MCID: GLL024
MIFTS: 36

Gallbladder Disease 1

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

Aliases & Classifications for Gallbladder Disease 1

MalaCards integrated aliases for Gallbladder Disease 1:

Name: Gallbladder Disease 1 54 24 71 13
Gallstones 71 41 42
Cholelithiasis 71 69
Cholecystitis 71 69
Abcb4 Gene Mutation-Associated Cholelithiasis 56
Low Phospholipid Associated Cholelithiasis 56
Low Phospholipid-Associated Cholelithiasis 69
Cholelithiasis with Abcb4 Gene Mutation 56
Cholecystolithiasis 69
Lpac 56
Gbd1 71

Characteristics:

Orphanet epidemiological data:

56
low phospholipid associated cholelithiasis
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adult;

OMIM:

54
Inheritance:
autosomal dominant
autosomal recessive

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:

32

Classifications:

Orphanet: 56  
Rare hepatic diseases


Summaries for Gallbladder Disease 1

OMIM : 54
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 jaundice, pancreatitis and hepatic fibrosis. An important gene associated with Gallbladder Disease 1 is ABCB4 (ATP Binding Cassette Subfamily B Member 4). The drugs Dopamine and Droperidol have been mentioned in the context of this disorder. Affiliated tissues include liver, testes and kidney.

MedlinePlus : 41 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.

Related Diseases for Gallbladder Disease 1

Diseases in the Gallbladder Disease family:

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

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

(show all 12)
id Related Disease Score Top Affiliating Genes
1 cholecystitis 12.6
2 acalculous cholecystitis 12.2
3 emphysematous cholecystitis 12.2
4 xanthogranulomatous cholecystitis 12.1
5 mirizzi syndrome 11.1
6 erythrocytosis due to bisphosphoglycerate mutase deficiency 10.8
7 duodenal atresia 10.8
8 dicrocoeliasis 10.8
9 opisthorchiasis 10.8
10 cholelithiasis 10.3
11 cholestasis 9.9
12 intrahepatic cholestasis 9.8

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:

54

Abdomen- Pancreas:
pancreatitis

Abdomen- Liver:
hepatic fibrosis
ductal proliferation seen on biopsy (in some patients)
cholestasis, chronic
intrahepatic cholelithiasis
cholesterol cholelithiasis
more
Skin Nails & Hair- Skin:
jaundice (in some patients)

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

Abdomen- Biliary Tract:
cholelithiasis
cholecystitis
cholangitis
biliary colic
cholesterol gallstones


Clinical features from OMIM:

600803

Human phenotypes related to Gallbladder Disease 1:

32 (show all 9)
id Description HPO Frequency HPO Source Accession
1 jaundice 32 occasional (7.5%) HP:0000952
2 pancreatitis 32 HP:0001733
3 hepatic fibrosis 32 HP:0001395
4 cholelithiasis 32 HP:0001081
5 cholecystitis 32 HP:0001082
6 cholangitis 32 HP:0030151
7 elevated alkaline phosphatase 32 HP:0003155
8 cholesterol gallstones 32 HP:0011980
9 elevated hepatic transaminases 32 HP:0002910

