MCID: BLR001
MIFTS: 67

Biliary Atresia malady

Gastrointestinal diseases, Liver diseases, Fetal diseases categories

Summaries for Biliary Atresia

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 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 Angiogenesis and Bile secretion. The compounds retinoic acid and cholesterol have been mentioned in the context of this disorder. Affiliated tissues include liver, small intestine and bone, and related mouse phenotypes are growth/size and liver/biliary system.

Description from OMIM:46 210500

Aliases & Classifications for Biliary Atresia

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8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 48Orphanet, 46OMIM, 60UMLS, 56SNOMED-CT, 27ICD9CM, 34MeSH, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 25ICD10
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Classifications:

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


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

biliary atresia 8 42 10 44 48 46 60
non-syndromic biliary atresia 48
biliary atresia, congenital 8
congenital biliary atresia 8
atresia of bile ducts 48
atresia of bile duct 8
biliary atresia nos 8


External Ids:

Disease Ontology8 DOID:13608
ICD9CM27 751.61
MeSH34 D001656
NCIt39 C34421
OMIM46 210500
MESH via Orphanet35 D001656
ICD10 via Orphanet26 Q44.2
SNOMED-CT via Orphanet57 77480004
UMLS via Orphanet61 C0005411
ICD1025 Q44.2

Related Diseases for Biliary Atresia

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17GeneCards, 18GeneDecks
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Diseases related to Biliary Atresia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 202)
idRelated DiseaseScoreTop Affiliating Genes
1hepatitis31.3TIMP1, GPT
2cholestasis30.8JAG1, ATP8B1, NR1H4, GPT, SLC10A2, SLC10A1
3hypertension30.6TGFB1
4hepatocellular carcinoma30.4TIMP1, HGF, CTGF, JAG1, MMP7, GPT
5intrahepatic cholestasis30.3SLC10A2, NR1H4, ATP8B1, JAG1
6alagille syndrome30.3ATP8B1, JAG1
7liver cirrhosis30.2TIMP1, HGF, CTGF, GHR, MMP7, GPT
8pancreatitis30.2TGFB1
9galactosemia30.2HGF, JAG1, GPT, OTC
10cholangiocarcinoma30.2HGF, MMP7
11cystic fibrosis30.2OTC
12hyperandrogenism30.2IGFBP1
13hepatitis c30.0TIMP1, CXCL10, GPT, MX1, TGIF1, TGFB1
14hepatoblastoma30.0HGF, NR1H4, SLC10A1, OTC
15hepatitis b30.0CXCL10, GPT, MX1, TGFB1
16choledochal cyst10.6
17cholangitis10.6
18hepatitis a10.6
19ascending cholangitis10.5
20esophageal atresia10.4
21esophagitis10.4
22portal hypertension10.4
23situs inversus10.4
24ichthyosis congenita biliary atresia10.3
25neonatal jaundice10.3
26biliary atresia extrahepatic10.3
27portal vein thrombosis10.2
28intestinal atresia10.2
29duodenitis10.2
30liver disease10.2
31extrahepatic cholestasis10.1
32brachydactyly10.1
33amenorrhea10.1
34hepatopulmonary syndrome10.1
35intussusception10.1
36hypersplenism10.1
37patent ductus arteriosus10.1
38glycogen storage disease10.1
39biliary atresia intrahepatic non syndromic form10.1
40biliary atresia intrahepatic syndromic form10.1
41biliary atresia with splenic malformation syndrome10.1
42bone fracture10.0
43werdnig-hoffmann disease10.0
44multiple intestinal atresia10.0
45rubella10.0
46niemann-pick disease10.0
47goldenhar syndrome10.0
48epstein-barr virus hepatitis10.0
49hepatitis e10.0
50ataxia telangiectasia10.0

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



Diseases related to biliary atresia

Clinical Features for Biliary Atresia

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46OMIM
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Clinical features from OMIM:

210500

Clinical synopsis from OMIM:

210500

Drugs & Therapeutics for Biliary Atresia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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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32MalaCards
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MalaCards organs/tissues related to Biliary Atresia:

32
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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36MGI
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MGI Mouse Phenotypes related to Biliary Atresia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537810.7GHR, ATP8B1, JAG1, CTGF, HGF, TIMP1
2MP:000537010.7TGFB1, HGF, JAG1, ATP8B1, GHR, NR1H4
3MP:000537610.7NR1H4, GHR, ATP8B1, JAG1, CTGF, TIMP1
4MP:000538510.7TIMP1, HGF, CTGF, JAG1, GHR, CXCL10
5MP:001076810.6GHR, JAG1, CTGF, HGF, TIMP1, NR1H4
6MP:000538410.6HGF, CTGF, JAG1, NR1H4, IGFBP1, CXCL10
7MP:000538710.5IGFBP1, NR1H4, GHR, TIMP1, CXCL10, MMP7
8MP:000538010.5CFC1, GHR, CTGF
9MP:000539710.4TIMP1, HGF, JAG1, GHR, CXCL10, CFC1
10MP:000200610.2TIMP1, NR1H4, MMP7, GPC1, SPP1, TGFB1

