MCID: BLR001
MIFTS: 63

Biliary Atresia malady

Rare diseases, Gastrointestinal diseases, Liver diseases, Fetal diseases categories
Download this MalaCard

Summaries for Biliary Atresia

About this section


Fully expand this MalaCard
Wikipedia:65 Biliary atresia, also known as \"extrahepatic ductopenia\" and \"progressive obliterative... more...

MalaCards based summary: Biliary Atresia, also known as congenital biliary atresia, is related to hepatitis and intrahepatic cholestasis, and has symptoms including 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 7a-Hydroxy-5b-cholanic 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:8 A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder.

Description from OMIM:46 210500

Aliases & Classifications for Biliary Atresia

About this section
Sources:
8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 48Orphanet, 46OMIM, 62UMLS, 57SNOMED-CT, 39NCIt, 34MeSH, 27ICD9CM, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet, 25ICD10
See all sources

Biliary Atresia, Aliases & Descriptions:

Name: Biliary Atresia 8 42 10 44 48 46 62
Congenital Biliary Atresia 8 62
Atresia of Bile Ducts 48 62
 
Atresia of Bile Duct 8 62
Non-Syndromic Biliary Atresia 48
Biliary Atresia, Congenital 8


Classifications:



Characteristics (Orphanet epidemiological data):

48
biliary atresia:
Inheritance: Multigenic/multifactorial; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy


External Ids:

Disease Ontology8 DOID:13608
NCIt39 C34421
MeSH34 D001656
ICD9CM27 751.61
OMIM46 210500
MESH via Orphanet35 D001656
ICD10 via Orphanet26 Q44.2
UMLS via Orphanet63 C0005411
ICD1025 Q44.2

Related Diseases for Biliary Atresia

About this section

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

(show top 50)    (show all 118)
idRelated DiseaseScoreTop Affiliating Genes
1hepatitis31.0HGF, CXCL10, GPT
2intrahepatic cholestasis30.9SLC10A2, 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
9liver cirrhosis29.5CTGF, HGF, CXCL10, GPT
10choledochal cyst10.7
11cholangitis10.6
12ascending cholangitis10.5
13esophagitis10.5
14hypertension10.4
15situs inversus10.4
16portal hypertension10.4
17biliary atresia extrahepatic10.4
18ichthyosis congenita biliary atresia10.4
19hepatocellular carcinoma10.3
20duodenitis10.3
21neonatal jaundice10.3
22cholestasis, progressive familial intrahepatic 110.3SLC10A2, JAG1
23alagille syndrome10.3
24liver disease10.3
25portal vein thrombosis10.3
26cytomegalovirus infection10.3
27cholangiocarcinoma10.2
28cystic fibrosis10.2
29glycogen storage disease10.2
30hepatopulmonary syndrome10.2
31hypersplenism10.2
32amenorrhea10.2
33patent ductus arteriosus10.2
34hyperandrogenism10.2
35brachydactyly10.2
36intussusception10.2
37pancreatitis10.2
38biliary atresia intrahepatic non syndromic form10.2
39biliary atresia intrahepatic syndromic form10.2
40duodenal atresia10.2
41jejunal atresia10.2
42lambert syndrome10.2
43biliary atresia with splenic malformation syndrome10.2
44primary sclerosing cholangitis10.2GPT, JAG1
45ataxia telangiectasia10.0
46autoimmune hepatitis10.0
47bone fracture10.0
48hypoplastic left heart syndrome10.0
49niemann-pick disease10.0
50thrombocytopenia10.0

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



Diseases related to biliary atresia

Symptoms for Biliary Atresia

About this section

Symptoms by clinical synopsis from OMIM:

210500

Clinical features from OMIM:

210500

HPO human phenotypes related to Biliary Atresia:

(show all 13)
id Description Frequency HPO Source Accession
1 jaundice HP:0000952
2 cirrhosis HP:0001394
3 bile duct proliferation HP:0001408
4 hepatomegaly HP:0002240
5 elevated hepatic transaminases HP:0002910
6 increased total bilirubin HP:0003573
7 infantile onset HP:0003593
8 progressive disorder HP:0003676
9 extrahepatic biliary duct atresia HP:0005242
10 portal fibrosis HP:0006580
11 unconjugated hyperbilirubinemia HP:0008282
12 atretic gallbladder HP:0011984
13 acholic stools HP:0011985

Drugs & Therapeutics for Biliary Atresia

About this section

Drug clinical trials:

Search ClinicalTrials for Biliary Atresia

Search NIH Clinical Center for Biliary Atresia

Genetic Tests for Biliary Atresia

About this section

Anatomical Context for Biliary Atresia

About this section

MalaCards organs/tissues related to Biliary Atresia:

32
Liver, Small intestine, Bone, T cells, Testes, Heart, Pancreas, Nk cells, Neutrophil, Kidney, Thyroid, Skin, Myeloid, Monocytes, B cells, Endothelial

Animal Models for Biliary Atresia or affiliated genes

About this section

MGI Mouse Phenotypes related to Biliary Atresia:

36
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

About this section

Articles related to Biliary Atresia:

(show top 50)    (show all 642)
idTitleAuthorsYear
1
A diagnostic score for biliary atresia. (25195553)
2014
2
Identification of HSP90 as potential biomarker of biliary atresia using two-dimensional electrophoresis and mass spectrometry. (23874684)
2013
3
Perforin and granzymes work in synergy to mediate cholangiocyte injury in experimental biliary atresia. (24096050)
2013
4
Cystic fibrosis presenting with neonatal cholestasis simulating biliary atresia in a patient with a novel mutation. (22798282)
2013
5
Current options for management of biliary atresia. (23347466)
2013
6
Scottish outcomes for extra hepatic biliary atresia post-rationalisation of services. (23429893)
2013
7
Late-onset invasive group B Streptococcal infection with serotype VIII in a neonate having congenital biliary atresia. (23445746)
2013
8
Biliary atresia: a multidisciplinary approach to diagnosis and management. (22742548)
2012
9
Reappraising the portoenterostomy procedure according to sound physiologic/anatomic principles enhances postoperative jaundice clearance in biliary atresia. (22033773)
2012
10
Left hepatic lobectomy in a long-term biliary atresia survivor. (22878768)
2012
11
Hepatocellular telomere length in biliary atresia measured by Q-FISH. (22311140)
2012
12
Utility of Tc99m-Mebrofenin hepato-biliary scintigraphy (HIDA scan) for the diagnosis of biliary atresia. (22803298)
2012
13
Prenatal non-visualization of fetal gallbladder: beware of biliary atresia! (21611993)
2011
14
Morphometrical and immunohistochemical study of intrahepatic bile ducts in biliary atresia. (21694599)
2011
15
Biliary atresia in England and Wales: results of centralization and new benchmark. (21929975)
2011
16
Osteopontin upregulation in rotavirus-induced murine biliary atresia requires replicating virus but is not necessary for development of biliary atresia. (21742364)
2011
17
MDCT, MR and interventional radiology in biliary atresia candidates for liver transplantation. (22007284)
2011
18
RRAS: A key regulator and an important prognostic biomarker in biliary atresia. (21390152)
2011
19
Graft fibrosis in patients with biliary atresia after pediatric living-related liver transplantation. (21771230)
2011
20
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
21
Hedgehog activity, epithelial-mesenchymal transitions, and biliary dysmorphogenesis in biliary atresia. (21480329)
2011
22
Portal vein thrombosis in biliary atresia patients after living donor liver transplantation. (20570300)
2011
23
Neutrophils in biliary atresia. A study on their morphologic distribution and expression of CAP37. (20399025)
2010
24
Endotoxin and CD14 in the progression of biliary atresia. (21172039)
2010
25
Assessment of liver fibrosis and cirrhosis by aspartate aminotransferase-to-platelet ratio index in children with biliary atresia. (20531020)
2010
26
Selective rather than routine approach to endosopic retrograde cholangio-pancreatography in diagnosis of biliary atresia. (20347498)
2010
27
Pathologic diagnosis of biliary atresia on liver biopsy: is tissue the issue? (19638075)
2009
28
Intellectual and visuo-spatial assessment in long-term pediatric liver transplantation for biliary atresia. (19424048)
2009
29
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
30
Value of the liver function test in differential diagnosis of infantile hepatitis syndrome and biliary atresia]. (20113595)
2009
31
Outcome of biliary atresia in Malaysia: a single-centre study. (19493120)
2009
32
Circulating leptin levels and bone mineral density in children with biliary atresia. (18177445)
2008
33
Swiss outcomes in biliary atresia: are there lessons to be learned? (18376239)
2008
34
Diagnosis and interventional radiological treatment of vascular and biliary complications after liver transplantation in children with biliary atresia. (18929792)
2008
35
Current concept about postoperative cholangitis in biliary atresia. (18402246)
2008
36
Advances in the understanding and treatment of biliary atresia. (18475102)
2008
37
Prolonged neonatal jaundice and the diagnosis of biliary atresia: a single-center analysis of trends in age at diagnosis and outcomes. (18443020)
2008
38
Review of historical cohort: ursodeoxycholic acid in extrahepatic biliary atresia. (18639689)
2008
39
Postoperative high-dose steroids do not improve mid-term survival with native liver in biliary atresia. (18177447)
2008
40
Promoter polymorphism of the CD14 endotoxin receptor gene is associated with biliary atresia and idiopathic neonatal cholestasis. (16061600)
2005
41
Biliary atresia associated with jejunal atresia and a review of the literature in Japan. (15851374)
2005
42
Hepatoblastoma in a girl with biliary atresia: coincidence or co-incidence. (15382280)
2004
43
HLA and cytokine gene polymorphisms in biliary atresia. (12100571)
2002
44
In situ CD14 expression in biliary atresia: comparison between early and late stages. (11150474)
2001
45
The ultrasonographic 'triangular cord' coupled with gallbladder images in the diagnostic prediction of biliary atresia from infantile intrahepatic cholestasis. (10591576)
1999
46
Soluble ICAM-1 (sICAM-1) in biliary atresia and its relationship to disease activity. (9695739)
1998
47
Choledochal cyst with or without biliary atresia in neonates and young infants: US differentiation. (9807575)
1998
48
Comparison technetium of Tc-99m disofenin cholescintigraphy with ultrasonography in the differentiation of biliary atresia from other forms of neonatal jaundice. (9035206)
1997
49
Splenic infarction in a child with portal hypertension secondary to biliary atresia. (9126779)
1997
50
Postoperative ascending cholangitis following portoenterostomy for biliary atresia: Measures and control. Invited commentary. (741784)
1978

Variations for Biliary Atresia

About this section

Expression for genes affiliated with Biliary Atresia

About this section
Expression patterns in normal tissues for genes affiliated with Biliary Atresia

Search GEO for disease gene expression data for Biliary Atresia.

Pathways for genes affiliated with Biliary Atresia

About this section

Compounds for genes affiliated with Biliary Atresia

About this section

Compounds related to Biliary Atresia according to GeneCards/GeneDecks:

(show top 50)    (show all 123)
idCompoundScoreTop Affiliating Genes
1glycochenodeoxycholic acid44 1111.1SLC10A1, SLC10A2
27a-Hydroxy-5b-cholanic acid2410.1SLC10A1, SLC10A2
37b,12a-Dihydroxycholanoic acid2410.1SLC10A1, SLC10A2
4Allochenodeoxycholic acid2410.1SLC10A1, SLC10A2
5Allocholic acid2410.1SLC10A1, SLC10A2
67a-Hydroxy-3-oxo-5b-cholanoic acid2410.1SLC10A2, SLC10A1
77a,12b-dihydroxy-5b-Cholan-24-oic acid2410.1SLC10A2, SLC10A1
83b,7a-Dihydroxy-5b-cholanoic acid2410.1SLC10A2, SLC10A1
93b,7a,12a-Trihydroxy-5b-cholanoic acid2410.1SLC10A2, SLC10A1
103b,7a,12a-Trihydroxy-5a-Cholanoic acid2410.1SLC10A2, SLC10A1
11Allodeoxycholic acid2410.0SLC10A1, SLC10A2
12Varanic acid2410.0SLC10A1, SLC10A2
13Isolithocholic acid2410.0SLC10A2, SLC10A1
14Isohyodeoxycholic acid2410.0SLC10A2, SLC10A1
15Isodeoxycholic acid2410.0SLC10A2, SLC10A1
16Isoallolithocholic acid2410.0SLC10A2, SLC10A1
17Hyodeoxycholic acid2410.0SLC10A2, SLC10A1
18Hyocholic acid2410.0SLC10A2, SLC10A1
19Glycochenodeoxycholate-3-sulfate2410.0SLC10A2, SLC10A1
203a,4b,12a-Trihydroxy-5b-cholanoic acid2410.0SLC10A2, SLC10A1
213a,12b-Dihydroxy-5b-cholanoic acid2410.0SLC10A2, SLC10A1
2212b-Hydroxy-5b-cholanoic acid2410.0SLC10A2, SLC10A1
2312a-Hydroxy-3-oxocholadienic acid2410.0SLC10A2, SLC10A1
2412-Ketodeoxycholic acid249.9SLC10A2, SLC10A1
251,3,7,12-Tetrahydroxycholan-24-oic acid249.9SLC10A2, SLC10A1
261,3,12-Trihydroxycholan-24-oic acid249.9SLC10A2, SLC10A1
27(3a,5b,7a)-23-Carboxy-7-hydroxy-24-norcholan-3-yl-b-D-Glucopyranosiduronic acid249.9SLC10A2, SLC10A1
283a,4b,7a,12a-Tetrahydroxy-5b-cholanoic acid249.9SLC10A1, SLC10A2
293a,4b,7a-Trihydroxy-5b-cholanoic acid249.9SLC10A1, SLC10A2
303b,4b,7a,12a-Tetrahydroxy-5b-cholanoic acid249.8SLC10A2, SLC10A1