Drugs & Therapeutics for Gallbladder Disease 1

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

(show top 50) (show all 303)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
2
Droperidol Approved, Vet_approved Phase 4 548-73-2 3168
3
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
4
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
5
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
6
Flurbiprofen Approved, Investigational Phase 4 5104-49-4 3394
7
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
8
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
9
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
10
Benzocaine Approved Phase 4 1994-09-7, 94-09-7 2337
11
Meperidine Approved Phase 4 57-42-1 4058
12
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
13
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
14
Ceftriaxone Approved Phase 4 73384-59-5 5479530 5361919
15
Metronidazole Approved Phase 4,Phase 1 443-48-1 4173
16
Minocycline Approved, Investigational Phase 4 10118-90-8 5281021
17
Tigecycline Approved Phase 4 220620-09-7 5282044
18
Acetaminophen Approved Phase 4 103-90-2 1983
19
Atropine Approved, Vet_approved Phase 4 5908-99-6, 51-55-8 174174
20
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
21
Ephedrine Approved Phase 4 299-42-3 9294
22
Esmolol Approved Phase 4 103598-03-4, 81147-92-4 59768
23
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
24
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
25
Morphine Approved, Investigational Phase 4,Phase 1 57-27-2 5288826
26
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456
27
Ondansetron Approved Phase 4 99614-02-5 4595
28
Pseudoephedrine Approved Phase 4 90-82-4 7028
29
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613 2171
30
Granisetron Approved, Investigational Phase 4 109889-09-0 3510
31 tannic acid Approved, Nutraceutical Phase 4
32 Coagulants Phase 4
33 Hemostatics Phase 4
34 Adjuvants, Anesthesia Phase 4
35 Analgesics Phase 4,Phase 1
36 Anesthetics Phase 4,Phase 1,Phase 2
37 Anesthetics, Dissociative Phase 4
38 Anesthetics, General Phase 4
39 Anesthetics, Intravenous Phase 4
40 Anesthetics, Local Phase 4,Phase 1
41 Anti-Anxiety Agents Phase 4
42 Anti-Arrhythmia Agents Phase 4
43 Anticonvulsants Phase 4
44 Antiemetics Phase 4,Phase 3,Phase 2,Phase 1
45 Antimanic Agents Phase 4
46 Antiparkinson Agents Phase 4
47 Antipsychotic Agents Phase 4
48 Autonomic Agents Phase 4,Phase 2,Phase 1
49 calcium channel blockers Phase 4
50 Calcium, Dietary Phase 4,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 195)

id Name Status NCT ID Phase Drugs
1 SILS™ Port Laparoscopic Cholecystectomy Post Market Study Unknown status NCT00832767 Phase 4
2 Efficacy and Safety of Floseal for the Haemostasis During Laparoscopic Cholecystectomy in Acute Cholecystitis (GLA) Unknown status NCT01126281 Phase 4
3 Optimal Multimodal Analgesia in Laparoscopic Cholecystectomy Unknown status NCT00209885 Phase 4 Gabapentin;S-ketamine;Lidocaine;Droperidol
4 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
5 Study of the Use of Humidified Warmed Gas and the Effect on Post-Operative Pain in Laparoscopic Cholecystectomies Unknown status NCT00792389 Phase 4
6 A Study Comparing the Use of Deep or Standard Neuromuscular Blockade in Combination With Low or Standard Insufflation Pressures in Participants Undergoing Laparoscopic Cholecystectomy (P07982) Completed NCT01728584 Phase 4 Rocuronium;Sugammadex
7 Cocktail Sedation Containing Propofol Versus Conventional Sedation for Endoscopic Retrograde Cholangiopancreatography (ERCP) Completed NCT01540084 Phase 4 propofol
8 Efficacy and Safety Profiles of Combination Sedation Propofol With Midazolam and Meperidine. Completed NCT01709422 Phase 4 Propofol;Midazolam;Meperidine
9 Cholecyst- Versus Cystic Duct Cholangiography During Laparoscopic Cholecystectomy Completed NCT01103570 Phase 4
10 Endovenous Lidocaine and Serum Cytokines Concentration Completed NCT02363699 Phase 4 Lidocaine;Saline solution
11 Biliary Metal Stent Study: Metal Stents for Management of Distal Malignant Biliary Obstruction Completed NCT00280709 Phase 4
12 Study Comparing Tigecycline Versus Ceftriaxone Sodium Plus Metronidazole in Complicated Intra-abdominal Infection Completed NCT00195351 Phase 4 tigecycline;ceftriaxone sodium + metronidazole
13 Study Comparing Tigecycline Versus Ceftriaxone Sodium Plus Metronidazole in Complicated Intra-abdominal Infection (cIAI) Completed NCT00230971 Phase 4 tigecycline;ceftriaxone plus metronidazole
14 Robotic Assisted Versus Laparoscopic Cholecystectomy - Outcome and Cost Analyses of a Case-Matched Control Study Completed NCT00562900 Phase 4
15 Intraoperative Lidocaine Infusion vs. Esmolol Infusion for Postoperative Analgesia in Laparoscopic Cholecystectomy Completed NCT02327923 Phase 4 Lidocaine;Esmolol;Paracetamol;Lidocaine;Propofol;Fentanyl;Vecuronium;Atropine;Ephedrine;Morphine;Ketorolac;Ondansetron;Bupivacaine;Tramadol;Neostigmine;Glycopyrrolate
16 Granisetron Effect on Hemodynamic Changes in Laparoscopic Cholecystectomy Recruiting NCT03180229 Phase 4 Granisetron 1 Mg/mL Intravenous Solution
17 Extended Antibiotic Therapy in Postoperative of Laparoscopic Cholecystectomy in Acute Cholecystitis Recruiting NCT02057679 Phase 4 Amoxicillin clavulanic;Placebo
18 Endoscopic Treatment of Difficult Bile Duct Stones: Spyglass + EHL x Balloon Dilation of the Papilla Recruiting NCT02703077 Phase 4
19 Deep Versus Moderate Neuromuscular Blockade During Laparoscopic Surgery Recruiting NCT02812186 Phase 4 Rocuronium
20 Contrastive Study for Minimally Invasive Cholecystolithotomy With Gallbladder Reservation and Laparoscopic Cholecystectomy Recruiting NCT01822262 Phase 4
21 Single Port Access (SPA) Cholecystectomy Versus Standard Laparoscopic Cholecystectomy Unknown status NCT00904865 Phase 2, Phase 3
22 Drainage is Not Necessary Procedure After Laparoscopic Cholecystectomy Due to Severe Acute Cholecystitis Unknown status NCT01625247 Phase 3
23 Single Incision Laparoscopic Surgery vs Flexible Single Incision Surgery for Cholecystectomy Completed NCT01558414 Phase 3
24 Gemcitabine With or Without Cisplatin in Treating Patients With Unresectable Locally Advanced or Metastatic Cholangiocarcinoma or Other Biliary Tract Tumors Completed NCT00262769 Phase 3 cisplatin;gemcitabine hydrochloride
25 Acute Cholecystitis - Early Laparoscopic Surgery Versus Antibiotic Therapy and Delayed Elective Cholecystectomy Completed NCT00447304 Phase 3 moxifloxacin
26 Biliary Stenting With or Without Photodynamic Therapy in Treating Patients With Locally Advanced, Recurrent, or Metastatic Cholangiocarcinoma or Other Biliary Tract Tumors That Cannot Be Removed by Surgery Completed NCT00513539 Phase 3 porfimer sodium
27 Adjuvant Chemotherapy With Gemcitabine and Cisplatin Compared to Standard of Care After Curative Intent Resection of Biliary Tract Cancer Recruiting NCT02170090 Phase 3 Gemcitabine;Cisplatin;Capecitabine
28 Effectiveness of Ursodeoxycholic Acid Use in the Prevention of Gallstone Formation After Sleeve Gastrectomy Recruiting NCT02721862 Phase 3 Ursodeoxycholic Acid;Placebo
29 Active Symptom Control Alone or With mFOLFOX Chemotherapy for Locally Advanced/ Metastatic Biliary Tract Cancers Recruiting NCT01926236 Phase 3 L-folinic acid;5 FU;Oxaliplatin
30 Pentoxifylline Treatment in Acute Pancreatitis (AP) Enrolling by invitation NCT02487225 Phase 3 Pentoxifylline;Placebo
31 Perioperative Therapy Preoperative Chemotherapy Versus Chemoradiotherapy in Locally Advanced Gall Bladder Cancers Not yet recruiting NCT02867865 Phase 2, Phase 3 Gemcitabine;Cisplatin
32 Gemcitabine With or Without Capecitabine in Treating Patients With Locally Advanced, Unresectable, or Metastatic Biliary Cancer Terminated NCT00658593 Phase 3 capecitabine;gemcitabine hydrochloride
33 A Parallel Study Evaluating the Effect of A-F Betafood® on Gallbladder and Liver Function. Unknown status NCT01981343 Phase 2
34 Natural Orifice Transgastric Endoscopic Surgical Removal of the Gallbladder Unknown status NCT01174069 Phase 1, Phase 2
35 HAI Via Interventionally Implanted Port Catheter Systems Unknown status NCT00356161 Phase 2
36 Capecitabine, Oxaliplatin, Bevacizumab and Radiation Therapy in Patients With Biliary Tract and Gallbladder Cancer Unknown status NCT00142480 Phase 2 Capecitabine;Oxaliplatin;Bevacizumab
37 Transvaginal NOTES Cholecystectomy: Phase I/II Mexico Clinical Trial Completed NCT00710502 Phase 1, Phase 2
38 Drug Interactions Between Lopinavir/Ritonavir and Oral or Patch Contraceptives in HIV Infected Women Completed NCT00125983 Phase 2 Lopinavir/ritonavir;Ortho Novum 1/35;Ortho Evra
39 Gemcitabine, Oxaliplatin in Combination With Bevacizumab in Biliary Tract and Gallbladder Cancer Completed NCT00361231 Phase 2 Bevacizumab;Gemcitabine;Oxaliplatin
40 A Feasibility Phase II Study in the Treatment of Resected Cholangiocarcinoma, Gallbladder, Pancreatic and Ampullary Cancers Completed NCT00660699 Phase 2 Gemcitabine;Docetaxel
41 Gemcitabine, Oxaliplatin and Panitumumab in Kras/B-raf Wild-Type Biliary Track and Gallbladder Cancer Completed NCT01308840 Phase 2 Panitumumab;oxaliplatin;gemcitabine
42 A Study of Combination of Gemcitabine, Oxaliplatin (GEMOX)-Sorafenib in Patients With Advanced Biliary Tract Cancer Completed NCT00955721 Phase 1, Phase 2 Gemcitabine;Oxaliplatin;Sorafenib
43 Influence of the OATP1B1 and OATP1B3 Genotype on the Hepatic Uptake of Primovist® Completed NCT01420211 Phase 1, Phase 2 Primovist® 0,25 mmol/ml solution for injection
44 Vandetanib Gemcitabine Or Placebo Plus Gemcitabine Or Vandetanib Monotherapy In Advanced Biliary Tract Cancer Completed NCT00753675 Phase 2 ZD6474, Vandetanib;ZD6474, Vandetanib;Gemcitabine;Placebo matching ZD6474
45 S0202 Gemcitabine and Capecitabine for Unresectable Locally Advanced Metastatic Gallbladder Cancer or Cholangiocarcinoma Completed NCT00033540 Phase 2 capecitabine;gemcitabine hydrochloride
46 Study of Capecitabine and Oxaliplatin in Combination With Radiotherapy in Patients With Unresectable Gastro-Intestinal Cancer Completed NCT01016639 Phase 1, Phase 2
47 Oxaliplatin and Capecitabine in Patients With Unresectable Cholangiocarcinoma Completed NCT00338988 Phase 2 Capecitabine;Oxaliplatin
48 Radiation Stent Versus Self-expanding Metallic Stents (SEMS) for Palliative Treatment of Malignant Biliary Stricture Completed NCT01320241 Phase 2
49 Tomotherapy in Locally Advanced Gallbladder and Pancreatic Cancers Completed NCT01118897 Phase 1, Phase 2
50 Efficacy of Imatinib and 5-FU/Leucovorin in Patients With Advanced Carcinoma of the Gallbladder and Bile Duct Completed NCT01153750 Phase 2 Glivec

Search NIH Clinical Center for Gallbladder Disease 1

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: gallstones

Genetic Tests for Gallbladder Disease 1

Genetic tests related to Gallbladder Disease 1:

id Genetic test Affiliating Genes
1 Gallbladder Disease 1 24 ABCB4

Anatomical Context for Gallbladder Disease 1

MalaCards organs/tissues related to Gallbladder Disease 1:

39
Liver, Testes, Kidney, Small Intestine, Lung, Breast, Endothelial

Publications for Gallbladder Disease 1

Variations for Gallbladder Disease 1

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

71 (show all 27)
id 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
24 ABCB4 p.Pro726Leu VAR_073766 rs141677867
25 ABCB4 p.Ser729Leu VAR_073768
26 ABCB4 p.Leu975Val VAR_073773 rs759787957
27 ABCB4 p.Arg1084Trp VAR_073775

ClinVar genetic disease variations for Gallbladder Disease 1:

6
id 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 GRCh38 Chromosome 7, 87439765: 87439765
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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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