MCID: BLR001
MIFTS: 56

Biliary Atresia

Categories: Rare diseases, Gastrointestinal diseases, Liver diseases

Aliases & Classifications for Biliary Atresia

MalaCards integrated aliases for Biliary Atresia:

Name: Biliary Atresia 12 72 49 36 28 51 41 14 69
Isolated Atresia of Bile Ducts 49
Non-Syndromic Biliary Atresia 49
Biliary Atresia, Congenital 12
Congenital Biliary Atresia 12
Isolated Biliary Atresia 49
Atresia of Bile Duct 12

Classifications:



External Ids:

Disease Ontology 12 DOID:13608
ICD10 32 Q44.2
ICD9CM 34 751.61
MeSH 41 D001656
KEGG 36 H01855
UMLS 69 C0005411

Summaries for Biliary Atresia

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 30391Disease definitionBiliary atresia is a rare, progressive obliterative cholangiopathy of the extrahepatic bile ducts, occuring in the embryonic/ perinatal period, leading to severe and persistent jaundice and acholic stool with an unfavorable course in the absence of treatment.Visit the Orphanet disease page for more resources. Last updated: 10/1/2016

MalaCards based summary : Biliary Atresia, also known as isolated atresia of bile ducts, is related to bile duct disease and obstructive jaundice, and has symptoms including icterus An important gene associated with Biliary Atresia is SLC10A1 (Solute Carrier Family 10 Member 1), and among its related pathways/superpathways are Apelin signaling pathway and Synthesis of bile acids and bile salts. The drugs Meloxicam and Anti-Inflammatory Agents have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and t cells, and related phenotypes are cardiovascular system and growth/size/body region

Disease Ontology : 12 A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder.

Wikipedia : 72 Biliary atresia, also known as extrahepatic ductopenia and progressive obliterative cholangiopathy, is a... more...

Related Diseases for Biliary Atresia

Diseases related to Biliary Atresia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 159)
# Related Disease Score Top Affiliating Genes
1 bile duct disease 31.0 ALB GPT NR1H4 SLC10A1 SLC10A2
2 obstructive jaundice 29.9 ALB GPT HGF
3 liver disease 29.9 ALB GPT HGF NR1H4 TGFB1
4 cholestasis 29.8 GPT JAG1 NR1H4 SLC10A1 SLC10A2
5 hepatitis b 29.7 ALB GPT SLC10A1 TGFB1
6 intrahepatic cholestasis 29.5 ALB JAG1 NR1H4 SLC10A2
7 cholangiocarcinoma 29.3 HGF KRT7 MMP7
8 liver cirrhosis 29.1 ALB CTGF GPT HGF TGFB1 TIMP1
9 biliary atresia, extrahepatic 12.5
10 ichthyosis congenita with biliary atresia 12.2
11 biliary atresia intrahepatic non syndromic form 12.0
12 biliary atresia intrahepatic syndromic form 12.0
13 biliary atresia with splenic malformation syndrome 12.0
14 lambert syndrome 11.5
15 hepatoblastoma 11.3
16 bile acid synthesis defect, congenital, 2 11.0
17 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis 11.0
18 bile acid synthesis defect, congenital, 1 11.0
19 hyperbiliverdinemia 11.0
20 hepatitis 10.6
21 fibrosis of extraocular muscles, congenital, 1 10.4
22 cholecystolithiasis 10.4 CTGF TGFB1
23 kwashiorkor 10.4 ALB GPT
24 burns 10.4 ALB HGF
25 hepatic tuberculosis 10.4 ALB GPT
26 bile duct cysts 10.3
27 hepatitis a 10.3 ALB GPT TGFB1
28 stiff skin syndrome 10.3 CTGF TGFB1
29 microvascular complications of diabetes 3 10.3 ALB CTGF TGFB1
30 acute liver failure 10.3 ALB GPT HGF
31 mid-dermal elastolysis 10.3 MMP7 TIMP1
32 kidney hypertrophy 10.3 ALB CTGF
33 urinary tract obstruction 10.3 ALB CTGF TGFB1
34 renal fibrosis 10.3 CTGF HGF TGFB1
35 gingival disease 10.3 CTGF TGFB1 TIMP1
36 viral hepatitis 10.3 ALB GPT MX1
37 urinary system disease 10.3 ALB CTGF TGFB1
38 cholangitis 10.3
39 gingival overgrowth 10.2 CTGF TGFB1 TIMP1
40 hydronephrosis 10.2 ALB TGFB1 TIMP1
41 gingival fibromatosis 10.2 CTGF TGFB1 TIMP1
42 hepatic coma 10.2 ALB GPT
43 aging 10.2
44 cholelithiasis 10.2 ALB GPT NR1H4
45 pulmonary fibrosis 10.2 CTGF TGFB1 TIMP1
46 alagille syndrome 1 10.1
47 esophagitis 10.1
48 ascending cholangitis 10.1
49 portal hypertension 10.1
50 situs inversus 10.1

