MCID: BLR001
MIFTS: 62

Biliary Atresia malady

Rare diseases, Gastrointestinal diseases, Liver diseases, Fetal diseases categories

Summaries for Biliary Atresia

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66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 Biliary atresia, also known as \"extrahepatic ductopenia\" and \"progressive obliterative... more...

MalaCards: Biliary Atresia, also known as non-syndromic biliary atresia, is related to hepatitis and 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 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.

Description from OMIM:48 210500

Aliases & Classifications for Biliary Atresia

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9Disease Ontology, 44NIH Rare Diseases, 11DISEASES, 46Novoseek, 50Orphanet, 48OMIM, 63UMLS, 41NCIt, 59SNOMED-CT, 36MeSH, 28ICD9CM, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet, 26ICD10
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Classifications:



Characteristics (Orphanet epidemiological data):

50
biliary atresia:
Inheritance: Multigenic/multifactorial; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

biliary atresia 9 44 11 46 50 48 63
non-syndromic biliary atresia 50
biliary atresia, congenital 9
congenital biliary atresia 9
atresia of bile ducts 50
atresia of bile duct 9
biliary atresia nos 9


External Ids:

Disease Ontology9 DOID:13608
NCIt41 C34421
MeSH36 D001656
ICD9CM28 751.61
OMIM48 210500
MESH via Orphanet37 D001656
ICD10 via Orphanet27 Q44.2
SNOMED-CT via Orphanet60 77480004
UMLS via Orphanet64 C0005411
ICD1026 Q44.2

Related Diseases for Biliary Atresia

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18GeneCards, 19GeneDecks
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Diseases related to Biliary Atresia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 114)
idRelated DiseaseScoreTop Affiliating Genes
1hepatitis31.3CXCL10, HGF, GPT
2cholestasis30.9SLC10A1, GPT, SLC10A2, JAG1
3intrahepatic cholestasis30.5JAG1, SLC10A2
4hepatocellular carcinoma30.3JAG1, HGF, CTGF, GPT, MMP7
5galactosemia30.2GPT, JAG1, HGF
6congenital heart disease30.2JAG1
7hepatoblastoma30.0HGF, SLC10A1
8hepatitis c30.0GPT, CXCL10, MX1
9hepatitis b30.0CXCL10, GPT, MX1
10liver cirrhosis29.9CTGF, CXCL10, GPT, HGF
11choledochal cyst10.7
12cholangitis10.6
13ascending cholangitis10.5
14esophagitis10.5
15portal hypertension10.4
16situs inversus10.4
17hypertension10.4
18ichthyosis congenita biliary atresia10.4
19neonatal jaundice10.3
20biliary atresia extrahepatic10.3
21alagille syndrome10.3
22portal vein thrombosis10.3
23duodenitis10.3
24cystic fibrosis10.2
25hepatopulmonary syndrome10.2
26hyperandrogenism10.2
27intussusception10.2
28brachydactyly10.2
29amenorrhea10.2
30patent ductus arteriosus10.2
31cholangiocarcinoma10.2
32glycogen storage disease10.2
33pancreatitis10.2
34biliary atresia intrahepatic non syndromic form10.2
35biliary atresia intrahepatic syndromic form10.2
36duodenal atresia10.2
37jejunal atresia10.2
38lambert syndrome10.2
39cytomegalovirus infection10.2
40biliary atresia with splenic malformation syndrome10.2
41cholestasis, progressive familial intrahepatic 110.1JAG1, SLC10A2
42primary sclerosing cholangitis10.0GPT, JAG1
43bone fracture10.0
44rubella10.0
45splenic infarction10.0
46hypospadias10.0
47neuroaxonal dystrophy10.0
48hypoplastic left heart syndrome10.0
49autoimmune hepatitis10.0
50measles10.0

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



Diseases related to biliary atresia

Symptoms for Biliary Atresia

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48OMIM
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Symptoms by clinical synopsis from OMIM:

210500

Clinical features from OMIM:

210500

Drugs & Therapeutics for Biliary Atresia

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Biliary Atresia

Drug clinical trials:

Search ClinicalTrials for Biliary Atresia

Search NIH Clinical Center for Biliary Atresia

Search CenterWatch for Biliary Atresia

Genetic Tests for Biliary Atresia

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Anatomical Context for Biliary Atresia

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34MalaCards
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MalaCards organs/tissues related to Biliary Atresia:

34
Liver, Small intestine, Bone, T cells, Testes, Heart, Nk cells, B cells, Monocytes, Myeloid, Skin, Thyroid, Pancreas, Kidney, Endothelial

Animal Models for Biliary Atresia or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Biliary Atresia:

38
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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53PubMed
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Articles related to Biliary Atresia:

(show top 50)    (show all 616)
idTitleAuthorsYear
1
Identification of HSP90 as potential biomarker of biliary atresia using two-dimensional electrophoresis and mass spectrometry. (23874684)
2013
2
Perforin and granzymes work in synergy to mediate cholangiocyte injury in experimental biliary atresia. (24096050)
2013
3
Cystic fibrosis presenting with neonatal cholestasis simulating biliary atresia in a patient with a novel mutation. (22798282)
2013
4
Current options for management of biliary atresia. (23347466)
2013
5
Scottish outcomes for extra hepatic biliary atresia post-rationalisation of services. (23429893)
2013
6
Late-onset invasive group B Streptococcal infection with serotype VIII in a neonate having congenital biliary atresia. (23445746)
2013
7
Biliary atresia: a multidisciplinary approach to diagnosis and management. (22742548)
2012
8
Reappraising the portoenterostomy procedure according to sound physiologic/anatomic principles enhances postoperative jaundice clearance in biliary atresia. (22033773)
2012
9
Left hepatic lobectomy in a long-term biliary atresia survivor. (22878768)
2012
10
Hepatocellular telomere length in biliary atresia measured by Q-FISH. (22311140)
2012
11
Utility of Tc99m-Mebrofenin hepato-biliary scintigraphy (HIDA scan) for the diagnosis of biliary atresia. (22803298)
2012
12
Prenatal non-visualization of fetal gallbladder: beware of biliary atresia! (21611993)
2011
13
Morphometrical and immunohistochemical study of intrahepatic bile ducts in biliary atresia. (21694599)
2011
14
Biliary atresia in England and Wales: results of centralization and new benchmark. (21929975)
2011
15
Osteopontin upregulation in rotavirus-induced murine biliary atresia requires replicating virus but is not necessary for development of biliary atresia. (21742364)
2011
16
MDCT, MR and interventional radiology in biliary atresia candidates for liver transplantation. (22007284)
2011
17
RRAS: A key regulator and an important prognostic biomarker in biliary atresia. (21390152)
2011
18
Graft fibrosis in patients with biliary atresia after pediatric living-related liver transplantation. (21771230)
2011
19
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
20
Hedgehog activity, epithelial-mesenchymal transitions, and biliary dysmorphogenesis in biliary atresia. (21480329)
2011
21
Portal vein thrombosis in biliary atresia patients after living donor liver transplantation. (20570300)
2011
22
Neutrophils in biliary atresia. A study on their morphologic distribution and expression of CAP37. (20399025)
2010
23
Endotoxin and CD14 in the progression of biliary atresia. (21172039)
2010
24
Assessment of liver fibrosis and cirrhosis by aspartate aminotransferase-to-platelet ratio index in children with biliary atresia. (20531020)
2010
25
Selective rather than routine approach to endosopic retrograde cholangio-pancreatography in diagnosis of biliary atresia. (20347498)
2010
26
Differential expression of hepatic fibrosis mediators in sick and spontaneously recovered mice with experimental biliary atresia. (20097372)
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
Value of the liver function test in differential diagnosis of infantile hepatitis syndrome and biliary atresia]. (20113595)
2009
30
Outcome of biliary atresia in Malaysia: a single-centre study. (19493120)
2009
31
Circulating leptin levels and bone mineral density in children with biliary atresia. (18177445)
2008
32
Diagnosis and interventional radiological treatment of vascular and biliary complications after liver transplantation in children with biliary atresia. (18929792)
2008
33
Current concept about postoperative cholangitis in biliary atresia. (18402246)
2008
34
Advances in the understanding and treatment of biliary atresia. (18475102)
2008
35
Prolonged neonatal jaundice and the diagnosis of biliary atresia: a single-center analysis of trends in age at diagnosis and outcomes. (18443020)
2008
36
Review of historical cohort: ursodeoxycholic acid in extrahepatic biliary atresia. (18639689)
2008
37
Postoperative high-dose steroids do not improve mid-term survival with native liver in biliary atresia. (18177447)
2008
38
Management of hyperbilirubinemia in biliary atresia by hepatic progenitor cell transplantation through hepatic artery: a case report. (18555137)
2008
39
Upstream stimulatory factor 2 is implicated in the progression of biliary atresia by regulation of hepcidin expression. (18970934)
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

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Expression for genes affiliated with Biliary Atresia

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2BioGPS, 16Gene Expression Omnibus DataSets
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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

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51PathCards, 56Reactome, 31KEGG, 39NCBI BioSystems Database
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Compounds for genes affiliated with Biliary Atresia

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46Novoseek, 12DrugBank, 25HMDB, 30IUPHAR, 52PharmGKB, 62Tocris Bioscience
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Compounds related to Biliary Atresia according to GeneCards/GeneDecks:

(show top 50)    (show all 123)
idCompoundScoreTop Affiliating Genes
1glycochenodeoxycholic acid46 1211.1SLC10A1, SLC10A2
27a-Hydroxy-5b-cholanic acid2510.1SLC10A1, SLC10A2
37b,12a-Dihydroxycholanoic acid2510.1SLC10A1, SLC10A2
4Allochenodeoxycholic acid2510.1SLC10A1, SLC10A2
5Allocholic acid2510.1SLC10A1, SLC10A2
67a-Hydroxy-3-oxo-5b-cholanoic acid2510.1SLC10A2, SLC10A1
77a,12b-dihydroxy-5b-Cholan-24-oic acid2510.1SLC10A2, SLC10A1
83b,7a-Dihydroxy-5b-cholanoic acid2510.1SLC10A2, SLC10A1
93b,7a,12a-Trihydroxy-5b-cholanoic acid2510.1SLC10A2, SLC10A1
103b,7a,12a-Trihydroxy-5a-Cholanoic acid2510.1SLC10A2, SLC10A1
11Allodeoxycholic acid2510.0SLC10A1, SLC10A2
12Varanic acid2510.0SLC10A1, SLC10A2
13Isolithocholic acid2510.0SLC10A2, SLC10A1
14Isohyodeoxycholic acid2510.0SLC10A2, SLC10A1
15Isodeoxycholic acid2510.0SLC10A2, SLC10A1
16Isoallolithocholic acid2510.0SLC10A2, SLC10A1
17Hyodeoxycholic acid2510.0SLC10A2, SLC10A1
18Hyocholic acid2510.0SLC10A2, SLC10A1
19Glycochenodeoxycholate-3-sulfate2510.0SLC10A2, SLC10A1
203a,4b,12a-Trihydroxy-5b-cholanoic acid2510.0SLC10A2, SLC10A1
213a,12b-Dihydroxy-5b-cholanoic acid2510.0SLC10A2, SLC10A1
2212b-Hydroxy-5b-cholanoic acid2510.0SLC10A2, SLC10A1
2312a-Hydroxy-3-oxocholadienic acid2510.0SLC10A2, SLC10A1
2412-Ketodeoxycholic acid259.9SLC10A2, SLC10A1
251,3,7,12-Tetrahydroxycholan-24-oic acid259.9SLC10A2, SLC10A1
261,3,12-Trihydroxycholan-24-oic acid259.9SLC10A2, SLC10A1
27(3a,5b,7a)-23-Carboxy-7-hydroxy-24-norcholan-3-yl-b-D-Glucopyranosiduronic acid259.9SLC10A2, SLC10A1
283a,4b,7a,12a-Tetrahydroxy-5b-cholanoic acid259.9SLC10A1, SLC10A2
293a,4b,7a-Trihydroxy-5b-cholanoic acid259.9SLC10A1, SLC10A2
303b,4b,7a,12a-Tetrahydroxy-5b-cholanoic acid259.8SLC10A2, SLC10A1
313b,12b-Dihydroxy-5b-cholanoic acid259.8SLC10A2, SLC10A1
323b,12a-Dihydroxy-5b-cholanoic acid259.7SLC10A2, SLC10A1
333b,12a-Dihydroxy-5a-cholanoic acid259.7SLC10A2, SLC10A1
343a,6a,7b-Trihydroxy-5b-cholanoic acid259.7SLC10A2, SLC10A1
353a,6b,7b,12a-Tetrahydroxy-5b-cholanoic acid259.6SLC10A2, SLC10A1
36hepaplastin469.6HGF, GPT
37d-galactosamine469.6HGF, GPT
383a,6b,7a,12a-Tetrahydroxy-5b-cholanoic acid259.4SLC10A2, SLC10A1
39chenodeoxycholic acid46 30 25 1212.3SLC10A1, SLC10A2, GPT
40pioglitazone30 46 52 1212.2GPT, CTGF, MMP7
41pravastatin46 52 30 25 1213.1CTGF, GPT, SLC10A2
422,5-oligoadenylate469.1GPT, CXCL10, MX1
43ribavirin46 52 1211.1GPT, MX1, CXCL10
44ifn-alpha469.1MX1, CXCL10, GPT
45neopterin469.1GPT, CXCL10, MX1
46ccl446 309.9HGF, CXCL10, GPT
47ursodeoxycholic acid46 25 1210.8GPT, HGF, SLC10A2, SLC10A1
48cyclosporin a46 30 6210.7SLC10A1, CTGF, HGF, GPT
49retinoic acid46 259.4CTGF, HGF, CXCL10, MMP7, SLC10A2
50lipid467.6GPT, CXCL10, HGF, MX1, CTGF, SLC10A2

GO Terms for genes affiliated with Biliary Atresia

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17Gene Ontology
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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

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Sources for Biliary Atresia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet