MCID: BLR001
MIFTS: 51

Biliary Atresia

Categories: Rare diseases, Gastrointestinal diseases, Liver diseases

Aliases & Classifications for Biliary Atresia

MalaCards integrated aliases for Biliary Atresia:

Name: Biliary Atresia 12 50 29 52 42 14 69
Non-Syndromic Biliary Atresia 50
Biliary Atresia, Congenital 12
Congenital Biliary Atresia 12
Atresia of Bile Duct 12

Classifications:



External Ids:

Disease Ontology 12 DOID:13608
ICD10 33 Q44.2
ICD9CM 35 751.61
MeSH 42 D001656
UMLS 69 C0005411

Summaries for Biliary Atresia

NIH Rare Diseases : 50 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 non-syndromic biliary atresia, is related to biliary atresia, extrahepatic and ichthyosis congenita biliary atresia, 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 Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. 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 146)
id Related Disease Score Top Affiliating Genes
1 biliary atresia, extrahepatic 12.3
2 ichthyosis congenita biliary atresia 11.9
3 biliary atresia with splenic malformation syndrome 11.9
4 biliary atresia intrahepatic non syndromic form 11.9
5 biliary atresia intrahepatic syndromic form 11.9
6 lambert syndrome 11.2
7 hepatoblastoma 11.2
8 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis 10.9
9 bile duct disease 10.9
10 hyperbiliverdinemia 10.9
11 bile acid synthesis defect, congenital, 2 10.9
12 bile acid synthesis defect, congenital, 1 10.9
13 anhidrosis 10.6 CTGF TGFB1
14 hepatitis 10.5
15 female infertility of uterine origin 10.5 ALB GPT
16 hemolytic-uremic syndrome 10.5 ALB GPT TGFB1
17 retinitis pigmentosa 17 10.5 ALB CTGF TGFB1
18 cataract 10.5 ALB HGF
19 acute lymphocytic leukemia 10.5 ALB GPT HGF
20 pancreatic cystadenocarcinoma 10.5 ALB GPT
21 cholera 10.5 CTGF TGFB1 TIMP1
22 chronic inflammatory demyelinating polyradiculoneuropathy 10.5 ALB CTGF TGFB1
23 papular elastorrhexis 10.5 MMP7 TIMP1
24 bubonic plague 10.5 ALB GPT TGFB1
25 paranasal sinus sarcoma 10.5 ALB GPT HGF
26 salt and pepper syndrome 10.4 CTGF TGFB1 TIMP1
27 perrault syndrome 10.4 CTGF HGF TGFB1
28 sarcocystosis 10.4 ALB CTGF
29 acromicric dysplasia 10.4 CTGF TGFB1
30 nervous system cancer 10.4 CTGF TGFB1 TIMP1
31 pulpitis 10.4 ALB TGFB1 TIMP1
32 calcinosis 10.4 ALB CTGF TGFB1
33 dermatomyositis 10.3 ALB GPT NR1H4
34 choledochal cyst 10.3
35 alport syndrome and thin basement membrane nephropathy 10.2 ABCB11 NR1H4
36 exudative vitreoretinopathy 1 10.2 CTGF HGF TGFB1 TIMP1
37 renal oncocytoma 10.2 CTGF HGF TGFB1 TIMP1
38 hereditary hemorrhagic telangiectasia 10.2 ALB GPT SLC10A1 TGFB1
39 cholestasis, intrahepatic, of pregnancy, 3 10.2 ABCB11 JAG1
40 cholestasis 10.2
41 cholangitis 10.2
42 cholestasis, benign recurrent intrahepatic, 2 10.2 ABCB11 NR1H4
43 isthmus cancer 10.1 ABCB11 ALB GPT
44 immunodeficiency 27b, mycobacteriosis, ad 10.1 MMP7 TIMP1
45 ascending cholangitis 10.1
46 esophagitis 10.1
47 trigonocephaly with short stature and developmental delay 10.1 ALB SPP1
48 erythroleukemia, familial 10.0 GPC1 JAG1
49 portal hypertension 10.0
50 situs inversus 10.0

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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.02 ADD3 CTGF HGF JAG1 MMP7 NR1H4
2 growth/size/body region MP:0005378 9.96 ABCB11 CTGF HGF JAG1 MMP7 NR1H4
3 homeostasis/metabolism MP:0005376 9.9 GPC1 JAG1 MMP7 NR1H4 SLC10A2 SPP1
4 digestive/alimentary MP:0005381 9.87 ALB CTGF JAG1 MMP7 NR1H4 SLC10A2
5 liver/biliary system MP:0005370 9.56 SPP1 TGFB1 ABCB11 ALB HGF JAG1
6 neoplasm MP:0002006 9.17 ALB GPC1 MMP7 NR1H4 SPP1 TGFB1

