EHBA
MCID: BLR028
MIFTS: 33

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 58 77 56
Isolated Atresia of Bile Ducts 60
Non-Syndromic Biliary Atresia 60
Isolated Biliary Atresia 60
Biliary Atresia 74
Ehba 58

Characteristics:

Orphanet epidemiological data:

60
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:

58
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:

33
biliary atresia, extrahepatic:
Onset and clinical course infantile onset progressive


Classifications:



External Ids:

OMIM 58 210500
MESH via Orphanet 46 D001656
ICD10 via Orphanet 35 Q44.2
UMLS via Orphanet 75 C0005411
Orphanet 60 ORPHA30391
MedGen 43 C4520983
UMLS 74 C0005411

Summaries for Biliary Atresia, Extrahepatic

OMIM : 58 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 portal hypertension, and has symptoms including icterus An important gene associated with Biliary Atresia, Extrahepatic is GPC1 (Glypican 1). The drugs Meloxicam and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and testes, and related phenotypes are hepatomegaly and elevated hepatic transaminase

Wikipedia : 77 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:

# Related Disease Score Top Affiliating Genes
1 biliary atresia 10.7
2 portal hypertension 10.1
3 hepatitis 10.1
4 cholestasis 9.6 GGT1 JAG1
5 intrahepatic cholestasis of pregnancy 9.5 GGT1 JAG1

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:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 hepatomegaly 33 HP:0002240
2 elevated hepatic transaminase 33 HP:0002910
3 cirrhosis 33 HP:0001394
4 jaundice 33 HP:0000952
5 unconjugated hyperbilirubinemia 33 HP:0008282
6 acholic stools 33 HP:0011985
7 increased total bilirubin 33 HP:0003573
8 extrahepatic biliary duct atresia 33 HP:0005242
9 portal fibrosis 33 HP:0006580
10 bile duct proliferation 33 HP:0001408
11 atretic gallbladder 33 HP:0011984

Symptoms via clinical synopsis from OMIM:

58
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:
biliary atresia, extrahepatic
fibrotic extrahepatic bile ducts
atretic gallbladder

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 54677470 5281106
2 Liver Extracts Phase 4,Phase 2,Not Applicable
3 Anti-Inflammatory Agents Phase 4,Phase 3,Not Applicable
4 Anti-Inflammatory Agents, Non-Steroidal Phase 4
5 Cyclooxygenase Inhibitors Phase 4
6 Peripheral Nervous System Agents Phase 4,Not Applicable
7 Antirheumatic Agents Phase 4
8 Analgesics Phase 4,Not Applicable
9 Cyclooxygenase 2 Inhibitors Phase 4
10 Analgesics, Non-Narcotic Phase 4
11
Prednisolone phosphate Approved, Vet_approved Phase 3,Not Applicable 302-25-0
12
Methylprednisolone hemisuccinate Approved Phase 3,Not Applicable 2921-57-5
13
Prednisolone Approved, Vet_approved Phase 3,Not Applicable 50-24-8 5755
14
Methylprednisolone Approved, Vet_approved Phase 3,Not Applicable 83-43-2 6741
15
Prednisolone hemisuccinate Experimental Phase 3,Not Applicable 2920-86-7
16 Antineoplastic Agents, Hormonal Phase 3,Not Applicable
17 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Not Applicable
18 Prednisolone acetate Phase 3,Not Applicable
19 glucocorticoids Phase 3,Not Applicable
20 Methylprednisolone Acetate Phase 3,Not Applicable
21 Hormones Phase 3,Not Applicable
22 Hormone Antagonists Phase 3,Not Applicable
23
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
24
Pentoxifylline Approved, Investigational Phase 2 6493-05-6 4740
25 Immunologic Factors Phase 1, Phase 2,Early Phase 1
26 Immunoglobulins Phase 1, Phase 2
27 Rho(D) Immune Globulin Phase 1, Phase 2
28 Antibodies Phase 1, Phase 2
29 Immunoglobulins, Intravenous Phase 1, Phase 2
30 gamma-Globulins Phase 1, Phase 2
31 Anti-Infective Agents Phase 2,Phase 1,Not Applicable
32
Bilirubin Phase 2,Not Applicable 635-65-4, 69853-43-6 21252250 5280352
33 Protective Agents Phase 2,Not Applicable
34 Platelet Aggregation Inhibitors Phase 2,Not Applicable
35 Expectorants Phase 2
36 N-monoacetylcystine Phase 2
37 Pharmaceutical Solutions Phase 2,Not Applicable
38 Antidotes Phase 2
39 Bile Acids and Salts Phase 2
40 Antiviral Agents Phase 2
41 Respiratory System Agents Phase 2
42 cysteine Phase 2
43 Antioxidants Phase 2
44 Free Radical Scavengers Phase 2
45 Phosphodiesterase Inhibitors Phase 2
46 Radiation-Protective Agents Phase 2
47 Vasodilator Agents Phase 2
48
Vancomycin Approved Phase 1 1404-90-6 14969 441141
49 Anti-Bacterial Agents Phase 1,Not Applicable
50
Neomycin Approved, Vet_approved Not Applicable 1404-04-2 8378

Interventional clinical trials:

(show all 36)
# 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 RCT of Steroids Following Kasai Portoenterostomy for Biliary Atresia. Unknown status NCT00539565 Phase 3 prednisolone;placebo
3 Safety Study of Intravenous Immunoglobulin (IVIG) Post-Portoenterostomy in Infants With Biliary Atresia Completed NCT01854827 Phase 1, Phase 2 Intravenous immunoglobulin (IVIG)
4 N-Acetylcysteine in Biliary Atresia After Kasai Portoenterostomy Recruiting NCT03499249 Phase 2 N-Acetyl cysteine
5 Pentoxifylline Therapy in Biliary Atresia Recruiting NCT01774487 Phase 2 Pentoxifylline
6 Autologous Bone Marrow Mononuclear Stem Cell for Children Suffering From Liver Cirrhosis Due to Biliary Atresia Recruiting NCT03468699 Phase 2
7 Gastrointestinal Microbiota in Primary Sclerosing Cholangitis and Biliary Atresia With Vancomycin Completed NCT01322386 Phase 1 Vancomycin
8 Treating Primary Sclerosing Cholangitis and Biliary Atresia With Vancomycin Recruiting NCT02137668 Phase 1 Oral Vancomycin
9 Trail to Investigate the Effectiveness of CoSeal in Reducing Adhesions Following the Kasai Hepatoportoenterostomy for Biliary Atresia Unknown status NCT01745991
10 Evaluation of Immune Function in Biliary Atresia Children With Prolonged Jaundice Unknown status NCT00155194
11 Clinical and Basic Study for Pediatric Liver Transplantation Unknown status NCT02503384
12 Survival With Own Liver of Conventional Versus Laparoscopic Kasai for Biliary Atresia Completed NCT01063699 Not Applicable
13 Use of Probiotics to Prevent Cholangitis in Children With Biliary Atresia After the Kasai Portoenterostomy Completed NCT00166868 Not Applicable Lactobacillus casei rhamnosus (Lcr35);Neomycin
14 Biliary Atresia, Hepatic Buffer Response and Sevoflurane Completed NCT02471209 Sevoflurane
15 Maternal Microchimerism in Lymph Nodes of Infants With Biliary Atresia at Time of Kasai's Operation Completed NCT02292862
16 A Randomized, Double-Blinded, Placebo-Controlled Trial of Corticosteroid Therapy Following Portoenterostomy Completed NCT00294684 Not Applicable Corticosteroids;Placebo
17 The Comparison of Desflurane and Sevoflurane on Postoperative Recovery and Hepatic Function of Biliary Atresia Patients During Kasai Operation Completed NCT01443572 Not Applicable desflurane anesthetics;sevoflurane anesthetics
18 the Correlation Between Non-invasive Indicators in Patients With Biliary Atresia Completed NCT02848573
19 Study of Magnesium Sulfate in Children With Reduced Bone Density Secondary to Chronic Cholestatic Liver Disease Completed NCT00007033 Not Applicable magnesium gluconate;magnesium sulfate
20 Polygen Defi-Alpha: Genetic Polymorphisms Study in Children With Alpha-1 Antitrypsin Deficiency, Included in the DEFI-ALPHA Cohort Completed NCT01862211 Not Applicable
21 HEMOCC Study. Hemostasis in Cirrhotic Children. Completed NCT03244332 Not Applicable
22 Shear Wave Sonoelastography in Pediatric Liver Fibrosis Completed NCT02372682
23 Development and Validation of a Screening Score for the Biliary Atresia in Infantile Cholestasis: A Prospective Study Recruiting NCT03842150
24 Ultrasound Shear Wave Elastography Evaluation of Suspected and Known Biliary Atresia Recruiting NCT02652533
25 Biliary Atresia Study in Infants and Children Recruiting NCT00345553
26 Mapping Disease Pathways for Biliary Atresia Recruiting NCT03273049
27 A Prospective Database of Infants With Cholestasis Recruiting NCT00061828
28 Effects of Intraoperative Normal Saline vs Lactated Ringer on Outcomes in Pediatric Liver Transplantation Recruiting NCT03563378 Not Applicable Lactated Ringer;Normal saline
29 Hepatitis B Virus Infection After Liver Transplantation in Children Recruiting NCT03865966
30 Increased Liver Stiffness: A Study of Acoustic Radiation Force Impulse (ARFI) Elastography Recruiting NCT03382119 Not Applicable
31 Evaluating the Genetic Causes and Progression of Cholestatic Liver Diseases (LOGIC) Recruiting NCT00571272
32 GCSF Adjunct Therapy for Biliary Atresia Enrolling by invitation NCT03395028 Early Phase 1 Granulocyte Colony-Stimulating Factor
33 Dry Blood Spot Screening Test for Neonatal Cholestasis Patients Enrolling by invitation NCT03667534
34 FibroScan™ in Pediatric Cholestatic Liver Disease (FORCE) Enrolling by invitation NCT02922751
35 Intestinal Microbiome Composition in Infants With Biliary Atresia (BA) Not yet recruiting NCT03890536
36 Dry Blood Spot Screening Test for Biliary Atresia(DBS-SCReBA) Not yet recruiting NCT03898765 Not Applicable

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:

42
Liver, Bone, Testes, Lymph Node, Bone Marrow

Publications for Biliary Atresia, Extrahepatic

Articles related to Biliary Atresia, Extrahepatic:

# Title Authors Year
1
Selected summary. Extrahepatic biliary atresia (EHBA) is still a significant medical and economic burden to patients and families. ( 19172135 )
2009
2
Pathogenesis of extrahepatic bile duct atresia (EHBA): comprehension from a surgical point of view. ( 16163590 )
2005
3
Recurrent intestinal bleeding from jejunojejunostomy caused by portal hypertension following hepatoportojejunostomy in extra hepatic biliary atresia (EHBA)--successful treatment by transjugular intrahepatic portosystemic shunt (TIPS). ( 9241499 )
1997
4
TIPS: a new therapy for esophageal variceal bleeding caused by EHBA. ( 7577858 )
1995
5
Biliary atresia: extrahepatic? Intrahepatic? Both? Neither? ( 2038544 )
1991

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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