Graphical network of the top 20 diseases related to Biliary Atresia:



Diseases related to Biliary Atresia

Symptoms & Phenotypes for Biliary Atresia

UMLS symptoms related to Biliary Atresia:


icterus

MGI Mouse Phenotypes related to Biliary Atresia:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.1 ADD3 NR1H4 CTGF SPP1 HGF JAG1
2 growth/size/body region MP:0005378 10.02 NR1H4 SLC10A2 CTGF HGF SPP1 JAG1
3 homeostasis/metabolism MP:0005376 10 NR1H4 ALB SLC10A2 CTGF SPP1 JAG1
4 digestive/alimentary MP:0005381 9.97 NR1H4 ALB CTGF SLC10A2 JAG1 TGFB1
5 liver/biliary system MP:0005370 9.81 NR1H4 ALB CTGF SLC10A2 SPP1 HGF
6 neoplasm MP:0002006 9.5 NR1H4 ALB SPP1 TGFB1 TIMP1 MMP7
7 skeleton MP:0005390 9.23 NR1H4 CTGF GPT SPP1 JAG1 TGFB1

Drugs & Therapeutics for Biliary Atresia

Drugs for Biliary Atresia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 75)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Meloxicam Approved, Vet_approved Phase 4 71125-38-7 54677470 5281106
2 Anti-Inflammatory Agents Phase 4,Phase 3
3 Analgesics Phase 4
4 Cyclooxygenase 2 Inhibitors Phase 4
5 Cyclooxygenase Inhibitors Phase 4
6 Analgesics, Non-Narcotic Phase 4
7 Peripheral Nervous System Agents Phase 4
8 Anti-Inflammatory Agents, Non-Steroidal Phase 4
9 Liver Extracts Phase 4,Phase 2
10 Antirheumatic Agents Phase 4
11
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
12
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
13 Prednisolone acetate Phase 3
14 glucocorticoids Phase 3
15 Methylprednisolone acetate Phase 3
16 Methylprednisolone Hemisuccinate Phase 3
17 Hormone Antagonists Phase 3
18 Hormones Phase 3
19 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
20 Prednisolone hemisuccinate Phase 3
21 Prednisolone phosphate Phase 3
22 Antineoplastic Agents, Hormonal Phase 3
23
Pentoxifylline Approved, Investigational Phase 2 6493-05-6 4740
24
Bilirubin Phase 2 635-65-4 5280352
25 Rho(D) Immune Globulin Phase 1, Phase 2
26 gamma-Globulins Phase 1, Phase 2
27 Immunoglobulins Phase 1, Phase 2
28 Platelet Aggregation Inhibitors Phase 2
29 Immunoglobulins, Intravenous Phase 1, Phase 2
30 Protective Agents Phase 2
31 Antibodies Phase 1, Phase 2
32 Vasodilator Agents Phase 2
33 Pharmaceutical Solutions Phase 2
34 Phosphodiesterase Inhibitors Phase 2
35 Radiation-Protective Agents Phase 2
36 Antioxidants Phase 2
37
Vancomycin Approved Phase 1 1404-90-6 14969 441141
38 Anti-Bacterial Agents Phase 1
39 Anti-Infective Agents Phase 1
40
Neomycin Approved, Vet_approved 1404-04-2 8378
41
Isoflurane Approved, Vet_approved 26675-46-7 3763
42
Sevoflurane Approved, Vet_approved 28523-86-6 5206
43
Magnesium Sulfate Approved, Investigational, Vet_approved 7487-88-9 24083
44
Desflurane Approved 57041-67-5 42113
45
Pancrelipase Approved, Investigational 53608-75-6
46
Protein C Approved
47
Lenograstim Approved, Investigational Early Phase 1 135968-09-1
48 calcium channel blockers
49 Central Nervous System Depressants
50 Gastrointestinal Agents

Interventional clinical trials:

(show all 29)

# Name Status NCT ID Phase Drugs
1 Clinical Study About the Role of COX-2 Inhibitor in Liver Cirrhosis With Biliary Atresia Completed NCT02298218 Phase 4 Meloxicam
2 RCT of Steroids Following Kasai Portoenterostomy for Biliary Atresia. Unknown status NCT00539565 Phase 3 prednisolone;placebo
3 Safety Study of Intravenous Immunoglobulin (IVIG) Post-Portoenterostomy in Infants With Biliary Atresia Completed NCT01854827 Phase 1, Phase 2 Intravenous immunoglobulin (IVIG)
4 Pentoxifylline Therapy in Biliary Atresia Recruiting NCT01774487 Phase 2 Pentoxifylline
5 Gastrointestinal Microbiota in Primary Sclerosing Cholangitis and Biliary Atresia With Vancomycin Completed NCT01322386 Phase 1 Vancomycin
6 Treating Primary Sclerosing Cholangitis and Biliary Atresia With Vancomycin Recruiting NCT02137668 Phase 1 Oral Vancomycin
7 Trail to Investigate the Effectiveness of CoSeal in Reducing Adhesions Following the Kasai Hepatoportoenterostomy for Biliary Atresia Unknown status NCT01745991
8 Evaluation of Immune Function in Biliary Atresia Children With Prolonged Jaundice Unknown status NCT00155194
9 Survival With Own Liver of Conventional Versus Laparoscopic Kasai for Biliary Atresia Completed NCT01063699
10 Biliary Atresia, Hepatic Buffer Response and Sevoflurane Completed NCT02471209 Sevoflurane
11 Maternal Microchimerism in Lymph Nodes of Infants With Biliary Atresia at Time of Kasai's Operation Completed NCT02292862
12 Use of Probiotics to Prevent Cholangitis in Children With Biliary Atresia After the Kasai Portoenterostomy Completed NCT00166868 Lactobacillus casei rhamnosus (Lcr35);Neomycin
13 A Randomized, Double-Blinded, Placebo-Controlled Trial of Corticosteroid Therapy Following Portoenterostomy Completed NCT00294684 Corticosteroids;Placebo
14 The Comparison of Desflurane and Sevoflurane on Postoperative Recovery and Hepatic Function of Biliary Atresia Patients During Kasai Operation Completed NCT01443572 desflurane anesthetics;sevoflurane anesthetics
15 the Correlation Between Non-invasive Indicators in Patients With Biliary Atresia Completed NCT02848573
16 Study of Magnesium Sulfate in Children With Reduced Bone Density Secondary to Chronic Cholestatic Liver Disease Completed NCT00007033 magnesium gluconate;magnesium sulfate
17 HEMOCC Study. Hemostasis in Cirrhotic Children. Completed NCT03244332
18 Ultrasound Shear Wave Elastography Evaluation of Suspected and Known Biliary Atresia Recruiting NCT02652533
19 Biliary Atresia Study in Infants and Children Recruiting NCT00345553
20 Mapping Disease Pathways for Biliary Atresia Recruiting NCT03273049
21 PROBE: A Prospective Database of Infants With Cholestasis Recruiting NCT00061828
22 Clinical and Basic Study for Pediatric Liver Transplantation Recruiting NCT02503384
23 Polygen Defi-Alpha: Genetic Polymorphisms Study in Children With Alpha-1 Antitrypsin Deficiency, Included in the DEFI-ALPHA Cohort Recruiting NCT01862211
24 Shear Wave Sonoelastography in Pediatric Liver Fibrosis Recruiting NCT02372682
25 Evaluating the Genetic Causes and Progression of Cholestatic Liver Diseases (LOGIC) Recruiting NCT00571272
26 GCSF Adjunct Therapy for Biliary Atresia Enrolling by invitation NCT03395028 Early Phase 1 Granulocyte Colony-Stimulating Factor
27 FibroScan™ in Pediatric Cholestatic Liver Disease Study Protocol Enrolling by invitation NCT02922751
28 Transfusion Strategies for Pediatric Liver Transplantation Not yet recruiting NCT02951013
29 Increased Liver Stiffness: A Study of Acoustic Radiation Force Impulse (ARFI) Elastography Not yet recruiting NCT03382119

Search NIH Clinical Center for Biliary Atresia

Cochrane evidence based reviews: biliary atresia

Genetic Tests for Biliary Atresia

Genetic tests related to Biliary Atresia:

# Genetic test Affiliating Genes
1 Biliary Atresia 28

Anatomical Context for Biliary Atresia

MalaCards organs/tissues related to Biliary Atresia:

38
Liver, Bone, T Cells, Testes, Lymph Node, Pancreas, Heart

Publications for Biliary Atresia

Articles related to Biliary Atresia:

(show top 50) (show all 811)
# Title Authors Year
1
Increased expression of senescence-associated cell cycle regulators in the progression of biliary atresia: an immunohistochemical study. ( 29392752 )
2018
2
Multiple successful pregnancies in a woman with biliary atresia and native liver. ( 29279142 )
2018
3
Extracorporeal Membrane Oxygenation in a Patient with Biliary Atresia: Case and Review of Extracorporeal Life Support Organization Data. ( 29419536 )
2018
4
Multiple glycolytic enzymes are antigens also in biliary atresia. ( 29432777 )
2018
5
Early differential diagnosis methods of biliary atresia: a meta-analysis. ( 29397405 )
2018
6
Liver graft-to-spleen volume ratio as a useful predictive factor of the early graft function in children and young adults transplanted for biliary atresia. ( 29424478 )
2018
7
Autoimmune liver disease-related autoantibodies in patients with biliary atresia. ( 29391761 )
2018
8
Resolving Malnutrition With Parenteral Nutrition Before Liver Transplant in Biliary Atresia. ( 29356765 )
2018
9
Reduced Immunohistochemical Expression of Hnf1I^ and FoxA2 in Liver Tissue Can Discriminate Between Biliary Atresia and Other Causes of Neonatal Cholestasis. ( 29406331 )
2018
10
Synthesis and Structure-Activity Relationship Study of Biliatresone, a Plant Isoflavonoid That Causes Biliary Atresia. ( 29348813 )
2018
11
Waiting list mortality of young patients with biliary atresia: Competing risk analysis of an Eurotransplant registry-based cohort. ( 29377411 )
2018
12
Transcription Factor GATA6: A Novel Marker and Putative Inducer of Ductal Metaplasia in Biliary Atresia. ( 29388792 )
2018
13
Intrahepatic bile duct primary cilia in biliary atresia. ( 29330965 )
2018
14
Factors Influencing Time-to-Diagnosis of Biliary Atresia. ( 29315162 )
2018
15
Biliary tract: MMP7 - a diagnostic biomarker for biliary atresia. ( 29235550 )
2018
16
Clinical and pathological features of patients with biliary atresia who survived for more than 5A years with native liver. ( 29427257 )
2018
17
Laparoscopic cholangiogram in biliary atresia: a refinement in the gallbladder hitch technique. ( 29427256 )
2018
18
Mitochondrial Mutations in Cholestatic Liver Disease with Biliary Atresia. ( 29343773 )
2018
19
Outcome of Biliary Atresia After Kasai's Portoenterostomy: Few Concerns: Author's Reply. ( 28891487 )
2017
20
Downregulation of microRNA-145 may contribute to liver fibrosis in biliary atresia by targeting ADD3. ( 28902846 )
2017
21
Utility of hepatobiliary scintigraphy in diagnosing or excluding biliary atresia in premature neonates and full-term infants with conjugated hyperbilirubinemia who received parenteral nutrition. ( 28818034 )
2017
22
Incidence of Biliary Atresia and Timing of Hepatoportoenterostomy in the United States. ( 28746031 )
2017
23
The parameters that help to differentiate biliary atresia from other diseases. ( 28802084 )
2017
24
Association of common genetic variants in VEGFA with biliary atresia susceptibility in Northwestern Han Chinese. ( 28710035 )
2017
25
Outcome of Biliary Atresia After Kasai's Portoenterostomy: Few Concerns. ( 28891486 )
2017
26
Cxcr2 signaling and the microbiome suppress inflammation, bile duct injury, and the phenotype of experimental biliary atresia. ( 28763485 )
2017
27
Infiltration of polarized macrophages associated with liver fibrosis in infants with biliary atresia. ( 28927974 )
2017
28
Late complications of biliary atresia: hepatopulmonary syndrome and portopulmonary hypertension. ( 28983709 )
2017
29
Adjuvant steroid treatment following Kasai portoenterostomy and clinical outcomes of biliary atresia patients: an updated meta-analysis. ( 27830578 )
2017
30
Prognostic factors indicating survival with native liver after Kasai procedure for biliary atresia. ( 28852838 )
2017
31
Laparoscopic finding of a hepatic subcapsular spider-like telangiectasis sign in biliary atresia. ( 29093620 )
2017
32
Association between Promoter Hypomethylation and Overexpression of Autotaxin with Outcome Parameters in Biliary Atresia. ( 28052132 )
2017
33
Outcomes of laparoscopic Kasai portoenterostomy for biliary atresia: A systematic review. ( 28007417 )
2017
34
Notch signaling promotes ductular reactions in biliary atresia. ( 28688656 )
2017
35
Adjuvant therapy in biliary atresia: hopelessly optimistic or potential for change? ( 28940004 )
2017
36
Imaging findings of Alagille syndrome in young infants: differentiation from biliary atresia. ( 28749707 )
2017
37
Living donor liver transplantation for biliary atresia: An analysis of 2085 cases in the registry of the Japanese Liver Transplantation Society. ( 28889651 )
2017
38
Fn14 hepatic progenitor cells are associated with liver fibrosis in biliary atresia. ( 28180936 )
2017
39
An iPhone application using a novel stool color detection algorithm for biliary atresia screening. ( 28819683 )
2017
40
Preterm Infants With Biliary Atresia: A Nationwide Cohort Analysis From The Netherlands. ( 28727655 )
2017
41
Successful Outcome and Biliary Drainage in an Infant with Concurrent Alpha-1-Antitrypsin Deficiency and Biliary Atresia. ( 29318077 )
2017
42
MicroRNA-19b Expression in Human Biliary Atresia Specimens and Its Role in BA-Related Fibrosis. ( 28083843 )
2017
43
Achondroplasia and Biliary Atresia: A Rare Association and Review of Literature. ( 28497003 )
2017
44
Liver stiffness measurements with supersonic shear wave elastography in the diagnosis of biliary atresia: a comparative study with grey-scale US. ( 28083694 )
2017
45
Effects of recipient size and allograft type on pediatric liver transplantation for biliary atresia. ( 27862929 )
2017
46
Embryonic cholecystitis and defective gallbladder contraction in the Sox17-haploinsufficient mouse model of biliary atresia. ( 28432216 )
2017
47
Quality of Life and Parental Worrying in A National Cohort of Biliary Atresia Children Living with Their Native Livers. ( 28060195 )
2017
48
Outcomes of biliary atresia in the Nordic countries - a multicenter study of 158 patients during 2005-2016. ( 28947328 )
2017
49
Cystic Biliary Atresia and Choledochal Cysts are Distinct Histopathologic Entities. ( 28079575 )
2017
50
Association of polymorphism in the VEGFA gene 3'-UTR +936T/C with susceptibility to biliary atresia in a Southern Chinese Han population. ( 29251369 )
2017