313b,12b-Dihydroxy-5b-cholanoic acid249.8SLC10A2, SLC10A1
323b,12a-Dihydroxy-5b-cholanoic acid249.7SLC10A2, SLC10A1
333b,12a-Dihydroxy-5a-cholanoic acid249.7SLC10A2, SLC10A1
343a,6a,7b-Trihydroxy-5b-cholanoic acid249.7SLC10A2, SLC10A1
353a,6b,7b,12a-Tetrahydroxy-5b-cholanoic acid249.6SLC10A2, SLC10A1
36hepaplastin449.6HGF, GPT
37d-galactosamine449.6HGF, GPT
383a,6b,7a,12a-Tetrahydroxy-5b-cholanoic acid249.4SLC10A2, SLC10A1
39chenodeoxycholic acid44 28 24 1112.3SLC10A1, SLC10A2, GPT
40pioglitazone28 44 50 1112.2GPT, CTGF, MMP7
41pravastatin44 50 28 24 1113.1CTGF, GPT, SLC10A2
422,5-oligoadenylate449.1GPT, CXCL10, MX1
43ribavirin44 50 1111.1GPT, MX1, CXCL10
44ifn-alpha449.1MX1, CXCL10, GPT
45neopterin449.1GPT, CXCL10, MX1
46ccl444 289.9HGF, CXCL10, GPT
47ursodeoxycholic acid44 24 1110.8GPT, HGF, SLC10A2, SLC10A1
48cyclosporin a44 28 6110.7SLC10A1, CTGF, HGF, GPT
49retinoic acid44 249.4CTGF, HGF, CXCL10, MMP7, SLC10A2
50lipid447.6GPT, CXCL10, HGF, MX1, CTGF, SLC10A2

GO Terms for genes affiliated with Biliary Atresia

About this section

Cellular components related to Biliary Atresia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1proteinaceous extracellular matrixGO:0055789.2GPC1, MMP7, CTGF
2integral component of plasma membraneGO:0058879.1SLC10A1, SLC10A2, JAG1, GPC1
3extracellular spaceGO:0056158.2GPC1, MMP7, CXCL10, HGF, CTGF
4plasma membraneGO:0058867.9CFC1, GPC1, JAG1, CTGF, SLC10A2, SLC10A1
5extracellular regionGO:0055767.9CTGF, HGF, CXCL10, JAG1, MMP7, CFC1

Biological processes related to Biliary Atresia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1bile acid metabolic processGO:0082069.7SLC10A1, SLC10A2
2bile acid and bile salt transportGO:0157219.6SLC10A1, SLC10A2
3regulation of cell proliferationGO:0421279.2CXCL10, JAG1, MMP7
4small molecule metabolic processGO:0442817.7GPT, GPC1, CTGF, SLC10A2, SLC10A1

Molecular functions related to Biliary Atresia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1bile acid:sodium symporter activityGO:0085089.4SLC10A1, SLC10A2
2growth factor activityGO:0080839.1CTGF, HGF, JAG1

Products for genes affiliated with Biliary Atresia

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Biliary Atresia

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet