MCID: BLR001
MIFTS: 57

Biliary Atresia

Categories: Gastrointestinal diseases, Liver diseases, Rare diseases

Aliases & Classifications for Biliary Atresia

MalaCards integrated aliases for Biliary Atresia:

Name: Biliary Atresia 12 77 54 38 30 56 45 15 74
Isolated Atresia of Bile Ducts 54
Non-Syndromic Biliary Atresia 54
Biliary Atresia, Congenital 12
Congenital Biliary Atresia 12
Isolated Biliary Atresia 54
Atresia of Bile Duct 12

Classifications:



External Ids:

Disease Ontology 12 DOID:13608
KEGG 38 H01855
ICD9CM 36 751.61
MeSH 45 D001656
NCIt 51 C34421
SNOMED-CT 69 77480004
ICD10 34 Q44.2
UMLS 74 C0005411

Summaries for Biliary Atresia

NIH Rare Diseases : 54 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.

MalaCards based summary : Biliary Atresia, also known as isolated atresia of bile ducts, is related to infantile liver failure syndrome 1 and ascending cholangitis, and has symptoms including icterus An important gene associated with Biliary Atresia is GPT (Glutamic--Pyruvic Transaminase), and among its related pathways/superpathways are Immune response IFN alpha/beta 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, testes and bone, and related phenotypes are Reduced mammosphere formation and cardiovascular system

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

Wikipedia : 77 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 185)
# Related Disease Score Top Affiliating Genes
1 infantile liver failure syndrome 1 30.7 ALB GPT
2 ascending cholangitis 30.6 ALB TGFB1
3 bile duct disease 30.5 ALB ATP8B1 GPT KRT7 NR1H4 SLC10A1
4 obstructive jaundice 30.5 ALB GPT HGF
5 acute liver failure 30.3 ALB GPT HGF
6 hepatitis b 30.2 ALB GPT SLC10A1 TGFB1
7 cholestasis 30.1 ATP8B1 GPT JAG1 NR1H4 SLC10A1 SLC10A2
8 viral hepatitis 30.0 ALB GPT MX1
9 liver disease 29.9 ALB ATP8B1 GPT HGF NR1H4 TGFB1
10 cholangiocarcinoma 29.9 HGF KRT7 MMP7 TGFB1
11 liver cirrhosis 29.9 ALB GPT HGF TGFB1 TIMP1
12 biliary atresia, extrahepatic 12.7
13 ichthyosis congenita with biliary atresia 12.4
14 biliary atresia intrahepatic non syndromic form 12.2
15 biliary atresia intrahepatic syndromic form 12.2
16 biliary atresia with splenic malformation syndrome 12.2
17 lambert syndrome 11.7
18 hepatoblastoma 11.5
19 bile acid synthesis defect, congenital, 2 11.2
20 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis 11.2
21 bile acid synthesis defect, congenital, 1 11.2
22 hyperbiliverdinemia 11.2
23 hepatitis 10.8
24 cholangitis 10.7
25 bile duct cysts 10.5
26 portal hypertension 10.5
27 situs inversus 10.3
28 hepatic tuberculosis 10.3 ALB GPT
29 burns 10.3 ALB HGF
30 kwashiorkor 10.3 ALB GPT
31 kidney hypertrophy 10.3 ALB TGFB1
32 hepatic coma 10.3 ALB GPT
33 esophageal varix 10.3
34 alagille syndrome 1 10.3
35 mid-dermal elastolysis 10.3 MMP7 TIMP1
36 hepatocellular carcinoma 10.2
37 varicose veins 10.2
38 cytomegalovirus infection 10.2
39 obstructive nephropathy 10.2 ALB HGF TGFB1
40 thrombosis 10.2
41 hepatopulmonary syndrome 10.2
42 vitreoretinopathy, neovascular inflammatory 10.2 HGF TGFB1 TIMP1
43 hydronephrosis 10.2 ALB TGFB1 TIMP1
44 cystic fibrosis 10.2
45 alpha-1-antitrypsin deficiency 10.2
46 vitamin k deficiency bleeding 10.2
47 portal vein thrombosis 10.2
48 neonatal jaundice 10.2
49 degos 'en cocarde' erythrokeratoderma 10.2
50 cholelithiasis 10.2 ALB GPT NR1H4