Drugs & Therapeutics for Biliary Atresia

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

(show top 50) (show all 72)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Meloxicam Approved, Vet_approved Phase 4 71125-38-7 5281106 54677470
2 Anti-Inflammatory Agents Phase 4,Phase 3
3 Analgesics Phase 4
4 Analgesics, Non-Narcotic Phase 4
5 Anti-Inflammatory Agents, Non-Steroidal Phase 4
6 Antirheumatic Agents Phase 4
7 Cyclooxygenase 2 Inhibitors Phase 4
8 Cyclooxygenase Inhibitors Phase 4
9 Liver Extracts Phase 4,Phase 2
10 Peripheral Nervous System Agents Phase 4
11
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
12
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
13 Antineoplastic Agents, Hormonal Phase 3
14 glucocorticoids Phase 3
15 Hormone Antagonists Phase 3
16 Hormones Phase 3
17 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
18 Methylprednisolone acetate Phase 3
19 Methylprednisolone Hemisuccinate Phase 3
20 Prednisolone acetate Phase 3
21 Prednisolone hemisuccinate Phase 3
22 Prednisolone phosphate Phase 3
23
Pentoxifylline Approved, Investigational Phase 2 6493-05-6 4740
24 Antibodies Phase 1, Phase 2
25 gamma-Globulins Phase 1, Phase 2
26 Immunoglobulins Phase 1, Phase 2
27 Immunoglobulins, Intravenous Phase 1, Phase 2
28 Rho(D) Immune Globulin Phase 1, Phase 2
29
Bilirubin Phase 2 635-65-4 5280352
30 Platelet Aggregation Inhibitors Phase 2
31 Protective Agents Phase 2
32 Antioxidants Phase 2
33 Pharmaceutical Solutions Phase 2
34 Phosphodiesterase Inhibitors Phase 2
35 Radiation-Protective Agents Phase 2
36 Vasodilator Agents Phase 2
37
Vancomycin Approved Phase 1 1404-90-6 441141 14969
38 Anti-Bacterial Agents Phase 1
39 Anti-Infective Agents Phase 1
40
Neomycin Approved, Vet_approved 1404-04-2 8378
41
Sevoflurane Approved, Vet_approved 28523-86-6 5206
42
Desflurane Approved 57041-67-5 42113
43
Isoflurane Approved, Vet_approved 26675-46-7 3763
44
Magnesium Sulfate Approved, Vet_approved 7487-88-9 24083
45
Protein C Approved
46
Pancrelipase Approved 53608-75-6
47 Anesthetics
48 Anesthetics, General
49 Anesthetics, Inhalation
50 Central Nervous System Depressants

Interventional clinical trials:

(show all 27)

id 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 Evaluation of Immune Function in Biliary Atresia Children With Prolonged Jaundice Unknown status NCT00155194
8 Survival With Own Liver of Conventional Versus Laparoscopic Kasai for Biliary Atresia Completed NCT01063699
9 Use of Probiotics to Prevent Cholangitis in Children With Biliary Atresia After the Kasai Portoenterostomy Completed NCT00166868 Lactobacillus casei rhamnosus (Lcr35);Neomycin
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 A Randomized, Double-Blinded, Placebo-Controlled Trial of Corticosteroid Therapy Following Portoenterostomy Completed NCT00294684 Corticosteroids;Placebo
13 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
14 the Correlation Between Non-invasive Indicators in Patients With Biliary Atresia Completed NCT02848573
15 Study of Magnesium Sulfate in Children With Reduced Bone Density Secondary to Chronic Cholestatic Liver Disease Completed NCT00007033 magnesium gluconate;magnesium sulfate
16 HEMOCC Study. Hemostasis in Cirrhotic Children. Completed NCT03244332
17 Biliary Atresia Study in Infants and Children Recruiting NCT00345553
18 Ultrasound Shear Wave Elastography Evaluation of Suspected and Known Biliary Atresia Recruiting NCT02652533
19 Trail to Investigate the Effectiveness of CoSeal in Reducing Adhesions Following the Kasai Hepatoportoenterostomy for Biliary Atresia Recruiting NCT01745991
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 FibroScan™ in Pediatric Cholestatic Liver Disease Study Protocol Enrolling by invitation NCT02922751
27 Transfusion Strategies for Pediatric Liver Transplantation Not yet recruiting NCT02951013

