MCID: BLD063
MIFTS: 43

Bile Duct Cysts

Categories: Gastrointestinal diseases, Liver diseases, Rare diseases

Aliases & Classifications for Bile Duct Cysts

MalaCards integrated aliases for Bile Duct Cysts:

Name: Bile Duct Cysts 56 52 71
Choledochal Cyst 12 52 58 43 15 71 32
Congenital Choledochal Cyst 12 52
Choledochocele 56 52
Congenital Cystic Dilatation of the Biliary Tract 58
Choledochal Cysts 56

Classifications:

Orphanet: 58  
Rare hepatic diseases


External Ids:

Disease Ontology 12 DOID:899
OMIM 56 603003
MeSH 43 D015529
NCIt 49 C2943
SNOMED-CT 67 30533003
ICD10 32 Q44.4
Orphanet 58 ORPHA480501
MedGen 41 C0008340
UMLS 71 C0008340 C0267931

Summaries for Bile Duct Cysts

MalaCards based summary : Bile Duct Cysts, also known as choledochal cyst, is related to cholelithiasis and ascending cholangitis. An important gene associated with Bile Duct Cysts is GPT (Glutamic--Pyruvic Transaminase), and among its related pathways/superpathways are Farnesoid X Receptor Pathway and p38MAPK events. The drugs Midazolam and Etomidate have been mentioned in the context of this disorder. Affiliated tissues include liver, pancreas and kidney, and related phenotype is liver/biliary system.

Wikipedia : 74 Choledochal cysts (a.k.a. bile duct cyst) are congenital conditions involving cystic dilatation of bile... more...

More information from OMIM: 603003

Related Diseases for Bile Duct Cysts

Diseases related to Bile Duct Cysts via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 339)
# Related Disease Score Top Affiliating Genes
1 cholelithiasis 30.9 GPT GGT1 ABCB4
2 ascending cholangitis 30.7 GPT GGTLC3 GGT2
3 hepatitis a 30.5 GPT GGT1 AFP
4 cholangiocarcinoma 30.5 KRAS GGT1 CEACAM5 AFP
5 cholecystolithiasis 30.5 GPT GGTLC3 CEACAM5
6 duodenal obstruction 30.4 PRSS1 CEACAM5
7 obstructive jaundice 30.3 SLC25A13 GPT GGT1
8 pancreatitis 30.2 PRSS1 KRAS HRAS GGT1
9 signet ring cell adenocarcinoma 30.2 KRAS HRAS CEACAM5
10 pancreatic intraductal papillary-mucinous neoplasm 30.2 KRAS HRAS
11 biliary dyskinesia 30.0 PRSS1 GPT
12 cholangitis 30.0 GPT GGT1 CEACAM5 ABCB4 ABCB11
13 appendix adenocarcinoma 30.0 KRAS HRAS CEACAM5
14 viral hepatitis 30.0 GPT GGT1 AFP
15 villous adenoma 30.0 KRAS HRAS CEACAM5
16 chronic cholangitis 29.9 ATP8B1 ABCB4
17 esophageal varix 29.9 GPT GGTLC3 GGT2 GGT1 AFP
18 acute cholangitis 29.9 GPT GGTLC3 GGT2 GGT1 CEACAM5
19 biliary atresia 29.8 GPT GGT1 CFC1 ATP8B1 ABCB4 ABCB11
20 caroli disease 29.7 PRKCSH ATP8B1 ABCB4
21 suppurative cholangitis 29.7 GPT GGTLC3 GGT2 ABCB4
22 choledocholithiasis 29.4 GPT GGTLC3 GGT2 GGT1 CEACAM5 ABCB4
23 gallbladder cancer 29.4 KRAS CEACAM5 AFP ABCB4
24 sclerosing cholangitis 29.3 GPT GGT1 CEACAM5 ABCB4 ABCB11
25 bile duct cancer 29.2 KRAS HRAS GPT CEACAM5 CCS AFP
26 bile duct adenocarcinoma 29.1 PRRT2 KRAS HRAS CEACAM5 CCS AFP
27 primary biliary cirrhosis 29.0 GPT GGT1 ABCB4 ABCB11
28 cholestasis 28.9 SLC25A13 GPT GGT1 ATP8B1 ABCB4 ABCB11
29 bilirubin metabolic disorder 28.7 GPT GGTLC3 GGT2 GGT1 ATP8B1 ABCB4
30 cholangitis, primary sclerosing 28.2 PRRT2 GPT GGTLC3 GGT2 GGT1 ATP8B1
31 liver disease 28.0 SLC25A13 PRKCSH GPT GGT1 ATP8B1 AFP
32 gallbladder disease 27.2 KRAS HRAS GPT GGTLC3 GGT2 GGT1
33 biliary tract disease 26.2 SLC25A13 PRRT2 KRAS HRAS GPT GGTLC3
34 duodenal atresia 11.7
35 bile acid synthesis defect, congenital, 2 11.4
36 peritonitis 10.7
37 cholecystitis 10.5
38 pancreas lymphoma 10.5 GPT CEACAM5
39 liver cirrhosis 10.5
40 intestinal obstruction 10.5
41 pancreatic cystadenocarcinoma 10.5 GGT2 CEACAM5
42 hepatic tuberculosis 10.4 GPT GGT1
43 non-alcoholic steatohepatitis 10.4 GPT GGT1
44 adenocarcinoma 10.4
45 ileus 10.4
46 liver lipoma 10.4 CEACAM5 AFP
47 malignant sertoli-leydig cell tumor 10.4 CEACAM5 AFP
48 gastrointestinal tuberculosis 10.4 GPT CEACAM5
49 gestational ovarian choriocarcinoma 10.4 CEACAM5 AFP
50 rhabdomyosarcoma 10.4

Graphical network of the top 20 diseases related to Bile Duct Cysts:



Diseases related to Bile Duct Cysts

Symptoms & Phenotypes for Bile Duct Cysts

Clinical features from OMIM:

603003

MGI Mouse Phenotypes related to Bile Duct Cysts:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.17 ABCB11 ABCB4 AFP ATP8B1 KRAS PRKCSH

Drugs & Therapeutics for Bile Duct Cysts

Drugs for Bile Duct Cysts (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 36)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
2
Etomidate Approved Phase 4 33125-97-2 667484 36339
3
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
4
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
5
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
6 Hydrocortisone hemisuccinate Phase 4
7 Anti-Inflammatory Agents Phase 4
8 Neurotransmitter Agents Phase 4
9 Tranquilizing Agents Phase 4
10 GABA Modulators Phase 4
11 Psychotropic Drugs Phase 4
12 Hydrocortisone 17-butyrate 21-propionate Phase 4
13 GABA Agents Phase 4
14 Central Nervous System Depressants Phase 4
15 Hypnotics and Sedatives Phase 4
16 Anesthetics, General Phase 4
17 Adjuvants, Anesthesia Phase 4
18 Anesthetics, Intravenous Phase 4
19 Hydrocortisone-17-butyrate Phase 4
20 Anti-Anxiety Agents Phase 4
21
Gemcitabine Approved Phase 2 95058-81-4 60750
22
Cisplatin Approved Phase 2 15663-27-1 84093 441203 2767
23
Fluorouracil Approved Phase 2 51-21-8 3385
24
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
25
Pancrelipase Approved, Investigational Phase 2 53608-75-6
26
Carboplatin Approved Phase 2 41575-94-4 10339178 498142 38904
27 Immunosuppressive Agents Phase 2
28 Liver Extracts Phase 2
29 Immunologic Factors Phase 2
30 Anti-Infective Agents Phase 2
31 pancreatin Phase 2
32 Albumin-Bound Paclitaxel Phase 2
33 Cola Phase 2
34 Antimetabolites Phase 2
35 Antiviral Agents Phase 2
36 Anesthetics

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase 1 Study of Circadian Rhythm of Salivary Cortisol in Health Children ;Phase 2 Study of Circadian Rhythm of Salivary Cortisol of Children Undergoing Surgery Using Etomidate or Not Using Etomidate. Unknown status NCT02013986 Phase 4 etomidate;midazolam;propofol
2 Definitive Chemoradiation With Gemcitabine and Continuous 5- FU (Fluorouracil)Followed by High Dose Rate Brachytherapy or Stereotactic Body Radiation Therapy Boost in Locally Advanced Intra or Extrahepatic Cholangiocarcinoma Terminated NCT00983541 Phase 2 Fluorouracil (5-FU);Gemcitabine
3 Superior Bilioenteric Anastomosis by Magnetic Compressive Technique: A Multicenter, Prospective, Randomized Controlled Trial Unknown status NCT02801500
4 Role of Complete Blood Picture in Predicting the Etiology of Extrahepatic Cholestasis Completed NCT03237247
5 Cytological Evaluation of Biliary Epithelium After Previous Endoscopic Sphincterotomy for Benign Disease Completed NCT01135732
6 The RCT Study of Two Surgical Biliary-enteric Reconstruction Minimally Invasive Treatment of Bile Duct Dilatation Recruiting NCT03401424
7 Bilioenteric Anastomosis by Magnetic Compressive Technique: A Prospective, Randomized Controlled Trial Recruiting NCT03774589
8 COMPLICATIONS OF ENDOSCOPIC RETROGRADE CHOLANGIOPANCREATOGRAPHY- AN INDIAN PERSPECTIVE Active, not recruiting NCT04062617
9 Endoscopic Access Loop With Bilio-enteric Anastomosis: A Prospective Randomized Comparison Between Gastric and Subcutaneous Accesses Not yet recruiting NCT03252379
10 A Prospective Randomised Study on the Patency Period of the Plastic Anti-reflux Biliary Stent Terminated NCT01142921

