EHBA
MCID: BLR028
MIFTS: 37

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 56 74 54
Isolated Atresia of Bile Ducts 58
Non-Syndromic Biliary Atresia 58
Isolated Biliary Atresia 58
Biliary Atresia 71
Ehba 56

Characteristics:

Orphanet epidemiological data:

58
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:

56
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:

31
biliary atresia, extrahepatic:
Onset and clinical course infantile onset progressive


Classifications:

Orphanet: 58  
Rare hepatic diseases
Developmental anomalies during embryogenesis


Summaries for Biliary Atresia, Extrahepatic

OMIM : 56 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 biliary atresia and cholestasis, 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 decreased liver function

Wikipedia : 74 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 biliary atresia 30.4 JAG1 GGT1
2 cholestasis 29.3 JAG1 GGT1
3 cholangitis, primary sclerosing 28.9 JAG1 GGT1
4 varicose veins 10.2
5 portal hypertension 10.2
6 esophageal varix 10.2
7 hypersplenism 10.2
8 bilirubin metabolic disorder 10.1
9 cholangitis 10.1
10 sclerosing cholangitis 10.0
11 syndromic biliary atresia 10.0
12 cholestasis, intrahepatic, of pregnancy, 1 9.5 JAG1 GGT1
13 cholestasis, progressive familial intrahepatic, 1 9.4 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:

58 31 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
2 decreased liver function 58 31 frequent (33%) Frequent (79-30%) HP:0001410
3 elevated hepatic transaminase 58 31 frequent (33%) Frequent (79-30%) HP:0002910
4 severe failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001525
5 prolonged neonatal jaundice 58 31 frequent (33%) Frequent (79-30%) HP:0006579
6 conjugated hyperbilirubinemia 58 31 frequent (33%) Frequent (79-30%) HP:0002908
7 acholic stools 58 31 frequent (33%) Frequent (79-30%) HP:0011985
8 prolonged prothrombin time 58 31 frequent (33%) Frequent (79-30%) HP:0008151
9 elevated alkaline phosphatase 58 31 frequent (33%) Frequent (79-30%) HP:0003155
10 fat malabsorption 58 31 frequent (33%) Frequent (79-30%) HP:0002630
11 elevated gamma-glutamyltransferase activity 58 31 frequent (33%) Frequent (79-30%) HP:0030948
12 atretic gallbladder 58 31 frequent (33%) Frequent (79-30%) HP:0011984
13 dark yellow urine 58 31 frequent (33%) Frequent (79-30%) HP:0040321
14 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
15 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
16 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
17 abnormal facial shape 58 31 occasional (7.5%) Occasional (29-5%) HP:0001999
18 pruritus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000989
19 cirrhosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001394
20 ophthalmoplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000602
21 small for gestational age 58 31 occasional (7.5%) Occasional (29-5%) HP:0001518
22 hypopituitarism 58 31 occasional (7.5%) Occasional (29-5%) HP:0040075
23 periportal fibrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001405
24 bile duct proliferation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001408
25 xanthelasma 58 31 very rare (1%) Very rare (<4-1%) HP:0001114
26 jaundice 58 31 Very frequent (99-80%) HP:0000952
27 failure to thrive 58 Very frequent (99-80%)
28 cholestasis 58 Very frequent (99-80%)
29 unconjugated hyperbilirubinemia 31 HP:0008282
30 increased total bilirubin 31 HP:0003573
31 extrahepatic biliary duct atresia 31 HP:0005242
32 portal fibrosis 31 HP:0006580

Symptoms via clinical synopsis from OMIM:

56
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 83)
# 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 Anti-Inflammatory Agents, Non-Steroidal Phase 4
5 Analgesics, Non-Narcotic Phase 4
6 Cyclooxygenase Inhibitors Phase 4
7 Cyclooxygenase 2 Inhibitors Phase 4
8 Antirheumatic Agents Phase 4
9
Pentoxifylline Approved, Investigational Phase 2 6493-05-6 4740
10
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
11
Cysteine Approved, Nutraceutical Phase 2 52-90-4 5862
12 Vasodilator Agents Phase 2
13 Phosphodiesterase Inhibitors Phase 2
14 Radiation-Protective Agents Phase 2
15 Rho(D) Immune Globulin Phase 1, Phase 2
16 Immunoglobulins Phase 1, Phase 2
17 Immunoglobulins, Intravenous Phase 1, Phase 2
18 Antibodies Phase 1, Phase 2
19 gamma-Globulins Phase 1, Phase 2
20
Bilirubin Phase 2 635-65-4, 69853-43-6 5280352 21252250
21 Free Radical Scavengers Phase 2
22 Antioxidants Phase 2
23 Pharmaceutical Solutions Phase 2
24 Protective Agents Phase 2
25 Anti-Infective Agents Phase 2
26 Respiratory System Agents Phase 2
27 N-monoacetylcystine Phase 2
28 Antiviral Agents Phase 2
29 Bile Acids and Salts Phase 2
30 Antidotes Phase 2
31 Expectorants Phase 2
32
Vancomycin Approved Phase 1 1404-90-6 441141 14969
33 Anti-Bacterial Agents Phase 1
34
Propofol Approved, Investigational, Vet_approved 2078-54-8 4943
35
Zoledronic Acid Approved 118072-93-8 68740
36
Methylprednisolone hemisuccinate Approved 2921-57-5
37
Prednisolone Approved, Vet_approved 50-24-8 5755
38
Methylprednisolone Approved, Vet_approved 83-43-2 6741
39
Prednisolone phosphate Approved, Vet_approved 302-25-0
40 Prednisolone acetate Approved, Vet_approved 52-21-1
41
Sevoflurane Approved, Vet_approved 28523-86-6 5206
42
Magnesium Sulfate Approved, Investigational, Vet_approved 7487-88-9 24083
43
Desflurane Approved 57041-67-5 42113
44
Neomycin Approved, Vet_approved 1404-04-2 8378
45
Protein C Approved
46
Sargramostim Approved, Investigational Early Phase 1 123774-72-1, 83869-56-1
47
Lenograstim Approved, Investigational Early Phase 1 135968-09-1
48
Calcium Approved, Nutraceutical 7440-70-2 271
49
Prednisolone hemisuccinate Experimental 2920-86-7
50 Hypnotics and Sedatives

Interventional clinical trials:

(show all 38)
# 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 II Trial of Pentoxifylline in Newly-Diagnosed Biliary Atresia Unknown status NCT01774487 Phase 2 Pentoxifylline
4 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)
5 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
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 Impaired T-Lymphocyte Proliferative Function in Biliary Atresia Children With Prolonged Jaundice Unknown status NCT00155194
10 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
11 Clinical and Basic Study for Pediatric Liver Transplantation Unknown status NCT02503384
12 Remote Ischemic Preconditioning Protects Against Hepatic Ischemic and Reperfusion Injury in Pediatric Living Donor Liver Transplantation Unknown status NCT02830841
13 The Effect of Sevoflurane or Propofol on Brain Injury and Neurocognitive in Pediatric Living Related Liver Transplantation Unknown status NCT03024840 Sevoflurane;Propofol