Search NIH Clinical Center for Biliary Atresia

Cochrane evidence based reviews: biliary atresia

Genetic Tests for Biliary Atresia

Genetic tests related to Biliary Atresia:

id Genetic test Affiliating Genes
1 Biliary Atresia 29

Anatomical Context for Biliary Atresia

MalaCards organs/tissues related to Biliary Atresia:

39
Liver, Bone, T Cells, Testes, Lymph Node, Pancreas, Heart

Publications for Biliary Atresia

Articles related to Biliary Atresia:

(show top 50) (show all 788)
id Title Authors Year
1
Association of common genetic variants in VEGFA with biliary atresia susceptibility in Northwestern Han Chinese. ( 28710035 )
2017
2
Outcome of Biliary Atresia After Kasai's Portoenterostomy: Few Concerns. ( 28891486 )
2017
3
Liver stiffness measurements with supersonic shear wave elastography in the diagnosis of biliary atresia: a comparative study with grey-scale US. ( 28083694 )
2017
4
Cxcr2 signaling and the microbiome suppress inflammation, bile duct injury, and the phenotype of experimental biliary atresia. ( 28763485 )
2017
5
Achondroplasia and Biliary Atresia: A Rare Association and Review of Literature. ( 28497003 )
2017
6
Infiltration of polarized macrophages associated with liver fibrosis in infants with biliary atresia. ( 28927974 )
2017
7
Prognostic factors indicating survival with native liver after Kasai procedure for biliary atresia. ( 28852838 )
2017
8
Quality of Life and Parental Worrying in A National Cohort of Biliary Atresia Children Living with Their Native Livers. ( 28060195 )
2017
9
MicroRNA-19b Expression in Human Biliary Atresia Specimens and Its Role in BA-Related Fibrosis. ( 28083843 )
2017
10
Embryonic cholecystitis and defective gallbladder contraction in the Sox17-haploinsufficient mouse model of biliary atresia. ( 28432216 )
2017
11
Association between Promoter Hypomethylation and Overexpression of Autotaxin with Outcome Parameters in Biliary Atresia. ( 28052132 )
2017
12
Downregulation of microRNA-145 may contribute to liver fibrosis in biliary atresia by targeting ADD3. ( 28902846 )
2017
13
Review of redo-Kasai portoenterostomy for biliary atresia in the transition to the liver transplantation era. ( 28878446 )
2017
14
A case of biliary atresia with pancreaticobiliary maljunction. ( 28871567 )
2017
15
The parameters that help to differentiate biliary atresia from other diseases. ( 28802084 )
2017
16
Outcomes of laparoscopic Kasai portoenterostomy for biliary atresia: A systematic review. ( 28007417 )
2017
17
50 Years Ago in The Journal of Pediatrics: Diagnosis of Biliary Atresia: Relative Accuracy of Percutaneous Liver Biopsy, Open Liver Biopsy, and Operative Cholangiography. ( 28947052 )
2017
18
Onset ages of hepatopulmonary syndrome and pulmonary hypertension in patients with biliary atresia. ( 28871319 )
2017
19
Adjuvant therapy in biliary atresia: hopelessly optimistic or potential for change? ( 28940004 )
2017
20
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
21
Outcome of Biliary Atresia After Kasai's Portoenterostomy: Few Concerns: Author's Reply. ( 28891487 )
2017
22
Living donor liver transplantation for biliary atresia: An analysis of 2085 cases in the registry of the Japanese Liver Transplantation Society. ( 28889651 )
2017
23
An iPhone application using a novel stool color detection algorithm for biliary atresia screening. ( 28819683 )
2017
24
Cystic Biliary Atresia and Choledochal Cysts are Distinct Histopathologic Entities. ( 28079575 )
2017
25
Effects of recipient size and allograft type on pediatric liver transplantation for biliary atresia. ( 27862929 )
2017
26
Adjuvant steroid treatment following Kasai portoenterostomy and clinical outcomes of biliary atresia patients: an updated meta-analysis. ( 27830578 )
2017
27
Incidence of Biliary Atresia and Timing of Hepatoportoenterostomy in the United States. ( 28746031 )
2017
28
Preterm Infants With Biliary Atresia: A Nationwide Cohort Analysis From The Netherlands. ( 28727655 )
2017
29
Imaging findings of Alagille syndrome in young infants: differentiation from biliary atresia. ( 28749707 )
2017
30
Outcomes of biliary atresia in the Nordic countries - a multicenter study of 158 patients during 2005-2016. ( 28947328 )
2017
31
Fn14 hepatic progenitor cells are associated with liver fibrosis in biliary atresia. ( 28180936 )
2017
32
The extended Kasai portoenterostomy for biliary atresia: A preliminary report. ( 27046977 )
2016
33
Increased MMP-7 expression in biliary epithelium and serum underpins native liver fibrosis after successful portoenterostomy in biliary atresia. ( 27499927 )
2016
34
The SRL peptide of rhesus rotavirus VP4 protein governs cholangiocyte infection and the murine model of biliary atresia. ( 27859498 )
2016
35
Long-term outcomes after revision of Kasai portoenterostomy for biliary atresia. ( 27591751 )
2016
36
Liver transplantation in infants with biliary atresia: comparison of primary versus temporary abdominal closure. ( 27812908 )
2016
37
Two Case Reports of FGF23-Induced Hypophosphatemia in Childhood Biliary Atresia. ( 27462066 )
2016
38
The Kampo medicine "Daikenchuto (TU-100)" prevents bacterial translocation and hepatic fibrosis in a rat model of biliary atresia. ( 26994485 )
2016
39
Liquid chromatography-mass spectroscopy as a tool in the rapid diagnosis of biliary atresia: a pilot study. ( 26995515 )
2016
40
Idiopathic neonatal hepatitis or extrahepatic biliary atresia? The role of liver biopsy. ( 27651555 )
2016
41
Biliary Atresia: Indications and Timing of Liver Transplantation and Optimization of Pre-Transplant Care. ( 27650268 )
2016
42
Toll-like receptor 3 mediates PROMININ-1 expressing cell expansion in biliary atresia via Transforming Growth Factor-Beta. ( 27059791 )
2016
43
Expression of fibroblast growth factor 21 in patients with biliary atresia. ( 27003131 )
2016
44
Hepatic pathology of biliary atresia: A new comprehensive evaluation method using liver biopsy. ( 27210782 )
2016
45
Hepatoblastoma in Explanted Livers of Patients With Biliary Atresia. ( 27457778 )
2016
46
Loss of a Candidate Biliary Atresia Susceptibility Gene, add3a, Causes Biliary Developmental Defects in Zebrafish. ( 27526058 )
2016
47
Analysis of the prognostic factors of long-term native liver survival in survivors of biliary atresia. ( 27464487 )
2016
48
Classification of biliary atresia in the laparoscopic era. ( 27655364 )
2016
49
Infant Stool Color Card Screening Helps Reduce the Hospitalization Rate and Mortality of Biliary Atresia: A 14-Year Nationwide Cohort Study in Taiwan. ( 27015203 )
2016
50
Ultrasound for the Diagnosis of Biliary Atresia: A Meta-Analysis. ( 27010179 )
2016

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:

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.85 ALB CFC1 CTGF GPC1 HGF JAG1
2 proteinaceous extracellular matrix GO:0005578 9.65 CTGF GPC1 MMP7 TGFB1 TIMP1
3 extracellular space GO:0005615 9.61 ALB CTGF GPC1 GPT HGF MMP7
4 extracellular matrix GO:0031012 9.5 MMP7 TGFB1 TIMP1
5 platelet alpha granule lumen GO:0031093 8.92 ALB HGF TGFB1 TIMP1

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

id Name GO ID Score Top Affiliating Genes
1 Notch signaling pathway GO:0007219 9.58 JAG1 NR1H4 TGFB1
2 response to organic substance GO:0010033 9.5 SPP1 TGFB1 TIMP1
3 positive regulation of collagen biosynthetic process GO:0032967 9.46 CTGF TGFB1
4 aging GO:0007568 9.46 CTGF MMP7 TGFB1 TIMP1
5 response to vitamin D GO:0033280 9.43 SPP1 TGFB1
6 extracellular matrix disassembly GO:0022617 9.43 MMP7 SPP1 TIMP1
7 cell activation GO:0001775 9.37 TGFB1 TIMP1
8 platelet degranulation GO:0002576 9.26 ALB HGF TGFB1 TIMP1
9 bile acid and bile salt transport GO:0015721 9.02 ABCB11 ALB NR1H4 SLC10A1 SLC10A2

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

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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