MCID: BLR001
MIFTS: 60

Biliary Atresia malady

Gastrointestinal, Liver, Fetal categories

Summaries for Biliary Atresia

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 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 b and hepatitis c. 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 heart, small intestine and kidney, and related mouse phenotypes are growth/size and liver/biliary system.

Description from OMIM:47 210500

Aliases & Classifications for Biliary Atresia

Sources:
8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 45Novoseek, 49Orphanet, 47OMIM, 61UMLS, 57SNOMED-CT, 27ICD9CM, 35MeSH, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 25ICD10
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
biliary atresia:
Inheritance: Multigenic/multifactorial; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

biliary atresia 8 43 10 45 49 47 61
non-syndromic biliary atresia 49
biliary atresia, congenital 8
congenital biliary atresia 8
atresia of bile ducts 49
atresia of bile duct 8
biliary atresia nos 8


External Ids:

Disease Ontology8 DOID:13608
ICD9CM27 751.61
MeSH35 D001656
NCIt40 C34421
OMIM47 210500
MESH via Orphanet36 D001656
ICD10 via Orphanet26 Q44.2
SNOMED-CT via Orphanet58 77480004
UMLS via Orphanet62 C0005411
ICD1025 Q44.2

Related Diseases for Biliary Atresia

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Biliary Atresia family:

biliary atresia with splenic malformation syndrome

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

(show top 50)    (show all 211)
idRelated DiseaseScoreTop Affiliating Genes
1hepatitis b30.8CXCL10, GPT, MX1, TGFB1
2hepatitis c30.6TIMP1, CXCL10, GPT, MX1, TGIF1, TGFB1
3intrahepatic cholestasis30.4SLC10A2, NR1H4, ATP8B1, JAG1
4alagille syndrome30.4ATP8B1, JAG1
5cystic fibrosis30.2OTC
6biliary atresia extrahepatic10.8
7choledochal cyst10.7
8hepatitis a10.6
9ascending cholangitis10.5
10hepatitis d10.4
11esophageal atresia10.4
12portal hypertension10.4
13situs inversus10.4
14hepatitis e10.4
15ichthyosis congenita biliary atresia10.4
16cytomegalovirus infection10.4
17portal vein thrombosis10.3
18duodenal atresia10.3
19extrahepatic cholestasis10.2
20brachydactyly10.2
21amenorrhea10.2
22hepatopulmonary syndrome10.2
23intestinal atresia10.2
24hypersplenism10.2
25n syndrome10.2
26patent ductus arteriosus10.2
27jejunal atresia10.2
28biliary atresia intrahepatic non syndromic form10.2
29biliary atresia intrahepatic syndromic form10.2
30biliary hypoplasia10.2
31lambert syndrome10.2
32hepatitis c virus10.2
33biliary atresia with splenic malformation syndrome10.2
34bone fracture10.0
35werdnig-hoffmann disease10.0
36multiple intestinal atresia10.0
37rubella10.0
38niemann-pick disease10.0
39goldenhar syndrome10.0
40glycogen storage disease v10.0
41ataxia telangiectasia10.0
42gastroschisis10.0
43neuroaxonal dystrophy10.0
44splenic infarction10.0
45hypospadias10.0
46intussusception10.0
47hypoplastic left heart syndrome10.0
48autoimmune hepatitis10.0
49measles10.0
50paratyphoid fever10.0

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



Diseases related to biliary atresia

Clinical Features for Biliary Atresia

Sources:
47OMIM
See all sources

Clinical features from OMIM:

210500

Clinical synopsis from OMIM:

210500

Drugs & Therapeutics for Biliary Atresia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Anatomical Context for Biliary Atresia

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Biliary Atresia:

33
Heart, Small intestine, Kidney, Liver, Pancreas, Thyroid, Skin, Myeloid, Monocytes, Nk cells, T cells, B cells, Endothelial, Temporal lobe, Fetal liver, Fetal thyroid

Animal Models for Biliary Atresia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Biliary Atresia

Sources:
51PubMed
See all sources

Articles related to Biliary Atresia:

(show top 50)    (show all 629)
idTitleAuthorsYear
1
Multicenter randomized trial of postoperative corticosteroid therapy for biliary atresia. (23989522)
2013
2
Can primary LDLT be the alternative first line treatment for infant patients with biliary atresia? (23298901)
2013
3
Diagnosis of Biliary Atresia Can not be Excluded by Declining Trend of Serum Direct Bilirubin. (24416496)
2013
4
Regulatory T cells inhibit Th1 cell-mediated bile duct injury in murine biliary atresia. (23685050)
2013
5
Laparoscopic Kasai portoenterostomy for biliary atresia. (23572285)
2013
6
Evidence from human and zebrafish that GPC1 is a biliary atresia susceptibility gene. (23336978)
2013
7
Connective tissue growth factor, liver stiffness and transient elastography in biliary atresia. (23607650)
2013
8
Hepatocellular telomere length in biliary atresia measured by Q-FISH. (22311140)
2012
9
Extrahepatic biliary atresia: Correlation of histopathology and liver function tests with surgical outcomes. (23243365)
2012
10
Objective differential characteristics of cystic biliary atresia and choledochal cysts in neonates and young infants: sonographic findings. (22644679)
2012
11
Clues to the etiology of bile duct injury in biliary atresia. (23397531)
2012
12
Inguinal hernias associated with biliary atresia. (22517517)
2012
13
The perinatal infection of cytomegalovirus is an important etiology for biliary atresia in China. (22144720)
2012
14
Endoscopic surveillance and primary prophylaxis sclerotherapy of esophageal varices in biliary atresia. (22614114)
2012
15
Problems related to CMV infection and biliary atresia. (23116753)
2012
16
The efficacy of measurement of the serum beta-D glucan in the patients with biliary atresia. (22903261)
2012
17
Morphometrical and immunohistochemical study of intrahepatic bile ducts in biliary atresia. (21694599)
2011
18
Hedgehog activity, epithelial-mesenchymal transitions, and biliary dysmorphogenesis in biliary atresia. (21480329)
2011
19
Does adjuvant steroid therapy post-Kasai portoenterostomy improve outcome of biliary atresia? Systematic review and meta-analysis. (21912769)
2011
20
Silencing of the rotavirus NSP4 protein decreases the incidence of biliary atresia in murine model. (21876759)
2011
21
Screening for biliary atresia: Swiss stool color card. (21488071)
2011
22
Assessment of liver fibrosis and cirrhosis by aspartate aminotransferase-to-platelet ratio index in children with biliary atresia. (20531020)
2010
23
Differential expression of hepatic fibrosis mediators in sick and spontaneously recovered mice with experimental biliary atresia. (20097372)
2010
24
Biliary atresia. (20484362)
2010
25
Multidetector computed tomography hepatic findings in children with end-stage biliary atresia. (20016905)
2010
26
Green teeth associated with neonatal hyperbilirubinemia caused by biliary atresia: review and case report. (21417125)
