MCID: BLR001
MIFTS: 51

Biliary Atresia malady

Rare diseases, Liver diseases, Fetal diseases categories

Aliases & Classifications for Biliary Atresia

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Sources:
9Disease Ontology, 41NIH Rare Diseases, 11DISEASES, 43Novoseek, 47Orphanet, 60UMLS, 55SNOMED-CT, 38NCIt, 33MeSH, 27ICD9CM, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Biliary Atresia, Aliases & Descriptions:

Name: Biliary Atresia 9 41 11 43 47 60
Non-Syndromic Biliary Atresia 47
Biliary Atresia, Congenital 9
 
Congenital Biliary Atresia 9
Atresia of Bile Ducts 47
Atresia of Bile Duct 9


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Fetal diseases
Anatomical: Liver diseases


Characteristics (Orphanet epidemiological data):

47
biliary atresia:
Inheritance: Multigenic/multifactorial; Prevalence: 1-9/100000 (Europe),1-9/100000 (Belgium),1-9/100000 (France),1-5/10000 (Germany),1-9/100000 (Italy),1-5/10000 (Netherlands),1-9/100000 (Norway),1-9/100000 (Spain),1-5/10000 (Switzerland),1-9/100000 (United Kingdom),1-5/10000 (Ukraine),1-5/10000 (Worldwide),1-9/100000 (Japan); Age of onset: Infancy,Neonatal


External Ids:

Disease Ontology9 DOID:13608
NCIt38 C34421
MeSH33 D001656
ICD9CM27 751.61
Orphanet47 30391
MESH via Orphanet34 D001656
ICD10 via Orphanet26 Q44.2
UMLS via Orphanet61 C0005411

Summaries for Biliary Atresia

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Wikipedia:63 Biliary atresia, also known as \"extrahepatic ductopenia\" and \"progressive obliterative... more...

MalaCards based summary: Biliary Atresia, also known as non-syndromic biliary atresia, is related to hepatitis and intrahepatic cholestasis. An important gene associated with Biliary Atresia is GPC1 (glypican 1), and among its related pathways are Synthesis of bile acids and bile salts and Syndecan-1-mediated signaling events. The compounds glycochenodeoxycholic acid and Allocholic acid have been mentioned in the context of this disorder. Affiliated tissues include liver, small intestine and bone, and related mouse phenotypes are liver/biliary system and digestive/alimentary.

Disease Ontology:9 A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder.

Related Diseases for Biliary Atresia

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

(show top 50)    (show all 118)
idRelated DiseaseScoreTop Affiliating Genes
1hepatitis31.0HGF, CXCL10, GPT
2intrahepatic cholestasis30.8SLC10A2, JAG1
3cholestasis30.8GPT, JAG1, SLC10A2, SLC10A1
4congenital heart disease30.7JAG1
5galactosemia30.1GPT, JAG1, HGF
6hepatoblastoma30.0SLC10A1, HGF
7hepatitis c30.0MX1, CXCL10, GPT
8hepatitis b29.9MX1, CXCL10, GPT
9hepatocellular carcinoma29.8GPT, MMP7, JAG1, HGF, CTGF
10liver cirrhosis29.4CTGF, HGF, CXCL10, GPT
11choledochal cyst10.7
12cholangitis10.6
13ascending cholangitis10.5
14esophagitis10.5
15biliary atresia extrahepatic10.5
16portal hypertension10.5
17situs inversus10.4
18ichthyosis congenita biliary atresia10.4
19duodenitis10.3
20neonatal jaundice10.3
21cholestasis, progressive familial intrahepatic 110.3SLC10A2, JAG1
22alagille syndrome10.3
23liver disease10.3
24portal vein thrombosis10.3
25biliary atresia intrahepatic non syndromic form10.3
26biliary atresia intrahepatic syndromic form10.3
27lambert syndrome10.3
28cytomegalovirus infection10.3
29biliary atresia with splenic malformation syndrome10.3
30cystic fibrosis10.2
31cholangiocarcinoma10.2
32glycogen storage disease10.2
33hepatopulmonary syndrome10.2
34hyperandrogenism10.2
35intussusception10.2
36hypersplenism10.2
37brachydactyly10.2
38amenorrhea10.2
39patent ductus arteriosus10.2
40pancreatitis10.2
41duodenal atresia10.2
42jejunal atresia10.2
43cholangitis, primary sclerosing10.2GPT, JAG1
44fumarase deficiency10.0
45hepatitis c virus10.0
46zimmermann-laband syndrome10.0
47mitchell-riley syndrome10.0
48hyperbiliverdinemia10.0
49ataxia-telangiectasia10.0
50meconium ileus10.0

