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Arteriohepatic dysplasia(AWS; ALGS; AHD)

MedGen UID:
39014
Concept ID:
C0085280
Congenital Abnormality
Synonyms: Alagille syndrome; Cardiovertebral syndrome; Hepatofacioneurocardiovertebral syndrome; Watson-Miller syndrome
SNOMED CT: Arteriohepatic dysplasia (31742004); Alagille syndrome (31742004); Watson-Alagille syndrome (31742004)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Related genes: NOTCH2, JAG1
 
Monarch Initiative: MONDO:0007318
OMIM®: 118450
OMIM® Phenotypic series: PS118450
Orphanet: ORPHA52

Disease characteristics

Excerpted from the GeneReview: Alagille Syndrome
Alagille syndrome (ALGS) is a multisystem disorder with a wide spectrum of clinical variability; this variability is seen even among individuals from the same family. The major clinical manifestations of ALGS are bile duct paucity on liver biopsy, cholestasis, congenital cardiac defects (primarily involving the pulmonary arteries), butterfly vertebrae, ophthalmologic abnormalities (most commonly posterior embryotoxon), and characteristic facial features. Renal abnormalities, growth failure, behavioral differences, splenomegaly, retinal changes, and vascular abnormalities may also occur. [from GeneReviews]
Authors:
Nancy B Spinner  |  Kathleen M Loomes  |  Ian D Krantz, et. al.   view full author information

Additional description

From OMIM
Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype (Li et al., 1997). Cholestasis is a direct consequence of the paucity of bile ducts. About 39% of patients also have renal involvement, mainly renal dysplasia (Kamath et al., 2012). Turnpenny and Ellard (2012) reviewed the clinical features, diagnosis, pathogenesis, and genetics of Alagille syndrome. Genetic Heterogeneity of Alagille Syndrome Another form of Alagille syndrome (ALGS2; 610205) is caused by mutation in the NOTCH2 gene (600275).  http://www.omim.org/entry/118450

Professional guidelines

PubMed

Turnpenny PD, Ellard S
Eur J Hum Genet 2012 Mar;20(3):251-7. Epub 2011 Sep 21 doi: 10.1038/ejhg.2011.181. PMID: 21934706Free PMC Article
Whitington PF, Whitington GL
Gastroenterology 1988 Jul;95(1):130-6. doi: 10.1016/0016-5085(88)90301-0. PMID: 3371608
Markowitz J, Daum F, Kahn EI, Schneider KM, So HB, Altman RP, Aiges HW, Alperstein G, Silverberg M
Hepatology 1983 Jan-Feb;3(1):74-6. doi: 10.1002/hep.1840030112. PMID: 6822377

Curated

Leonard LD, Chao G, Baker A, Loomes K, Spinner NB
Eur J Hum Genet 2014 Mar;22(3) Epub 2013 Jul 24 doi: 10.1038/ejhg.2013.140. PMID: 23881058Free PMC Article

Recent clinical studies

Etiology

Kahn E
Pediatr Dev Pathol 2004 Mar-Apr;7(2):109-24. Epub 2004 Mar 4 doi: 10.1007/s10024-003-0307-y. PMID: 14994122
Schwarzenberg SJ, Grothe RM, Sharp HL, Snover DC, Freese D
Am J Med 1992 Aug;93(2):171-6. doi: 10.1016/0002-9343(92)90047-f. PMID: 1497013
Witzleben CL, Finegold M, Piccoli DA, Treem WR
Hepatology 1987 Nov-Dec;7(6):1262-6. doi: 10.1002/hep.1840070614. PMID: 3679090
Dahms BB, Petrelli M, Wyllie R, Henoch MS, Halpin TC, Morrison S, Park MC, Tavill AS
Hepatology 1982 May-Jun;2(3):350-8. doi: 10.1002/hep.1840020311. PMID: 7076119
Riely CA
Yale J Biol Med 1979 Jan-Feb;52(1):89-98. PMID: 452627Free PMC Article

Diagnosis

Turnpenny PD, Ellard S
Eur J Hum Genet 2012 Mar;20(3):251-7. Epub 2011 Sep 21 doi: 10.1038/ejhg.2011.181. PMID: 21934706Free PMC Article
Kahn E
Pediatr Dev Pathol 2004 Mar-Apr;7(2):109-24. Epub 2004 Mar 4 doi: 10.1007/s10024-003-0307-y. PMID: 14994122
Crosnier C, Lykavieris P, Meunier-Rotival M, Hadchouel M
Clin Liver Dis 2000 Nov;4(4):765-78. doi: 10.1016/s1089-3261(05)70140-9. PMID: 11232356
Krantz ID, Piccoli DA, Spinner NB
J Med Genet 1997 Feb;34(2):152-7. doi: 10.1136/jmg.34.2.152. PMID: 9039994Free PMC Article
Mueller RF
J Med Genet 1987 Oct;24(10):621-6. doi: 10.1136/jmg.24.10.621. PMID: 3119852Free PMC Article

Therapy

Gadkari R, Doshi B, Nayak C, Ghildiyal R, Madke B, Ghia D
Pediatr Dermatol 2014 Sep-Oct;31(5):599-602. doi: 10.1111/pde.12132. PMID: 25333075
Buckley DA, Higgins EM, du Vivier AW
Pediatr Dermatol 1998 May-Jun;15(3):199-202. doi: 10.1046/j.1525-1470.1998.1998015199.x. PMID: 9655315
Kay MH, Wyllie R, Steffen RM
Clin Pediatr (Phila) 1996 Nov;35(11):593-6. doi: 10.1177/000992289603501106. PMID: 8953135
Marino IR, ChapChap P, Esquivel CO, Zetti G, Carone E, Borland L, Tzakis AG, Todo S, Rowe MI, Starzl TE
Transpl Int 1992 May;5(2):61-4. doi: 10.1007/BF00339217. PMID: 1627241Free PMC Article
Schwarzenberg SJ, Grothe RM, Sharp HL, Snover DC, Freese D
Am J Med 1992 Aug;93(2):171-6. doi: 10.1016/0002-9343(92)90047-f. PMID: 1497013

Prognosis

Crosnier C, Lykavieris P, Meunier-Rotival M, Hadchouel M
Clin Liver Dis 2000 Nov;4(4):765-78. doi: 10.1016/s1089-3261(05)70140-9. PMID: 11232356
MacMillan JC, Shepherd R, Heritage M
Baillieres Clin Gastroenterol 1998 Jun;12(2):275-91. doi: 10.1016/s0950-3528(98)90135-x. PMID: 9890073
Schwarzenberg SJ, Grothe RM, Sharp HL, Snover DC, Freese D
Am J Med 1992 Aug;93(2):171-6. doi: 10.1016/0002-9343(92)90047-f. PMID: 1497013
Kahn E
Perspect Pediatr Pathol 1991;14:168-215. PMID: 2038547
Puklin JE, Riely CA, Simon RM, Cotlier E
Ophthalmology 1981 Apr;88(4):337-47. doi: 10.1016/s0161-6420(81)35026-x. PMID: 7254780

Clinical prediction guides

Gröne EF, Walli AK, Gröne HJ, Miller B, Seidel D
Atherosclerosis 1994 May;107(1):1-13. doi: 10.1016/0021-9150(94)90136-8. PMID: 7945552
Alagille D, Estrada A, Hadchouel M, Gautier M, Odièvre M, Dommergues JP
J Pediatr 1987 Feb;110(2):195-200. doi: 10.1016/s0022-3476(87)80153-1. PMID: 3806290
Witzleben CL, Finegold M, Piccoli DA, Treem WR
Hepatology 1987 Nov-Dec;7(6):1262-6. doi: 10.1002/hep.1840070614. PMID: 3679090
Habib R, Dommergues JP, Gubler MC, Hadchouel M, Gautier M, Odievre M, Alagille D
Pediatr Nephrol 1987 Jul;1(3):455-64. doi: 10.1007/BF00849254. PMID: 3153318
Kahn EI, Daum F, Markowitz J, Aiges HW, Schneider KM, So HB, Altman P, Chandra RS, Silverberg M
Hepatology 1983 Jan-Feb;3(1):77-84. doi: 10.1002/hep.1840030113. PMID: 6822378

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