14 Molecular Genetic Study of Suspected Cases of Osteogenesis Imperfecta Attending Assiut University Children Hospital Unknown status NCT03169192 Zoledronic Acid
15 Comparison the Level of CTGF Protein and Related Cytokine in Pleural Effusion Among Tuberculous Pleurisy and Malignant Pleural Effusion Patients Unknown status NCT00313066
16 Prospective Trial on Survival With Own Liver After Conventional Versus Laparoscopic Kasai for Biliary Atresia Completed NCT01063699
17 the Correlation Between Hepatic Fibrotic Scores and ADC and Other Non-invasive Indicators in Patients With Biliary Atresia Completed NCT02848573
18 Biliary Atresia, Hepatic Buffer Response and Sevoflurane Completed NCT02471209 Sevoflurane
19 Study of Magnesium Sulfate in Children With Reduced Bone Density Secondary to Chronic Cholestatic Liver Disease Completed NCT00007033 magnesium gluconate;magnesium sulfate
20 Ultrasound Shear Wave Elastography Evaluation of Suspected and Known Biliary Atresia Completed NCT02652533
21 A Randomized, Double-Blinded, Placebo-Controlled Trial of Corticosteroid Therapy Following Portoenterostomy in Infants With Biliary Atresia Completed NCT00294684 Corticosteroids;Placebo
22 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
23 Use of Probiotics to Prevent Cholangitis in Children With Biliary Atresia Completed NCT00166868 Lactobacillus casei rhamnosus (Lcr35);Neomycin
24 Search for Maternal Microchimerism in Swollen Portal Lymph Nodes of Infants With Biliary Atresia. Completed NCT02292862
25 POLYGEN DEFI-ALPHA : Genetic Polymorphisms Study in Children With Alpha-1 Antitrypsin Deficiency, Included in the DEFI-ALPHA Cohort Completed NCT01862211
26 Development and Validation of a Screening Score for the Biliary Atresia in Infantile Cholestasis: A Prospective Study Recruiting NCT03842150
27 Biliary Atresia Study in Infants and Children (BASIC) Recruiting NCT00345553
28 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
29 Coordinating Center- Mapping Disease Pathways for Biliary Atresia Recruiting NCT03273049
30 Childhood Liver Disease Research Network (ChiLDReN): A Prospective Database of Infants With Cholestasis Recruiting NCT00061828
31 Clinical Follow-up Study on Hepatitis B Virus Infection After Liver Transplantation in Children Recruiting NCT03865966
32 Longitudinal Study of Mitochondrial Hepatopathies Recruiting NCT01148550
33 Increased Liver Stiffness: A Study of Acoustic Radiation Force Impulse (ARFI) Elastography Recruiting NCT03382119
34 Childhood Liver Disease Research Network (ChiLDReN): FibroScan™ in Pediatric Cholestatic Liver Disease Study Protocol Active, not recruiting NCT02922751
35 Granulocyte-Colony Stimulating Factor Adjunct Therapy for Biliary Atresia Active, not recruiting NCT03395028 Early Phase 1 Granulocyte Colony-Stimulating Factor
36 Dry Blood Spot Screening Test for Neonatal Cholestasis Patients Enrolling by invitation NCT03667534
37 Intestinal Microbiome Composition in Infants With Biliary Atresia Not yet recruiting NCT03890536
38 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:

40
Liver, Bone, Testes, Bone Marrow, Lymph Node, Brain, Thymus

Publications for Biliary Atresia, Extrahepatic

Articles related to Biliary Atresia, Extrahepatic:

(show top 50) (show all 169)
# Title Authors PMID Year
1
Extrahepatic biliary atresia and associated anomalies: etiologic heterogeneity suggested by distinctive patterns of associations. 61 56
8456846 1993
2
Idiopathic extrahepatic biliary atresia: recurrence in sibs in two families. 61 56
3232705 1988
3
Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q37.3. 56
20358598 2010
4
Epidemiological features of biliary atresia in Taiwan, a national study 1996-2003. 56
17725591 2008
5
Familial biliary atresia. 56
10406679 1999
6
Biliary atresia: pathogenesis and treatment. 56
9773428 1998
7
Discordance for biliary atresia in two sets of monozygotic twins. 56
2993572 1985
8
Biliary atresia in two sets of twins. 56
4040965 1985
9
Biliary atresia associated with prenatal infection by Listeria monocytogenes. 56
4625786 1972
10
FAMILIAL EXTRAHEPATIC BILIARY ATRESIA. 56
14244102 1964
11
Congenital biliary atresia; report of three cases; two occurring in one family. 56
14928160 1952
12
The significance of human jagged 1 mutations detected in severe cases of extrahepatic biliary atresia. 54 61
12297837 2002
13
Cholestasis In Infants With Down Syndrome Is Not Due To Extrahepatic Biliary Atresia: A Ten-Year Single Egyptian Centre Experience. 61
31695469 2019
14
DYSTROPHIC CALCIFICATION OF MAXILLARY SINUS IN PEDIATRIC PATIENTS WITH LIVER TRANSPLANTATION AND PIGMENTATION OF DENTAL ORGAN. 61
29166493 2018
15
Disturbance in Plasma Metabolic Profile in Different Types of Human Cytomegalovirus-Induced Liver Injury in Infants. 61
29146975 2017
16
Hepatic MDR3 expression impacts lipid homeostasis and susceptibility to inflammatory bile duct obstruction in neonates. 61
28355206 2017
17
The value of preoperative liver biopsy in the diagnosis of extrahepatic biliary atresia: A systematic review and meta-analysis. 61
26932252 2016
18
Diagnostic value of anti-smooth muscle antibodies and liver enzymes in differentiation of extrahepatic biliary atresia and idiopathic neonatal hepatitis. 61
27251654 2016
19
A study of associated congenital anomalies with biliary atresia. 61
26862288 2016
20
Etiologies of conjugated hyperbilirubinemia in infancy: a systematic review of 1692 subjects. 61
26589959 2015
21
Evaluation of blood levels of nitric oxide as a means of differentiation between neonatal hepatitis and extrahepatic biliary atresia: A pilot study. 61
26166985 2015
22
Diagnostic value of procalcitonin and apo-e in extrahepatic biliary atresia. 61
25793072 2014
23
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. 61
24943749 2014
24
Predictive value of hepatic ultrasound, liver biopsy, and duodenal tube test in the diagnosis of extrahepatic biliary atresia in Serbian infants. 61
25003677 2014
25
Rejection is less common in children undergoing liver transplantation for hepatoblastoma. 61
24341552 2014
26
Extrahepatic biliary atresia with choledochal cyst: Prenatal MRI predicted and post natally confirmed: A case report. 61
24347854 2013
27
Scottish outcomes for extra hepatic biliary atresia post-rationalisation of services. 61
23429893 2013
28
[Acute, severe liver insufficiency caused by extrahepatic biliary atresia in a newborn]. 61
23651786 2013
29
Extra hepatic biliary atresia associated with choledochal cyst: a diagnostic dilemma in neonatal obstructive jaundice. 61
26023431 2013
30
Extrahepatic biliary atresia: Correlation of histopathology and liver function tests with surgical outcomes. 61
23243365 2012
31
Subdural hemorrhage: A unique case involving secondary vitamin K deficiency bleeding due to biliary atresia. 61
22607980 2012
32
Medical management of chronic liver diseases (CLD) in children (part II): focus on the complications of CLD, and CLD that require special considerations. 61
21999650 2011
33
Spontaneously ruptured choledochal cyst: Rare diagnosis on hepatic scintigraphy. 61
23326070 2011
34
Role of abdominal sonography in the preoperative diagnosis of extrahepatic biliary atresia in infants younger than 90 days. 61
21427309 2011
35
Is there any association of extra hepatic biliary atresia with cytomegalovirus or other infections? 61
21465946 2011
36
Bone marrow mononuclear stem cell infusion improves biochemical parameters and scintigraphy in infants with biliary atresia. 61
20857300 2011
37
Surgical outcome in relation to duct size at the porta hepatis and the use of cholagogues in patients with biliary atresia. 61
21560523 2010
38
Liver transplantation for syndromic biliary atresia with a pedunculated accessory hepatic lobe. 61
19496982 2010
39
Influence of substrate complexity on the diastereoselective formation of spiroiminodihydantoin and guanidinohydantoin from chromate oxidation. 61
20014751 2010
40
A histopathological study of liver and biliary remnants with clinical outcome in cases of extrahepatic biliary atresia. 61
20090233 2010
41
Histologic features of the portal plate in extrahepatic biliary atresia and their impact on prognosis--a Danish study. 61
19573659 2009
42
The development of intrapulmonary arteriovenous shunts as a poor prognostic factor following surgery for biliary atresia. 61
19760999 2009
43
Selected summary. Extrahepatic biliary atresia (EHBA) is still a significant medical and economic burden to patients and families. 61
19172135 2009
44
Ultrasound findings in biliary atresia: the role of triangular cord sign. 61
19579927 2009
45
Biliary atresia: recent progress. 61
18496390 2008
46
Improvement in accuracy of gamma-glutamyl transferase for differential diagnosis of biliary atresia by correlation with age. 61
18773671 2008
47
Detection of Epstein Barr virus by chromogenic in situ hybridization in cases of extra-hepatic biliary atresia. 61
18442403 2008
48
CD 56 staining in liver biopsies does not help in differentiating extrahepatic biliary atresia from other causes of neonatal cholestasis. 61
18321379 2008
49
Spiroiminodihydantoin as an oxo-atom transfer product of 8-oxo-2'-deoxyguanosine oxidation by chromium(V). 61
17915881 2007
50
Interlobular bile duct loss in pediatric cholestatic disease is associated with aberrant cytokeratin 7 expression by hepatocytes. 61
17929991 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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