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



Diseases related to biliary atresia

Symptoms for Biliary Atresia

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Drugs & Therapeutics for Biliary Atresia

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Drug clinical trials:

Search ClinicalTrials for Biliary Atresia

Search NIH Clinical Center for Biliary Atresia

Genetic Tests for Biliary Atresia

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Anatomical Context for Biliary Atresia

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MalaCards organs/tissues related to Biliary Atresia:

31
Liver, Small intestine, Bone, T cells, Testes, Heart, Pancreas, Nk cells, Neutrophil, Spleen, Kidney, Thyroid, Skin, Myeloid, B cells, Endothelial

Animal Models for Biliary Atresia or affiliated genes

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MGI Mouse Phenotypes related to Biliary Atresia:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.9SLC10A2, HGF, JAG1, CFC1
2MP:00053818.5CFC1, MMP7, JAG1, CTGF, SLC10A2
3MP:00053787.9CFC1, MMP7, JAG1, HGF, CTGF, SLC10A2
4MP:00053857.9CTGF, HGF, CXCL10, JAG1, MMP7, CFC1
5MP:00053767.6GPC1, MMP7, JAG1, CXCL10, CTGF, SLC10A2

Publications for Biliary Atresia

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Articles related to Biliary Atresia:

(show top 50)    (show all 663)
idTitleAuthorsYear
1
Stool color card screening for early detection of biliary atresia and long-term native liver survival: a 19-year cohort study in Japan. (25681196)
2015
2
Living Related Liver Transplantation for Biliary Atresia in the Last 5A years: Experience from the First Liver Transplant Program in India. (25708058)
2015
3
Sonic hedgehog (SHH) and glioblastoma-2 (Gli-2) expressions are associated with poor jaundice-free survival in biliary atresia. (25746691)
2015
4
A diagnostic score for biliary atresia. (25195553)
2014
5
Identification of HSP90 as potential biomarker of biliary atresia using two-dimensional electrophoresis and mass spectrometry. (23874684)
2013
6
Perforin and granzymes work in synergy to mediate cholangiocyte injury in experimental biliary atresia. (24096050)
2013
7
Cystic fibrosis presenting with neonatal cholestasis simulating biliary atresia in a patient with a novel mutation. (22798282)
2013
8
Current options for management of biliary atresia. (23347466)
2013
9
Scottish outcomes for extra hepatic biliary atresia post-rationalisation of services. (23429893)
2013
10
Late-onset invasive group B Streptococcal infection with serotype VIII in a neonate having congenital biliary atresia. (23445746)
2013
11
Biliary atresia: a multidisciplinary approach to diagnosis and management. (22742548)
2012
12
Reappraising the portoenterostomy procedure according to sound physiologic/anatomic principles enhances postoperative jaundice clearance in biliary atresia. (22033773)
2012
13
Left hepatic lobectomy in a long-term biliary atresia survivor. (22878768)
2012
14
Hepatocellular telomere length in biliary atresia measured by Q-FISH. (22311140)
2012
15
Utility of Tc99m-Mebrofenin hepato-biliary scintigraphy (HIDA scan) for the diagnosis of biliary atresia. (22803298)
2012
16
Prenatal non-visualization of fetal gallbladder: beware of biliary atresia! (21611993)
2011
17
Morphometrical and immunohistochemical study of intrahepatic bile ducts in biliary atresia. (21694599)
2011
18
Biliary atresia in England and Wales: results of centralization and new benchmark. (21929975)
2011
19
Osteopontin upregulation in rotavirus-induced murine biliary atresia requires replicating virus but is not necessary for development of biliary atresia. (21742364)
2011
20
MDCT, MR and interventional radiology in biliary atresia candidates for liver transplantation. (22007284)
