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Alagille syndrome

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39: 200: 188: 99:. Problems associated with the disorder generally become evident in infancy or early childhood. The disorder is inherited in an autosomal dominant pattern, and the estimated prevalence of Alagille syndrome is 1 in every 30,000 to 1 in every 40,000 live births. It is named after the French pediatrician 394:
gene, there have been reports of a rare, autosomal recessive version of the disease. In the autosomal recessive case, the ALGS patient must inherit two mutated genes: one from each parent. Although about 40% of the mutations are inherited from affected parents, most cases result from new, acquired
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pigment changes are also common. These anomalies can be beneficial in diagnosing Alagille syndrome. Many people with ALGS have similar facial features, including a broad, prominent forehead, deep-set eyes, and a small pointed chin. While these distinct facial features are often presented in ALGS
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Alagille syndrome can be extremely difficult to diagnose. While people are born with ALGS, it is almost always diagnosed later during childhood. The diagnosis can be difficult because the severity of the disease varies widely among patients. Some common clinical tests that are run in order to
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encodes for a surface-binding ligand that regulates the notch signaling pathway. It plays a crucial role in cell signaling during embryonic development. If the pathway is disrupted due to mutations, an infant will not develop properly. Alagille syndrome causes bile duct paucity, which is
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can be detected with an x-ray, but there typically are no symptoms from this abnormality. Other skeletal defects common in ALGS patients are spina bifida and the fusion of vertebrae. Most of the ophthalmological defects affect the
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Alagille D, Odièvre M, Gautier M, Dommergues JP (January 1975). "Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur".
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characterized by narrow and malformed bile ducts. Bile duct paucity causes bile to build up in the liver, resulting in scarring of the liver which hinders the liver's normal functions, like blood filtration and drug metabolism.
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mutations. These are caused by environmental factors that mutate one copy of the gene. Environmental factors that can result in gene mutations may include radiation such as ultraviolet rays from the sun, or chemicals such as
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Ohashi K, Togawa T, Sugiura T, Ito K, Endo T, Aoyama K, et al. (November 2017). "Combined genetic analyses can achieve efficient diagnostic yields for subjects with Alagille syndrome and incomplete Alagille syndrome".
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in the early postnatal period, whereas this operation would make Alagille syndrome worse. Indirect features on ultrasound of biliary atresia include abnormal and diminutive gallbladder shape, the triangular cord sign, and
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Abdel Razek A, Abdalla A, Elfar R, Ashmalla GA, Ali K, Barakat T (December 2020). "Assessment of Diffusion Tensor Imaging Parameters of Hepatic Parenchyma for Differentiation of Biliary Atresia from Alagille Syndrome".
264:. So while these facial characteristics are extremely common in ALGS patients, it is because many patients experience extreme liver complications or liver failure, but it is not caused by the disease itself. The 1710: 1690: 454:, and the characteristic facial features discussed above (deep set eyes, broad brow, etc.), they are likely to be diagnosed with Alagille syndrome. A more calculated and specific diagnosis can be done with 115:. It is uncommon, but Alagille syndrome can be a life-threatening disease with a mortality rate of 10%. The majority of deaths from ALGS are typically due to heart complications or chronic liver failure. 1803: 1796: 494:
Early treatment is possible once the disease is diagnosed. Treatments of Alagille syndrome typically involve medications, therapies, and/or surgical procedures. All treatments aim to improve
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excretion from the liver, reduce pain caused by the disease, and help improve nutritional deficiencies. Diet can also be a crucial factor in improving quality of life when living with ALGS.
545:, D, E, and K supplements because the reduced bile flow makes it difficult to absorb and utilize these vitamins. A high-calorie diet is very important, and often requires a 111:
The severity of the disorder can vary within the same family, with symptoms ranging from so mild as to go unnoticed, to severe heart and/or liver disease that requires
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caused by poor bile flow in patients with bile duct paucity. A portion of the bile produced by the liver is directed through a surgically created
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Ayoub MD, Kamath BM (August 2022). "Alagille Syndrome: Current Understanding of Pathogenesis, and Challenges in Diagnosis and Management".
1978: 159:). Bile duct paucity results in the reduced absorption of fat and fat-soluble vitamins (A, D, E and K), which may lead to rickets or a 2418: 1509: 563:
Surgery is common in more severe cases on Alagille syndrome, especially for patients with liver disease or end-stage liver failure.
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into a plastic pouch on the patient's lower right abdomen. The pouch is periodically drained as it fills with bile. Patients with
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patients, the features are presumably not due to Alagille syndrome, but they are characteristic of patients with intrahepatic
103:, who first described the condition in 1969. Children with Alagille syndrome live to the age of 18 in about 90% of the cases. 2332: 1028:
Sokol RJ, Heubi JE, Balistreri WF (August 1983). "Intrahepatic "cholestasis facies": is it specific for Alagille syndrome?".
1831: 1662: 2200: 1725: 1601: 1547: 510:(Actigall or Urso). These medications differ in their rates of success. Certain drugs may be used to reduce itching ( 567:
can either be a complete liver transplant from a deceased organ donor, or a partial transplant from a living donor.
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Signs and symptoms arising from liver damage in Alagille syndrome may include a yellowish tinge in the
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are much less likely to cause Alagille syndrome, but the primary type of ALGS-causing mutation in
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to detect liver disease or any precursors. If a patient presents with multiple symptoms such as
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Kamath BM, Bauer RC, Loomes KM, Chao G, Gerfen J, Hutchinson A, et al. (February 2012).
979:"Encyclopaedia of tumour-associated familial disorders. Part I: from AIMAH to CHIME syndrome" 564: 531: 252: 176: 378:
pattern, which means one copy of the altered gene is sufficient to cause the disorder. The "
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diagnose the disease include vertebral x-rays, heart exams to detect any defects such as a
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to improve bile drainage; however, later liver transplantation is still often necessary.
243: 235: 2307: 775: 750: 316:(Notch homolog 2). In the majority of people with ALGS, the gene mutation occurs in the 2100: 2087: 1995: 1908: 1895: 1719: 1703: 1631: 1596: 1357: 1274: 1185: 1160: 1141: 1089: 1064: 1005: 978: 954: 929: 882: 858:"Systematic Review: The Epidemiology, Natural History, and Burden of Alagille Syndrome" 857: 391: 375: 191:
Tetralogy of Fallot is a common heart defect experienced in Alagille syndrome patients.
139:), an enlarged liver (hepatomegaly), an enlarged spleen (splenomegaly) and deposits of 1112:
Oda T, Elkahloun AG, Pike BL, Okajima K, Krantz ID, Genin A, et al. (July 1997).
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Contemporary Liver Transplantation : The Successful Liver Transplant Program
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Vajro P, Ferrante L, Paolella G (June 2012). "Alagille syndrome: an overview".
1080: 766: 701: 515: 483: 387: 359: 1699: 1557: 1262: 696: 674: 636: 2367: 2150: 1964: 1938: 1873: 1848: 1622: 1466: 995: 538: 168: 2022: 1878: 1640: 1474: 1442: 1397: 1353: 1270: 1232: 1194: 1114:"Mutations in the human Jagged1 gene are responsible for Alagille syndrome" 1098: 1014: 891: 842: 784: 682: 644: 451: 443: 439: 155:(bile duct paucity) or, in some cases, the complete absence of bile ducts ( 148: 1614: 1389: 1137: 1049: 963: 38: 1883: 1844: 945: 735: 552: 546: 140: 1682: 199: 179:
has been reported in a small number of cases, but it is extremely rare.
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Mitchell E, Gilbert M, Loomes KM (November 2018). "Alagille Syndrome".
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Mitchell E, Gilbert M, Loomes KM (November 2018). "Alagille Syndrome".
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Ayoub MD, Bakhsh AA, Vandriel SM, Keitel V, Kamath BM (October 2023).
187: 2120: 1987: 1771: 542: 386:, which is one of the 44 chromosomes in the human body that is not a 289: 239: 164: 152: 144: 2178: 1113: 579: 575: 571: 527: 523: 511: 507: 447: 390:(chromosome X or Y). Although the majority of cases are due to the 383: 379: 171:
is fairly common among ALGS patients, and 15% of those with severe
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Kamath BM, Baker A, Houwen R, Todorova L, Kerkar N (August 2018).
382:" aspect of the disease means that the gene mutation occurs in an 396: 172: 136: 1730: 910:
National Institute of Diabetes and Digestive and Kidney Diseases
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Partial biliary diversion has been used to significantly reduce
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issues which often hinders normal growth. Patients benefit from
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enlargement, though these can overlap with Alagille syndrome.
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Alagille syndrome is inherited in an autosomal dominant manner
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Lahey Hospital & Medical Center, Burlington & Peabody
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Many patients with Alagille syndrome have nutritional and/or
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Several medications are used to improve bile flow, including
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Alagille–Watson syndrome (ALGS), hepatic ductular hypoplasia
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Clinics and Research in Hepatology and Gastroenterology
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ALGS is caused by loss of function mutations in either
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It is important to distinguish Alagille syndrome from
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Journal of Pediatric Gastroenterology and Nutrition
828: 234:Other presentations of Alagille's syndrome include 2357:This article incorporates public domain text from 1658:GeneReviews/NCBI/UW/NIH entry on Alagille syndrome 1481: 916: 2365: 1201: 468:Multiplex ligation-dependent probe amplification 1594: 1314:"Alagille Syndrome - Diagnosis & Treatment" 837:. Treasure Island (FL): StatPearls Publishing. 1914:Tracheoesophageal fistula: types B, C, D and E 1065:"Extreme Renal Pathology in Alagille Syndrome" 268:may also be affected because the mutations in 2194: 1804: 1244: 1242: 1063:Bissonnette ML, Lane JC, Chang A (May 2017). 906:"Symptoms & Causes for Alagille Syndrome" 751:"Management of adults with Alagille syndrome" 604:Progressive familial intrahepatic cholestasis 242:defects, and distinct facial structures. The 2394:Syndromes affecting the hepatobiliary system 1152: 868:(2). J Pediatr Gastroenterol Nutr: 148–156. 418:encode for proteins that are crucial to the 1105: 970: 660: 328:mutation is either intragenic and found on 175:manifestations require a liver transplant. 2201: 2187: 1811: 1797: 1423:. University of California - San Francisco 1239: 549:tube to maintain the high caloric intake. 37: 1630: 1184: 1088: 1004: 994: 953: 881: 774: 706: 332:20p12, or it is a deletion of the entire 2399:Congenital disorders of digestive system 1909:Esophageal atresia: types A, B, C, and D 186: 1161:"NOTCH2 mutations in Alagille syndrome" 976: 374:. Alagille syndrome is inherited in an 2366: 1440: 983:Hereditary Cancer in Clinical Practice 2359:The U.S. National Library of Medicine 2333:Autosomal recessive polycystic kidney 2208: 2182: 1792: 1595:Turnpenny PD, Ellard S (March 2012). 1537: 1411: 1409: 1407: 1308: 1306: 798: 796: 794: 522:. While these medications can reduce 399:, which is found in cigarette smoke. 106: 1498:. U.S. Food and Drug Administration. 1299:. U.S. National Library of Medicine. 656: 654: 194: 2374:Accessory digestive gland disorders 829:Diaz-Frias J, Kondamudi NP (2019). 810:. U.S. National Library of Medicine 477:because the latter benefits from a 13: 1822:malformations and deformations of 1602:European Journal of Human Genetics 1404: 1303: 791: 402: 14: 2435: 1663:OMIM entries on Alagille syndrome 1651: 1510:"Maralixibat: FDA-Approved Drugs" 651: 2419:Diseases named after discoverers 1443:"Alagille Syndrome: An Overview" 466:(SNPs) in the affected gene(s). 198: 2237:Asphyxiating thoracic dysplasia 1588: 1564: 1538:Doria C (2016). Doria C (ed.). 1531: 1502: 1434: 1368: 1324: 1285: 1056: 1021: 464:single nucleotide polymorphisms 249:anterior chamber of the eyeball 1668:MedlinePlus: Alagille syndrome 898: 849: 822: 742: 689: 616: 1: 2409:Syndromes affecting the heart 1177:10.1136/jmedgenet-2011-100544 1042:10.1016/s0022-3476(83)80345-x 728:10.1016/S0022-3476(75)80706-2 609: 501: 1516:Food and Drug Administration 1225:10.1016/j.clinre.2012.03.019 1069:Kidney International Reports 977:Sijmons RH (February 2008). 874:10.1097/MPG.0000000000001958 489: 432: 420:notch gene–signaling cascade 127:and the whites of the eyes ( 7: 1378:Korean journal of radiology 1165:Journal of Medical Genetics 934:Journal of Medical Genetics 597: 299: 292:caused by the hindrance of 91:that affects primarily the 10: 2440: 2323:Orofaciodigital syndrome 1 2313:Primary ciliary dyskinesia 2106:Johanson–Blizzard syndrome 1496:Mirum Pharmaceuticals, Inc 1459:10.1891/0730-0832.36.6.343 1318:Boston Children's Hospital 1081:10.1016/j.ekir.2016.11.002 767:10.1007/s12072-023-10578-x 558: 462:can be utilized to detect 460:Next-generation sequencing 2341: 2328:McKusick–Kaufman syndrome 2300: 2284: 2227:Polycystic kidney disease 2216: 2149: 2119: 2086: 2077: 2036: 1986: 1977: 1950: 1894: 1839: 1830: 1762: 1676: 1263:10.1016/j.cld.2018.06.001 1030:The Journal of Pediatrics 716:The Journal of Pediatrics 675:10.1016/j.cld.2022.03.002 637:10.1016/j.cld.2018.06.001 370:that codes for the wrong 262:cholestatic liver disease 70: 50: 45: 36: 28: 23: 2164:Polycystic liver disease 2028:Enteric duplication cyst 1257:(4). Springer: 625–641. 1251:Clinics in Liver Disease 996:10.1186/1897-4287-6-1-22 755:Hepatology International 663:Clinics in Liver Disease 625:Clinics in Liver Disease 255:and Rieger anomaly, but 229: 182: 118: 2404:Cardiogenetic disorders 2055:Rectovestibular fistula 1441:Jesina D (2017-11-01). 1297:Genetics Home Reference 808:Genetics Home Reference 2018:Intestinal malrotation 2013:Hirschsprung's disease 1921:Esophageal inlet patch 1862:Van der Woude syndrome 207:This section is empty. 192: 2414:Syndromes with tumors 2318:Senior–Løken syndrome 2250:Bardet–Biedl syndrome 2008:Meckel's diverticulum 1615:10.1038/ejhg.2011.181 1421:Department of Surgery 1390:10.3348/kjr.2019.0824 366:, which results in a 190: 177:Hepatocellular cancer 151:may indicate too few 1857:Cleft lip and palate 946:10.1136/jmg.34.2.152 1417:"Alagille Syndrome" 930:"Alagille syndrome" 831:"Alagille Syndrome" 804:"Alagille syndrome" 338:gene. Mutations in 244:butterfly vertebrae 236:butterfly vertebrae 2101:Accessory pancreas 1996:Intestinal atresia 1763:External resources 1130:10.1038/ng0797-235 392:autosomal dominant 376:autosomal dominant 253:Axenfeld's anomaly 193: 107:Signs and symptoms 2353: 2352: 2210:Diseases of cilia 2176: 2175: 2172: 2171: 2159:Alagille syndrome 2129:Choledochal cysts 2073: 2072: 2060:Persistent cloaca 1973: 1972: 1786: 1785: 1384:(12): 1367–1373. 1346:10.1111/apa.13981 1340:(11): 1817–1824. 565:Liver transplants 362:that changes one 356:missense mutation 352:missense mutation 227: 226: 161:failure to thrive 85:Alagille syndrome 82: 81: 24:Alagille syndrome 18:Medical condition 2431: 2346:ciliary proteins 2308:Alström syndrome 2292:Nephronophthisis 2276:Joubert syndrome 2203: 2196: 2189: 2180: 2179: 2111:Pancreas divisum 2096:Annular pancreas 2084: 2083: 2050:Imperforate anus 2001:Duodenal atresia 1984: 1983: 1960:Pyloric stenosis 1928:esophageal rings 1837: 1836: 1824:digestive system 1813: 1806: 1799: 1790: 1789: 1674: 1673: 1645: 1644: 1634: 1592: 1586: 1585: 1583: 1582: 1568: 1562: 1561: 1535: 1529: 1528: 1526: 1524: 1506: 1500: 1499: 1493: 1485: 1479: 1478: 1447:Neonatal Network 1438: 1432: 1431: 1429: 1428: 1413: 1402: 1401: 1372: 1366: 1365: 1334:Acta Paediatrica 1328: 1322: 1321: 1310: 1301: 1300: 1289: 1283: 1282: 1246: 1237: 1236: 1208: 1199: 1198: 1188: 1156: 1150: 1149: 1109: 1103: 1102: 1092: 1060: 1054: 1053: 1025: 1019: 1018: 1008: 998: 974: 968: 967: 957: 925: 914: 913: 902: 896: 895: 885: 853: 847: 846: 826: 820: 819: 817: 815: 800: 789: 788: 778: 761:(5): 1098–1112. 746: 740: 739: 710: 704: 693: 687: 686: 658: 649: 648: 620: 532:liver transplant 422:. Specifically, 294:lipid metabolism 286:proximal tubules 222: 219: 209:You can help by 202: 195: 135:), pale stools ( 89:genetic disorder 61:Gastroenterology 57:Medical genetics 41: 21: 20: 2439: 2438: 2434: 2433: 2432: 2430: 2429: 2428: 2364: 2363: 2354: 2349: 2337: 2301:Other/ungrouped 2296: 2280: 2263:Meckel syndrome 2258:mitotic spindle 2212: 2207: 2177: 2168: 2145: 2141:Biliary atresia 2115: 2069: 2032: 1969: 1946: 1890: 1826: 1817: 1787: 1782: 1781: 1758: 1757: 1685: 1654: 1649: 1648: 1593: 1589: 1580: 1578: 1570: 1569: 1565: 1550: 1536: 1532: 1522: 1520: 1508: 1507: 1503: 1491: 1487: 1486: 1482: 1439: 1435: 1426: 1424: 1415: 1414: 1405: 1373: 1369: 1329: 1325: 1312: 1311: 1304: 1291: 1290: 1286: 1247: 1240: 1209: 1202: 1157: 1153: 1118:Nature Genetics 1110: 1106: 1061: 1057: 1026: 1022: 975: 971: 926: 917: 904: 903: 899: 854: 850: 827: 823: 813: 811: 802: 801: 792: 747: 743: 711: 707: 694: 690: 659: 652: 621: 617: 612: 600: 592:Kasai procedure 588:biliary atresia 561: 504: 492: 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mutation 301: 298: 280:often lead to 231: 228: 225: 224: 205: 203: 184: 181: 120: 117: 108: 105: 80: 79: 74: 68: 67: 54: 48: 47: 43: 42: 34: 33: 30: 26: 25: 17: 9: 6: 4: 3: 2: 2436: 2425: 2422: 2420: 2417: 2415: 2412: 2410: 2407: 2405: 2402: 2400: 2397: 2395: 2392: 2390: 2387: 2385: 2382: 2380: 2377: 2375: 2372: 2371: 2369: 2362: 2361: 2360: 2348: 2347: 2340: 2334: 2331: 2329: 2326: 2324: 2321: 2319: 2316: 2314: 2311: 2309: 2306: 2305: 2303: 2299: 2293: 2290: 2289: 2287: 2283: 2277: 2273: 2272: 2268: 2267: 2264: 2261: 2259: 2255: 2254: 2251: 2247: 2246: 2242: 2241: 2238: 2235: 2232: 2231: 2228: 2225: 2222: 2221: 2219: 2215: 2211: 2204: 2199: 2197: 2192: 2190: 2185: 2184: 2181: 2165: 2162: 2160: 2157: 2156: 2154: 2152: 2148: 2142: 2139: 2135: 2132: 2131: 2130: 2127: 2126: 2124: 2122: 2118: 2112: 2109: 2107: 2104: 2102: 2099: 2097: 2094: 2093: 2091: 2089: 2085: 2082: 2080: 2076: 2066: 2063: 2061: 2058: 2056: 2053: 2051: 2048: 2047: 2045: 2043: 2039: 2035: 2029: 2026: 2024: 2021: 2019: 2016: 2014: 2011: 2009: 2006: 2002: 1999: 1998: 1997: 1994: 1993: 1991: 1989: 1985: 1982: 1980: 1976: 1966: 1965:Hiatus hernia 1963: 1961: 1958: 1957: 1955: 1953: 1949: 1940: 1939:Schatzki ring 1937: 1934: 1931: 1930: 1929: 1926: 1925: 1922: 1919: 1915: 1912: 1910: 1907: 1906: 1905: 1902: 1901: 1899: 1897: 1893: 1885: 1882: 1880: 1877: 1875: 1874:Ankyloglossia 1872: 1871: 1870: 1869: 1865: 1863: 1860: 1858: 1855: 1854: 1852: 1850: 1846: 1842: 1838: 1835: 1833: 1829: 1825: 1821: 1814: 1809: 1807: 1802: 1800: 1795: 1794: 1791: 1778: 1774: 1773: 1769: 1768: 1765: 1761: 1754: 1750: 1749: 1745: 1743: 1739: 1738: 1734: 1732: 1728: 1727: 1723: 1721: 1717: 1716: 1712: 1708: 1705: 1701: 1697: 1696: 1692: 1688: 1687: 1684: 1679: 1675: 1669: 1666: 1664: 1661: 1659: 1656: 1655: 1642: 1638: 1633: 1628: 1624: 1620: 1616: 1612: 1608: 1604: 1603: 1598: 1591: 1577: 1573: 1567: 1559: 1555: 1551: 1549:9783319055435 1545: 1541: 1534: 1519: 1517: 1511: 1505: 1497: 1490: 1484: 1476: 1472: 1468: 1464: 1460: 1456: 1452: 1448: 1444: 1437: 1422: 1418: 1412: 1410: 1408: 1399: 1395: 1391: 1387: 1383: 1379: 1371: 1363: 1359: 1355: 1351: 1347: 1343: 1339: 1335: 1327: 1319: 1315: 1309: 1307: 1298: 1294: 1288: 1280: 1276: 1272: 1268: 1264: 1260: 1256: 1252: 1245: 1243: 1234: 1230: 1226: 1222: 1218: 1214: 1207: 1205: 1196: 1192: 1187: 1182: 1178: 1174: 1170: 1166: 1162: 1155: 1147: 1143: 1139: 1135: 1131: 1127: 1123: 1119: 1115: 1108: 1100: 1096: 1091: 1086: 1082: 1078: 1074: 1070: 1066: 1059: 1051: 1047: 1043: 1039: 1035: 1031: 1024: 1016: 1012: 1007: 1002: 997: 992: 988: 984: 980: 973: 965: 961: 956: 951: 947: 943: 939: 935: 931: 924: 922: 920: 911: 907: 901: 893: 889: 884: 879: 875: 871: 867: 863: 859: 852: 844: 840: 836: 832: 825: 809: 805: 799: 797: 795: 786: 782: 777: 772: 768: 764: 760: 756: 752: 745: 737: 733: 729: 725: 721: 717: 709: 703: 702:Who Named It? 699: 698: 692: 684: 680: 676: 672: 668: 664: 657: 655: 646: 642: 638: 634: 630: 626: 619: 615: 605: 602: 601: 595: 593: 589: 585: 581: 577: 573: 568: 566: 556: 554: 550: 548: 544: 540: 539:malabsorption 535: 533: 529: 525: 521: 517: 513: 509: 499: 497: 487: 485: 480: 476: 471: 469: 465: 461: 457: 453: 449: 445: 441: 430: 427: 426: 421: 417: 416: 411: 410: 400: 398: 393: 389: 385: 381: 377: 373: 369: 365: 361: 357: 353: 349: 348: 343: 342: 337: 336: 331: 327: 326: 321: 320: 315: 314: 310:(Jagged1) or 309: 308: 297: 295: 291: 287: 283: 279: 278: 273: 272: 267: 263: 258: 254: 250: 245: 241: 237: 221: 212: 208: 204: 201: 197: 196: 189: 180: 178: 174: 170: 169:liver failure 167:and eventual 166: 162: 158: 154: 150: 146: 143:in the skin ( 142: 138: 134: 130: 126: 116: 114: 104: 102: 98: 94: 90: 86: 78: 75: 73: 69: 66: 62: 58: 55: 53: 49: 44: 40: 35: 31: 27: 22: 16: 2356: 2355: 2343: 2269: 2256: 2243: 2233: 2223: 2158: 2023:Dolichocolon 1927: 1903: 1879:Macroglossia 1866: 1770: 1746: 1735: 1724: 1709: 1689: 1606: 1600: 1590: 1579:. Retrieved 1575: 1566: 1542:. Springer. 1539: 1533: 1523:29 September 1521:. Retrieved 1513: 1504: 1495: 1483: 1450: 1446: 1436: 1425:. Retrieved 1420: 1381: 1377: 1370: 1337: 1333: 1326: 1317: 1296: 1287: 1254: 1250: 1216: 1212: 1168: 1164: 1154: 1121: 1117: 1107: 1072: 1068: 1058: 1033: 1029: 1023: 989:(1): 22–57. 986: 982: 972: 937: 933: 909: 900: 865: 861: 851: 834: 824: 812:. Retrieved 807: 758: 754: 744: 722:(1): 63–71. 719: 715: 708: 695: 691: 666: 662: 628: 624: 618: 569: 562: 551: 536: 505: 493: 472: 452:heart murmur 444:liver biopsy 440:heart murmur 436: 423: 413: 407: 406: 345: 339: 333: 323: 317: 311: 305: 303: 275: 269: 251:, including 233: 215: 211:adding to it 206: 149:liver biopsy 131:), itching ( 122: 110: 87:(ALGS) is a 84: 83: 15: 1884:Hypoglossia 835:StatPearls 553:Maralixibat 547:gastrostomy 514:), such as 322:gene. The 284:, deformed 141:cholesterol 72:Named after 29:Other names 2424:Disability 2384:Hepatology 2379:Ciliopathy 2368:Categories 2344:See also: 2271:centrosome 2245:basal body 2217:Structural 2042:anal canal 1988:Intestines 1820:Congenital 1748:DiseasesDB 1581:2019-10-08 1558:1111825084 1427:2019-10-08 814:31 October 610:References 502:Medication 372:amino acid 364:nucleotide 330:chromosome 240:ophthalmic 153:bile ducts 65:Cardiology 2285:Signaling 2224:receptor: 2121:Bile duct 2079:Accessory 1896:Esophagus 1772:eMedicine 1623:1476-5438 1467:1539-2880 543:vitamin A 490:Treatment 433:Diagnosis 380:autosomal 290:lipidosis 218:July 2024 165:Cirrhosis 145:xanthomas 52:Specialty 2088:Pancreas 1641:21934706 1475:29185945 1398:32729270 1362:24604635 1354:28695677 1279:52883591 1271:30266153 1233:22521120 1195:22209762 1099:29318215 1015:19706204 892:29543694 843:29939604 785:37584849 776:10522532 697:synd/729 683:35868679 645:30266153 598:See also 580:xanthoma 576:jaundice 572:pruritus 528:ursodiol 524:pruritus 520:rifampin 512:pruritus 508:ursodiol 448:jaundice 442:, and a 384:autosome 300:Genetics 133:pruritus 129:jaundice 95:and the 1952:Stomach 1941:(lower) 1935:(upper) 1849:pharynx 1742:D016738 1706:Q44.71) 1704:EUROCAT 1632:3283172 1186:3682659 1146:5775213 1138:9207787 1090:5720621 1050:6875709 1006:2735164 964:9039994 955:1050871 883:6110620 559:Surgery 397:benzene 266:kidneys 173:hepatic 137:acholia 2234:cargo: 2038:Rectum 1904:EA/TEF 1868:tongue 1841:Tongue 1777:ped/60 1731:118450 1720:759.89 1639:  1629:  1621:  1556:  1546:  1473:  1465:  1396:  1360:  1352:  1277:  1269:  1231:  1193:  1183:  1144:  1136:  1097:  1087:  1048:  1013:  1003:  962:  952:  890:  880:  841:  783:  773:  736:803282 734:  681:  643:  578:, and 415:NOTCH2 347:NOTCH2 341:NOTCH2 313:NOTCH2 277:NOTCH2 257:retina 2151:Liver 1845:mouth 1753:29085 1700:Q44.7 1518:(FDA) 1514:U.S. 1492:(PDF) 1358:S2CID 1275:S2CID 1142:S2CID 584:stoma 368:codon 358:is a 350:is a 288:, or 230:Other 183:Heart 147:). A 119:Liver 97:heart 93:liver 1847:and 1737:MeSH 1726:OMIM 1715:9-CM 1637:PMID 1619:ISSN 1554:OCLC 1544:ISBN 1525:2021 1471:PMID 1463:ISSN 1394:PMID 1350:PMID 1267:PMID 1229:PMID 1191:PMID 1134:PMID 1095:PMID 1046:PMID 1011:PMID 960:PMID 888:PMID 839:PMID 816:2016 781:PMID 732:PMID 679:PMID 641:PMID 518:and 496:bile 425:JAG1 412:and 409:JAG1 354:. A 335:JAG1 325:JAG1 319:JAG1 307:JAG1 274:and 271:JAG1 125:skin 1711:ICD 1691:ICD 1627:PMC 1611:doi 1455:doi 1386:doi 1342:doi 1338:106 1259:doi 1221:doi 1181:PMC 1173:doi 1126:doi 1085:PMC 1077:doi 1038:doi 1034:103 1001:PMC 991:doi 950:PMC 942:doi 878:PMC 870:doi 771:PMC 763:doi 724:doi 700:at 671:doi 633:doi 530:or 213:. 2370:: 2274:: 2248:: 1843:, 1775:: 1751:: 1740:: 1729:: 1718:: 1698:: 1695:10 1635:. 1625:. 1617:. 1607:20 1605:. 1599:. 1574:. 1552:. 1512:. 1494:. 1469:. 1461:. 1451:36 1449:. 1445:. 1419:. 1406:^ 1392:. 1382:21 1380:. 1356:. 1348:. 1336:. 1316:. 1305:^ 1295:. 1273:. 1265:. 1255:22 1253:. 1241:^ 1227:. 1217:36 1215:. 1203:^ 1189:. 1179:. 1169:49 1167:. 1163:. 1140:. 1132:. 1122:16 1120:. 1116:. 1093:. 1083:. 1071:. 1067:. 1044:. 1032:. 1009:. 999:. 985:. 981:. 958:. 948:. 938:34 936:. 932:. 918:^ 908:. 886:. 876:. 866:67 864:. 860:. 833:. 806:. 793:^ 779:. 769:. 759:17 757:. 753:. 730:. 720:86 718:. 677:. 667:26 665:. 653:^ 639:. 629:22 627:. 574:, 534:. 458:. 450:, 296:. 238:, 163:. 63:, 59:, 2260:: 2202:e 2195:t 2188:v 2040:/ 1812:e 1805:t 1798:v 1713:- 1702:( 1693:- 1683:D 1643:. 1613:: 1584:. 1560:. 1527:. 1477:. 1457:: 1430:. 1400:. 1388:: 1364:. 1344:: 1320:. 1281:. 1261:: 1235:. 1223:: 1197:. 1175:: 1148:. 1128:: 1101:. 1079:: 1073:2 1052:. 1040:: 1017:. 993:: 987:6 966:. 944:: 912:. 894:. 872:: 845:. 818:. 787:. 765:: 738:. 726:: 685:. 673:: 647:. 635:: 220:) 216:(

Index


Specialty
Medical genetics
Gastroenterology
Cardiology
Named after
Daniel Alagille
genetic disorder
liver
heart
Daniel Alagille
transplantation
skin
jaundice
pruritus
acholia
cholesterol
xanthomas
liver biopsy
bile ducts
biliary atresia
failure to thrive
Cirrhosis
liver failure
hepatic
Hepatocellular cancer


adding to it
butterfly vertebrae

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