Search NIH Clinical Center for Bile Duct Cysts

Cochrane evidence based reviews: choledochal cyst

Genetic Tests for Bile Duct Cysts

Anatomical Context for Bile Duct Cysts

MalaCards organs/tissues related to Bile Duct Cysts:

40
Liver, Pancreas, Kidney, Colon, Testes, Appendix, Skin

Publications for Bile Duct Cysts

Articles related to Bile Duct Cysts:

(show top 50) (show all 1835)
# Title Authors PMID Year
1
Familial occurrence of congenital bile duct cysts. 56 61
9570247 1998
2
Choledochal cyst--clinical features and classification. 61 56
4025281 1985
3
Discordance for anomalous pancreaticobiliary ductal junction and congenital biliary dilatation in a set of monozygotic twins. 56
1469575 1992
4
The choledochocele: correlation of radiological, clinical and pathological findings. 56
1244667 1976
5
Giant choledochal cyst and infantile polycystic kidneys as prenatal sonographic features of Caroli syndrome. 61
31584696 2020
6
Cystic biliary atresia or atretic choledochal cyst: A continuum in infantile obstructive cholangiopathy. 61
31204550 2019
7
Comparison of robotic versus laparoscopic hepaticojejunostomy for choledochal cyst in children: a first report. 61
31555861 2019
8
Immunoglobulin G4-related disease mimicking gallbladder cancer with associated choledochal cyst: A case report of a malignant masquerade. 61
31832557 2019
9
What should be the best approach in the management of bile duct cysts in the era of cholangioscopy? 61
31793326 2019
10
Bile Plug Syndrome Mimicking Choledochal Cyst. 61
31209759 2019
11
Needle-knife deroofing of a symptomatic type III choledochal cyst. 61
31816657 2019
12
Giant choledochal cyst. An unusual cause of obstructive jaundice in an adult. 61
31104867 2019
13
Robotic-assisted surgery for choledochal cyst in children: early experience at Vietnam National Children's Hospital. 61
31270674 2019
14
Laparoscopic excision and redo hepaticojejunostomy for remnant choledochal cyst with anastomotic stricture in an adult: A case report. 61
31793453 2019
15
Coexistence of Complete Pancreas Divisum and Anomalous Pancreaticobiliary Junction in a Patient With Type IA Choledochal Cyst. 61
30077786 2019
16
Separate pancreatic ducts draining into a type IV choledochal cyst: simultaneous anatomical variants in a child suffering from cholelithiasis and acute pancreatitis. 61
31707433 2019
17
A 7-Year-Old Boy with a Type IVA Choledochal Cyst Including a Cystic Duct Cyst: Repeating the Call to Further Modify the Todani Classification to Allow for Inclusion of Cystic Duct Cysts. 61
31775985 2019
18
Everting the Jejunal Mucosa Ensures a Secure Hepaticojejunostomy Anastomosis During Laparoscopic Repair of Choledochal Cyst in Children. 61
31532300 2019
19
Acute pancreatitis with Cullen's sign presentation in a case of mixed type I and II choledochal cyst. 61
31262503 2019
20
Biliary Pseudocyst: A Rare Complication of Antenatal Perforation of Forme Fruste Choledochal Cyst. 61
31571763 2019
21
Type VI choledochal cyst diagnosed on ERCP with direct cholangioscopy. 61
31709329 2019
22
Meandering Main Pancreatic Duct in Association with Choledochal Cysts and Acute Pancreatitis in Pediatrics. 61
31610001 2019
23
Diagnostic yield of endoscopic ultrasonography for dilation of common bile duct of indeterminate cause. 61
31373506 2019
24
The Pediatric Surgical Team: a Model for Increased Surgeon Index Case Exposure. 61
30765153 2019
25
Learning curve for robotic surgery in children: a systematic review of outcomes and fellowship programs. 61
31531753 2019
26
Early complications after laparoscopic resection of choledochal cyst. 61
31134322 2019
27
Congenital or acquired? Obstructive jaundice in reoperated duodenal atresia. 61
31466956 2019
28
Laparoscopic Management of Choledochal Cysts Associated with Aberrant Hepatic Ducts. 61
31314676 2019
29
A degenerate Todani Ia choledochal cyst in a patient with pancreas divisum. 61
31317754 2019
30
Timing of Choledochal Cyst Perforation. 61
31461783 2019
31
Letter to editor re: Baba T, Mukai M, Masuya R, et al. (2019) The long-term health-related quality of life in patients operated for choledochal cyst. Pediatr Surg Int 35:539-546. 61
31197445 2019
32
Spontaneous Arteriocholedochal Fistula as a Cause of Life-Threatening Hemobilia in a Type I Giant Choledochal Cyst: A Case Report on an Unusual Situation Requiring Whipple's Pancreatoduodenectomy. 61
31632886 2019
33
Todani type IVa choledochal cyst. 61
30683445 2019
34
Per-operative modified rigid cholangioscopy for removal of intrahepatic stones associated with choledochal cyst in children. 61
29794365 2019
35
Short-term and long-term outcomes after Roux-en-Y hepaticojejunostomy versus hepaticoduodenostomy following laparoscopic excision of choledochal cyst in children. 61
31342261 2019
36
The Presence of Pericholedochal Hyaline Cartilage in Biliary Atresia: A Report and A Review. 61
31314631 2019
37
Trends in Routine and Complex Hepatobiliary Surgery Among General and Pediatric Surgical Residents: What is the Next Generation Learning and is it Enough? 61
30902561 2019
38
Association between gallbladder agenesis and choledochal cyst: cause or coincidence? 61
31248898 2019
39
Diverticulum of common hepatic duct leading to obstructive jaundice, a case report. 61
31501706 2019
40
Female-restricted syndromic intellectual disability in a patient from Thailand. 61
30828969 2019
41
The long-term health-related quality of life in patients operated for choledochal cyst. 61
30762105 2019
42
Development of adenocarcinoma at the remnant intrapancreatic cyst 16 years after resection of the choledochal cyst. 61
31225424 2019
43
Choledochal Cyst and Malignancy: A Plea for Lifelong Follow-Up. 61
29258149 2019
44
A modified technique of single-incision laparoscopic hepaticojejunostomy for children with choledochal cysts. 61
30971256 2019
45
Cholangiocarcinoma in a Resected Biliary Cyst: Importance of Follow-up. 61
31263640 2019
46
ACTG2-Associated Visceral Myopathy With Chronic Intestinal Pseudoobstruction, Intestinal Malrotation, Hypertrophic Pyloric Stenosis, Choledochal Cyst, and a Novel Missense Mutation. 61
30019982 2019
47
The Double Trouble: A Case of Duplicated Extrahepatic Bile Duct with Choledochal Cyst. 61
30209736 2019
48
Coils migrate into the biliary-jejunum anastomosis: A case report. 61
30732121 2019
49
Laparoscopic Surgery in the treatment of children with Choledochal Cyst. 61
31258599 2019
50
EBV Infection Unmasking a Choledochal Cyst in an Infant. 61
30838151 2019

