EHBA
MCID: BLR028
MIFTS: 32

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 76 55
Isolated Atresia of Bile Ducts 59
Non-Syndromic Biliary Atresia 59
Isolated Biliary Atresia 59
Biliary Atresia 73
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
Orphanet 59 ORPHA30391
ICD10 via Orphanet 34 Q44.2
MESH via Orphanet 45 D001656
UMLS via Orphanet 74 C0005411
MedGen 42 C4520983
UMLS 73 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 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 brain, and related phenotypes are hepatomegaly and cirrhosis

Wikipedia : 76 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 10.4
2 cholestasis 9.8 GGT1 JAG1
3 intrahepatic cholestasis of pregnancy 9.7 GGT1 JAG1

Symptoms & Phenotypes for Biliary Atresia, Extrahepatic

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:
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

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 jaundice 32 HP:0000952
4 unconjugated hyperbilirubinemia 32 HP:0008282
5 acholic stools 32 HP:0011985
6 extrahepatic biliary duct atresia 32 HP:0005242
7 increased total bilirubin 32 HP:0003573
8 bile duct proliferation 32 HP:0001408
9 atretic gallbladder 32 HP:0011984
10 portal fibrosis 32 HP:0006580
11 elevated hepatic transaminase 32 HP:0002910

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 84)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Meloxicam Approved, Vet_approved Phase 4 71125-38-7 54677470 5281106
2 Anti-Inflammatory Agents Phase 4,Phase 3,Not Applicable
3 Liver Extracts Phase 4,Phase 2,Not Applicable
4 Analgesics Phase 4,Not Applicable
5 Cyclooxygenase 2 Inhibitors Phase 4
6 Analgesics, Non-Narcotic Phase 4
7 Anti-Inflammatory Agents, Non-Steroidal Phase 4
8 Antirheumatic Agents Phase 4
9 Cyclooxygenase Inhibitors Phase 4
10 Peripheral Nervous System Agents Phase 4,Not Applicable
11
Prednisolone Approved, Vet_approved Phase 3,Not Applicable 50-24-8 5755
12
Prednisolone phosphate Approved, Vet_approved Phase 3,Not Applicable 302-25-0
13
Methylprednisolone Approved, Vet_approved Phase 3,Not Applicable 83-43-2 6741
14
Methylprednisolone hemisuccinate Approved Phase 3,Not Applicable 2921-57-5
15
Prednisolone hemisuccinate Experimental Phase 3,Not Applicable 2920-86-7
16 Methylprednisolone acetate Phase 3,Not Applicable
17 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Not Applicable
18 Prednisolone acetate Phase 3,Not Applicable
19 Hormone Antagonists Phase 3,Not Applicable
20 Hormones Phase 3,Not Applicable
21 glucocorticoids Phase 3,Not Applicable
22 Antineoplastic Agents, Hormonal 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 gamma-Globulins Phase 1, Phase 2
26 Immunoglobulins, Intravenous Phase 1, Phase 2
27 Immunoglobulins Phase 1, Phase 2
28 Rho(D) Immune Globulin Phase 1, Phase 2
29 Immunologic Factors Phase 1, Phase 2,Early Phase 1
30 Antibodies Phase 1, Phase 2
31 Anti-Infective Agents Phase 2,Phase 1,Not Applicable
32
Bilirubin Phase 2,Not Applicable 635-65-4 5280352
33 Protective Agents Phase 2,Not Applicable
34 Platelet Aggregation Inhibitors Phase 2,Not Applicable
35 Antidotes Phase 2
36 Antiviral Agents Phase 2
37 Antioxidants Phase 2
38 Expectorants Phase 2
39 Pharmaceutical Solutions Phase 2,Not Applicable
40 Respiratory System Agents Phase 2
41 N-monoacetylcystine Phase 2
42 Bile Acids and Salts Phase 2
43 cysteine Phase 2
44 Free Radical Scavengers Phase 2
45 Vasodilator Agents Phase 2
46 Phosphodiesterase Inhibitors Phase 2
47 Radiation-Protective 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 32)
# 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 Ultrasound Shear Wave Elastography Evaluation of Suspected and Known Biliary Atresia Recruiting NCT02652533
24 Biliary Atresia Study in Infants and Children Recruiting NCT00345553
25 Mapping Disease Pathways for Biliary Atresia Recruiting NCT03273049
26 PROBE: A Prospective Database of Infants With Cholestasis Recruiting NCT00061828
27 Effects of Intraoperative Normal Saline vs Lactated Ringer on Outcomes in Pediatric Liver Transplantation Recruiting NCT03563378 Not Applicable Lactated Ringer;Normal saline
28 Evaluating the Genetic Causes and Progression of Cholestatic Liver Diseases (LOGIC) Recruiting NCT00571272
29 GCSF Adjunct Therapy for Biliary Atresia Enrolling by invitation NCT03395028 Early Phase 1 Granulocyte Colony-Stimulating Factor
30 Dry Blood Spot Screening Test for Neonatal Cholestasis Patients Enrolling by invitation NCT03667534
31 FibroScan™ in Pediatric Cholestatic Liver Disease Study Protocol Enrolling by invitation NCT02922751
32 Increased Liver Stiffness: A Study of Acoustic Radiation Force Impulse (ARFI) Elastography Not yet recruiting NCT03382119 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:

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

Publications for Biliary Atresia, Extrahepatic

Articles related to Biliary Atresia, Extrahepatic:

# Title Authors Year
1
Cholangiocyte cilia are abnormal in syndromic and non-syndromic biliary atresia. ( 22301700 )
2012

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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