2011
21
RRAS: A key regulator and an important prognostic biomarker in biliary atresia. (21390152)
2011
22
Graft fibrosis in patients with biliary atresia after pediatric living-related liver transplantation. (21771230)
2011
23
A case of cystic biliary atresia with an antenatally detected cyst: the possibility of changing from a correctable type with a cystic lesion (I cyst) to an uncorrectable one (IIId). (20845042)
2011
24
Hedgehog activity, epithelial-mesenchymal transitions, and biliary dysmorphogenesis in biliary atresia. (21480329)
2011
25
Portal vein thrombosis in biliary atresia patients after living donor liver transplantation. (20570300)
2011
26
Neutrophils in biliary atresia. A study on their morphologic distribution and expression of CAP37. (20399025)
2010
27
Endotoxin and CD14 in the progression of biliary atresia. (21172039)
2010
28
Assessment of liver fibrosis and cirrhosis by aspartate aminotransferase-to-platelet ratio index in children with biliary atresia. (20531020)
2010
29
Selective rather than routine approach to endosopic retrograde cholangio-pancreatography in diagnosis of biliary atresia. (20347498)
2010
30
Pathologic diagnosis of biliary atresia on liver biopsy: is tissue the issue? (19638075)
2009
31
Intellectual and visuo-spatial assessment in long-term pediatric liver transplantation for biliary atresia. (19424048)
2009
32
Long-term outcome of children with biliary atresia who were not transplanted after the Kasai operation: >20-year experience at a children's hospital. (19330933)
2009
33
Value of the liver function test in differential diagnosis of infantile hepatitis syndrome and biliary atresia]. (20113595)
2009
34
Outcome of biliary atresia in Malaysia: a single-centre study. (19493120)
2009
35
Circulating leptin levels and bone mineral density in children with biliary atresia. (18177445)
2008
36
Swiss outcomes in biliary atresia: are there lessons to be learned? (18376239)
2008
37
Diagnosis and interventional radiological treatment of vascular and biliary complications after liver transplantation in children with biliary atresia. (18929792)
2008
38
Current concept about postoperative cholangitis in biliary atresia. (18402246)
2008
39
Advances in the understanding and treatment of biliary atresia. (18475102)
2008
40
Prolonged neonatal jaundice and the diagnosis of biliary atresia: a single-center analysis of trends in age at diagnosis and outcomes. (18443020)
2008
41
Review of historical cohort: ursodeoxycholic acid in extrahepatic biliary atresia. (18639689)
2008
42
Postoperative high-dose steroids do not improve mid-term survival with native liver in biliary atresia. (18177447)
2008
43
Promoter polymorphism of the CD14 endotoxin receptor gene is associated with biliary atresia and idiopathic neonatal cholestasis. (16061600)
2005
44
Biliary atresia associated with jejunal atresia and a review of the literature in Japan. (15851374)
2005
45
Hepatoblastoma in a girl with biliary atresia: coincidence or co-incidence. (15382280)
2004
46
In situ CD14 expression in biliary atresia: comparison between early and late stages. (11150474)
2001
47
The ultrasonographic 'triangular cord' coupled with gallbladder images in the diagnostic prediction of biliary atresia from infantile intrahepatic cholestasis. (10591576)
1999
48
Soluble ICAM-1 (sICAM-1) in biliary atresia and its relationship to disease activity. (9695739)
1998
49
Comparison technetium of Tc-99m disofenin cholescintigraphy with ultrasonography in the differentiation of biliary atresia from other forms of neonatal jaundice. (9035206)
1997
50
Postoperative ascending cholangitis following portoenterostomy for biliary atresia: Measures and control. Invited commentary. (741784)
1978

Variations for Biliary Atresia

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Expression for genes affiliated with Biliary Atresia

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Search GEO for disease gene expression data for Biliary Atresia.

Pathways for genes affiliated with Biliary Atresia

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Compounds for genes affiliated with Biliary Atresia

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Compounds related to Biliary Atresia according to GeneCards Suite gene sharing:

(show top 50)    (show all 123)
idCompoundScoreTop Affiliating Genes
1glycochenodeoxycholic acid43 1211.1SLC10A1, SLC10A2
2Allocholic acid2410.1SLC10A1, SLC10A2
3Allodeoxycholic acid2410.1SLC10A1, SLC10A2
4Allolithocholic acid2410.1SLC10A1, SLC10A2
5Alpha-Muricholic acid2410.1SLC10A1, SLC10A2
6Allochenodeoxycholic acid2410.1SLC10A2, SLC10A1
73b-Hydroxy-5-cholenoic acid2410.1SLC10A2, SLC10A1
83b,7b,12a-Trihydroxy-5b-cholanoic acid2410.1SLC10A2, SLC10A1
93b,7b,12a-Trihydroxy-5a-Cholanoic acid2410.1SLC10A2, SLC10A1
103b,7a-Dihydroxy-5b-cholanoic acid2410.1SLC10A2, SLC10A1
11Bisnorcholic acid2410.0SLC10A1, SLC10A2
12Nutriacholic acid2410.0SLC10A1, SLC10A2
13Murocholic acid2410.0SLC10A2, SLC10A1
14Muricholic acid2410.0SLC10A2, SLC10A1
15Isoursodeoxycholic acid2410.0SLC10A2, SLC10A1
16Isolithocholic acid2410.0SLC10A2, SLC10A1
17Isohyodeoxycholic acid2410.0SLC10A2, SLC10A1
18Isodeoxycholic acid2410.0SLC10A2, SLC10A1
19Chenodeoxycholic acid 3-sulfate2410.0SLC10A2, SLC10A1
202b,3a,7a-Trihydroxy-5b-cholanoic acid2410.0SLC10A2, SLC10A1
212b,3a,7a,12a-Tetrahydroxy-5b-cholanoic acid2410.0SLC10A2, SLC10A1
221b-Hydroxycholic acid2410.0SLC10A2, SLC10A1
231b,3a,7a-Trihydroxy-5b-cholanoic acid2410.0SLC10A2, SLC10A1
241b,3a,12a-Trihydroxy-5b-cholanoic acid249.9SLC10A2, SLC10A1
2512b-Hydroxy-5b-cholanoic acid249.9SLC10A2, SLC10A1
2612a-Hydroxy-3-oxocholadienic acid249.9SLC10A2, SLC10A1
2712-Ketodeoxycholic acid249.9SLC10A2, SLC10A1
283a,6a,7b-Trihydroxy-5b-cholanoic acid249.9SLC10A1, SLC10A2
293a,6b,7a,12a-Tetrahydroxy-5b-cholanoic acid249.9SLC10A1, SLC10A2
303b,7a,12a-Trihydroxy-5b-cholanoic acid249.8SLC10A2, SLC10A1
313b,7a,12a-Trihydroxy-5a-Cholanoic acid249.8SLC10A2, SLC10A1
323a,7a,12b-Trihydroxy-5b-cholanoic acid249.7SLC10A2, SLC10A1
333a,7a,12a,19-Tetrahydroxy-5b-cholanoic acid249.7SLC10A2, SLC10A1
343a,6b,7b,12a-Tetrahydroxy-5b-cholanoic acid249.7SLC10A2, SLC10A1
353a,6b,7b-Trihydroxy-5b-cholanoic acid249.6SLC10A2, SLC10A1
36hepaplastin439.6HGF, GPT
37d-galactosamine439.6HGF, GPT
383a,6b,7b,12b-Tetrahydroxy-5b-cholanoic acid249.4SLC10A2, SLC10A1
39chenodeoxycholic acid43 28 24 1212.3SLC10A1, SLC10A2, GPT
40pioglitazone28 43 49 1212.2GPT, CTGF, MMP7
41pravastatin43 49 28 24 1213.1CTGF, GPT, SLC10A2
422,5-oligoadenylate439.1GPT, CXCL10, MX1
43ribavirin43 49 1211.1GPT, MX1, CXCL10
44ifn-alpha439.1MX1, CXCL10, GPT
45neopterin439.1GPT, CXCL10, MX1
46ccl443 289.9HGF, CXCL10, GPT
47ursodeoxycholic acid43 24 1210.8GPT, HGF, SLC10A2, SLC10A1
48cyclosporin a43 28 5910.7SLC10A1, CTGF, HGF, GPT
49retinoic acid43 249.4CTGF, HGF, CXCL10, MMP7, SLC10A2
50lipid437.6GPT, CXCL10, HGF, MX1, CTGF, SLC10A2

GO Terms for genes affiliated with Biliary Atresia

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

idNameGO IDScoreTop Affiliating Genes
1proteinaceous extracellular matrixGO:00055789.2GPC1, MMP7, CTGF
2integral component of plasma membraneGO:00058879.1SLC10A1, SLC10A2, JAG1, GPC1
3extracellular spaceGO:00056158.2GPC1, MMP7, CXCL10, HGF, CTGF
4plasma membraneGO:00058867.9CFC1, GPC1, JAG1, CTGF, SLC10A2, SLC10A1
5extracellular regionGO:00055767.9CTGF, HGF, CXCL10, JAG1, MMP7, CFC1

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

idNameGO IDScoreTop Affiliating Genes
1bile acid metabolic processGO:00082069.7SLC10A1, SLC10A2
2bile acid and bile salt transportGO:00157219.6SLC10A1, SLC10A2
3regulation of cell proliferationGO:00421279.2CXCL10, JAG1, MMP7
4small molecule metabolic processGO:00442817.7GPT, GPC1, CTGF, SLC10A2, SLC10A1

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

idNameGO IDScoreTop Affiliating Genes
1bile acid:sodium symporter activityGO:00085089.4SLC10A1, SLC10A2
2growth factor activityGO:00080839.1CTGF, HGF, JAG1

Products for genes affiliated with Biliary Atresia

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Sources for Biliary Atresia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet