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
Identification of the Plasma Metabolomics as Early Diagnostic Markers between Biliary Atresia and Neonatal Hepatitis Syndrome. (24416443)
2014
2
Factors influencing jaundice-free survival with the native liver in post-portoenterostomy biliary atresia patients: Results from a single institution. (24314172)
2013
3
Experience with endoscopic management of high-risk gastroesophageal varices, with and without bleeding, in children with biliary atresia. (23792202)
2013
4
Etiology of biliary atresia as a developmental anomaly: recent advances. (23567964)
2013
5
Native Liver Histology After Successful Portoenterostomy in Biliary Atresia. (24275708)
2013
6
Accuracy of hepatobiliary scintigraphy for differentiation of neonatal hepatitis from biliary atresia: systematic review and meta-analysis of the literature. (23519699)
2013
7
Clinical benefit of liver stiffness measurement at 3 months after Kasai hepatoportoenterostomy to predict the liver related events in biliary atresia. (24260445)
2013
8
Reappraise the effect of redo-Kasai for recurrent jaundice following Kasai operation for biliary atresia in the era of liver transplantation. (22872304)
2012
9
The impact of hepatic portoenterostomy on liver transplantation for the treatment of biliary atresia: early failure adversely affects outcome. (22463739)
2012
10
Efficacy of fat-soluble vitamin supplementation in infants with biliary atresia. (22891232)
2012
11
Initial experience of single-incision laparoscopic hepaticojejunostomy using conventional instruments for correctable biliary atresia. (22690690)
2012
12
Biliary atresia: clinical aspects. (22800970)
2012
13
Biliary atresia: cellular dynamics and immune dysregulation. (22800972)
2012
14
Biliary atresia. (22609296)
2012
15
Circulating microRNA is a biomarker of biliary atresia. (22732895)
2012
16
Prenatal non-visualization of fetal gallbladder: beware of biliary atresia! (21611993)
2011
17
Graft fibrosis in patients with biliary atresia after pediatric living-related liver transplantation. (21771230)
2011
18
Biliary atresia: new lessons learned from the past. (21900831)
2011
19
Home intravenous antibiotic treatment for intractable cholangitis in patients with biliary atresia following Kasai portoenterostomies. (22066060)
2011
20
Hepatic expression of multidrug resistance protein 2 in biliary atresia. (21813008)
2011
21
Ultrasonographic evaluation in the differential diagnosis of biliary atresia and infantile hepatitis syndrome. (21207229)
2011
22
Role of hepatic portocholecystostomy ('gallbladder Kasai') in treating infants with biliary atresia. (20726422)
2010
23
Biliary atresia in Brazil: where we are and where we are going. (21140041)
2010
24
Serum markers may distinguish biliary atresia from other forms of neonatal cholestasis. (20216099)
2010
25
The extent of biliary proliferation in liver biopsies from patients with biliary atresia at portoenterostomy is associated with the postoperative prognosis. (19361628)
2009
26
Revisited impact of recipient age on the outcome of living donor liver transplantation for biliary atresia in the recent "transplantation era" in Japan. (19207224)
2009
27
Histopathological features and accuracy for diagnosing biliary atresia by prelaparotomy liver biopsy in developing countries. (19196397)
2009
28
Elevated serum macrophage migration inhibitory factor levels in post-operative biliary atresia. (19423458)
2009
29
Inflammation mediated down-regulation of hepatobiliary transporters contributes to intrahepatic cholestasis and liver damage in murine biliary atresia. (19581828)
2009
30
Diagnosis and interventional radiological treatment of vascular and biliary complications after liver transplantation in children with biliary atresia. (18929792)
2008
31
Accuracy of echogenic periportal enlargement image in ultrasonographic exams and histopathology in differential diagnosis of biliary atresia. (18688554)
2008
32
Histological assessment of bile lake formation after hepatic portoenterostomy for biliary atresia. (18094980)
2008
33
Biliary atresia: service delivery and outcomes. (18395661)
2008
34
Immunohistochemical study on liver fibrosis in biliary atresia. (18507102)
2008
35
Liver transplantation for biliary atresia. (18261594)
2008
36
Innate immune response to double-stranded RNA in biliary epithelial cells is associated with the pathogenesis of biliary atresia. (17661372)
2007
37
Insignificant seasonal and geographical variation in incidence of biliary atresia in Japan: a regional survey of over 20 years. (18082714)
2007
38
Biliary atresia: a transplant perspective. (17969203)
2007
39
Hypoplastic left heart syndrome, interrupted inferior vena cava, biliary atresia. (17954104)
2007
40
Histological differentiation between prenatally diagnosed choledochal cyst and type I cystic biliary atresia using liver biopsy specimens. (16544223)
2006
41
Elevated expression of IL2 is associated with increased infiltration of CD8+ T cells in biliary atresia. (16481239)
2006
42
Connective tissue growth factor and progressive fibrosis in biliary atresia. (15459777)
2005
43
Successful management of concomitant omphalocele, accessory hepatic lobe, and biliary atresia in a 44-day-old boy. (16226970)
2005
44
HLA and cytokine gene polymorphisms in biliary atresia. (12100571)
2002
45
Nephromegaly relates to hepatocyte growth factor dysregulation in biliary atresia. (12172775)
2002
46
In situ CD14 expression in biliary atresia: comparison between early and late stages. (11150474)
2001
47
Biliary atresia with hyperandrogenic amenorrhea: case report. (10663856)
2000
48
Soluble ICAM-1 (sICAM-1) in biliary atresia and its relationship to disease activity. (9695739)
1998
49
Splenic infarction in a child with portal hypertension secondary to biliary atresia. (9126779)
1997
50
Hepatic overexpression of MHC class II antigens and macrophage-associated antigens (CD68) in patients with biliary atresia of poor prognosis. (9126761)
1997

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