Publications for Biliary Atresia

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50PubMed
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Articles related to Biliary Atresia:

(show top 50)    (show all 629)
idTitleAuthorsYear
1
Current options for management of biliary atresia. (23347466)
2013
2
Assessment of risk of bleeding from esophageal varices during management of biliary atresia in children. (23263589)
2013
3
Rotavirus replication in the cholangiocyte mediates the temporal dependence of murine biliary atresia. (23844248)
2013
4
Cholangitis in children with biliary atresia: Health-care resource utilisation. (24373065)
2013
5
The most reliable early predictors of outcome in patients with biliary atresia after Kasai's operation. (24314173)
2013
6
I+-SMA overexpression associated with increased liver fibrosis in infants with biliary atresia. (22785417)
2012
7
Portal vein reconstruction in pediatric living donor liver transplantation for patients younger than 1 year with biliary atresia. (22424348)
2012
8
The role of CK7, Ki-67, CD34 and vimentin in the differentiation between biliary atresia and idiopathic neonatal hepatitis in Egyptian cholestatic neonates. (22716208)
2012
9
Hemodynamic changes during the anhepatic phase in pediatric patient with biliary atresia versus glycogen storage disease undergoing living donor liver transplantation. (22410048)
2012
10
Early diagnosis of extrahepatic biliary atresia in an open-access medical system. (23185392)
2012
11
Noninvasive acoustic radiation force impulse (ARFI) elastography for assessing the severity of fibrosis in the post-operative patients with biliary atresia. (22864589)
2012
12
Clinical and biochemical factors associated with biliary atresia. (23600053)
2012
13
MDCT, MR and interventional radiology in biliary atresia candidates for liver transplantation. (22007284)
2011
14
DNA hypomethylation causes bile duct defects in zebrafish and is a distinguishing feature of infantile biliary atresia. (21319190)
2011
15
Hepatocellular carcinoma in biliary atresia: King's College Hospital experience. (21489554)
2011
16
Effects of the infant stool color card screening program on 5-year outcome of biliary atresia in Taiwan. (21140377)
2011
17
Study of viral infections in infants with biliary atresia. (21165718)
2011
18
Association of polymorphisms in the Interleukin-18 gene with susceptibility to biliary atresia. (21464751)
2011
19
Association of X-prolyl aminopeptidase 1 rs17095355 polymorphism with biliary atresia in Thai children. (22118303)
2011
20
Computed tomography indices and criteria for the prediction of esophageal variceal bleeding in survivors of biliary atresia awaiting liver transplantation. (22464833)
2011
21
Association of circulating osteopontin levels with clinical outcomes in postoperative biliary atresia. (21046114)
2011
22
Biliary atresia in neonates and infants. (22096002)
2011
23
Unusual presentation of biliary atresia splenic malformation syndrome with autosomal dominant hypospadias. (22303794)
2011
24
Polynesian ecology determines seasonality of biliary atresia. (21748760)
2011
25
Living-donor liver transplantation in 126 patients with biliary atresia: single-center experience. (21168643)
2010
26
NF-kappaB related abnormal hyper-expression of iNOS and NO correlates with the inflammation procedure in biliary atresia livers. (20686896)
2010
27
Immunohistochemical localization of transforming growth factor I^-1 and its relationship with collagen expression in advanced liver fibrosis due to biliary atresia. (21694865)
2010
28
Correlation of circulating endoglin with clinical outcome in biliary atresia. (20383820)
2010
29
Surgical outcome in relation to duct size at the porta hepatis and the use of cholagogues in patients with biliary atresia. (21560523)
2010
30
Recent progress in the etiopathogenesis of pediatric biliary disease, particularly Caroli's disease with congenital hepatic fibrosis and biliary atresia. (20017109)
2010
31
Value of the liver function test in differential diagnosis of infantile hepatitis syndrome and biliary atresia]. (20113595)
2009
32
Comparison of different diagnostic methods for differentiating biliary atresia from idiopathic neonatal hepatitis. (19857804)
2009
33
The development of intrapulmonary arteriovenous shunts as a poor prognostic factor following surgery for biliary atresia. (19760999)
2009
34
Circulating leptin levels and bone mineral density in children with biliary atresia. (18177445)
2008
35
Swiss outcomes in biliary atresia: are there lessons to be learned? (18376239)
2008
36
Postoperative high-dose steroids do not improve mid-term survival with native liver in biliary atresia. (18177447)
2008
37
Biliary atresia: is lack of innate immune response tolerance key to pathogenesis? (18433387)
2008
38
Detection of Epstein Barr virus by chromogenic in situ hybridization in cases of extra-hepatic biliary atresia. (18442403)
2008
39
Hepatocellular carcinoma complicating biliary atresia after Kasai portoenterostomy. (18301305)
2008
40
Timing for orthotopic liver transplantation in children with biliary atresia: a single-center experience. (18929777)
2008
41
Biliary atresia: recent progress. (18496390)
2008
42
Timing of liver transplantation in biliary atresia-results in 71 children managed by a multidisciplinary team. (18778993)
2008
43
Differential diagnosis of infantile choledochal cyst with or without biliary atresia. (17180784)
2006
44
Brachydactyly with extrahepatic biliary atresia, patent ductus arteriosus and seizures--a new syndrome? (15930899)
2005
45
Biliary atresia with hyperandrogenic amenorrhea. (11315291)
2001
46
Hepatic basolateral sodium-dependent-bile acid transporter expression in two unusual cases of hypercholanemia and in extrahepatic biliary atresia. (9141436)
1997
47
Assay of gamma-glutamyl transpeptidase activity in amniotic fluid offers a possible prenatal diagnosis of biliary atresia in the rat model. (9021823)
1997
48
Pre-operative time course changes in liver function tests in biliary atresia: its usefulness in the discrimination of biliary atresia in early infancy. (8942012)
1996
49
The use of diethyl-IDA Tc 99m clearance curves in the differentiation of biliary atresia from other forms of neonatal jaundice. (7063701)
1982
50
CASE REPORT: THE COINCIDENCE OF BILIARY ATRESIA AND THE HETEROZYGOUS STATE OF GALACTOSEMIA. (14296410)
1965