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

GenomeRNAi Phenotypes related to Biliary Atresia according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.1 ALB KRT7 MMP7 NR1H4 TGFB1 TIMP1

MGI Mouse Phenotypes related to Biliary Atresia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.09 ADD3 HGF JAG1 MMP7 NR1H4 SPP1
2 growth/size/body region MP:0005378 10.07 ATP8B1 HGF JAG1 MMP7 NR1H4 SLC10A2
3 homeostasis/metabolism MP:0005376 10 ALB ATP8B1 JAG1 KRT7 MMP7 NR1H4
4 hematopoietic system MP:0005397 9.97 ADD3 HGF JAG1 MMP7 NR1H4 SPP1
5 digestive/alimentary MP:0005381 9.95 ALB JAG1 MMP7 NR1H4 SLC10A2 TGFB1
6 liver/biliary system MP:0005370 9.81 ALB ATP8B1 HGF JAG1 NR1H4 SLC10A2
7 neoplasm MP:0002006 9.5 ALB MMP7 NR1H4 SPP1 TGFB1 TIMP1
8 renal/urinary system MP:0005367 9.1 ALB JAG1 KRT7 SPP1 TGFB1 XPNPEP1

Drugs & Therapeutics for Biliary Atresia

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

(show top 50) (show all 86)
# 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,Not Applicable
3 Liver Extracts Phase 4,Phase 2,Not Applicable
4 Peripheral Nervous System Agents Phase 4,Not Applicable
5 Cyclooxygenase Inhibitors Phase 4
6 Anti-Inflammatory Agents, Non-Steroidal Phase 4
7 Cyclooxygenase 2 Inhibitors Phase 4
8 Analgesics Phase 4,Not Applicable
9 Antirheumatic Agents Phase 4
10 Analgesics, Non-Narcotic Phase 4
11
Methylprednisolone Approved, Vet_approved Phase 3,Not Applicable 83-43-2 6741
12
Methylprednisolone hemisuccinate Approved Phase 3,Not Applicable 2921-57-5
13
Prednisolone phosphate Approved, Vet_approved Phase 3,Not Applicable 302-25-0
14
Prednisolone Approved, Vet_approved Phase 3,Not Applicable 50-24-8 5755
15
Prednisolone hemisuccinate Experimental Phase 3,Not Applicable 2920-86-7
16 glucocorticoids Phase 3,Not Applicable
17 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Not Applicable
18 Methylprednisolone Acetate Phase 3,Not Applicable
19 Antineoplastic Agents, Hormonal Phase 3,Not Applicable
20 Hormone Antagonists Phase 3,Not Applicable
21 Hormones Phase 3,Not Applicable
22 Prednisolone acetate Phase 3,Not Applicable
23
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
24
Pentoxifylline Approved, Investigational Phase 2 6493-05-6 4740
25 Immunoglobulins Phase 1, Phase 2
26 Rho(D) Immune Globulin Phase 1, Phase 2
27 gamma-Globulins Phase 1, Phase 2
28 Immunoglobulins, Intravenous Phase 1, Phase 2
29 Immunologic Factors Phase 1, Phase 2,Early Phase 1
30 Antibodies Phase 1, Phase 2
31 Protective Agents Phase 2,Not Applicable
32
Bilirubin Phase 2,Not Applicable 635-65-4, 69853-43-6 5280352 21252250
33 Anti-Infective Agents Phase 2,Phase 1,Not Applicable
34 Platelet Aggregation Inhibitors Phase 2,Not Applicable
35 Respiratory System Agents Phase 2
36 Pharmaceutical Solutions Phase 2,Not Applicable
37 Free Radical Scavengers Phase 2
38 cysteine Phase 2
39 Expectorants Phase 2
40 N-monoacetylcystine Phase 2
41 Bile Acids and Salts Phase 2
42 Antiviral Agents Phase 2
43 Antidotes Phase 2
44 Antioxidants Phase 2
45 Vasodilator Agents Phase 2
46 Phosphodiesterase Inhibitors Phase 2
47 Radiation-Protective Agents Phase 2
48
Vancomycin Approved Phase 1 1404-90-6 441141 14969
49 Anti-Bacterial Agents Phase 1,Not Applicable
50
Sevoflurane Approved, Vet_approved ,Not Applicable 28523-86-6 5206

Interventional clinical trials:

(show all 36)
# 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 N-Acetylcysteine in Biliary Atresia After Kasai Portoenterostomy Recruiting NCT03499249 Phase 2 N-Acetyl cysteine
5 Pentoxifylline Therapy in Biliary Atresia Recruiting NCT01774487 Phase 2 Pentoxifylline
6 Autologous Bone Marrow Mononuclear Stem Cell for Children Suffering From Liver Cirrhosis Due to Biliary Atresia Recruiting NCT03468699 Phase 2
7 Gastrointestinal Microbiota in Primary Sclerosing Cholangitis and Biliary Atresia With Vancomycin Completed NCT01322386 Phase 1 Vancomycin
8 Treating Primary Sclerosing Cholangitis and Biliary Atresia With Vancomycin Recruiting NCT02137668 Phase 1 Oral Vancomycin
9 Trail to Investigate the Effectiveness of CoSeal in Reducing Adhesions Following the Kasai Hepatoportoenterostomy for Biliary Atresia Unknown status NCT01745991
10 Evaluation of Immune Function in Biliary Atresia Children With Prolonged Jaundice Unknown status NCT00155194
11 Clinical and Basic Study for Pediatric Liver Transplantation Unknown status NCT02503384
12 Survival With Own Liver of Conventional Versus Laparoscopic Kasai for Biliary Atresia Completed NCT01063699 Not Applicable
13 Biliary Atresia, Hepatic Buffer Response and Sevoflurane Completed NCT02471209 Sevoflurane
14 Maternal Microchimerism in Lymph Nodes of Infants With Biliary Atresia at Time of Kasai's Operation Completed NCT02292862
15 Use of Probiotics to Prevent Cholangitis in Children With Biliary Atresia After the Kasai Portoenterostomy Completed NCT00166868 Not Applicable Lactobacillus casei rhamnosus (Lcr35);Neomycin
16 A Randomized, Double-Blinded, Placebo-Controlled Trial of Corticosteroid Therapy Following Portoenterostomy Completed NCT00294684 Not Applicable Corticosteroids;Placebo
17 The Comparison of Desflurane and Sevoflurane on Postoperative Recovery and Hepatic Function of Biliary Atresia Patients During Kasai Operation Completed NCT01443572 Not Applicable desflurane anesthetics;sevoflurane anesthetics
18 the Correlation Between Non-invasive Indicators in Patients With Biliary Atresia Completed NCT02848573
19 Study of Magnesium Sulfate in Children With Reduced Bone Density Secondary to Chronic Cholestatic Liver Disease Completed NCT00007033 Not Applicable magnesium gluconate;magnesium sulfate
20 Polygen Defi-Alpha: Genetic Polymorphisms Study in Children With Alpha-1 Antitrypsin Deficiency, Included in the DEFI-ALPHA Cohort Completed NCT01862211 Not Applicable
21 HEMOCC Study. Hemostasis in Cirrhotic Children. Completed NCT03244332 Not Applicable
22 Shear Wave Sonoelastography in Pediatric Liver Fibrosis Completed NCT02372682
23 Development and Validation of a Screening Score for the Biliary Atresia in Infantile Cholestasis: A Prospective Study Recruiting NCT03842150
24 Ultrasound Shear Wave Elastography Evaluation of Suspected and Known Biliary Atresia Recruiting NCT02652533
25 Biliary Atresia Study in Infants and Children Recruiting NCT00345553
26 Mapping Disease Pathways for Biliary Atresia Recruiting NCT03273049
27 A Prospective Database of Infants With Cholestasis Recruiting NCT00061828
28 Effects of Intraoperative Normal Saline vs Lactated Ringer on Outcomes in Pediatric Liver Transplantation Recruiting NCT03563378 Not Applicable Lactated Ringer;Normal saline
29 Hepatitis B Virus Infection After Liver Transplantation in Children Recruiting NCT03865966
30 Increased Liver Stiffness: A Study of Acoustic Radiation Force Impulse (ARFI) Elastography Recruiting NCT03382119 Not Applicable
31 Evaluating the Genetic Causes and Progression of Cholestatic Liver Diseases (LOGIC) Recruiting NCT00571272
32 GCSF Adjunct Therapy for Biliary Atresia Enrolling by invitation NCT03395028 Early Phase 1 Granulocyte Colony-Stimulating Factor
33 Dry Blood Spot Screening Test for Neonatal Cholestasis Patients Enrolling by invitation NCT03667534
34 FibroScan™ in Pediatric Cholestatic Liver Disease (FORCE) Enrolling by invitation NCT02922751
35 Intestinal Microbiome Composition in Infants With Biliary Atresia (BA) Not yet recruiting NCT03890536
36 Dry Blood Spot Screening Test for Biliary Atresia(DBS-SCReBA) Not yet recruiting NCT03898765 Not Applicable

