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Biliary atresia

MedGen UID:
14117
Concept ID:
C0005411
Congenital Abnormality
Synonyms: Atresia, Biliary; Biliary Atresia
SNOMED CT: Congenital biliary atresia (77480004); Biliary atresia (77480004); Atresia of bile ducts (77480004); BA - Biliary atresia (77480004)
Modes of inheritance:
Multifactorial inheritance
MedGen UID:
109109
Concept ID:
C0600599
Genetic Function
Source: Orphanet
A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases.
 
HPO: HP:0005912
Monarch Initiative: MONDO:0008867
Orphanet: ORPHA30391

Definition

Atresia of the biliary tree. [from HPO]

Conditions with this feature

Cat eye syndrome
MedGen UID:
120543
Concept ID:
C0265493
Disease or Syndrome
Cat eye syndrome (CES) is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development. A small supernumerary chromosome (smaller than chromosome 21) is present, frequently has 2 centromeres, is bisatellited, and represents an inv dup(22)(q11).
Heterotaxy, visceral, 1, X-linked
MedGen UID:
336609
Concept ID:
C1844020
Disease or Syndrome
Heterotaxy Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder. Multiple Types of Congenital Heart Defects Congenital heart defects (CHTD) are among the most common congenital defects, occurring with an incidence of 8/1,000 live births. The etiology of CHTD is complex, with contributions from environmental exposure, chromosomal abnormalities, and gene defects. Some patients with CHTD also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions (summary by van de Meerakker et al., 2011). Reviews Obler et al. (2008) reviewed published cases of double-outlet right ventricle and discussed etiology and associations. Genetic Heterogeneity of Visceral Heterotaxy See also HTX2 (605376), caused by mutation in the CFC1 gene (605194) on chromosome 2q21; HTX3 (606325), which maps to chromosome 6q21; HTX4 (613751), caused by mutation in the ACVR2B gene (602730) on chromosome 3p22; HTX5 (270100), caused by mutation in the NODAL gene (601265) on chromosome 10q22; HTX6 (614779), caused by mutation in the CCDC11 gene (614759) on chromosome 18q21; HTX7 (616749), caused by mutation in the MMP21 gene (608416) on chromosome 10q26; HTX8 (617205), caused by mutation in the PKD1L1 gene (609721) on chromosome 7p12; HTX9 (618948), caused by mutation in the MNS1 gene (610766) on chromosome 15q21; HTX10 (619607), caused by mutation in the CFAP52 gene (609804) on chromosome 17p13; HTX11 (619608), caused by mutation in the CFAP45 gene (605152) on chromosome 1q23; and HTX12 (619702), caused by mutation in the CIROP gene (619703) on chromosome 14q11. Genetic Heterogeneity of Multiple Types of Congenital Heart Defects An X-linked form of CHTD, CHTD1, is caused by mutation in the ZIC3 gene on chromosome Xq26. CHTD2 (614980) is caused by mutation in the TAB2 gene (605101) on chromosome 6q25. A form of nonsyndromic congenital heart defects associated with cardiac rhythm and conduction disturbances (CHTD3; 614954) has been mapped to chromosome 9q31. CHTD4 (615779) is caused by mutation in the NR2F2 gene (107773) on chromosome 15q26. CHTD5 (617912) is caused by mutation in the GATA5 gene (611496) on chromosome 20q13. CHTD6 (613854) is caused by mutation in the GDF1 gene (602880) on chromosome 19p13. CHTD7 (618780) is caused by mutation in the FLT4 gene (136352) on chromosome 5q35.
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
MedGen UID:
411637
Concept ID:
C2748662
Disease or Syndrome
Mitchell-Riley syndrome is characterized by neonatal diabetes, pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia. There is considerable phenotypic overlap between Mitchell-Riley syndrome and Martinez-Frias syndrome (601346), the latter being characterized by the features of the Mitchell-Riley syndrome except for neonatal diabetes, and including tracheoesophageal fistula in some patients (Smith et al., 2010).
Fanconi anemia complementation group Q
MedGen UID:
815318
Concept ID:
C3808988
Disease or Syndrome
Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
MedGen UID:
860891
Concept ID:
C4012454
Disease or Syndrome
A rare, syndromic diabetes mellitus characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis).

Recent clinical studies

Etiology

Ma Y, Lu L, Tan K, Li Z, Guo T, Wu Y, Wu W, Zheng L, Fan F, Mo J, Gong Z
Front Immunol 2022;13:875593. Epub 2022 Aug 25 doi: 10.3389/fimmu.2022.875593. PMID: 36090996Free PMC Article
Gürünlüoğlu S, Gül M, Zararsız G, Akpınar N, Varol FI, Demircan M, Gürünlüoğlu K
Indian J Pathol Microbiol 2022 Jul-Sep;65(3):572-580. doi: 10.4103/ijpm.ijpm_1057_21. PMID: 35900484
Asai A, Wu JF, Wang KS, Yamataka A, Nio M, Su DJ, Short C, Tsuboi K, Ochi T, Sasaki H, Okubo R, Yodoshi T, Konishi K, Rogers ME, Tiao GM; Pacific Biliary Atresia Study Group (PaBAS).
J Pediatr Gastroenterol Nutr 2022 Aug 1;75(2):131-137. Epub 2022 Jun 1 doi: 10.1097/MPG.0000000000003485. PMID: 35653389
Yoeli D, Choudhury RA, Sundaram SS, Mack CL, Roach JP, Karrer FM, Wachs ME, Adams MA
J Pediatr Surg 2022 Oct;57(10):407-413. Epub 2022 Jan 10 doi: 10.1016/j.jpedsurg.2021.12.027. PMID: 35065808
Ando H, Inomata Y, Iwanaka T, Kuroda T, Nio M, Matsui A, Yoshida M; Japanese Biliary Atresia Society.
J Hepatobiliary Pancreat Sci 2021 Jan;28(1):55-61. Epub 2020 Oct 4 doi: 10.1002/jhbp.816. PMID: 32780928

Diagnosis

Gürünlüoğlu S, Gül M, Zararsız G, Akpınar N, Varol FI, Demircan M, Gürünlüoğlu K
Indian J Pathol Microbiol 2022 Jul-Sep;65(3):572-580. doi: 10.4103/ijpm.ijpm_1057_21. PMID: 35900484
Zhou L, Xie J, Gao P, Chen H, Chen S, Wang G, Zhou W, Xie X
Pediatr Radiol 2022 May;52(6):1075-1085. Epub 2022 Mar 2 doi: 10.1007/s00247-022-05280-3. PMID: 35234988
Napolitano M, Franchi-Abella S, Damasio BM, Augdal TA, Avni FE, Bruno C, Darge K, Ključevšek D, Littooij AS, Lobo L, Mentzel HJ, Riccabona M, Stafrace S, Toso S, Woźniak MM, Di Leo G, Sardanelli F, Ording Müller LS, Petit P
Pediatr Radiol 2021 Jul;51(8):1545-1554. Epub 2021 May 11 doi: 10.1007/s00247-021-05034-7. PMID: 33974103
Sandberg JK, Sun Y, Ju Z, Liu S, Jiang J, Koci M, Rosenberg J, Rubesova E, Barth RA
Pediatr Radiol 2021 Aug;51(9):1654-1666. Epub 2021 Mar 27 doi: 10.1007/s00247-021-05024-9. PMID: 33772640
Ando H, Inomata Y, Iwanaka T, Kuroda T, Nio M, Matsui A, Yoshida M; Japanese Biliary Atresia Society.
J Hepatobiliary Pancreat Sci 2021 Jan;28(1):55-61. Epub 2020 Oct 4 doi: 10.1002/jhbp.816. PMID: 32780928

Therapy

Gürünlüoğlu S, Gül M, Zararsız G, Akpınar N, Varol FI, Demircan M, Gürünlüoğlu K
Indian J Pathol Microbiol 2022 Jul-Sep;65(3):572-580. doi: 10.4103/ijpm.ijpm_1057_21. PMID: 35900484
Sanada Y, Sakuma Y, Onishi Y, Okada N, Hirata Y, Horiuchi T, Omameuda T, Lefor AK, Sata N
Surgery 2022 Jun;171(6):1671-1676. Epub 2022 Jan 10 doi: 10.1016/j.surg.2021.11.027. PMID: 35027207
Sakamoto S, Hashizume N, Yagi M, Sasaki H, Nio M; Japanese Biliary Atresia Society.
Pediatr Int 2022 Jan;64(1):e14990. doi: 10.1111/ped.14990. PMID: 34528345
Tainaka T, Hinoki A, Tanaka Y, Shirota C, Sumida W, Yokota K, Makita S, Oshima K, Amano H, Takimoto A, Kano Y, Uchida H
Nagoya J Med Sci 2021 Nov;83(4):765-771. doi: 10.18999/nagjms.83.4.765. PMID: 34916720Free PMC Article
Karpen SJ, Kelly D, Mack C, Stein P
Hepatol Int 2020 Sep;14(5):677-689. Epub 2020 Jul 11 doi: 10.1007/s12072-020-10070-w. PMID: 32653991

Prognosis

Gürünlüoğlu S, Gül M, Zararsız G, Akpınar N, Varol FI, Demircan M, Gürünlüoğlu K
Indian J Pathol Microbiol 2022 Jul-Sep;65(3):572-580. doi: 10.4103/ijpm.ijpm_1057_21. PMID: 35900484
Sanada Y, Sakuma Y, Onishi Y, Okada N, Hirata Y, Horiuchi T, Omameuda T, Lefor AK, Sata N
Surgery 2022 Jun;171(6):1671-1676. Epub 2022 Jan 10 doi: 10.1016/j.surg.2021.11.027. PMID: 35027207
Sandberg JK, Sun Y, Ju Z, Liu S, Jiang J, Koci M, Rosenberg J, Rubesova E, Barth RA
Pediatr Radiol 2021 Aug;51(9):1654-1666. Epub 2021 Mar 27 doi: 10.1007/s00247-021-05024-9. PMID: 33772640
Zhao D, Gong X, Li Y, Sun X, Chen Y, Deng Z, Zhang Y
Ann Hepatol 2021 Jul-Aug;23:100286. Epub 2020 Nov 12 doi: 10.1016/j.aohep.2020.100286. PMID: 33189910
Ando H, Inomata Y, Iwanaka T, Kuroda T, Nio M, Matsui A, Yoshida M; Japanese Biliary Atresia Society.
J Hepatobiliary Pancreat Sci 2021 Jan;28(1):55-61. Epub 2020 Oct 4 doi: 10.1002/jhbp.816. PMID: 32780928

Clinical prediction guides

Cavallo L, Kovar EM, Aqul A, McLoughlin L, Mittal NK, Rodriguez-Baez N, Shneider BL, Zwiener RJ, Chambers TM, Langlois PH, Canfield MA, Agopian AJ, Lupo PJ, Harpavat S
J Pediatr 2022 Jul;246:89-94.e2. Epub 2022 Mar 30 doi: 10.1016/j.jpeds.2022.03.038. PMID: 35364097Free PMC Article
Yoeli D, Choudhury RA, Sundaram SS, Mack CL, Roach JP, Karrer FM, Wachs ME, Adams MA
J Pediatr Surg 2022 Oct;57(10):407-413. Epub 2022 Jan 10 doi: 10.1016/j.jpedsurg.2021.12.027. PMID: 35065808
Napolitano M, Franchi-Abella S, Damasio BM, Augdal TA, Avni FE, Bruno C, Darge K, Ključevšek D, Littooij AS, Lobo L, Mentzel HJ, Riccabona M, Stafrace S, Toso S, Woźniak MM, Di Leo G, Sardanelli F, Ording Müller LS, Petit P
Pediatr Radiol 2021 Jul;51(8):1545-1554. Epub 2021 May 11 doi: 10.1007/s00247-021-05034-7. PMID: 33974103
Sandberg JK, Sun Y, Ju Z, Liu S, Jiang J, Koci M, Rosenberg J, Rubesova E, Barth RA
Pediatr Radiol 2021 Aug;51(9):1654-1666. Epub 2021 Mar 27 doi: 10.1007/s00247-021-05024-9. PMID: 33772640
Zhao D, Gong X, Li Y, Sun X, Chen Y, Deng Z, Zhang Y
Ann Hepatol 2021 Jul-Aug;23:100286. Epub 2020 Nov 12 doi: 10.1016/j.aohep.2020.100286. PMID: 33189910

Recent systematic reviews

He L, Ip DKM, Tam G, Lui VCH, Tam PKH, Chung PHY
Sci Rep 2021 Jun 3;11(1):11692. doi: 10.1038/s41598-021-91072-y. PMID: 34083585Free PMC Article
Napolitano M, Franchi-Abella S, Damasio MB, Augdal TA, Avni FE, Bruno C, Darge K, Ključevšek D, Littooij AS, Lobo L, Mentzel HJ, Riccabona M, Stafrace S, Toso S, Woźniak MM, Di Leo G, Sardanelli F, Ording Müller LS, Petit P
Pediatr Radiol 2021 Feb;51(2):314-331. Epub 2020 Nov 17 doi: 10.1007/s00247-020-04840-9. PMID: 33201318
Xu X, Zhan J
Pediatr Surg Int 2020 Aug;36(8):953-958. Epub 2020 Jun 5 doi: 10.1007/s00383-020-04690-4. PMID: 32504124
Tyraskis A, Parsons C, Davenport M
Cochrane Database Syst Rev 2018 May 14;5:CD008735. doi: 10.1002/14651858.CD008735.pub3. PMID: 29761473Free PMC Article
Yoon HM, Suh CH, Kim JR, Lee JS, Jung AY, Cho YA
J Ultrasound Med 2017 Oct;36(10):2027-2038. Epub 2017 May 27 doi: 10.1002/jum.14234. PMID: 28556285

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