EHBA
MCID: BLR028
MIFTS: 35

Biliary Atresia, Extrahepatic (EHBA)

Categories: Fetal diseases, Liver diseases, Rare diseases

Aliases & Classifications for Biliary Atresia, Extrahepatic

MalaCards integrated aliases for Biliary Atresia, Extrahepatic:

Name: Biliary Atresia, Extrahepatic 57 75 55
Isolated Atresia of Bile Ducts 59
Non-Syndromic Biliary Atresia 59
Isolated Biliary Atresia 59
Biliary Atresia 72
Ehba 57

Characteristics:

Orphanet epidemiological data:

59
isolated biliary atresia
Inheritance: Multigenic/multifactorial; Prevalence: 1-9/100000 (Europe),1-9/100000 (Belgium),1-9/100000 (France),1-5/10000 (Germany),1-9/100000 (Italy),1-5/10000 (Netherlands),1-9/100000 (Norway),1-9/100000 (Spain),1-5/10000 (Switzerland),1-9/100000 (United Kingdom),1-5/10000 (Ukraine),1-5/10000 (Worldwide),1-9/100000 (Japan); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
multifactorial

Miscellaneous:
progressive disorder
onset in early infancy
most patients require liver transplantation within the first year of life
incidence of 1 in 10,000 live births
increased incidence in asian countries (e.g., 1.46 per 10,000 live births in taiwan)


HPO:

32
biliary atresia, extrahepatic:
Onset and clinical course infantile onset progressive


Classifications:



External Ids:

OMIM 57 210500
MESH via Orphanet 45 D001656
ICD10 via Orphanet 34 Q44.2
UMLS via Orphanet 73 C0005411
Orphanet 59 ORPHA30391
MedGen 42 C4520983
UMLS 72 C0005411

Summaries for Biliary Atresia, Extrahepatic

OMIM : 57 Biliary atresia is a disorder of infants in which there is progressive obliteration or discontinuity of the extrahepatic biliary system, resulting in obstruction of bile flow. Untreated, the resulting cholestasis leads to progressive conjugated hyperbilirubinemia, cirrhosis, and hepatic failure (Bates et al., 1998). Most patients require liver transplantation within the first year of life (Leyva-Vega et al., 2010). See also Alagille syndrome (118450), which includes biliary atresia as a feature. (210500)

MalaCards based summary : Biliary Atresia, Extrahepatic, also known as isolated atresia of bile ducts, is related to cholestasis and biliary atresia, and has symptoms including icterus An important gene associated with Biliary Atresia, Extrahepatic is GPC1 (Glypican 1). The drugs Meloxicam and Anti-Inflammatory Agents have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and testes, and related phenotypes are hepatomegaly and cirrhosis

Wikipedia : 75 Biliary atresia, also known as extrahepatic ductopenia and progressive obliterative cholangiopathy, is a... more...

Related Diseases for Biliary Atresia, Extrahepatic

Diseases related to Biliary Atresia, Extrahepatic via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 cholestasis 29.4 JAG1 GGT1
2 biliary atresia 10.7
3 varicose veins 10.2
4 esophageal varix 10.2
5 hypersplenism 10.2
6 portal hypertension 10.1
7 obstructive jaundice 10.1
8 bilirubin metabolic disorder 10.1
9 cholangitis 10.1
10 cholangitis, primary sclerosing 10.0
11 sclerosing cholangitis 10.0
12 syndromic biliary atresia 10.0
13 intrahepatic cholestasis of pregnancy 9.2 JAG1 GGT1

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



Diseases related to Biliary Atresia, Extrahepatic

Symptoms & Phenotypes for Biliary Atresia, Extrahepatic

Human phenotypes related to Biliary Atresia, Extrahepatic:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 hepatomegaly 32 HP:0002240
2 cirrhosis 32 HP:0001394
3 elevated hepatic transaminase 32 HP:0002910
4 jaundice 32 HP:0000952
5 unconjugated hyperbilirubinemia 32 HP:0008282
6 acholic stools 32 HP:0011985
7 increased total bilirubin 32 HP:0003573
8 extrahepatic biliary duct atresia 32 HP:0005242
9 portal fibrosis 32 HP:0006580
10 bile duct proliferation 32 HP:0001408
11 atretic gallbladder 32 HP:0011984

Symptoms via clinical synopsis from OMIM:

57
Abdomen Liver:
hepatomegaly
cirrhosis
bile duct proliferation
liver biopsy shows portal and/or bridging fibrosis
bile duct plugging

Abdomen Gastrointestinal:
acholic stools

Abdomen Biliary Tract:
atretic gallbladder
biliary atresia, extrahepatic
fibrotic extrahepatic bile ducts

Skin Nails Hair Skin:
jaundice

Laboratory Abnormalities:
increased total bilirubin
abnormal liver enzymes
increased indirect bilirubin

Clinical features from OMIM:

210500

UMLS symptoms related to Biliary Atresia, Extrahepatic:


icterus

Drugs & Therapeutics for Biliary Atresia, Extrahepatic

Drugs for Biliary Atresia, Extrahepatic (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 86)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Meloxicam Approved, Vet_approved Phase 4 71125-38-7 5281106 54677470
2 Anti-Inflammatory Agents Phase 4
3 Analgesics Phase 4
4 Peripheral Nervous System Agents Phase 4
5 Cyclooxygenase Inhibitors Phase 4
6 Analgesics, Non-Narcotic Phase 4
7 Cyclooxygenase 2 Inhibitors Phase 4
8 Anti-Inflammatory Agents, Non-Steroidal Phase 4
9 Antirheumatic Agents Phase 4
10
Pentoxifylline Approved, Investigational Phase 2 6493-05-6 4740
11
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
12 Antibodies Phase 1, Phase 2
13 Rho(D) Immune Globulin Phase 1, Phase 2
14 Immunoglobulins Phase 1, Phase 2
15 Immunoglobulins, Intravenous Phase 1, Phase 2
16 gamma-Globulins Phase 1, Phase 2
17
Bilirubin Phase 2 635-65-4, 69853-43-6 5280352 21252250
18 Platelet Aggregation Inhibitors Phase 2
19 Pharmaceutical Solutions Phase 2
20 Antioxidants Phase 2
21 Free Radical Scavengers Phase 2
22 Phosphodiesterase Inhibitors Phase 2
23 Protective Agents Phase 2
24 Radiation-Protective Agents Phase 2
25 Vasodilator Agents Phase 2
26 Anti-Infective Agents Phase 2
27 N-monoacetylcystine Phase 2
28 Respiratory System Agents Phase 2
29 Antidotes Phase 2
30 cysteine Phase 2
31 Expectorants Phase 2
32 Antiviral Agents Phase 2
33 Bile Acids and Salts Phase 2
34
Vancomycin Approved Phase 1 1404-90-6 441141 14969
35 Anti-Bacterial Agents Phase 1
36
Propofol Approved, Investigational, Vet_approved 2078-54-8 4943
37
Zoledronic Acid Approved 118072-93-8 68740
38
Prednisolone phosphate Approved, Vet_approved 302-25-0
39
Methylprednisolone hemisuccinate Approved 2921-57-5
40
Methylprednisolone Approved, Vet_approved 83-43-2 6741
41
Prednisolone Approved, Vet_approved 50-24-8 5755
42
Sevoflurane Approved, Vet_approved 28523-86-6 5206
43
Magnesium Sulfate Approved, Investigational, Vet_approved 7487-88-9 24083
44
Desflurane Approved 57041-67-5 42113
45
Neomycin Approved, Vet_approved 1404-04-2 8378
46
Protein C Approved
47
Sargramostim Approved, Investigational Early Phase 1 83869-56-1, 123774-72-1
48
Lenograstim Approved, Investigational Early Phase 1 135968-09-1
49
Calcium Approved, Nutraceutical 7440-70-2 271
50
Serine Approved, Nutraceutical 56-45-1 5951

Interventional clinical trials:

(show all 37)
# Name Status NCT ID Phase Drugs
1 Clinical Study About the Role of COX-2 Inhibitor in Liver Cirrhosis With Biliary Atresia Completed NCT02298218 Phase 4 Meloxicam
2 Phase IIIb Study of Corticosteroids as Post-Operative Adjuvant Therapy in Biliary Atresia Unknown status NCT00539565 Phase 3 prednisolone;placebo
3 A Phase 1/2A Trial of Intravenous Immunoglobulin (IVIG) Therapy Following Portoenterostomy in Infants With Biliary Atresia Completed NCT01854827 Phase 1, Phase 2 Intravenous immunoglobulin (IVIG)
4 Outcomes of Autologous Bone Marrow Mononuclear Stem Cell (BMMC) Transplantation for Children Suffering From Liver Cirrhosis Due to Biliary Atresia After Kasai's Operation: An Open Label Uncontrolled Clinical Trial Recruiting NCT03468699 Phase 2
5 A Phase II Trial of Pentoxifylline in Newly-Diagnosed Biliary Atresia Recruiting NCT01774487 Phase 2 Pentoxifylline
6 A Phase 2 Trial of N-Acetylcysteine in Biliary Atresia After Kasai Portoenterostomy Recruiting NCT03499249 Phase 2 N-Acetyl cysteine
7 The Human Gastrointestinal Tract Microbiota in the Setting of Treating Primary Sclerosing Cholangitis and Biliary Atresia With Vancomycin. Completed NCT01322386 Phase 1 Vancomycin
8 The Human Gastrointestinal Tract Microbiota in the Setting of Treating Primary Sclerosing Cholangitis and Biliary Atresia With Vancomycin Recruiting NCT02137668 Phase 1 Oral Vancomycin
9 Randomised Control Trial to Investigate the Effectiveness of CoSeal® Surgical Sealant in Reducing Intra-abdominal Adhesions Following the Kasai Hepatoportoenterostomy for Biliary Atresia. Unknown status NCT01745991
10 Clinical and Basic Study for Pediatric Liver Transplantation Unknown status NCT02503384
11 Remote Ischemic Preconditioning Protects Against Hepatic Ischemic and Reperfusion Injury in Pediatric Living Donor Liver Transplantation Unknown status NCT02830841
12 The Effect of Sevoflurane or Propofol on Brain Injury and Neurocognitive in Pediatric Living Related Liver Transplantation Unknown status NCT03024840 Sevoflurane;Propofol
13 Molecular Genetic Study of Suspected Cases of Osteogenesis Imperfecta Attending Assiut University Children Hospital Unknown status NCT03169192 Zoledronic Acid
14 Comparison the Level of CTGF Protein and Related Cytokine in Pleural Effusion Among Tuberculous Pleurisy and Malignant Pleural Effusion Patients Unknown status NCT00313066
15 Prospective Trial on Survival With Own Liver After Conventional Versus Laparoscopic Kasai for Biliary Atresia Completed NCT01063699
16 the Correlation Between Hepatic Fibrotic Scores and ADC and Other Non-invasive Indicators in Patients With Biliary Atresia Completed NCT02848573
17 Biliary Atresia, Hepatic Buffer Response and Sevoflurane Completed NCT02471209 Sevoflurane
18 Study of Magnesium Sulfate in Children With Reduced Bone Density Secondary to Chronic Cholestatic Liver Disease Completed NCT00007033 magnesium gluconate;magnesium sulfate
19 A Randomized, Double-Blinded, Placebo-Controlled Trial of Corticosteroid Therapy Following Portoenterostomy in Infants With Biliary Atresia Completed NCT00294684 Corticosteroids;Placebo
20 The Comparison of Desflurane and Sevoflurane on Postoperative Recovery and Hepatic Function of Biliary Atresia Patients During Kasai Operation Completed NCT01443572 desflurane anesthetics;sevoflurane anesthetics
21 Use of Probiotics to Prevent Cholangitis in Children With Biliary Atresia Completed NCT00166868 Lactobacillus casei rhamnosus (Lcr35);Neomycin
22 Search for Maternal Microchimerism in Swollen Portal Lymph Nodes of Infants With Biliary Atresia. Completed NCT02292862
23 POLYGEN DEFI-ALPHA : Genetic Polymorphisms Study in Children With Alpha-1 Antitrypsin Deficiency, Included in the DEFI-ALPHA Cohort Completed NCT01862211
24 Development and Validation of a Screening Score for the Biliary Atresia in Infantile Cholestasis: A Prospective Study Recruiting NCT03842150
25 Ultrasound Shear Wave Elastography Evaluation of Suspected and Known Biliary Atresia Recruiting NCT02652533
26 Biliary Atresia Study in Infants and Children (BASIC) Recruiting NCT00345553
27 Effects of Intraoperative Normal Saline vs Lactated Ringer on Outcomes in Pediatric Liver Transplantation: A Double-blind Randomized Trial Recruiting NCT03563378 Lactated Ringer;Normal saline
28 Coordinating Center- Mapping Disease Pathways for Biliary Atresia Recruiting NCT03273049
29 Clinical Follow-up Study on Hepatitis B Virus Infection After Liver Transplantation in Children Recruiting NCT03865966
30 Childhood Liver Disease Research Network (ChiLDReN): A Prospective Database of Infants With Cholestasis Recruiting NCT00061828
31 Longitudinal Study of Mitochondrial Hepatopathies Recruiting NCT01148550
32 Increased Liver Stiffness: A Study of Acoustic Radiation Force Impulse (ARFI) Elastography Recruiting NCT03382119
33 Childhood Liver Disease Research Network (ChiLDReN): FibroScan™ in Pediatric Cholestatic Liver Disease Study Protocol Active, not recruiting NCT02922751
34 Granulocyte-Colony Stimulating Factor Adjunct Therapy for Biliary Atresia Active, not recruiting NCT03395028 Early Phase 1 Granulocyte Colony-Stimulating Factor
35 Dry Blood Spot Screening Test for Neonatal Cholestasis Patients Enrolling by invitation NCT03667534
36 Intestinal Microbiome Composition in Infants With Biliary Atresia Not yet recruiting NCT03890536
37 Dry Blood Spot Screening Test for Biliary Atresia and Other Cholestasis Diseases Not yet recruiting NCT03898765

Search NIH Clinical Center for Biliary Atresia, Extrahepatic

Genetic Tests for Biliary Atresia, Extrahepatic

Anatomical Context for Biliary Atresia, Extrahepatic

MalaCards organs/tissues related to Biliary Atresia, Extrahepatic:

41
Liver, Bone, Testes, Bone Marrow, Brain, Lymph Node, Thymus

Publications for Biliary Atresia, Extrahepatic

Articles related to Biliary Atresia, Extrahepatic:

(show top 50) (show all 168)
# Title Authors PMID Year
1
Extrahepatic biliary atresia and associated anomalies: etiologic heterogeneity suggested by distinctive patterns of associations. 38 8
8456846 1993
2
Idiopathic extrahepatic biliary atresia: recurrence in sibs in two families. 38 8
3232705 1988
3
Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q37.3. 8
20358598 2010
4
Epidemiological features of biliary atresia in Taiwan, a national study 1996-2003. 8
17725591 2008
5
Familial biliary atresia. 8
10406679 1999
6
Biliary atresia: pathogenesis and treatment. 8
9773428 1998
7
Discordance for biliary atresia in two sets of monozygotic twins. 8
2993572 1985
8
Biliary atresia in two sets of twins. 8
4040965 1985
9
Biliary atresia associated with prenatal infection by Listeria monocytogenes. 8
4625786 1972
10
FAMILIAL EXTRAHEPATIC BILIARY ATRESIA. 8
14244102 1964
11
Congenital biliary atresia; report of three cases; two occurring in one family. 8
14928160 1952
12
The significance of human jagged 1 mutations detected in severe cases of extrahepatic biliary atresia. 9 38
12297837 2002
13
DYSTROPHIC CALCIFICATION OF MAXILLARY SINUS IN PEDIATRIC PATIENTS WITH LIVER TRANSPLANTATION AND PIGMENTATION OF DENTAL ORGAN. 38
29166493 2018
14
Disturbance in Plasma Metabolic Profile in Different Types of Human Cytomegalovirus-Induced Liver Injury in Infants. 38
29146975 2017
15
Hepatic MDR3 expression impacts lipid homeostasis and susceptibility to inflammatory bile duct obstruction in neonates. 38
28355206 2017
16
The value of preoperative liver biopsy in the diagnosis of extrahepatic biliary atresia: A systematic review and meta-analysis. 38
26932252 2016
17
Diagnostic value of anti-smooth muscle antibodies and liver enzymes in differentiation of extrahepatic biliary atresia and idiopathic neonatal hepatitis. 38
27251654 2016
18
A study of associated congenital anomalies with biliary atresia. 38
26862288 2016
19
Etiologies of conjugated hyperbilirubinemia in infancy: a systematic review of 1692 subjects. 38
26589959 2015
20
Evaluation of blood levels of nitric oxide as a means of differentiation between neonatal hepatitis and extrahepatic biliary atresia: A pilot study. 38
26166985 2015
21
Diagnostic value of procalcitonin and apo-e in extrahepatic biliary atresia. 38
25793072 2014
22
Efficacy of the seven feature, fifteen point histological scoring system and CD56 in interpretation of liver biopsies in persistent neonatal cholestasis: a five-year study. 38
24943749 2014
23
Predictive value of hepatic ultrasound, liver biopsy, and duodenal tube test in the diagnosis of extrahepatic biliary atresia in Serbian infants. 38
25003677 2014
24
Rejection is less common in children undergoing liver transplantation for hepatoblastoma. 38
24341552 2014
25
Extrahepatic biliary atresia with choledochal cyst: Prenatal MRI predicted and post natally confirmed: A case report. 38
24347854 2013
26
Scottish outcomes for extra hepatic biliary atresia post-rationalisation of services. 38
23429893 2013
27
[Acute, severe liver insufficiency caused by extrahepatic biliary atresia in a newborn]. 38
23651786 2013
28
Extra hepatic biliary atresia associated with choledochal cyst: a diagnostic dilemma in neonatal obstructive jaundice. 38
26023431 2013
29
Extrahepatic biliary atresia: Correlation of histopathology and liver function tests with surgical outcomes. 38
23243365 2012
30
Subdural hemorrhage: A unique case involving secondary vitamin K deficiency bleeding due to biliary atresia. 38
22607980 2012
31
Medical management of chronic liver diseases (CLD) in children (part II): focus on the complications of CLD, and CLD that require special considerations. 38
21999650 2011
32
Spontaneously ruptured choledochal cyst: Rare diagnosis on hepatic scintigraphy. 38
23326070 2011
33
Role of abdominal sonography in the preoperative diagnosis of extrahepatic biliary atresia in infants younger than 90 days. 38
21427309 2011
34
Is there any association of extra hepatic biliary atresia with cytomegalovirus or other infections? 38
21465946 2011
35
Bone marrow mononuclear stem cell infusion improves biochemical parameters and scintigraphy in infants with biliary atresia. 38
20857300 2011
36
Surgical outcome in relation to duct size at the porta hepatis and the use of cholagogues in patients with biliary atresia. 38
21560523 2010
37
Liver transplantation for syndromic biliary atresia with a pedunculated accessory hepatic lobe. 38
19496982 2010
38
Influence of substrate complexity on the diastereoselective formation of spiroiminodihydantoin and guanidinohydantoin from chromate oxidation. 38
20014751 2010
39
A histopathological study of liver and biliary remnants with clinical outcome in cases of extrahepatic biliary atresia. 38
20090233 2010
40
Histologic features of the portal plate in extrahepatic biliary atresia and their impact on prognosis--a Danish study. 38
19573659 2009
41
The development of intrapulmonary arteriovenous shunts as a poor prognostic factor following surgery for biliary atresia. 38
19760999 2009
42
Selected summary. Extrahepatic biliary atresia (EHBA) is still a significant medical and economic burden to patients and families. 38
19172135 2009
43
Ultrasound findings in biliary atresia: the role of triangular cord sign. 38
19579927 2009
44
Biliary atresia: recent progress. 38
18496390 2008
45
Improvement in accuracy of gamma-glutamyl transferase for differential diagnosis of biliary atresia by correlation with age. 38
18773671 2008
46
Detection of Epstein Barr virus by chromogenic in situ hybridization in cases of extra-hepatic biliary atresia. 38
18442403 2008
47
CD 56 staining in liver biopsies does not help in differentiating extrahepatic biliary atresia from other causes of neonatal cholestasis. 38
18321379 2008
48
Spiroiminodihydantoin as an oxo-atom transfer product of 8-oxo-2'-deoxyguanosine oxidation by chromium(V). 38
17915881 2007
49
Interlobular bile duct loss in pediatric cholestatic disease is associated with aberrant cytokeratin 7 expression by hepatocytes. 38
17929991 2007
50
Stem cells as a therapeutic modality in pediatric malformations. 38
17445576 2007

Variations for Biliary Atresia, Extrahepatic

Expression for Biliary Atresia, Extrahepatic

Search GEO for disease gene expression data for Biliary Atresia, Extrahepatic.

Pathways for Biliary Atresia, Extrahepatic

GO Terms for Biliary Atresia, Extrahepatic

Sources for Biliary Atresia, Extrahepatic

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