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MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: Cholangitides
SNOMED CT: Cholangitis (82403002)
HPO: HP:0030151
Monarch Initiative: MONDO:0004789


Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both. [from HPO]

Conditions with this feature

Acrodermatitis continua suppurativa of Hallopeau
MedGen UID:
Concept ID:
Disease or Syndrome
A rare, genetic, chronic, recurrent, slowly progressive, epidermal disease characterized by small, sterile, pustular eruptions, involving the nails and surrounding skin of the fingers and/or toes, which coalesce and burst, leaving erythematous, atrophic skin where new pustules develop. Onychodystrophy is frequently associated and anonychia and osteolysis are reported in severe cases. Local expansion (to involve the hands, forearms and/or feet) and involvement of mucosal surfaces (e.g. conjunctiva, tongue, urethra) may be observed.
Cholestasis-pigmentary retinopathy-cleft palate syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
MED12-related disorders include the phenotypes of FG syndrome type 1 (FGS1), Lujan syndrome (LS), X-linked Ohdo syndrome (XLOS), Hardikar syndrome (HS), and nonspecific intellectual disability (NSID). FGS1 and LS share the clinical findings of cognitive impairment, hypotonia, and abnormalities of the corpus callosum. FGS1 is further characterized by absolute or relative macrocephaly, tall forehead, downslanted palpebral fissures, small and simple ears, constipation and/or anal anomalies, broad thumbs and halluces, and characteristic behavior. LS is further characterized by large head, tall thin body habitus, long thin face, prominent nasal bridge, high narrow palate, and short philtrum. Carrier females in families with FGS1 and LS are typically unaffected. XLOS is characterized by intellectual disability, blepharophimosis, and facial coarsening. HS has been described in females with cleft lip and/or cleft palate, biliary and liver anomalies, intestinal malrotation, pigmentary retinopathy, and coarctation of the aorta. Developmental and cognitive concerns have not been reported in females with HS. Pathogenic variants in MED12 have been reported in an increasing number of males and females with NSID, with affected individuals often having clinical features identified in other MED12-related disorders.
Saldino-Mainzer syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330). For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500).
Low phospholipid associated cholelithiasis
MedGen UID:
Concept ID:
Disease or Syndrome
In general, gallbladder disease (GBD) is one of the major digestive diseases. GBD prevalence is particularly high in some minority populations in the United States, including Native and Mexican Americans. Gallstones composed of cholesterol (cholelithiasis) are the common manifestations of GBD in western countries, including the United States. Most people with gallstones remain asymptomatic through their lifetimes; however, it is estimated that approximately 10 to 50% of individuals eventually develop symptoms. Significant risk factors associated with GBD are age, female sex, obesity (especially central obesity), lipids, diet, parity, type 2 diabetes (125853), medications, and Mexican American ethnicity. GBD appears to be strongly related to the metabolic syndrome (605552) and/or its major components, such as hyperinsulinism, dyslipidemia, and abdominal adiposity (Boland et al., 2002; Tsai et al., 2004). Infection, specifically by Helicobacter, has been implicated in cholelithiasis and cholecystitis (Silva et al., 2003; Maurer et al., 2005). Low phospholipid-associated cholelithiasis is a specific form of gallbladder disease characterized by young-adult onset of chronic cholestasis with intrahepatic sludge and cholesterol cholelithiasis. Affected individuals have recurrence of the disorder after cholecystectomy and show a favorable response to treatment with ursodeoxycholic acid (UDCA) (summary by Pasmant et al., 2012). Mutation in the ABCB4 gene can cause a spectrum of related diseases, including the more severe progressive familial intrahepatic cholestasis-3 (PFIC3; 602347), intrahepatic cholestasis of pregnancy-3 (ICP3; 614972), andoral contraceptive-induced cholestasis (OCIC; see 614972). Genetic Heterogeneity of Gallbladder Disease Two major susceptibility loci for symptomatic gallbladder disease have been identified on chromosome 1p in Mexican Americans (GBD2, 609918; GBD3, 609919). In addition, variations in the ABCG8 gene (605460) on chromosome 2p21 confer susceptibility to gallbladder disease (GBD4; 611465).
MHC class II deficiency
MedGen UID:
Concept ID:
Disease or Syndrome
A rare autosomal recessive primary immunodeficiency characterized by absence of HLA class II molecules on the surface of immune cells, leading to severely impaired cellular and humoral immune response to foreign antigens, severe CD4+ T-cell lymphopenia, and hypogammaglobulinemia. The disease clinically manifests with early onset of severe and recurrent infections mainly of the respiratory and gastrointestinal tract, protracted diarrhea with failure to thrive, and autoimmune disease, and is frequently fatal in childhood.
Cranioectodermal dysplasia 2
MedGen UID:
Concept ID:
Disease or Syndrome
Cranioectodermal dysplasia (CED) is a ciliopathy with skeletal involvement (narrow thorax, shortened proximal limbs, syndactyly, polydactyly, brachydactyly), ectodermal features (widely spaced hypoplastic teeth, hypodontia, sparse hair, skin laxity, abnormal nails), joint laxity, growth deficiency, and characteristic facial features (frontal bossing, low-set simple ears, high forehead, telecanthus, epicanthal folds, full cheeks, everted lower lip). Most affected children develop nephronophthisis that often leads to end-stage kidney disease in infancy or childhood, a major cause of morbidity and mortality. Hepatic fibrosis and retinal dystrophy are also observed. Dolichocephaly, often secondary to sagittal craniosynostosis, is a primary manifestation that distinguishes CED from most other ciliopathies. Brain malformations and developmental delay may also occur.
Mitochondrial complex III deficiency nuclear type 1
MedGen UID:
Concept ID:
Disease or Syndrome
Autosomal recessive mitochondrial complex III deficiency is a severe multisystem disorder with onset at birth of lactic acidosis, hypotonia, hypoglycemia, failure to thrive, encephalopathy, and delayed psychomotor development. Visceral involvement, including hepatopathy and renal tubulopathy, may also occur. Many patients die in early childhood, but some may show longer survival (de Lonlay et al., 2001; De Meirleir et al., 2003). Genetic Heterogeneity of Mitochondrial Complex III Deficiency Mitochondrial complex III deficiency can be caused by mutation in several different nuclear-encoded genes. See MC3DN2 (615157), caused by mutation in the TTC19 gene (613814) on chromosome 17p12; MC3DN3 (615158), caused by mutation in the UQCRB gene (191330) on chromosome 8q; MC3DN4 (615159), caused by mutation in the UQCRQ gene (612080) on chromosome 5q31; MC3DN5 (615160), caused by mutation in the UQCRC2 gene (191329) on chromosome 16p12; MC3DN6 (615453), caused by mutation in the CYC1 gene (123980) on chromosome 8q24; MC3DN7 (615824), caused by mutation in the UQCC2 gene (614461) on chromosome 6p21; MC3DN8 (615838), caused by mutation in the LYRM7 gene (615831) on chromosome 5q23; MC3DN9 (616111), caused by mutation in the UQCC3 gene (616097) on chromosome 11q12; and MC3DN10 (618775), caused by mutation in the UQCRFS1 gene (191327) on chromosome 19q12. See also MTYCB (516020) for a discussion of a milder phenotype associated with isolated mitochondrial complex III deficiency and mutations in a mitochondrial-encoded gene.
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Immunodeficiency-56 is an autosomal recessive primary immunodeficiency characterized by B- and T-cell defects and variable dysfunction of NK cells. Patients tend to have normal numbers of lymphocytes, but show defective class-switched B cells, low IgG, defective antibody response, and defective T-cell responses to certain antigens (summary by Kotlarz et al., 2013).
Immunodeficiency 92
MedGen UID:
Concept ID:
Disease or Syndrome
Immunodeficiency-92 (IMD92) is an autosomal recessive primary immunodeficiency characterized by the onset of recurrent infections in infancy or early childhood. Infectious agents are broad, including bacterial, viral, fungal, and parasitic, including Cryptosporidium and Mycobacteria. Patient lymphocytes show defects in both T- and B-cell proliferation, cytokine secretion, and overall function, and there is also evidence of dysfunction of NK, certain antigen-presenting cells, and myeloid subsets. Hematopoietic stem cell transplantation may be curative (summary by Beaussant-Cohen et al., 2019 and Levy et al., 2021).

Professional guidelines


Rogler G, Singh A, Kavanaugh A, Rubin DT
Gastroenterology 2021 Oct;161(4):1118-1132. Epub 2021 Aug 3 doi: 10.1053/j.gastro.2021.07.042. PMID: 34358489Free PMC Article
An Z, Braseth AL, Sahar N
Gastroenterol Clin North Am 2021 Jun;50(2):403-414. Epub 2021 Apr 23 doi: 10.1016/j.gtc.2021.02.005. PMID: 34024448
Mayumi T, Okamoto K, Takada T, Strasberg SM, Solomkin JS, Schlossberg D, Pitt HA, Yoshida M, Gomi H, Miura F, Garden OJ, Kiriyama S, Yokoe M, Endo I, Asbun HJ, Iwashita Y, Hibi T, Umezawa A, Suzuki K, Itoi T, Hata J, Han HS, Hwang TL, Dervenis C, Asai K, Mori Y, Huang WS, Belli G, Mukai S, Jagannath P, Cherqui D, Kozaka K, Baron TH, de Santibañes E, Higuchi R, Wada K, Gouma DJ, Deziel DJ, Liau KH, Wakabayashi G, Padbury R, Jonas E, Supe AN, Singh H, Gabata T, Chan ACW, Lau WY, Fan ST, Chen MF, Ker CG, Yoon YS, Choi IS, Kim MH, Yoon DS, Kitano S, Inomata M, Hirata K, Inui K, Sumiyama Y, Yamamoto M
J Hepatobiliary Pancreat Sci 2018 Jan;25(1):96-100. Epub 2017 Dec 16 doi: 10.1002/jhbp.519. PMID: 29090868

Recent clinical studies


Prokopič M, Beuers U
Hepatol Int 2021 Feb;15(1):6-20. Epub 2020 Dec 30 doi: 10.1007/s12072-020-10118-x. PMID: 33377990Free PMC Article
Chapman MH, Thorburn D, Hirschfield GM, Webster GGJ, Rushbrook SM, Alexander G, Collier J, Dyson JK, Jones DE, Patanwala I, Thain C, Walmsley M, Pereira SP
Gut 2019 Aug;68(8):1356-1378. Epub 2019 Jun 1 doi: 10.1136/gutjnl-2018-317993. PMID: 31154395Free PMC Article
Dyson JK, Beuers U, Jones DEJ, Lohse AW, Hudson M
Lancet 2018 Jun 23;391(10139):2547-2559. Epub 2018 Feb 13 doi: 10.1016/S0140-6736(18)30300-3. PMID: 29452711
Karlsen TH, Folseraas T, Thorburn D, Vesterhus M
J Hepatol 2017 Dec;67(6):1298-1323. Epub 2017 Aug 10 doi: 10.1016/j.jhep.2017.07.022. PMID: 28802875
Decharun K, Leys CM, West KW, Finnell SM
Clin Pediatr (Phila) 2016 Jan;55(1):66-72. Epub 2015 Jul 15 doi: 10.1177/0009922815594760. PMID: 26183324


Sarcognato S, Sacchi D, Grillo F, Cazzagon N, Fabris L, Cadamuro M, Cataldo I, Covelli C, Mangia A, Guido M
Pathologica 2021 Jun;113(3):170-184. doi: 10.32074/1591-951X-245. PMID: 34294935Free PMC Article
An Z, Braseth AL, Sahar N
Gastroenterol Clin North Am 2021 Jun;50(2):403-414. Epub 2021 Apr 23 doi: 10.1016/j.gtc.2021.02.005. PMID: 34024448
Tanaka A
Gut Liver 2019 May 15;13(3):300-307. doi: 10.5009/gnl18085. PMID: 30205418Free PMC Article
Kerkar N, Chan A
Clin Liver Dis 2018 Nov;22(4):689-702. doi: 10.1016/j.cld.2018.06.005. PMID: 30266157
Karlsen TH, Folseraas T, Thorburn D, Vesterhus M
J Hepatol 2017 Dec;67(6):1298-1323. Epub 2017 Aug 10 doi: 10.1016/j.jhep.2017.07.022. PMID: 28802875


Levy C, Manns M, Hirschfield G
Clin Gastroenterol Hepatol 2023 Jul;21(8):2076-2087. Epub 2023 Feb 19 doi: 10.1016/j.cgh.2023.02.005. PMID: 36809835
Lleo A, Wang GQ, Gershwin ME, Hirschfield GM
Lancet 2020 Dec 12;396(10266):1915-1926. doi: 10.1016/S0140-6736(20)31607-X. PMID: 33308474
Little R, Wine E, Kamath BM, Griffiths AM, Ricciuto A
World J Gastroenterol 2020 Jun 7;26(21):2768-2780. doi: 10.3748/wjg.v26.i21.2768. PMID: 32550753Free PMC Article
Cheng HS, Tan WR, Low ZS, Marvalim C, Lee JYH, Tan NS
Int J Mol Sci 2019 Oct 11;20(20) doi: 10.3390/ijms20205055. PMID: 31614690Free PMC Article
Decharun K, Leys CM, West KW, Finnell SM
Clin Pediatr (Phila) 2016 Jan;55(1):66-72. Epub 2015 Jul 15 doi: 10.1177/0009922815594760. PMID: 26183324


Martin EF
Clin Liver Dis 2022 Nov;26(4):765-781. doi: 10.1016/j.cld.2022.06.014. PMID: 36270728
Colapietro F, Bertazzoni A, Lleo A
Clin Liver Dis 2022 Nov;26(4):555-570. Epub 2022 Sep 11 doi: 10.1016/j.cld.2022.06.001. PMID: 36270716
Trivedi PJ, Hirschfield GM
Gut 2021 Oct;70(10):1989-2003. Epub 2021 Jul 15 doi: 10.1136/gutjnl-2020-322362. PMID: 34266966
Bergquist A, von Seth E
Best Pract Res Clin Gastroenterol 2015 Apr;29(2):221-32. Epub 2015 Feb 16 doi: 10.1016/j.bpg.2015.02.003. PMID: 25966423
Rizvi S, Gores GJ
Gastroenterology 2013 Dec;145(6):1215-29. Epub 2013 Oct 15 doi: 10.1053/j.gastro.2013.10.013. PMID: 24140396Free PMC Article

Clinical prediction guides

Rogler G, Singh A, Kavanaugh A, Rubin DT
Gastroenterology 2021 Oct;161(4):1118-1132. Epub 2021 Aug 3 doi: 10.1053/j.gastro.2021.07.042. PMID: 34358489Free PMC Article
Kim TS, Choi DH
Korean J Gastroenterol 2020 Apr 25;75(4):182-187. doi: 10.4166/kjg.2020.75.4.182. PMID: 32326684
Hirschfield GM, Dyson JK, Alexander GJM, Chapman MH, Collier J, Hübscher S, Patanwala I, Pereira SP, Thain C, Thorburn D, Tiniakos D, Walmsley M, Webster G, Jones DEJ
Gut 2018 Sep;67(9):1568-1594. Epub 2018 Mar 28 doi: 10.1136/gutjnl-2017-315259. PMID: 29593060Free PMC Article
Ely R, Long B, Koyfman A
J Emerg Med 2018 Jan;54(1):64-72. Epub 2017 Sep 20 doi: 10.1016/j.jemermed.2017.06.039. PMID: 28939398
Yashiro M
World J Gastroenterol 2014 Nov 28;20(44):16389-97. doi: 10.3748/wjg.v20.i44.16389. PMID: 25469007Free PMC Article

Recent systematic reviews

Deb A, Perisetti A, Goyal H, Aloysius MM, Sachdeva S, Dahiya D, Sharma N, Thosani N
Dig Dis Sci 2022 May;67(5):1718-1732. Epub 2022 Mar 9 doi: 10.1007/s10620-022-07441-8. PMID: 35262904
Barberio B, Massimi D, Cazzagon N, Zingone F, Ford AC, Savarino EV
Gastroenterology 2021 Dec;161(6):1865-1877. Epub 2021 Aug 20 doi: 10.1053/j.gastro.2021.08.032. PMID: 34425093
Schreuder AM, Busch OR, Besselink MG, Ignatavicius P, Gulbinas A, Barauskas G, Gouma DJ, van Gulik TM
Dig Surg 2020;37(1):10-21. Epub 2019 Jan 17 doi: 10.1159/000496432. PMID: 30654363Free PMC Article
Mieli-Vergani G, Vergani D, Baumann U, Czubkowski P, Debray D, Dezsofi A, Fischler B, Gupte G, Hierro L, Indolfi G, Jahnel J, Smets F, Verkade HJ, Hadžić N
J Pediatr Gastroenterol Nutr 2018 Feb;66(2):345-360. doi: 10.1097/MPG.0000000000001801. PMID: 29356770
Decharun K, Leys CM, West KW, Finnell SM
Clin Pediatr (Phila) 2016 Jan;55(1):66-72. Epub 2015 Jul 15 doi: 10.1177/0009922815594760. PMID: 26183324

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