Variations for Biliary Atresia

Expression for Biliary Atresia

Search GEO for disease gene expression data for Biliary Atresia.

Pathways for Biliary Atresia

GO Terms for Biliary Atresia

Cellular components related to Biliary Atresia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.81 ALB CFC1 CTGF HGF JAG1 MMP7
2 proteinaceous extracellular matrix GO:0005578 9.56 CTGF MMP7 TGFB1 TIMP1
3 extracellular space GO:0005615 9.56 ALB CTGF GPT HGF MMP7 SPP1
4 platelet alpha granule lumen GO:0031093 8.92 ALB HGF TGFB1 TIMP1

Biological processes related to Biliary Atresia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Notch signaling pathway GO:0007219 9.61 JAG1 NR1H4 TGFB1
2 aging GO:0007568 9.56 CTGF MMP7 TGFB1 TIMP1
3 response to organic substance GO:0010033 9.54 SPP1 TGFB1 TIMP1
4 extracellular matrix disassembly GO:0022617 9.5 MMP7 SPP1 TIMP1
5 positive regulation of collagen biosynthetic process GO:0032967 9.48 CTGF TGFB1
6 response to vitamin D GO:0033280 9.46 SPP1 TGFB1
7 platelet degranulation GO:0002576 9.46 ALB HGF TGFB1 TIMP1
8 regulation of receptor activity GO:0010469 9.43 CTGF HGF JAG1 SPP1 TGFB1 TIMP1
9 cell activation GO:0001775 9.4 TGFB1 TIMP1
10 bile acid and bile salt transport GO:0015721 8.92 ALB NR1H4 SLC10A1 SLC10A2

Molecular functions related to Biliary Atresia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.02 CTGF HGF JAG1 TGFB1 TIMP1
2 bile acid:sodium symporter activity GO:0008508 8.96 SLC10A1 SLC10A2

Sources for Biliary Atresia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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