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 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


Orphanet epidemiological data:

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


autosomal recessive
autosomal dominant

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 )




Orphanet: 59  
Rare hepatic diseases

External Ids:

OMIM 57 600803
Orphanet 59 ORPHA69663
UMLS via Orphanet 74 C2609268

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 cholecystitis and acalculous 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 elevated hepatic transaminases and hepatic fibrosis

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:

# Related Disease Score Top Affiliating Genes
1 cholecystitis 12.8
2 acalculous cholecystitis 12.4
3 emphysematous cholecystitis 12.4
4 xanthogranulomatous cholecystitis 12.2
5 cholestasis with gallstone, ataxia, and visual disturbance 11.9
6 cholelithiasis 10.1
7 hepatitis 9.9
8 hepatitis c 9.9

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:

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

Skin Nails Hair Skin:
jaundice (in some patients)

Abdomen Biliary Tract:
cholesterol gallstones
biliary colic

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

Clinical features from OMIM:


Human phenotypes related to Gallbladder Disease 1:

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

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:

Liver, Small Intestine, Kidney, Testes

Publications for Gallbladder Disease 1

Articles related to Gallbladder Disease 1:

# Title Authors Year
ABCB4 gene mutation-associated cholelithiasis in adults. ( 12891548 )

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:

# 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.1328_1329delAGinsCAA (p.Gln443Profs) indel Pathogenic rs387906528 GRCh38 Chromosome 7, 87443346: 87443347
3 ABCB4 NM_018849.2(ABCB4): c.1633C> G (p.Arg545Gly) single nucleotide variant Pathogenic rs397514620 GRCh37 Chromosome 7, 87069081: 87069081
4 ABCB4 NM_018849.2(ABCB4): c.1633C> G (p.Arg545Gly) single nucleotide variant Pathogenic rs397514620 GRCh38 Chromosome 7, 87439765: 87439765
5 ABCB4 NM_018849.2(ABCB4): c.3629C> G (p.Ser1210Ter) single nucleotide variant Pathogenic rs748842753 GRCh37 Chromosome 7, 87032476: 87032476
6 ABCB4 NM_018849.2(ABCB4): c.3629C> G (p.Ser1210Ter) single nucleotide variant Pathogenic rs748842753 GRCh38 Chromosome 7, 87403160: 87403160
7 ABCB4 NM_018849.2(ABCB4): c.1015delT (p.Ser339Glnfs) deletion Pathogenic rs753104429 GRCh37 Chromosome 7, 87074282: 87074282
8 ABCB4 NM_018849.2(ABCB4): c.1015delT (p.Ser339Glnfs) deletion Pathogenic rs753104429 GRCh38 Chromosome 7, 87444966: 87444966

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

9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
55 Novoseek
58 OMIM via Orphanet
62 PubMed
70 SNOMED-CT via Orphanet
72 Tocris
74 UMLS via Orphanet
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