Variations for Bile Duct Cysts

Expression for Bile Duct Cysts

Search GEO for disease gene expression data for Bile Duct Cysts.

Pathways for Bile Duct Cysts

Pathways related to Bile Duct Cysts according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.23 ABCB4 ABCB11
2 9.74 KRAS HRAS

GO Terms for Bile Duct Cysts

Cellular components related to Bile Duct Cysts according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intercellular canaliculus GO:0046581 8.62 ABCB4 ABCB11

Biological processes related to Bile Duct Cysts according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 zymogen activation GO:0031638 9.37 GGT2 GGT1
2 response to isolation stress GO:0035900 9.32 KRAS HRAS
3 regulation of immune system process GO:0002682 9.26 GGT2 GGT1
4 peptide modification GO:0031179 9.16 GGT2 GGT1
5 leukotriene D4 biosynthetic process GO:1901750 9.13 GGTLC3 GGT2 GGT1
6 glutathione catabolic process GO:0006751 8.8 GGTLC3 GGT2 GGT1

Molecular functions related to Bile Duct Cysts according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptidyltransferase activity GO:0000048 8.96 GGT2 GGT1
2 glutathione hydrolase activity GO:0036374 8.8 GGTLC3 GGT2 GGT1

Sources for Bile Duct Cysts

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
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
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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