MCID: BLD063
MIFTS: 45

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 57 53 73
Choledochal Cyst 12 53 59 44 15 73
Congenital Choledochal Cyst 12 53
Choledochocele 57 53
Congenital Cystic Dilatation of the Biliary Tract 59
Choledochal Cysts 57

Classifications:

Orphanet: 59  
Rare hepatic diseases


External Ids:

OMIM 57 603003
Disease Ontology 12 DOID:899
ICD10 33 Q44.4
MeSH 44 D015529
NCIt 50 C2943
SNOMED-CT 68 30533003
Orphanet 59 ORPHA480501
MedGen 42 C0008340

Summaries for Bile Duct Cysts

MalaCards based summary : Bile Duct Cysts, also known as choledochal cyst, is related to biliary papillomatosis and bile duct adenocarcinoma. An important gene associated with Bile Duct Cysts is ACTG2 (Actin, Gamma 2, Smooth Muscle, Enteric), and among its related pathways/superpathways are VEGF Pathway (Qiagen) and Arrhythmogenic right ventricular cardiomyopathy (ARVC). The drugs Hydrocortisone acetate and Midazolam have been mentioned in the context of this disorder. Affiliated tissues include pancreas, liver and kidney, and related phenotype is Reduced mammosphere formation.

Wikipedia : 76 Choledochal cysts (a.k.a. bile duct cyst) are congenital conditions involving cystic dilatation of bile... more...

Description 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 129)
# Related Disease Score Top Affiliating Genes
1 biliary papillomatosis 30.4 HRAS KRAS
2 bile duct adenocarcinoma 29.9 HRAS KRAS
3 duodenal atresia 11.5
4 bile duct cancer 11.5
5 bile acid synthesis defect, congenital, 2 11.2
6 pancreatitis 10.7
7 biliary atresia 10.6
8 degos 'en cocarde' erythrokeratoderma 10.6
9 acute pancreatitis 10.4
10 adenocarcinoma 10.4
11 choledocholithiasis 10.3
12 obstructive jaundice 10.3
13 rhabdomyosarcoma 10.3
14 cholelithiasis 10.2
15 portal hypertension 10.2
16 peritonitis 10.2
17 embryonal rhabdomyosarcoma 10.2
18 intrahepatic cholangiocarcinoma 10.2
19 cholangitis 10.2
20 ascites, chylous 10.1
21 colonic atresia 10.1
22 cholecystitis 10.1
23 cystadenoma 10.1
24 gallbladder cancer 10.1
25 duodenal obstruction 10.1
26 adenoma 10.1
27 sigmoid neoplasm 10.1 HRAS KRAS
28 apocrine adenoma 10.1 HRAS KRAS
29 periampullary adenoma 10.1 HRAS KRAS
30 paronychia 10.1 HRAS KRAS
31 schimmelpenning-feuerstein-mims syndrome 10.1 HRAS KRAS
32 aggressive digital papillary adenocarcinoma 10.1 HRAS KRAS
33 appendix disease 10.1 HRAS KRAS
34 lung adenoid cystic carcinoma 10.1 HRAS KRAS
35 nasal cavity adenocarcinoma 10.1 HRAS KRAS
36 secondary hypertrophic osteoarthropathy 10.1 HRAS KRAS
37 anal canal adenocarcinoma 10.1 HRAS KRAS
38 ovarian cystadenocarcinoma 10.1 HRAS KRAS
39 acneiform dermatitis 10.1 HRAS KRAS
40 colloid carcinoma of the pancreas 10.1 HRAS KRAS
41 core binding factor acute myeloid leukemia 10.1 HRAS KRAS
42 biliary tract neoplasm 10.1 HRAS KRAS
43 mucinous lung adenocarcinoma 10.1 HRAS KRAS
44 duodenum cancer 10.1 HRAS KRAS
45 liver angiosarcoma 10.1 HRAS KRAS
46 cecum adenocarcinoma 10.1 HRAS KRAS
47 adenosquamous lung carcinoma 10.1 HRAS KRAS
48 costello syndrome 10.0 HRAS KRAS
49 ampulla of vater cancer 10.0 HRAS KRAS
50 gastrointestinal system benign neoplasm 10.0 HRAS KRAS

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

GenomeRNAi Phenotypes related to Bile Duct Cysts according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.02 ACTG2 AGER HRAS KRAS PCNT

