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
259:
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
437:
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
428:
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
246:
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
713:
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".
429:
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.
1810:
395:
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
1331:
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".
481:
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
1375:
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
498:
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
2393:
2398:
1313:
2064:
1571:
467:
582:
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
470:(MLPA) can detect large deletions and/or insertions and microarray comparative genomic hybridization is used to improve the accuracy of MLPA.
603:
2373:
661:
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.
586:
into a plastic pouch on the patient's lower right abdomen. The pouch is periodically drained as it fills with bile. Patients with
2408:
905:
260:
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.
2403:
2236:
463:
1788:
2413:
2105:
1488:
2327:
1657:
1515:
2317:
1416:
248:
210:
2322:
2312:
1856:
1667:
459:
123:
Signs and symptoms arising from liver damage in
Alagille syndrome may include a yellowish tinge in the
2345:
2249:
2226:
2078:
2012:
1913:
261:
1292:
2193:
2163:
2027:
2007:
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are much less likely to cause Alagille syndrome, but the primary type of ALGS-causing mutation in
2388:
2054:
419:
446:
to detect liver disease or any precursors. If a patient presents with multiple symptoms such as
2017:
1920:
1861:
1823:
1159:
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 "
438:
diagnose the disease include vertebral x-rays, heart exams to detect any defects such as a
8:
2423:
2383:
2378:
2186:
1819:
1714:
594:
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:
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1089:
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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).
1041:
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355:
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51:
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723:
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632:
293:
112:
88:
60:
56:
1176:
2262:
2257:
2140:
1951:
1818:
1776:
1741:
1540:
Contemporary Liver Transplantation : The Successful Liver Transplant Program
1224:
873:
591:
587:
478:
474:
455:
285:
281:
156:
100:
76:
830:
555:(Livmarli) was approved for medical use in the United States in September 2021.
2133:
1932:
1867:
1752:
1489:"Highlights of prescribing information: LIVMARLITM (maralixibat) oral solution"
1458:
1211:
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:
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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:
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199:
179:
has been reported in a small number of cases, but it is extremely rare.
2270:
2244:
2209:
2041:
1249:
Mitchell E, Gilbert M, Loomes KM (November 2018). "Alagille Syndrome".
1129:
623:
Mitchell E, Gilbert M, Loomes KM (November 2018). "Alagille Syndrome".
519:
371:
363:
329:
64:
1345:
749:
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
132:
128:
856:
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
712:
570:
Partial biliary diversion has been used to significantly reduce
541:
issues which often hinders normal growth. Patients benefit from
2037:
1840:
1694:
1374:
414:
346:
340:
312:
276:
265:
256:
71:
526:, the itching often is reduced when bile flow is improved via
486:
enlargement, though these can overlap with Alagille syndrome.
46:
Alagille syndrome is inherited in an autosomal dominant manner
1576:
Lahey Hospital & Medical Center, Burlington & Peabody
1572:"Donor Requirements & Evaluation - Live Liver Transplant"
583:
537:
Many patients with Alagille syndrome have nutritional and/or
506:
Several medications are used to improve bile flow, including
367:
96:
92:
32:
Alagille–Watson syndrome (ALGS), hepatic ductular hypoplasia
1597:"Alagille syndrome: pathogenesis, diagnosis and management"
495:
424:
408:
334:
324:
318:
306:
270:
124:
2358:
855:
748:
1213:
Clinics and Research in Hepatology and Gastroenterology
1111:
304:
ALGS is caused by loss of function mutations in either
1330:
473:
It is important to distinguish Alagille syndrome from
1293:"What is a gene mutation and how do mutations occur?"
1248:
1210:
1158:
622:
1672:
1062:
1027:
927:
923:
921:
919:
1206:
1204:
928:Krantz ID, Piccoli DA, Spinner NB (February 1997).
862:
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
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1334:Acta Paediatrica
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761:(5): 1098–1112.
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693:
687:
686:
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649:
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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:
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2434:
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2364:
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2337:
2301:Other/ungrouped
2296:
2280:
2263:Meckel syndrome
2258:mitotic spindle
2212:
2207:
2177:
2168:
2145:
2141:Biliary atresia
2115:
2069:
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1969:
1946:
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1118:Nature Genetics
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592:Kasai procedure
588:biliary atresia
561:
504:
492:
479:Kasai procedure
475:biliary atresia
456:genetic testing
435:
405:
403:Pathophysiology
302:
282:renal dysplasia
232:
223:
217:
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185:
157:biliary atresia
121:
113:transplantation
109:
101:Daniel Alagille
77:Daniel Alagille
19:
12:
11:
5:
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2389:Rare syndromes
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2166:
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2134:Caroli disease
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2103:
2098:
2092:
2090:
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2065:Rectal atresia
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2033:
2031:
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2020:
2015:
2010:
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1979:Lower GI tract
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1933:Esophageal web
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1832:Upper GI tract
1828:
1827:
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1677:Classification
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1652:External links
1650:
1647:
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1609:(3): 251–257.
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1453:(6): 343–347.
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1200:
1171:(2): 138–144.
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1124:(3): 235–242.
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1075:(3): 493–497.
1055:
1036:(2): 205–208.
1020:
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940:(2): 152–157.
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897:
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688:
669:(3): 355–370.
650:
631:(4): 625–641.
614:
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611:
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607:
606:
599:
596:
590:may require a
560:
557:
516:cholestyramine
503:
500:
491:
488:
484:hepatic artery
434:
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404:
401:
388:sex chromosome
360:point mutation
301:
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280:often lead to
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1965:Hiatus hernia
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1939:Schatzki ring
1937:
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1874:Ankyloglossia
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702:Who Named It?
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189:
180:
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170:
169:liver failure
167:and eventual
166:
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143:in the skin (
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22:
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2023:Dolichocolon
1927:
1903:
1879:Macroglossia
1866:
1770:
1746:
1735:
1724:
1709:
1689:
1606:
1600:
1590:
1579:. Retrieved
1575:
1566:
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1539:
1533:
1523:29 September
1521:. Retrieved
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986:
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900:
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807:
758:
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744:
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691:
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628:
624:
618:
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536:
505:
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452:heart murmur
444:liver biopsy
440:heart murmur
436:
423:
413:
407:
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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:
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736:803282
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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
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