Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

Alagille syndrome

A rare syndrome variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys.

Cholestasis

Impairment of bile flow due to obstruction in bile ducts.

Total: 36

(per page)

PMID (PMCID)
30791938	MALE	Infant
	Not only Alagille syndrome. Syndromic paucity of interlobular bile ducts secondary to HNF1beta deficiency: a case report and literature review.
	Pinon M, Carboni M, Colavito D, Cisaro F, Peruzzi L, Pizzol A, Calosso G, David E, Calvo PL. Ital J Pediatr. 2019;45(1):27.
	We suggest that HNF1946 deficiency should also be ruled out, taking into consideration HNF1946 mutations, together with Alagille syndrome, in next generation sequencing strategies in neonates with cholestasis, renal impairment and/or paucity of interlobular bile ducts at liver biopsy.
30791938	MALE	Infant
	Not only Alagille syndrome. Syndromic paucity of interlobular bile ducts secondary to HNF1beta deficiency: a case report and literature review.
	Pinon M, Carboni M, Colavito D, Cisaro F, Peruzzi L, Pizzol A, Calosso G, David E, Calvo PL. Ital J Pediatr. 2019;45(1):27.
	Alagille syndrome may not be the only syndrome determining paucity of interlobular bile ducts in neonates presenting with cholestasis and renal impairment, especially in small for gestational age newborns.
31145285	MALE
	Persistent cholestasis resulting from duodenal papillary carcinoma in an adolescent male: A case report.
	Fu H, Li Y, Bai G, Yin R, Yin C, Shi W, Zhang L, Li R, Zhao R. Medicine (Baltimore). 2019;98(22):e15708.
	Additional laboratory tests eliminated common causes of cholestasis such as bacterial/viral infection, autoimmune liver disease, Wilson disease, Alagille syndrome, or progressive familial intrahepatic cholestasis type 3.
30907355	FEMALE	Child
	[Liver dysfunction for 8 years with hypertension for 1 week in an 8-year-old girl].
	Kuang J, Zheng XR, Zhang GY, Wang X, Liu CT, Wu ML, Tang YJ. Zhongguo Dang Dai Er Ke Za Zhi. 2019;21(3):282-286.
	The rare disease Alagille syndrome should be considered when a child has refractory hypertension with the involvement of multiple systems, especially liver dysfunction with cholestasis as the main manifestation.
30046498 (6036836)	OTHER
	A Novel c.91dupG JAG1 Gene Mutation Is Associated with Early Onset and Severe Alagille Syndrome.
	Reyes-de la Rosa ADP, Varela-Fascinetto G, Garcia-Delgado C, Vazquez-Martinez ER, Valencia-Mayoral P, Cerbon M, Moran-Barroso VF. Case Rep Genet. 2018;2018:1369413.
	Alagille syndrome (MIM 118450) is an autosomal dominant disorder characterized by paucity of intrahepatic bile ducts, chronic cholestasis, pulmonary stenosis, butterfly-like vertebrae, posterior embryotoxon, and dysmorphic facial features.
30543192	MALE	Infant, Newborn
	Alagille syndrome: a case report.
	Benabed Y, Chaillou E, Denis MC, Simard G, Reynier P, Homedan C. Ann Biol Clin (Paris). 2018;76(6):675-680.
	We report the case of an infant hospitalized for neonatal anoxic ischemia in whom the diagnosis of Alagille syndrome (SAG; MIM # 118450) was suspected in the presence of major cholestasis, cardiac malformations, suggestive facial dysmorphia, and vertebral and ocular abnormalities.
29187043	MALE	Infant, Newborn
	An Atypical Presentation of Alagille Syndrome.
	Wu KY, Treece AL, Russo PA, Wen JW. Pediatr Dev Pathol. 2018;21(1):79-83.
	This case highlights that there may be both atypical clinical and pathologic findings in mutation-proven Alagille syndrome and that the diagnosis of Alagille syndrome should be considered in cases of ongoing bile duct damage in the setting of early-onset jaundice, cholestasis, hepatosplenomegaly, posterior embryotoxon in the eyes, and butterfly vertebrae.
29187043	MALE	Infant, Newborn
	An Atypical Presentation of Alagille Syndrome.
	Wu KY, Treece AL, Russo PA, Wen JW. Pediatr Dev Pathol. 2018;21(1):79-83.
	This case highlights that there may be both atypical clinical and pathologic findings in mutation-proven Alagille syndrome and that the diagnosis of Alagille syndrome should be considered in cases of ongoing bile duct damage in the setting of early-onset jaundice, cholestasis, hepatosplenomegaly, posterior embryotoxon in the eyes, and butterfly vertebrae.
28683534 (5628001)	MALE	Adult
	A case of Alagille syndrome presenting with chronic cholestasis in an adult.
	Kim J, Yang B, Paik N, Choe YH, Paik YH. Clin Mol Hepatol. 2017;23(3):260-264.
	A case of Alagille syndrome presenting with chronic cholestasis in an adult.
28501843	OTHER
	[Secondary osteoporosisn in boys with Alagille syndrome. Case report].
	Jakubowska-Pietkiewicz E, miechowicz E, Chlebna-Sokol D. Wiad Lek. 2015;68(3 pt 2):406-409.
	Alagille syndrome is a multiorgan disorder, which especially manifests itself with cholestasis, characteristic facial features, circulatory systems defects, defects of the front segment of the eye, dysplastic changes in bones and kidneys and impaired angiogenesis.The disease is caused by Jagged 1 gene mutation (JAG, 20p12 chromosome) which encodes ligand for Notch receptor.
25333075	MALE
	Unusual clinical manifestations in a case of Alagille syndrome.
	Gadkari R, Doshi B, Nayak C, Ghildiyal R, Madke B, Ghia D. Pediatr Dermatol. 2014;31(5):599-602.
	Alagille syndrome, also known as arteriohepatic dysplasia, is a multisystem autosomal dominant disorder characterized by chronic cholestasis due to a paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis with associated vertebral, ocular, and renal anomalies, and characteristic facies.
25333075	MALE
	Unusual clinical manifestations in a case of Alagille syndrome.
	Gadkari R, Doshi B, Nayak C, Ghildiyal R, Madke B, Ghia D. Pediatr Dermatol. 2014;31(5):599-602.
	Alagille syndrome, also known as arteriohepatic dysplasia, is a multisystem autosomal dominant disorder characterized by chronic cholestasis due to a paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis with associated vertebral, ocular, and renal anomalies, and characteristic facies.
22923029	FEMALE
	Atherosclerosis causing recurrent catastrophic aortopulmonary shunt dehiscence in a patient with Alagille syndrome.
	May L, Hanley FL, Connolly AJ, Reddy S. Pediatr Cardiol. 2013;34(8):1945-8.
	This report describes a 3 year-old girl with Alagille syndrome, hepatic cholestasis, systemic hypertension, hypercholesterolemia, hypertriglyceridemia, and tetralogy of Fallot, pulmonary atresia, and major aortopulmonary collaterals (TOF/PA/MAPCAs).
22813814	MALE	Infant
	Partial internal biliary diversion for Alagille syndrome: case report and review of the literature.
	Sheflin-Findling S, Arnon R, Lee S, Chu J, Henderling F, Kerkar N, Iyer K. J Pediatr Surg. 2012;47(7):1453-6.
	Alagille syndrome is a hereditary disease resulting in chronic cholestasis and hypercholesterolemia that can lead to severe and intractable pruritus and disfiguring and debilitating xanthomas.
22690284	MALE	Infant
	Paucity of biliary ducts: A rare etiology of neonatal cholestasis.
	Figiel SC, Franco A, Pucar D, Lewis KN, Lee JR. J Radiol Case Rep. 2012;6(2):29-38.
	We report a case of a newborn with cholestasis that was diagnosed as nonsyndromic Alagille syndrome.
21925870	FEMALE	Adult
	Alagille syndrome and pregnancy: anesthetic management for cesarean section.
	Rahmoune FC, Bruyere M, Tecsy M, Benhamou D. Int J Obstet Anesth. 2011;20(4):355-8.
	She was diagnosed with Alagille syndrome soon after birth because of cholestasis and pruritus.
21714972	FEMALE	Child
	Oxidative stress-induced apoptosis in two patients with Alagille syndrome.
	Radi E, Formichi P, Di Maio G, Battisti C, Federico A. J Neurol Sci. 2011;308(1-2):49-56.
	Alagille syndrome (AGS) is an autosomal dominant disorder characterized by cholestasis, cardiac, skeletal and ocular abnormalities.
20091053	FEMALE
	Glomerular basement membrane lipidosis in Alagille syndrome.
	Davis J, Griffiths R, Larkin K, Rozansky D, Troxell M. Pediatr Nephrol. 2010;25(6):1181-4.
	Alagille syndrome is characterized by a paucity of interlobular bile ducts with chronic cholestasis, cardiac, skeletal, and eye abnormalities and is associated predominantly with JAG1 mutations.
20108035	FEMALE	Adult
	Management of large hepatocellular carcinoma in adult patients with Alagille syndrome: a case report and review of literature.
	Tsai S, Gurakar A, Anders R, Lam-Himlin D, Boitnott J, Pawlik TM. Dig Dis Sci. 2010;55(11):3052-8.
	Alagille syndrome is a multi-system developmental disorder associated with paucity of interlobular bile ducts and cholestasis, rarely associated with hepatocellular carcinoma.
16410117	MIXED_SAMPLE	Infant
	Relief of intractable pruritus in Alagille syndrome by partial external biliary diversion.
	Mattei P, von Allmen D, Piccoli D, Rand E. J Pediatr Surg. 2006;41(1):104-7; discussion 104-7.
	Patients with Alagille syndrome (AGS) may develop pruritus, skin hypertrophy, and xanthomas because of chronic cholestasis and hypercholesterolemia.