Drugs & Therapeutics for Bile Duct Cysts

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

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
2
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
3
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
4
Etomidate Approved Phase 4 33125-97-2 667484 36339
5
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
6 GABA Agents Phase 4
7 Hydrocortisone 17-butyrate 21-propionate Phase 4
8 GABA Modulators Phase 4
9 Hydrocortisone-17-butyrate Phase 4
10 Adjuvants, Anesthesia Phase 4
11 Anesthetics, Intravenous Phase 4
12 Central Nervous System Depressants Phase 4
13 Anti-Anxiety Agents Phase 4
14 Anti-Inflammatory Agents Phase 4
15 Neurotransmitter Agents Phase 4
16 Tranquilizing Agents Phase 4
17 Psychotropic Drugs Phase 4
18 Anesthetics Phase 4,Not Applicable
19 Anesthetics, General Phase 4
20 Hypnotics and Sedatives Phase 4
21 Cortisol succinate Phase 4
22
Pancrelipase Approved, Investigational 53608-75-6
23 Protein C Inhibitor
24 Alpha 1-Antitrypsin
25 Liver Extracts
26 pancreatin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effects of Etomidate on Postoperative Circadian Rhythm Changes of Salivary Cortisol in Children Unknown status NCT02013986 Phase 4 etomidate;midazolam;propofol
2 Superior Bilioenteric Anastomosis by Magnetic Compressive Technique Recruiting NCT02801500 Not Applicable
3 Endoscopic Access Loop With Bilio-enteric Anastomosis: A Prospective Randomized Comparison Between Gastric and Subcutaneous Accesses Not yet recruiting NCT03252379 Not Applicable
4 Cytological Evaluation of Biliary Epithelium After Endoscopic Sphincterotomy Completed NCT01135732
5 Bilioenteric Anastomosis by Magnetic Compressive Technique Recruiting NCT03774589 Not Applicable
6 Shear Wave Sonoelastography in Pediatric Liver Fibrosis Completed NCT02372682
7 UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource Recruiting NCT01401998
8 Clinical and Molecular Investigations Into Ciliopathies Completed NCT00068224

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:

41
Pancreas, Liver, Kidney, Colon, Appendix, Lung, Ovary

Publications for Bile Duct Cysts

Articles related to Bile Duct Cysts:

(show top 50) (show all 960)
# Title Authors Year
1
Cystic biliary atresia: A distinct clinical entity that may mimic choledochal cyst. ( 29904486 )
2018
2
Proper bile duct flow, rather than radical excision, is the most critical factor determining treatment outcomes of bile duct cysts. ( 30139348 )
2018
3
Occurrence of signet-ring cell carcinoma with cholangiocarcinoma 25 years after choledochal cyst excision: A case report. ( 29465585 )
2018
4
ACTG2-Associated Visceral Myopathy With Chronic Intestinal Pseudoobstruction, Intestinal Malrotation, Hypertrophic Pyloric Stenosis, Choledochal Cyst, and a Novel Missense Mutation. ( 30019982 )
2018
5
Clinical significance of intrapancreatic choledochal cyst excision in surgical management of type I choledochal cyst. ( 29322850 )
2018
6
Comparative analysis of different hepatico-jejunostomy techniques for treating adult type I choledochal cyst. ( 29479444 )
2018
7
Choledochal Cyst And Biliary Stone. ( 29504349 )
2018
8
Type VI Choledochal Cyst: An Unusual Case of a Bile Duct Anomaly. ( 29559068 )
2018
9
Mixed Adenoneuroendocrine Carcinoma (MANEC) of the Distal Common Bile Duct Arising from a Choledochal Cyst. ( 29580366 )
2018
10
Ruptured choledochal cyst during early pregnancy with successful fetomaternal outcome. ( 29654104 )
2018
11
Per-operative modified rigid cholangioscopy for removal of intrahepatic stones associated with choledochal cyst in children. ( 29794365 )
2018
12
Giant choledochal cyst presenting during third trimester of pregnancy. ( 29898912 )
2018
13
Choledochal cyst in the pediatric population: experience of 13 laparoscopic procedures in two years at a single institution. ( 29995153 )
2018
14
Introduction of resection of intrahepatic bile duct stenosis-causing membrane or septum into laparoscopic choledochal cyst excision. ( 30073480 )
2018
15
Coexistence of Complete Pancreas Divisum and Anomalous Pancreaticobiliary Junction in a Patient With Type IA Choledochal Cyst. ( 30077786 )
2018
16
Robotic-assisted surgery for pediatric choledochal cyst: Case report and literature review. ( 30079341 )
2018
17
Bilateral ultrasound-guided erector spinae plane block for postoperative analgesia in choledochal cyst resection surgery. ( 30100862 )
2018
18
Laparoscopic evaluation and resection of type-II choledochal cyst arising from right hepatic duct mimicking gall bladder duplication. ( 30178764 )
2018
19
The Double Trouble: A Case of Duplicated Extrahepatic Bile Duct with Choledochal Cyst. ( 30209736 )
2018
20
Imaging Diagnosis of Type 3 Choledochal Cyst: A Case Report. ( 30266111 )
2018
21
An Unusual Case of Choledochal Cyst. ( 30370205 )
2018
22
Choledochal cyst of the proximal cystic duct: a taxonomical and therapeutic conundrum. ( 29181996 )
2018
23
The distal classification and management of choledochal cyst in adults: Based on the relation between cyst and pancreatic duct. ( 28328818 )
2017
24
Management of Complicated Choledochal Cyst in an Adult with Situs Inversus Totalis: Diagnostic Difficulties and Technical Notes. ( 29089712 )
2017
25
A rare case of choledochal cyst with pancreas divisum: case presentation and literature review. ( 28317046 )
2017
26
Duodenogastric regurgitation in hepaticoduodenostomy after excision of congenital biliary dilatation (choledochal cyst). ( 28410789 )
2017
27
Bile Duct Adenocarcinoma with Acute on Chronic Pancreatitis: A Rare Complication of Long Standing Choledochal Cyst. ( 28764249 )
2017
28
Cystic metastasis from a mucinous adenocarcinoma of duodenum mimicking type II choledochal cyst: A case report. ( 29290919 )
2017
29
Heterotopic pancreatic tissue associated with type 1 choledochal cyst, cystolithiasis and gall bladder stones: a rare entity with review of literature. ( 28396555 )
2017
30
Single-stage operation for perforated choledochal cyst. ( 28774506 )
2017
31
Giant Choledochal Cyst in A Neonate. ( 28083508 )
2017
32
An impressive choledochal cyst and its surgical resection. ( 28273606 )
2017
33
Laparoscopic excision of the choledochal cyst in adult patients: An experience. ( 28872095 )
2017
34
External Drainage of Giant Infantile Choledochal Cyst before Definitive Repair: Is it Worth? ( 28892977 )
2017
35
Ectopic Hepatocellular Carcinoma within a Choledochal Cyst Diagnosed Using Single-Operator Digital Cholangioscopy. ( 28766569 )
2017
36
Laparoscopic Management of a Proximal Jejunal Gallstone Ileus with Patulous Ampulla and Choledochal Cyst-a Report of Unusual Presentation and a Review. ( 28331267 )
2017
37
Choledochal Cyst with 17q12 Chromosomal Duplication. ( 28940454 )
2017
38
Spontaneous Rupture of a Choledochal Cyst During Post Partum: A Rare Presentation. ( 28496535 )
2017
39
Differentiation between cystic biliary atresia and choledochal cyst: A retrospective analysis. ( 29105184 )
2017
40
Adult's congenital bile duct cysts. ( 29512796 )
2017
41
Primary Epidermoid Cyst of Biliary Duct Presenting as Choledochal Cyst. ( 28508685 )
2017
42
Isolated dilatation of the cystic duct-Type VI choledochal cyst: a rare case presentation and review of the literature. ( 28458872 )
2017
43
Modified biliary-enteric anastomosis for congenital choledochal cyst: clinical and prognostic analysis of 91 cases. ( 28289881 )
2017
44
The efficacy of resection of intrahepatic bile duct stenosis-causing membrane or septum for preventing hepatolithiasis after choledochal cyst excision. ( 28927985 )
2017
45
Different clinical presentations of choledochal cyst among infants and older children: A 10-year retrospective study. ( 28445267 )
2017
46
Pancreaticobiliary Maljunctions in European Patients with Bile Duct Cysts. ( 29288314 )
2017
47
Type I Choledochal Cyst Complicated With Acute Hemorrhagic Pancreatitis: A Case Report. ( 30065499 )
2017
48
Choledochal Cyst and Malignancy: A Plea for Lifelong Follow-Up. ( 29258149 )
2017
49
Robotic assisted excision of type I choledochal cyst with Roux-en-y hepaticojejunostomy reconstruction. ( 29312974 )
2017
50
What is the Right Therapeutic Approach to Biliary Choledochal Cyst? ( 29485804 )
2017

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:

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.11 ACTG2 HRAS KRAS
2
Show member pathways
12.1 ACTG2 HRAS KRAS
3
Show member pathways
11.65 ACTG2 HRAS KRAS
4 11.35 HRAS KRAS
5 11.25 HRAS KRAS
6 11.17 HRAS KRAS
7 11.13 AGER HRAS KRAS
8 11.09 ACTG2 HRAS KRAS
9 11.04 HRAS KRAS
10 10.97 HRAS KRAS
11 10.95 HRAS KRAS
12
Show member pathways
10.92 HRAS KRAS
13
Show member pathways
10.85 HRAS KRAS
14 10.77 HRAS KRAS
15 10.71 HRAS KRAS
16 10.62 HRAS KRAS
17 10.56 ACTG2 HRAS KRAS
18 10.27 HRAS KRAS

GO Terms for Bile Duct Cysts

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

# Name GO ID Score Top Affiliating Genes
1 regulation of long-term neuronal synaptic plasticity GO:0048169 9.16 HRAS KRAS
2 positive regulation of protein phosphorylation GO:0001934 9.13 AGER HRAS KRAS
3 response to isolation stress GO:0035900 8.62 HRAS KRAS

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

# Name GO ID Score Top Affiliating Genes
1 GDP binding GO:0019003 8.62 HRAS KRAS

Sources for Bile Duct Cysts

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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