GBD1
MCID: GLL024
MIFTS: 51

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 57 75 13
Gallstones 75 43 44 63
Cholelithiasis 75 73
Cholecystitis 75 73
Gbd1 57 75
Lpac 57 59
Cholelithiasis, Low Phospholipid-Associated; Lpac 57
Abcb4 Gene Mutation-Associated Cholelithiasis 59
Cholelithiasis, Low Phospholipid-Associated 57
Low Phospholipid Associated Cholelithiasis 59
Low Phospholipid-Associated Cholelithiasis 73
Cholelithiasis with Abcb4 Gene Mutation 59
Gallbladder Disease, Type 1 ) 40
Cholecystolithiasis 73

Characteristics:

Orphanet epidemiological data:

59
low phospholipid associated cholelithiasis
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adult;

OMIM:

57
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:

32

Classifications:

Orphanet: 59  
Rare hepatic diseases


Summaries for Gallbladder Disease 1

OMIM : 57 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, small intestine and kidney, and related phenotypes are hepatic fibrosis and cholelithiasis

MedlinePlus : 43 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 : 75 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 : 63 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 493)
# Related Disease Score Top Affiliating Genes
1 acalculous cholecystitis 12.5
2 emphysematous cholecystitis 12.5
3 xanthogranulomatous cholecystitis 12.3
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 ovalocytosis, southeast asian 11.1
8 dicrocoeliasis 11.0
9 opisthorchiasis 11.0
10 spherocytosis, type 1 11.0
11 overhydrated hereditary stomatocytosis 11.0
12 bisphosphoglycerate mutase deficiency 11.0
13 duodenal atresia 11.0
14 beta-thalassemia, dominant inclusion body type 11.0
15 gallbladder disease 4 11.0
16 spherocytosis, type 2 11.0
17 dehydrated hereditary stomatocytosis 2 11.0
18 cholecystolithiasis 11.0
19 protoporphyria, erythropoietic, 1 10.9
20 anemia, congenital dyserythropoietic, type ii 10.9
21 protoporphyria, erythropoietic, x-linked 10.9
22 ascaris lumbricoides infection 10.9
23 somatostatinoma 10.9
24 bile duct disease 10.9
25 pancreatitis, pediatric 10.9
26 glucose phosphate isomerase deficiency 10.9
27 cholecystitis 10.6
28 choledocholithiasis 10.5
29 sickle cell disease 10.3
30 viral infectious disease 10.3
31 duodenal obstruction 10.3
32 acute cholangitis 10.3
33 pancreatitis 10.2
34 cholestasis 10.2
35 cholelithiasis 10.2
36 systemic lupus erythematosus 10.2
37 lupus erythematosus 10.2
38 liver cirrhosis 10.2
39 thalassemia 10.2
40 dengue virus 10.1
41 leptospirosis 10.1
42 sickle cell anemia 10.1
43 liver disease 10.1
44 dengue disease 10.1
45 intestinal obstruction 10.1
46 situs inversus 10.1
47 typhoid fever 10.1
48 hepatitis 10.1
49 hepatitis c 10.1
50 hepatitis a 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:

57
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:

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

Drugs & Therapeutics for Gallbladder Disease 1

PubMedHealth treatment related to Gallbladder Disease 1: 63

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 73 / NDF-RT 51 :


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:

41
Liver, Small Intestine, Kidney, Testes, Heart, Colon, Lung

Publications for Gallbladder Disease 1

Articles related to Gallbladder Disease 1:

(show top 50) (show all 889)
# Title Authors Year
1
Acute cholecystitis induced by surgery for levodopa-carbidopa intestinal gel therapy: Possible relationship to pre-existing gallstones. ( 29661695 )
2018
2
Gallstones were associated with the gastrointestinal adverse events of cinacalcet in hemodialysis patients with secondary hyperparathyroidism. ( 29301445 )
2018
3
Association between cholesterol gallstones and testosterone replacement therapy in a patient with primary hypogonadism. ( 29656844 )
2018
4
Nonalcoholic fatty liver disease, cholesterol gallstones, and cholecystectomy: new insights on a complex relationship. ( 29266009 )
2018
5
Dropped gallstones causing abdominal wall abscess and pleural empyema: a case series. ( 30373501 )
2018
6
Gallstones and cholecystectomy in relation to risk of liver cancer. ( 29738324 )
2018
7
Shared decision-making during surgical consultation for gallstones at a safety-net hospital. ( 29223328 )
2018
8
In vitro Salmonella typhi biofilm formation on gallstones and its disruption by Manuka honey. ( 29348094 )
2018
9
Calcified Spleen and Gallstones. ( 29365300 )
2018
10
Clinical and biological study of the 31 cases of gallstones. ( 29623887 )
2018
11
Gallstones: Watch and wait, or intervene? ( 29634468 )
2018
12
Genetic polymorphism of sterol transporters in children with future gallstones. ( 29764733 )
2018
13
Spilled gallstones simulating peritoneal carcinomatosis: A case report and literature review. ( 29885915 )
2018
14
Unraveling the impact of chronic exposure to metal pollution through human gallstones. ( 29929220 )
2018
15
Dropped gallstones mimicking peritoneal metastasis: A case report. ( 29988777 )
2018
16
Total Hip Lithiasis: A Rare Sequelae of Spilled Gallstones. ( 30013805 )
2018
17
Classification of gallstones using Fourier-transform infrared spectroscopy and photography. ( 30038795 )
2018
18
Metagenomics of pigmented and cholesterol gallstones: the putative role of bacteria. ( 30046045 )
2018
19
Incidence of gallstones after gastric resection for gastric cancer: a nationwide claims-based study. ( 30079325 )
2018
20
Moderate, but not heavy, tea drinking decreased the associated risk of gallstones in a Taiwanese population. ( 30135551 )
2018
21
Spilled Gallstones Silent for a Decade: A Case Report and Review of Literature. ( 30202664 )
2018
22
Two findings of gallstones in archaeological mummies from Colombia. ( 30292985 )
2018
23
"Aged" autopsy gallstones simulating dry bone context: A morphological, histological and SEM-EDS analysis. ( 30292986 )
2018
24
Crow's feet appearance: Fissured gallstones. ( 30309092 )
2018
25
Gallstones and Biliary Colic. ( 30326127 )
2018
26
Recent advances in understanding and managing cholesterol gallstones. ( 30345010 )
2018
27
Ursodeoxycholic acid combined with percutaneous transhepatic balloon dilation for management of gallstones after elimination of common bile duct stones. ( 30356997 )
2018
28
Frequency of gallstones and mean BMI in decompensated cirrhosis. ( 30374369 )
2018
29
Infected Renal Cyst as a Complication of Dropped Gallstones during Laparoscopic Cholecystectomy. ( 30405920 )
2018
30
Risk factors for gallstones and kidney stones in a cohort of patients with inflammatory bowel diseases. ( 29023532 )
2017
31
Gallstones: Bad Company for the Steatotic Liver. ( 28351652 )
2017
32
Gallbladder microbiota variability in Colombian gallstones patients. ( 28368860 )
2017
33
Gallstone Disease After Laparoscopic Sleeve Gastrectomy in an Asian Population-What Proportion of Gallstones Actually Becomes Symptomatic? ( 28401383 )
2017
34
Para-spinal abscess following gallstones spillage during laparoscopic cholecystectomy: an unusual presentation. ( 28458858 )
2017
35
The Role Of Diet In The Pathogenesis Of Cholesterol Gallstones. ( 28554328 )
2017
36
Chemical and structural analysis of gallstones from the Indian subcontinent. ( 28576062 )
2017
37
Re: Single-incision versus 3-port laparoscopic cholecystectomy in symptomatic gallstones: A prospective randomized study. ( 28599805 )
2017
38
Update on the Molecular Mechanisms Underlying the Effect of Cholecystokinin and Cholecystokinin-1 Receptor on the Formation of Cholesterol Gallstones. ( 28625150 )
2017
39
Cd36 knockout mice are protected against lithogenic diet-induced gallstones. ( 28634191 )
2017
40
Making the invisible visible: improving conspicuity of noncalcified gallstones using dual-energy CT. ( 28660332 )
2017
41
Utility of routine blood tests after elective laparoscopic cholecystectomy for symptomatic gallstones. ( 28690774 )
2017
42
Are incident gallstones associated to sex-dependent changes with age? A cohort study. ( 28704597 )
2017
43
Delayed Spontaneous Passage of Gallstones via Cholecystocutaneous Fistula. ( 28879207 )
2017
44
Efficacy and safety of laparoscopic bile duct exploration versus endoscopic sphincterotomy for concomitant gallstones and common bile duct stones: A meta-analysis of randomized controlled trials. ( 28906372 )
2017
45
Nonalcoholic fatty liver was associated with asymptomatic gallstones in a Chinese population. ( 28930823 )
2017
46
New insights into the metal partitioning in different microphases of human gallstones. ( 28965597 )
2017
47
Gallstones and Colon Cancer: A Result of a Wrong Study Revived. ( 28988925 )
2017
48
Metformin Use Correlates with Reduced Risk of Gallstones in Diabetic Patients: A 12-Year Follow-up Study. ( 29114226 )
2017
49
Novel associations of bile acid diarrhoea with fatty liver disease and gallstones: a cohort retrospective analysis. ( 29119003 )
2017
50
Association between diet and gallstones of cholesterol and pigment among patients with cholecystectomy: a case-control study in Korea. ( 29169372 )
2017

Variations for Gallbladder Disease 1

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

75 (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 (show all 16)
# 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.3629C> G (p.Ser1210Ter) single nucleotide variant Pathogenic rs748842753 GRCh37 Chromosome 7, 87032476: 87032476
14 ABCB4 NM_018849.2(ABCB4): c.3629C> G (p.Ser1210Ter) single nucleotide variant Pathogenic rs748842753 GRCh38 Chromosome 7, 87403160: 87403160
15 ABCB4 NM_018849.2(ABCB4): c.1015delT (p.Ser339Glnfs) deletion Pathogenic rs753104429 GRCh38 Chromosome 7, 87444966: 87444966
16 ABCB4 NM_018849.2(ABCB4): c.1015delT (p.Ser339Glnfs) deletion Pathogenic rs753104429 GRCh37 Chromosome 7, 87074282: 87074282

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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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