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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:
Non-Mendelian inheritance
MedGen UID:
109109
Concept ID:
C0600599
Genetic Function
Source: Orphanet
A mode of inheritance that depends on genetic determinants in more than one gene.
 
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. CHTD8 (619657) is caused by mutation in the SMAD2 gene (601366) on chromosome 18q21. CHTD9 (620294) is caused by mutation in the PLXND1 gene (604282) on chromosome 3q22.
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
Congenital Abnormality
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).

Professional guidelines

PubMed

Brahee DD, Lampl BS
Pediatr Radiol 2022 Apr;52(4):685-692. Epub 2021 Jul 31 doi: 10.1007/s00247-021-05148-y. PMID: 34331566
Feldman AG, Sokol RJ
Neoreviews 2021 Dec 1;22(12):e819-e836. doi: 10.1542/neo.22-12-e819. PMID: 34850148Free PMC Article
Mitra S, Rennie J
Br J Hosp Med (Lond) 2017 Dec 2;78(12):699-704. doi: 10.12968/hmed.2017.78.12.699. PMID: 29240507

Recent clinical studies

Etiology

Amarachintha SP, Mourya R, Ayabe H, Yang L, Luo Z, Li X, Thanekar U, Shivakumar P, Bezerra JA
Hepatology 2022 Jan;75(1):89-103. Epub 2021 Dec 4 doi: 10.1002/hep.32107. PMID: 34392560Free PMC Article
Shen WJ, Chen G, Wang M, Zheng S
World J Pediatr 2019 Apr;15(2):117-123. Epub 2018 Nov 21 doi: 10.1007/s12519-018-0203-1. PMID: 30465125
Kelay A, Davenport M
Semin Pediatr Surg 2017 Oct;26(5):295-300. Epub 2017 Sep 8 doi: 10.1053/j.sempedsurg.2017.09.003. PMID: 29110825
Hartley JL, Davenport M, Kelly DA
Lancet 2009 Nov 14;374(9702):1704-13. doi: 10.1016/S0140-6736(09)60946-6. PMID: 19914515
Chardot C
Orphanet J Rare Dis 2006 Jul 26;1:28. doi: 10.1186/1750-1172-1-28. PMID: 16872500Free PMC Article

Diagnosis

Antala S, Taylor SA
Clin Liver Dis 2022 Aug;26(3):341-354. Epub 2022 Jun 25 doi: 10.1016/j.cld.2022.03.001. PMID: 35868678Free PMC Article
Brahee DD, Lampl BS
Pediatr Radiol 2022 Apr;52(4):685-692. Epub 2021 Jul 31 doi: 10.1007/s00247-021-05148-y. PMID: 34331566
Lendahl U, Lui VCH, Chung PHY, Tam PKH
EBioMedicine 2021 Dec;74:103689. Epub 2021 Nov 12 doi: 10.1016/j.ebiom.2021.103689. PMID: 34781099Free PMC Article
Lakshminarayanan B, Davenport M
J Autoimmun 2016 Sep;73:1-9. Epub 2016 Jun 23 doi: 10.1016/j.jaut.2016.06.005. PMID: 27346637
Hartley JL, Davenport M, Kelly DA
Lancet 2009 Nov 14;374(9702):1704-13. doi: 10.1016/S0140-6736(09)60946-6. PMID: 19914515

Therapy

Shirley M
Drugs 2022 Jan;82(1):71-76. doi: 10.1007/s40265-021-01649-0. PMID: 34813049Free PMC Article
Lakshminarayanan B, Davenport M
J Autoimmun 2016 Sep;73:1-9. Epub 2016 Jun 23 doi: 10.1016/j.jaut.2016.06.005. PMID: 27346637
Nizery L, Chardot C, Sissaoui S, Capito C, Henrion-Caude A, Debray D, Girard M
Clin Res Hepatol Gastroenterol 2016 Jun;40(3):281-287. Epub 2016 Jan 5 doi: 10.1016/j.clinre.2015.11.010. PMID: 26775892
Chen Y, Nah SA, Chiang L, Krishnaswamy G, Low Y
J Pediatr Surg 2015 Sep;50(9):1590-4. Epub 2015 Jun 5 doi: 10.1016/j.jpedsurg.2015.05.016. PMID: 26143225
Nguyen KD, Sundaram V, Ayoub WS
World J Gastroenterol 2014 Jul 28;20(28):9418-26. doi: 10.3748/wjg.v20.i28.9418. PMID: 25071336Free PMC Article

Prognosis

Shen WJ, Chen G, Wang M, Zheng S
World J Pediatr 2019 Apr;15(2):117-123. Epub 2018 Nov 21 doi: 10.1007/s12519-018-0203-1. PMID: 30465125
Nio M
Pediatr Surg Int 2017 Dec;33(12):1319-1325. Epub 2017 Oct 16 doi: 10.1007/s00383-017-4160-x. PMID: 29039049
Matsui A
Pediatr Surg Int 2017 Dec;33(12):1305-1313. Epub 2017 Oct 5 doi: 10.1007/s00383-017-4175-3. PMID: 28983697
Lakshminarayanan B, Davenport M
J Autoimmun 2016 Sep;73:1-9. Epub 2016 Jun 23 doi: 10.1016/j.jaut.2016.06.005. PMID: 27346637
McKiernan P
Clin Res Hepatol Gastroenterol 2012 Jun;36(3):253-6. Epub 2012 May 18 doi: 10.1016/j.clinre.2012.03.018. PMID: 22609294

Clinical prediction guides

Harpavat S, Garcia-Prats JA, Anaya C, Brandt ML, Lupo PJ, Finegold MJ, Obuobi A, ElHennawy AA, Jarriel WS, Shneider BL
JAMA 2020 Mar 24;323(12):1141-1150. doi: 10.1001/jama.2020.0837. PMID: 32207797Free PMC Article
Madadi-Sanjani O, Petersen C
Eur J Pediatr Surg 2019 Aug;29(4):336-341. Epub 2019 Aug 14 doi: 10.1055/s-0039-1694009. PMID: 31412364
Shen WJ, Chen G, Wang M, Zheng S
World J Pediatr 2019 Apr;15(2):117-123. Epub 2018 Nov 21 doi: 10.1007/s12519-018-0203-1. PMID: 30465125
Matsui A
Pediatr Surg Int 2017 Dec;33(12):1305-1313. Epub 2017 Oct 5 doi: 10.1007/s00383-017-4175-3. PMID: 28983697
Atchie B, Kalva S, Josephs S
Tech Vasc Interv Radiol 2015 Dec;18(4):276-84. Epub 2015 Jul 16 doi: 10.1053/j.tvir.2015.07.011. PMID: 26615168

Recent systematic reviews

Ranucci G, Della Corte C, Alberti D, Bondioni MP, Boroni G, Calvo PL, Cananzi M, Candusso M, Clemente MG, D'Antiga L, Degrassi I, De Ville De Goyet J, Di Dato F, Di Giorgio A, Vici CD, Ferrari F, Francalanci P, Fuoti M, Fusaro F, Gaio P, Grimaldi C, Iascone M, Indolfi G, Iorio R, Maggiore G, Mandato C, Matarazzo L, Monti L, Mosca F, Nebbia G, Nuti F, Paolella G, Pinon M, Roggero P, Sciveres M, Serranti D, Spada M, Vajro P, Nicastro E
Dig Liver Dis 2022 Jan;54(1):40-53. Epub 2021 Oct 20 doi: 10.1016/j.dld.2021.09.011. PMID: 34688573
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
Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E
J Inherit Metab Dis 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. PMID: 30740725
Kasahara M, Umeshita K, Sakamoto S, Fukuda A, Furukawa H, Uemoto S
Pediatr Surg Int 2017 Dec;33(12):1289-1295. Epub 2017 Oct 5 doi: 10.1007/s00383-017-4173-5. PMID: 28983725
Chen Y, Nah SA, Chiang L, Krishnaswamy G, Low Y
J Pediatr Surg 2015 Sep;50(9):1590-4. Epub 2015 Jun 5 doi: 10.1016/j.jpedsurg.2015.05.016. PMID: 26143225

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