2010
27
Intellectual and visuo-spatial assessment in long-term pediatric liver transplantation for biliary atresia. (19424048)
2009
28
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
29
Successful living donor liver transplant in a child with Abernethy malformation with biliary atresia, ventricular septal defect and intrapulmonary shunting. (19254272)
2009
30
Endoscopic retrograde cholangiopancreaticography prior to explorative laparotomy avoids unnecessary surgery in patients suspected for biliary atresia. (19726099)
2009
31
Different polyunsaturated fatty acid profiles in patients with biliary atresia after successful Kasai operation and liver transplantation. (19184057)
2009
32
Birth defects in the child of a woman who had undergone a successful Kasai procedure for biliary atresia. (20078545)
2009
33
Integrin alphavbeta6 and mediators of extracellular matrix deposition are up-regulated in experimental biliary atresia. (19084240)
2009
34
Upstream stimulatory factor 2 is implicated in the progression of biliary atresia by regulation of hepcidin expression. (18970934)
2008
35
Prophylactic endoscopic sclerotherapy of large esophagogastric varices in infants with biliary atresia. (18308318)
2008
36
Analysis of the pathomorphology of the intra- and extrahepatic biliary system in biliary atresia. (18437653)
2008
37
Cholangiocyte expression of alpha2beta1-integrin confers susceptibility to rotavirus-induced experimental biliary atresia. (18436621)
2008
38
Macro-regenerative nodules in biliary atresia: CT/MRI findings and their pathological relations. (18680234)
2008
39
Biliary atresia: the Canadian experience. (18035148)
2007
40
Matrilysin (MMP-7) is a major matrix metalloproteinase upregulated in biliary atresia-associated liver fibrosis. (15696117)
2005
41
Coordinate expression of regulatory genes differentiates embryonic and perinatal forms of biliary atresia. (15057899)
2004
42
Initial experience with complex laparoscopic biliary surgery in children: biliary atresia and choledochal cyst. (15185200)
2004
43
Biliary atresia and cerebellar hypoplasia in polysplenia syndrome. (12830335)
2003
44
E-cadherin, alpha-catenin and beta-catenin in biliary atresia: correlation with apoptosis and cell cycle. (11844064)
2001
45
Are stable postoperative biliary atresia patients really stable? (11315264)
2001
46
Combined pure esophageal atresia, duodenal atresia, biliary atresia, and pancreatic ductal atresia: prenatal diagnostic features and review of the literature. (10813340)
2000
47
Hepatobiliary scintigraphy in the distinction between biliary hypoplasia and biliary atresia. (19864779)
1998
48
Nephromegaly and elevated hepatocyte growth factor in children with biliary atresia. (9016888)
1997
49
Growth hormone insensitivity in children with biliary atresia. (8856579)
1996
50
Effectiveness of an intussusceptive antireflux valve to prevent ascending cholangitis after hepatic portojejunostomy in biliary atresia. (1895188)
1991

