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
Perforin and granzymes work in synergy to mediate cholangiocyte injury in experimental biliary atresia. (24096050)
2013
2
Scottish outcomes for extra hepatic biliary atresia post-rationalisation of services. (23429893)
2013
3
Prevention of cholestasis in the murine rotavirus-induced biliary atresia model using passive immunization and nonreplicating virus-like particles. (23887039)
2013
4
Redo surgery for biliary atresia. (23982391)
2013
5
Participation of natural killer cells in the pathogenesis of bile duct lesions in biliary atresia. (23162109)
2013
6
Liver transplantation for children with biliary atresia in the pediatric end-stage liver disease era: the role of insurance status. (23447504)
2013
7
Interleukin-33 overexpression is associated with gamma-glutamyl transferase in biliary atresia. (23178147)
2013
8
Extrahepatic biliary atresia with choledochal cyst: Prenatal MRI predicted and post natally confirmed: A case report. (24347854)
2013
9
Early surgical outcomes and pathological scoring values of older infants (a8Y 90 d old) with biliary atresia. (23217873)
2012
10
Laparoscopic versus conventional Kasai portoenterostomy does not facilitate subsequent liver transplantation in infants with biliary atresia. (22577810)
2012
11
Impact factors in biliary atresia. (23116744)
2012
12
Less-invasive MR indices of clinically evident esophageal variceal bleeding in biliary atresia patients. (23021504)
2012
13
Hepatocellular carcinoma in an infant with biliary atresia younger than 1 year. (22498405)
2012
14
Regulatory T cells control the CD8 adaptive immune response at the time of ductal obstruction in experimental biliary atresia. (22334397)
2012
15
Education and imaging. Hepatobiliary and pancreatic: extrahepatic biliary atresia in an adult. (22712711)
2012
16
Subdural hemorrhage: A unique case involving secondary vitamin K deficiency bleeding due to biliary atresia. (22607980)
2012
17
Rotavirus infection of human cholangiocytes parallels the murine model of biliary atresia. (22785360)
2012
18
Biliary complications and management in pediatric living donor liver transplantation for underlying biliary atresia. (22410049)
2012
19
Biliary atresia in England and Wales: results of centralization and new benchmark. (21929975)
2011
20
Laparoscopic portoenterostomy for uncorrectable biliary atresia using Kasai's original technique. (21457118)
2011
21
Changes in epigenetic regulation of CD4+ T lymphocytesin biliary atresia. (21857377)
2011
22
Mortality of biliary atresia in children not undergoing liver transplantation in the Netherlands. (21199212)
2011
23
Use of multi-detector row CT for postoperative follow-up of biliary atresia patients with sequelae. (20936476)
2011
24
Efficacy of US-guided percutaneous cholecystocholangiography for the early exclusion and type determination of biliary atresia. (21998045)
2011
25
Endotoxin and CD14 in the progression of biliary atresia. (21172039)
2010
26
Selective rather than routine approach to endosopic retrograde cholangio-pancreatography in diagnosis of biliary atresia. (20347498)
2010
27
Language and motor skills are impaired in infants with biliary atresia before transplantation. (20223479)
2010
28
Increased osteopontin and liver stiffness measurement by transient elastography in biliary atresia. (21086566)
2010
29
The evolution of biliary atresia in early life. (19548197)
2010
30
Biliary atresia: the Brazilian experience. (21140036)
2010
31
Zimmermann-Laband syndrome in a child previously described with brachydactyly, extrahepatic biliary atresia, patent ductus arteriosus and seizures. (20009591)
2010
32
I+-enolase autoantibodies cross-reactive to viral proteins in a mouse model of biliary atresia. (20659472)
2010
33
Ultrasound findings in biliary atresia: the role of triangular cord sign. (19579927)
2009
34
Prolonged neonatal jaundice and the diagnosis of biliary atresia: a single-center analysis of trends in age at diagnosis and outcomes. (18443020)
2008
35
Assessment of latent manganese toxicity as a prognostic factor following surgery for biliary atresia. (18302065)
2008
36
Induction of innate immune response and absence of subsequent tolerance to dsRNA in biliary epithelial cells relate to the pathogenesis of biliary atresia. (18433391)
2008
37
The effect of recipient-specific surgical issues on outcome of liver transplantation in biliary atresia. (18444930)
2008
38
CFC1 gene involvement in biliary atresia with polysplenia syndrome. (18162845)
2008
39
Elevation of serum stem-cell factor in postoperative biliary atresia. (18045291)
2007
40
Growth curves of pediatric patients with biliary atresia following living donor liver transplantation: factors that influence post-transplantation growth. (17910654)
2007
41
Analysis of connective tissue growth factor promoter polymorphism in Thai children with biliary atresia. (17375628)
2007
42
Increasing calories, decreasing morbidity and mortality: is improved nutrition the answer to better outcomes in patients with biliary atresia? (17969044)
2007
43
Type-I but not type-II interferon receptor knockout mice are susceptible to biliary atresia. (16641200)
2006
44
Identification, genomic organization, chromosomal mapping and mutation analysis of the human INV gene, the ortholog of a murine gene implicated in left-right axis development and biliary atresia. (11935322)
2002
45
Restrictive cardiomyopathy in a patient with extrahepatic biliary atresia. (11410702)
2001
46
Choledochal cyst with biliary atresia: scintigraphy and correlative imaging. (11353311)
2001
47
A relapse of paratyphoid fever after treatment with ciprofloxacin in a child with congenital biliary atresia. (9183498)
1997
48
Partial splenic embolization decreases the serum bilirubin level in patients with hypersplenism following the Kasai procedure for biliary atresia. (8603238)
1996
49
An association of multiple intestinal atresia and biliary atresia: a case report. (8773232)
1995
50
Neonatal jaundice and biliary atresia. (403623)
1977

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