Genetic Variations for Biliary Atresia

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Expression for genes affiliated with Biliary Atresia

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1BioGPS, 15Gene 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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Sources:
4Cell Signaling Technology, 29KEGG, 51QIAGEN, 37NCBI BioSystems Database, 53Reactome
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Compounds for genes affiliated with Biliary Atresia

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Sources:
44Novoseek, 24HMDB, 28IUPHAR, 11DrugBank, 49PharmGKB, 59Tocris Bioscience, 2BitterDB
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Compounds related to Biliary Atresia according to GeneCards/GeneDecks:

(show top 50)    (show all 114)
idCompoundScoreTop Affiliating Genes
1retinoic acid44 2412.0NR1H4, GHR, CTGF, HGF, TIMP1, IGFBP1
2cholesterol44 28 11 2414.0TIMP1, ATP8B1, GHR, NR1H4, IGFBP1, CXCL10
3vitamin d4410.9TGFB1, TIMP1, HGF, GHR, NR1H4, IGFBP1
4dexamethasone44 49 28 1113.9TIMP1, HGF, CTGF, SLC10A2, SPP1, TGIF1
5lipid4410.9HGF, CTGF, ATP8B1, NR1H4, IGFBP1, CXCL10
6lactate4410.9TIMP1, HGF, CTGF, IGFBP1, GPT, OTC
7progesterone44 59 28 11 2414.9TIMP1, GHR, NR1H4, IGFBP1, CXCL10, MMP7
8ribonucleic acid4410.9TIMP1, CTGF, GHR, IGFBP1, MMP7, SPP1
9ursodeoxycholic acid44 11 2412.9HGF, NR1H4, GPT, SLC10A2, SLC10A1
10creatinine4410.9GHR, IGFBP1, CXCL10, GPT, OTC, SPP1
11cycloheximide4410.9HGF, GHR, IGFBP1, CXCL10, MX1
12nitric oxide44 11 2412.9TIMP1, CTGF, JAG1, GHR, IGFBP1, CXCL10
13vegf4410.9TIMP1, HGF, CTGF, IGFBP1, CXCL10, MMP7
14procollagen4410.9TGFB1
15calcitriol44 59 11 2413.9TIMP1, GHR, NR1H4, IGFBP1, SPP1, TGIF1
16thymidine44 2411.9HGF, CTGF, GHR, NR1H4, IGFBP1, CXCL10
17tgf beta14410.9TIMP1, HGF, CTGF, SPP1, TGIF1, TGFB1
18alanine4410.9TIMP1, HGF, GHR, IGFBP1, CXCL10, GPT
19serine4410.9TIMP1, CTGF, MX1, SLC10A2, TGFB1
20pge24410.9TGFB1
21tacrolimus44 49 1112.9TIMP1, HGF, CXCL10, GPT, SPP1, TGFB1
22pioglitazone44 49 28 1113.9TIMP1, CTGF, IGFBP1, MMP7, GPT
23cyclosporin a44 28 5912.9CTGF, GPT, SLC10A1
24bleomycin44 1111.9TGFB1, SPP1, CTGF, HGF, TIMP1
25glucose4410.9OTC, MMP7, NR1H4, CTGF
26retinoid4410.9TIMP1, HGF, CTGF, NR1H4, SPP1, TGIF1
27matrigel4410.9MMP7, CXCL10
28sodium44 2411.9GHR, NR1H4, SLC10A2, SLC10A1, OTC
29p0024410.9TIMP1, CTGF, IGFBP1, MMP7, GPT
30indomethacin44 59 28 1113.8TIMP1, HGF, IGFBP1, SLC10A1, SPP1, TGFB1
31phosphatidylinositol4410.8TIMP1, HGF, CTGF, GHR, IGFBP1, CXCL10
32arginine4410.8TIMP1, HGF, GHR, NR1H4, IGFBP1, GPT
33taurocholate4410.8ATP8B1, NR1H4, SLC10A2, SLC10A1
34alginate4410.8TIMP1, HGF, SPP1, TGFB1
35glutamate4410.8OTC, GPT
36chenodeoxycholic acid44 28 11 2413.8SLC10A1, SLC10A2, GPT, NR1H4
37cytochalasin d44 5911.8TIMP1, CTGF, SPP1, TGIF1, TGFB1
38hyaluronic acid44 2411.8TIMP1, HGF, GPT, SPP1, TGFB1
39ribavirin44 49 1112.7TIMP1, CXCL10, GPT, MX1
40streptozotocin4410.7TIMP1
41hydroxyproline44 11 2412.7TIMP1, HGF, CTGF, TGFB1
42testosterone44 59 11 2413.7HGF, GHR, NR1H4, IGFBP1, SLC10A1, SPP1
43ccl444 2811.7TIMP1, HGF, CXCL10, GPT
44paraffin4410.6TIMP1, HGF, GHR, MMP7, SPP1, TGFB1
45cysteine4410.6TIMP1, CTGF, GHR, IGFBP1, MMP7, SLC10A2
46genistein44 28 59 2 11 2415.6TIMP1, HGF, IGFBP1, CXCL10, SPP1, TGIF1
47oligonucleotide4410.5CTGF, GHR, MMP7, OTC, SPP1, TGIF1
48chloramphenicol44 2 1112.5OTC, MX1, IGFBP1, GHR, TIMP1
49vitamin a44 11 2412.4TIMP1, HGF, GHR, IGFBP1
50glutamine4410.2TIMP1, HGF, GHR, GPT, OTC, TGFB1

GO Terms for genes affiliated with Biliary Atresia

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16Gene Ontology
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Cellular components related to Biliary Atresia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:00557610.5TGFB1, TIMP1, HGF, CTGF, JAG1, GHR
2proteinaceous extracellular matrixGO:00557810.5TGFB1, GPC1, MMP7, CTGF
3extracellular spaceGO:00561510.4HGF, CTGF, GHR, IGFBP1, CXCL10, MMP7
4platelet alpha granule lumenGO:03109310.2TIMP1, HGF, TGFB1

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1bile acid metabolic processGO:00820610.7SLC10A1, SLC10A2, NR1H4, ATP8B1
2response to vitamin DGO:03328010.7CXCL10, SPP1, TGFB1
3bile acid and bile salt transportGO:01572110.6SLC10A1, SLC10A2, ATP8B1
4nodal signaling pathwayGO:03809210.6TGIF1, CFC1
5response to glucose stimulusGO:00974910.6CTGF, NR1H4, TGFB1
6response to drugGO:04249310.5TGFB1, TGIF1, OTC, MMP7
7response to estradiol stimulusGO:03235510.5TGFB1, GHR, CTGF
8platelet degranulationGO:00257610.4TGFB1, HGF, TIMP1
9extracellular matrix organizationGO:03019810.2TIMP1, MMP7, SPP1, TGFB1

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

idNameGO IDScoreTop Affiliating Genes
1bile acid:sodium symporter activityGO:00850810.5SLC10A1, SLC10A2
2growth factor activityGO:00808310.2TGFB1, JAG1, CTGF, HGF

Products for genes affiliated with Biliary Atresia

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  • Antibodies
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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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet