status NCT01052727 Phase 4
2 Randomised Controlled Trail of Warmed Humidified Insufflation Versus Cold Non-Humidified Insufflation in Elective Laparoscopic Cholecystectomies: Does This Reduce Post-Operative Pain? Unknown status NCT00792389 Phase 4
3 The Discovery of the Double Sphincter in Gallbladder Unknown status NCT01998451 Phase 4 Tauroursodeoxycholic acid
4 Optimal Multimodal Analgesia in Laparoscopic Cholecystectomy Unknown status NCT00209885 Phase 4 Gabapentin;S-ketamine;Lidocaine;Droperidol
5 Closed-Loop Target Controlled Infusion of Propofol and Remifentanil Guided by Narcotrend Index in Laparoscopic Cholecystectomy Unknown status NCT02114437 Phase 4
6 Effects of Calot's Triangle Block for Postoperative Analgesia in Patients Undergoing Laparoscopic Cholecystectomy: a Prospective, Randomized, Double-blind, Controlled, Clinical Trial Unknown status NCT02300480 Phase 4
7 Laparo-endoscopic Single Site Cholecystectomy Versus Standard Laparoscopic Cholecystectomy Unknown status NCT01339325 Phase 4
8 THE USE OF FLOSEAL GELATIN MATRIX FOR THE HAEMOSTASIS DURING LAPAROSCOPIC CHOLECYSTECTOMY FOR ACUTE CHOLECYSTITIS; EFFICACY AND SAFETY EVALUATED IN A MULTICENTER, PROSPECTIVE, OPEN LABEL TRIAL WITH AN HISTORICAL CONTROL GROUP. (G.L.A. STUDY: GELATIN Matrix in Laparoscopic Cholecystectomy for Acute Cholecystitis) Unknown status NCT01126281 Phase 4
9 The CHOLEGAS Study: Multicentric Randomized, Double-Blinded, Controlled Trial of Gastrectomy Plus Prophylactic Cholecystectomy Versus Gastrectomy Only, in Adults Submitted to Gastric Cancer Surgery With Curative Intent. Unknown status NCT00757640 Phase 4
10 Effect of Intraoperative Nefopam on Acute Pain After Remifentanil Based Anesthesia Unknown status NCT02493231 Phase 4 Nefopam;Ketamine;Saline
11 Endoscopic Treatment of Difficult Bile Duct Stones: Use of Direct Visualization System ("Spyglass Direct Visualization System") Associated With Electrohydraulic Lithotripsy (EHL) X Hydrostatic Balloon Dilation of the Major Duodenal Papilla Unknown status NCT02703077 Phase 4
12 Metabolic, Cardiovascular and Body Composition Effects of Sandostatin LAR® Therapy of Acromegaly, Effect of Reduction of Serum Insulin-like Growth Factor 1 (IGF-1) Levels Into a New Normative Range Unknown status NCT01424241 Phase 4 Sandostatin LAR
13 Temocillin Pharmacokinetics in Paediatrics Unknown status NCT02260102 Phase 4 Temocillin
14 Study of Oxidative Stress in Standard Laparoscopic vs Single Port Cholecystectomy for Uncomplicated Cholelithiasis (Lap vs SILS) Completed NCT01211743 Phase 4
15 Effects of Intraperitoneal Levobupivacaine on Pain After Laparoscopic Cholecystectomy: A Prospective, Randomized, Double-Blinded Study Completed NCT00836316 Phase 4 levobupivacaine
16 Effect of Acupuncture on Postoperative Nausea and Vomiting Completed NCT00674713 Phase 4 Ondansetron;Physiological saline solution;Ondansetron;Physiological saline solution
17 Studie Naar De Effectiviteit Van Ursodeoxycholzuur Ter Preventie Van Galsteen-Gerelateerde Klachten Bij patiënten in Afwachting Van Een Cholecystectomie Completed NCT00161083 Phase 4 ursodeoxycholic acid
18 Combined Preincisional Infiltration and Intraperitoneal Instillation of Levobupivacaine for Postoperative Pain Reduction After Laparoscopic Cholecystectomy; A Double-blind Placebo-controlled Randomised Clinical Trial Completed NCT01199406 Phase 4 Levobupivacaine
19 Laparoscopic Guided Regional Analgesia (LaGRA) Reduces Post Operative Pain After Laparoscopic Cholecystectomy - a Randomised, Controlled Trial. Completed NCT03394807 Phase 4 Levobupivacaine;Placebo
20 Changes in Bile Acid Homeostasis and Stool Habits After Cholecystectomy Completed NCT03168555 Phase 4 chenodeoxycholic acid
21 Robotic Assisted Versus Laparoscopic Cholecystectomy - Completed NCT00562900 Phase 4
22 Effect of Endovenous Lidocaine on Analgesia and Serum Cytokines Concentration: Randomized and Double-blind Trial Completed NCT02363699 Phase 4 Lidocaine;Saline solution
23 Cholecystocholangiography Versus Cystic Duct Cholangiography During Laparoscopic Cholecystectomy: A Prospective Controlled Randomized Trial Completed NCT01103570 Phase 4
24 Dual-Loop Target Controlled Infusion of Propofol and Remifentanil Guided by Narcotrend Index in Laparoscopic Cholecystectomy Completed NCT02116985 Phase 4
25 Granisetron Effect on Hemodynamic Changes and Intubation Condition During Anesthesia Induction in Laparoscopic Cholecystectomy Completed NCT03180229 Phase 4 Granisetron 1 Mg/mL Intravenous Solution
26 Extended Antibiotic Therapy in Postoperative of Laparoscopic Cholecystectomy Due to Acute Cholecystitis. Is it Necessary? Completed NCT02057679 Phase 4 Amoxicillin clavulanic;Placebo
27 Minilaparoscopic Versus Conventional Laparoscopic Cholecystectomy: A Randomized Trial Completed NCT01397565 Phase 4
28 Multi-Port vs. Single-port Cholecystectomy Completed NCT01104727 Phase 4
29 Intraoperative Lidocaine Infusion vs. Esmolol Infusion for Postoperative Analgesia in Laparoscopic Cholecystectomy: a Randomized Clinical Trial Completed NCT02327923 Phase 4 Lidocaine;Esmolol;Paracetamol;Lidocaine;Propofol;Fentanyl;Vecuronium;Atropine;Ephedrine;Morphine;Ketorolac;Ondansetron;Bupivacaine;Tramadol;Neostigmine;Glycopyrrolate
30 A Multicenter, Open-Label, Randomized Comparative Study of Tigecycline vs Ceftriaxone Sodium Plus Metronidazole for the Treatment of Hospitalized Subjects With Complicated Intra-abdominal Infection Completed NCT00195351 Phase 4 tigecycline;ceftriaxone sodium + metronidazole
31 Pain Post Abdominal Laparoscopy Prevention With Arcoxia Completed NCT00565682 Phase 4 etoricoxib 120 mg
32 Covered Versus Uncovered Metal Stents for Management of Distal Malignant Biliary Obstruction? Results of a Randomized Prospective Study. Completed NCT00280709 Phase 4
33 Effect of Rowachol on Prevention of Postcholecystectomy Syndrome After Laparoscopic Cholecystectomy Completed NCT01765465 Phase 4 Rowachol;Placebo
34 The Role of a Single Oral Dose (2g) of Vitamin C in Reducing Intensity of Pain and Opioids Consumption in Patients Undergoing Laparoscopic Cholecystectomy. A Randomized, Double-blinded, Placebo-controlled Study Completed NCT01322061 Phase 4 Ascorbic Acid
35 A Multicenter, Open-Label, Randomized Comparative Study of Tigecycline vs Ceftriaxone Sodium Plus Metronidazole for the Treatment of Hospitalized Subjects With Complicated Intra-abdominal Infection Completed NCT00230971 Phase 4 tigecycline;ceftriaxone plus metronidazole
36 Effect of Deep Versus Moderate Neuromuscular Blockade on Peak Airway Pressures During Elective Laparoscopic Surgery Completed NCT02812186 Phase 4 Rocuronium
37 DGT Versus TPS in Patients With Initial PD Cannulation by Chance; Prospective Randomized Multi-center Study Completed NCT01744847 Phase 4
38 Balloon Catheter Versus Basket Catheter for Endoscopic Bile Duct Stone Extraction in Patients With Periampullary Diverticulum:a Multicenter Randomized Trial Completed NCT02909595 Phase 4
39 Opioid-free Total Intravenous Anesthesia With Propofol, Dexmedetomidine and Lidocaine Infusions for Laparoscopic Cholecystectomy; Comparison With Propofol, Remifentanil Infusions Completed NCT01833819 Phase 4 Dexmedetomidine and lidocaine;Remifentanil
40 A Comparison of Effectiveness of Oral Sucrolfate, Alginate and Hydrotalcide in Dispeptic Pain Treatment: Randomized Trial Completed NCT03635372 Phase 4 Alginate;Sucralfate;Hydrotalcite
41 Early Effect Of Bezafibrate On Fibrinogen Levels, Inflammatory Response And Clinical Impact, In Patients With ST Elevation Acute Myocardial Infarction Completed NCT02291796 Phase 4 Bezafibrate
42 All the Phases Study Will be Operated by the Department of Hepatobiliary Surgery, The Affiliated Hospital of Guiyang Medical College Recruiting NCT01822262 Phase 4
43 COMPARATIVE STUDY BETWEEN PALONOSETRON AND FOSAPREPITANT IN THE PROFILAXIA OF POSTOPERATIVE NAUSEA AND VOMITING IN WOMEN SUBMITTED TO VIDEOLAPAROSCOPIC COLECISTECTOMIES Recruiting NCT03586817 Phase 4 Palonosetron;Fosaprepitant
44 COMPARISON OF INTRAOPERATIVE TRANSVERSUS ABDOMINIS PLANE BLOCK, LOCAL ANESTHESIA APPLICATION TO THE PORT SITES AND INTRAPERITONEAL LOCAL ANESTHETIC APPLICATIONS IN POSTOPERATIVE PAIN MANAGEMENT IN LAPAROSCOPIC CHOLECYSTECTOMY PATIENTS Active, not recruiting NCT03790007 Phase 4 Bupivacaine
45 Is an Antibiotic Prescription Required After Laparoscopic Cholecystectomy for Acute Calculous Cholecystitis? Not yet recruiting NCT04290104 Phase 4 1gr oral ampicillin/sulbactam group
46 Ciprofloxacin, Ampicillin-sulbactam and Placebo Prophylaxis in Laparoscopic Cholecystectomy. A Randomized Controlled Study Terminated NCT01888822 Phase 4 Ciprofloxacin;Ampicillin-sulbactam;Placebo
47 Biliary Lithotripsy in Combination With Actigall Versus Actigall Monotherapy for the Treatment of Symptomatic Cholesterol Gallstones Terminated NCT00042549 Phase 4 ursodiol
48 The Role of Ursodeoxycholic Acid in Treatment of Gallstones in Hemolytic Disorders Terminated NCT02472509 Phase 4 Ursodeoxycholic Acid
49 Use of IV Acetaminophen Intraoperatively in Obese Patients at Risk for Obstructive Sleep Apnea Undergoing Laparoscopic Cholecystectomy Withdrawn NCT02056678 Phase 4 acetaminophen, IV preparation
50 Thiopurine Induced Pancreatitis in IBD Patients Withdrawn NCT02281799 Phase 4 Azathioprine

Search NIH Clinical Center for Gallbladder Disease 1

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Ursodiol

Cochrane evidence based reviews: gallstones

Genetic Tests for Gallbladder Disease 1

Genetic tests related to Gallbladder Disease 1:

# Genetic test Affiliating Genes
1 Gallbladder Disease 1 29 ABCB4

Anatomical Context for Gallbladder Disease 1

MalaCards organs/tissues related to Gallbladder Disease 1:

40
Liver, Testes, Kidney, Small Intestine, Colon, Pancreas, Heart

Publications for Gallbladder Disease 1

Articles related to Gallbladder Disease 1:

(show top 50) (show all 9648)
# Title Authors PMID Year
1
ABCB4 heterozygous gene mutations associated with fibrosing cholestatic liver disease in adults. 6 56
18482588 2008
2
MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis. 6 56
11313316 2001
3
A variant of the SLC10A2 gene encoding the apical sodium-dependent bile acid transporter is a risk factor for gallstone disease. 56 61
19823678 2009
4
Identification of cholelithogenic enterohepatic helicobacter species and their role in murine cholesterol gallstone formation. 61 56
15825083 2005
5
Single and interacting QTLs for cholesterol gallstones revealed in an intercross between mouse strains NZB and SM. 56 61
15834632 2005
6
Prospective study of abdominal adiposity and gallstone disease in US men. 56 61
15213025 2004
7
Lith1, a major gene affecting cholesterol gallstone formation among inbred strains of mice. 61 56
7644485 1995
8
High familial prevalence of gallstones in the first-degree relatives of gallstone patients. 61 56
7601405 1995
9
Genetics and epidemiology of gallbladder disease in New World native peoples. 61 56
6517051 1984
10
Increased risk of gallstones after appendectomy: A longitudinal follow-up study using a national sample cohort. 42 61
32443372 2020
11
First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis. 56
21989363 2012
12
ABCB4 gene mutations and single-nucleotide polymorphisms in women with intrahepatic cholestasis of pregnancy. 6
19584064 2009
13
Genetic and environmental influences on symptomatic gallstone disease: a Swedish study of 43,141 twin pairs. 56
15747383 2005
14
Association of the presence of Helicobacter in gallbladder tissue with cholelithiasis and cholecystitis. 56
14662950 2003
15
ABCB4 gene mutation-associated cholelithiasis in adults. 56
12891548 2003
16
New quantitative trait loci that contribute to cholesterol gallstone formation detected in an intercross of CAST/Ei and 129S1/SvImJ inbred mice. 56
12837957 2003
17
Genetic background of cholesterol gallstone disease. 56
12527402 2003
18
Hyperinsulinemia, dyslipidemia, and obesity as risk factors for hospitalized gallbladder disease. A prospective study. 56
11880221 2002
19
Chromosomal organization of candidate genes involved in cholesterol gallstone formation: a murine gallstone map. 56
11208732 2001
20
Biliary lipid composition in monozygotic and dizygotic pairs of twins. 56
2612989 1989
21
Lithogenic bile in siblings of young women with cholelithiasis. 56
4635568 1972
22
A Single-Center Experience with Minimally Invasive Transgastric ERCP in Patients with Previous Gastric Bypass: Lessons Learned and Technical Considerations. 42
32391753 2020
23
Acute Care Surgery Model Leads to Shorter Length of Stay in Mild Gallstone Pancreatitis. 42
32391774 2020
24
Meta-analysis of single-stage versus two-staged management for concomitant gallstones and common bile duct stones. 61
30618417 2020
25
Preliminary study on the correlation between the trace Mn2+ and the calcite polymorph in gallstones containing calcium carbonate from the northeast China via electron spin resonance. 61
32244148 2020
26
Clinical and Practice Variations in Pediatric Acute Recurrent or Chronic Pancreatitis: Report From the INSPPIRE Study. 61
32079978 2020
27
A Cost-Utility Study of Laparoscopic Cholecystectomy for the Treatment of Symptomatic Gallstones. 61
31144191 2020
28
The natural progression of a fistulizing gallstone resulting in massive gastrointestinal hemorrhage and Bouveret syndrome, a rare case. 61
31654232 2020
29
Altered absorptive function in the gall bladder during cholesterol gallstone formation is associated with abnormal NHE3 complex formation. 61
32557227 2020
30
Acute pancreatitis induced by Tadalafil: a case report. 61
31797202 2020
31
Cost effectiveness of intraoperative laparoscopic ultrasound for suspected choledocholithiasis; outcomes from a specialist benign upper gastrointestinal unit. 61
32538107 2020
32
Gallstone Disease and Microbiome. 61
32498344 2020
33
Outcome of acute pancreatitis in octogenarians: A retrospective study. 61
32514454 2020
34
Utility of ultrasound after a negative CT abdomen and pelvis in the emergency department. 61
32563722 2020
35
Ceftriaxone-associated biliary pseudolithiasis in children: do we know enough? 61
32492204 2020
36
Crystalline pathologies in the human body: first steps of pathogenesis. 61
32540796 2020
37
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Clinical practice of acute pancreatitis in Japan: An analysis of nationwide epidemiological survey in 2016. 61
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Associations between nephrolithiasis and diabetes mellitus, hypertension and gallstones: a meta-analysis of cohort studies. 61
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Analysis of stones formed in the human gall bladder and kidney using advanced spectroscopic techniques. 61
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A novel GPER antagonist protects against the formation of estrogen-induced cholesterol gallstones in female mice. 61
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Upper Gastrointestinal Bleeding With Hemobilia Caused by Gallstones. 61
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Perioperative outcomes of the patients treated using laparoscopic cholecystectomy after emergent endoscopic retrograde cholangiopancreatography for bile duct stones: Does timing matter? 61
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A unusual case of multifocal pyogenic abscess formation following ERCP procedure. 61
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Evidence-Based Management of Calculous Biliary Disease for the Acute Care Surgeon. 61
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Depletion of hepatic forkhead box O1 does not affect cholelithiasis in male and female mice. 61
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Biloma: A Rare Manifestation of Spontaneous Bile Leak. 61
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Variations for Gallbladder Disease 1

ClinVar genetic disease variations for Gallbladder Disease 1:

6 (show all 12) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ABCB4 NM_000443.4(ABCB4):c.3136C>T (p.Arg1046Ter)SNV Pathogenic 587488 rs759202962 7:87037496-87037496 7:87408180-87408180
2 ABCB4 NM_000443.4(ABCB4):c.1633C>G (p.Arg545Gly)SNV Pathogenic 39841 rs397514620 7:87069081-87069081 7:87439765-87439765
3 ABCB4 NM_000443.4(ABCB4):c.1328_1329delinsCAA (p.Gln443fs)indel Pathogenic 13693 rs387906528 7:87072662-87072663 7:87443346-87443347
4 ABCB4 NM_000443.4(ABCB4):c.2932T>C (p.Ser978Pro)SNV Likely pathogenic 599183 rs1051861187 7:87038701-87038701 7:87409385-87409385
5 ABCB4 NM_000443.4(ABCB4):c.2869C>T (p.Arg957Ter)SNV Likely pathogenic 13687 rs121918440 7:87041264-87041264 7:87411948-87411948
6 ABCB4 NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe)SNV Conflicting interpretations of pathogenicity 13690 rs72552778 7:87076396-87076396 7:87447080-87447080
7 ABCB4 NM_000443.4(ABCB4):c.101C>T (p.Thr34Met)SNV Conflicting interpretations of pathogenicity 196273 rs142794414 7:87101971-87101971 7:87472655-87472655
8 ABCB4 NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln)SNV Conflicting interpretations of pathogenicity 13697 rs45575636 7:87060844-87060844 7:87431528-87431528
9 ABCB4 NM_000443.4(ABCB4):c.3481C>T (p.Pro1161Ser)SNV Uncertain significance 13692 rs121918442 7:87035609-87035609 7:87406293-87406293
10 ABCB4 NM_000443.4(ABCB4):c.140G>A (p.Arg47Gln)SNV Uncertain significance 197144 rs372685632 7:87092220-87092220 7:87462904-87462904
11 ABCB4 NM_000443.4(ABCB4):c.217C>G (p.Leu73Val)SNV Uncertain significance 374521 rs8187788 7:87092143-87092143 7:87462827-87462827
12 ABCB4 NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala)SNV Benign/Likely benign 13691 rs58238559 7:87082273-87082273 7:87452957-87452957

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

73 (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

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
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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