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 30

Anatomical Context for Biliary Atresia

MalaCards organs/tissues related to Biliary Atresia:

42
Liver, Testes, Bone, T Cells, Lymph Node, Heart, Bone Marrow

Publications for Biliary Atresia

Articles related to Biliary Atresia:

(show top 50) (show all 2349)
# Title Authors Year
1
What Happens after Kasai for Biliary Atresia? A European Multicenter Survey. ( 30130826 )
2019
2
Biliary Atresia Relevant Human Induced Pluripotent Stem Cells Recapitulate Key Disease Features in a Dish. ( 30358741 )
2019
3
Advanced assessment of serum Mac-2 binding protein glycosylation isomer in patients with biliary atresia. ( 30413873 )
2019
4
A quantitative image analysis using MRI for diagnosis of biliary atresia. ( 30415184 )
2019
5
Multicenter, retrospective, comparative study of laparoscopic and open Kasai portoenterostomy in children with biliary atresia from Japanese high-volume centers. ( 30488647 )
2019
6
Modifications to Expose Porta Hepatis for Laparoscopic Portoenterostomy Easier in Biliary Atresia. ( 30502273 )
2019
7
Genetics in biliary atresia. ( 30585837 )
2019
8
Acute-on-chronic liver failure in children with biliary atresia awaiting liver transplantation. ( 30597734 )
2019
9
A periodic comparison of the survival and prognostic factors of biliary atresia after Kasai portoenterostomy: a single-center study in Korea. ( 30607544 )
2019
10
Biliary Atresia Associated Cholangitis - The Central Role and Effective Management of Bile Lakes. ( 30628982 )
2019
11
Efficacy and safety of Yinchen Sini decoction in treating biliary atresia patients after Kasai portoenterostomy: A systematic review and meta-analysis protocol. ( 30633169 )
2019
12
Identification of PKD1L1 Gene Variants in Children with the Biliary Atresia Splenic Malformation Syndrome. ( 30664273 )
2019
13
A Phase I/IIa Trial of Intravenous Immunoglobulin Following Portoenterostomy in Biliary Atresia. ( 30664564 )
2019
14
Pediatric living donor liver transplant in a recipient with biliary atresia and portal vein duplication-How did we manage it? ( 30676683 )
2019
15
Ultrasound Evaluation of Biliary Atresia Based on Gallbladder Classification: Is 4 Hours of Fasting Necessary? ( 30680769 )
2019
16
Th17-associated cytokines multiplex testing indicates the potential of macrophage inflammatory protein-3 alpha in the diagnosis of biliary atresia. ( 30684914 )
2019
17
Divergent expression of liver transforming growth factor superfamily cytokines after successful portoenterostomy in biliary atresia. ( 30686515 )
2019
18
PROMININ-1 promotes biliary fibrosis associated with biliary atresia. ( 30723921 )
2019
19
Design and validation of a noninvasive diagnostic criteria for biliary atresia in infants based on the STROBE compliant. ( 30732123 )
2019
20
An improved and easy protocol for primary epithelial cell culture from atretic tissue in biliary atresia. ( 30736909 )
2019
21
Biliary atresia with an unusual abdominal orientation: A case report. ( 30738370 )
2019
22
Editorial: Treating Biliary Atresia: The Challenge Continues. ( 30747816 )
2019
23
Morphometric demonstration of portal vein stenosis and hepatic arterial medial hypertrophy in patients with biliary atresia. ( 30762106 )
2019
24
Is "gallbladder length-to-width ratio" useful in diagnosing biliary atresia? ( 30765154 )
2019
25
Adjuvant therapy of cytomegalovirus IgM + ve associated biliary atresia: Prima facie evidence of effect. ( 30772005 )
2019
26
Learning Curve Analysis of Open Kasai Portoenterostomy for Biliary Atresia. ( 30798170 )
2019
27
A retrospective study of the ideal operation time for preterm biliary atresia patients. ( 30805663 )
2019
28
Correlation between hepatic oxidative damage and clinical severity and mitochondrial gene sequencing results in biliary atresia. ( 30811072 )
2019
29
Histological significance of hepatitis-like findings in biliary atresia. ( 30811786 )
2019
30
Central line-associated bloodstream infection among children with biliary atresia listed for liver transplantation. ( 30820270 )
2019
31
Recent advances in understanding biliary atresia. ( 30828434 )
2019
32
A case report of a challenging diagnosis of biliary atresia in a patient receiving total parenteral nutrition. ( 30849955 )
2019
33
Quantification of Serum Matrix Metallopeptide 7 Levels May Assist in the Diagnosis and Predict the Outcome for Patients with Biliary Atresia. ( 30853207 )
2019
34
MMP-7: The Next Best Serum Biomarker for Biliary Atresia? ( 30857775 )
2019
35
Noninvasive Evaluation of Liver Fibrosis and Portal Hypertension After Successful Portoenterostomy for Biliary Atresia. ( 30859150 )
2019
36
Universal screening of newborns for biliary atresia: Cost-effectiveness of alternative strategies. ( 30871409 )
2019
37
Oligoclonal immunoglobulin repertoire in biliary remnants of biliary atresia. ( 30872727 )
2019
38
Prognostic markers at adolescence in patients Biliary Atresia for liver transplantation in adulthood. ( 30876944 )
2019
39
Predictors of Need for Liver Transplantation in Children Undergoing Hepatoportoenterostomy for Biliary Atresia. ( 30879751 )
2019
40
Treating Biliary Atresia: The Challenge Continues. ( 30896606 )
2019
41
Suppressing microRNA-29c promotes biliary atresia-related fibrosis by targeting DNMT3A and DNMT3B. ( 30906331 )
2019
42
Increased serum glypican-3 is associated with liver stiffness and hepatic dysfunction in children with biliary atresia. ( 30915406 )
2019
43
Increased expression of senescence-associated cell cycle regulators in the progression of biliary atresia: an immunohistochemical study. ( 29392752 )
2018
44
Cystic biliary atresia: A distinct clinical entity that may mimic choledochal cyst. ( 29904486 )
2018
45
Correlation of APRI Index with Metavir Index in Children with Neonatal Cholestasis Without Biliary Atresia. ( 29893700 )
2018
46
Liver transplantation for deterioration in native liver function after portoenterostomy for biliary atresia in Japan: Short- versus long-term survivors. ( 29229480 )
2018
47
Biliary tract: MMP7 - a diagnostic biomarker for biliary atresia. ( 29235550 )
2018
48
Analysis of risk factors for morbidity in children undergoing the Kasai procedure for biliary atresia. ( 29915925 )
2018
49
Transcription Factor GATA6: A Novel Marker and Putative Inducer of Ductal Metaplasia in Biliary Atresia. ( 29388792 )
2018
50
Glucocorticosteroids for infants with biliary atresia following Kasai portoenterostomy. ( 29761473 )
2018

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 space GO:0005615 9.7 ALB GPT HGF MMP7 SPP1 TGFB1
2 extracellular region GO:0005576 9.56 ALB CFC1 HGF JAG1 MMP7 SPP1
3 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 regulation of signaling receptor activity GO:0010469 9.65 HGF JAG1 SPP1 TGFB1 TIMP1
2 Notch signaling pathway GO:0007219 9.63 JAG1 NR1H4 TGFB1
3 response to organic substance GO:0010033 9.58 SPP1 TGFB1 TIMP1
4 response to vitamin D GO:0033280 9.48 SPP1 TGFB1
5 negative regulation of cell-cell adhesion GO:0022408 9.43 JAG1 TGFB1
6 bile acid metabolic process GO:0008206 9.37 ATP8B1 NR1H4
7 cell activation GO:0001775 9.32 TGFB1 TIMP1
8 platelet degranulation GO:0002576 9.26 ALB HGF TGFB1 TIMP1
9 connective tissue replacement involved in inflammatory response wound healing GO:0002248 9.16 TGFB1 TIMP1
10 bile acid and bile salt transport GO:0015721 8.92 ATP8B1 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 9.26 HGF JAG1 TGFB1 TIMP1
2 bile acid:sodium symporter activity GO:0008508 8.62 SLC10A1 SLC10A2

Sources for Biliary Atresia

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75 UMLS via Orphanet
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