Genetic Variations for Biliary Atresia

Expression for genes affiliated with Biliary Atresia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
4Cell Signaling Technology, 30KEGG, 52QIAGEN, 38NCBI BioSystems Database, 54Reactome
See all sources

Compounds for genes affiliated with Biliary Atresia

Sources:
45Novoseek, 24HMDB, 29IUPHAR, 11DrugBank, 50PharmGKB, 60Tocris Bioscience, 2BitterDB
See all sources

Compounds related to Biliary Atresia according to GeneCards/GeneDecks:

(show top 50)    (show all 114)
idCompoundScoreTop Affiliating Genes
1retinoic acid45 2412.0NR1H4, GHR, CTGF, HGF, TIMP1, IGFBP1
2cholesterol45 29 11 2414.0TIMP1, ATP8B1, GHR, NR1H4, IGFBP1, CXCL10
3vitamin d4510.9TGFB1, TIMP1, HGF, GHR, NR1H4, IGFBP1
4dexamethasone45 50 29 1113.9TIMP1, HGF, CTGF, SLC10A2, SPP1, TGIF1
5lipid4510.9HGF, CTGF, ATP8B1, NR1H4, IGFBP1, CXCL10
6lactate4510.9TIMP1, HGF, CTGF, IGFBP1, GPT, OTC
7progesterone45 60 29 11 2414.9TIMP1, GHR, NR1H4, IGFBP1, CXCL10, MMP7
8ribonucleic acid4510.9TIMP1, CTGF, GHR, IGFBP1, MMP7, SPP1
9ursodeoxycholic acid45 11 2412.9HGF, NR1H4, GPT, SLC10A2, SLC10A1
10creatinine4510.9GHR, IGFBP1, CXCL10, GPT, OTC, SPP1
11cycloheximide4510.9HGF, GHR, IGFBP1, CXCL10, MX1
12nitric oxide45 11 2412.9TIMP1, CTGF, JAG1, GHR, IGFBP1, CXCL10
13vegf4510.9TIMP1, HGF, CTGF, IGFBP1, CXCL10, MMP7
14procollagen4510.9TGFB1
15calcitriol45 60 11 2413.9TIMP1, GHR, NR1H4, IGFBP1, SPP1, TGIF1
16thymidine45 2411.9HGF, CTGF, GHR, NR1H4, IGFBP1, CXCL10
17tgf beta14510.9TIMP1, HGF, CTGF, SPP1, TGIF1, TGFB1
18alanine4510.9TIMP1, HGF, GHR, IGFBP1, CXCL10, GPT
19serine4510.9TIMP1, CTGF, MX1, SLC10A2, TGFB1
20pge24510.9TGFB1
21tacrolimus45 50 1112.9TIMP1, HGF, CXCL10, GPT, SPP1, TGFB1
22pioglitazone45 50 29 1113.9TIMP1, CTGF, IGFBP1, MMP7, GPT
23cyclosporin a45 29 6012.9CTGF, GPT, SLC10A1
24bleomycin45 1111.9TGFB1, SPP1, CTGF, HGF, TIMP1
25glucose4510.9OTC, MMP7, NR1H4, CTGF
26retinoid4510.9TIMP1, HGF, CTGF, NR1H4, SPP1, TGIF1
27matrigel4510.9MMP7, CXCL10
28sodium45 2411.9GHR, NR1H4, SLC10A2, SLC10A1, OTC
29p0024510.9TIMP1, CTGF, IGFBP1, MMP7, GPT
30indomethacin45 60 29 1113.8TIMP1, HGF, IGFBP1, SLC10A1, SPP1, TGFB1
31phosphatidylinositol4510.8TIMP1, HGF, CTGF, GHR, IGFBP1, CXCL10
32arginine4510.8TIMP1, HGF, GHR, NR1H4, IGFBP1, GPT
33taurocholate4510.8ATP8B1, NR1H4, SLC10A2, SLC10A1
34alginate4510.8TIMP1, HGF, SPP1, TGFB1
35glutamate4510.8OTC, GPT
36chenodeoxycholic acid45 29 11 2413.8SLC10A1, SLC10A2, GPT, NR1H4
37cytochalasin d45 6011.8TIMP1, CTGF, SPP1, TGIF1, TGFB1
38hyaluronic acid45 2411.8TIMP1, HGF, GPT, SPP1, TGFB1
39ribavirin45 50 1112.7TIMP1, CXCL10, GPT, MX1
40streptozotocin4510.7TIMP1
41hydroxyproline45 11 2412.7TIMP1, HGF, CTGF, TGFB1
42testosterone45 60 11 2413.7HGF, GHR, NR1H4, IGFBP1, SLC10A1, SPP1
43ccl445 2911.7TIMP1, HGF, CXCL10, GPT
44paraffin4510.6TIMP1, HGF, GHR, MMP7, SPP1, TGFB1
45cysteine4510.6TIMP1, CTGF, GHR, IGFBP1, MMP7, SLC10A2
46genistein45 29 60 2 11 2415.6TIMP1, HGF, IGFBP1, CXCL10, SPP1, TGIF1
47oligonucleotide4510.5CTGF, GHR, MMP7, OTC, SPP1, TGIF1
48chloramphenicol45 2 1112.5OTC, MX1, IGFBP1, GHR, TIMP1
49vitamin a45 11 2412.4TIMP1, HGF, GHR, IGFBP1
50glutamine4510.2TIMP1, HGF, GHR, GPT, OTC, TGFB1

GO Terms for genes affiliated with Biliary Atresia

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
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Sources for Biliary Atresia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet