{"orpha":52,"name":"Alagille syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Alagille-Watson syndrome","Arteriohepatic dysplasia","Syndromic bile duct paucity"],"definition":"A rare developmental disease characterized by the variable association of chronic cholestasis due to paucity of intrahepatic bile ducts, congenital heart disease including pulmonary artery stenosis, butterfly-shaped vertebrae, posterior embryotoxon, characteristic facies, frequent growth retardation, glomerular/tubular kidney disease, and diffuse vascular arterial anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-52/","orphanet_url":"https://www.orpha.net/en/disease/detail/52","names":{"fr":{"name":"Syndrome d'Alagille","synonyms":["Dysplasie artério-hépatique","Paucité des voies biliaires syndromique","Syndrome d'Alagille-Watsons"],"definition":"Anomalie rare du développement caractérisée par l'association variable d'une cholestase chronique due à une paucité des voies biliaires intrahépatiques, une cardiopathie congénitale comprenant une sténose de l'artère pulmonaire, des vertèbres en aile de papillon, un embryotoxon postérieur, une dysmorphie faciale, un retard de croissance fréquent, une néphropathie glomérulaire/tubulaire et des anomalies artérielles et vasculaires diffuses."},"de":{"name":"Alagille-Syndrom","synonyms":["Alagille-Watson-Syndrom","Dysplasie, arteriohepatische","Intrahepatische Gallenganghypoplasie, syndromale Form"]},"es":{"name":"Síndrome de Alagille","synonyms":["Displasia arteriohepática"],"definition":"Es un síndrome poco frecuente variablemente caracterizado por colestasis crónica debido a escasez de conductos biliares intrahepáticos, estenosis arterial pulmonar periférica, anomalías en la segmentación vertebral, facies característica, anomalías en el segmento anterior/embriotoxon posterior, retinosis pigmentaria y riñones displásicos."},"it":{"name":"Sindrome di Alagille","synonyms":["Delezione 20p11.2","Displasia arterioepatica","Ipoplasia dei dotti biliari, forma sindromica"]},"nl":{"name":"Syndroom van Alagille","synonyms":["Arteriohepatische dysplasie","Syndromaal galweggebrek","Syndroom van Alagille-Watson"],"definition":"Een zeldzame ontwikkelingsstoornis, gekenmerkt door de variabele associatie van chronische cholestase door tekort aan intrahepatische galwegen, congenitale hartziekte inclusief stenose van arteria pulmonalis, vlindervormige wervels, posterieur embryotoxon, kenmerkend aangezicht, frequente groeiretardatie, glomerulaire/tubulaire nierziekte, en diffuse vasculaire arteriële anomalieën."},"pt":{"name":"Síndrome Alagille","synonyms":["Displasia arteriohepática","Escassez de ductos biliares, forma sindrómica"]},"pl":{"name":"Zespół Alagille'a","synonyms":["Zespół skąpości dróg żółciowych","Dysplazja tętnic wątrobowych","Zespół Alagille'a i Watsona"],"definition":"Rzadki zespół charakteryzujący się przewlekłą cholestazą spowodowaną zmniejszoną liczbą wewnątrzwątrobowych dróg żółciowych, zwężeniem obwodowych tętnic płucnych, nieprawidłowościami segmentacji kręgów, charakterystyczną twarzą, embriotoksonem tylnym/nieprawidłowościami przedniego odcinka oka, retinopatią barwnikową i dysplazją nerek."},"cs":{"name":"Alagillův syndrom","synonyms":["Arteriohepatická dysplázie","Alagillův-Watsonův syndrom","Syndromická atrézie žlučových cest","Alagille-Watsonův syndrom"]},"uk":{"name":"Синдром Алажіля","synonyms":["Синдром Алагілла-Уотсона","Артеріопечінкова дисплазія","Синдром недостатності жовчних проток"],"definition":"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."},"zh":{"name":"Alagille综合征","synonyms":["综合征性肝胆管缺失"]},"tr":{"name":"Alagille sendromu","synonyms":["Alagille-Watson sendromu","Arteriohepatik displazi","Sendromik safra kanalı yetersizliği"]}},"xrefs":[{"source":"OMIM","code":"118450","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"610205","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q44.7","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LB20.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1249656206"},{"source":"MONDO","code":"0007318","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D016738","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0085280","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"804","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10053870","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":519276,"name":"Anterior segment developmental anomaly with extraocular manifestations","classifications":[147,156,189]},{"orpha":156607,"name":"Genetic biliary tract disease","classifications":[156]},{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":183422,"name":"Polymalformative genetic syndrome with increased risk of developing cancer","classifications":[156,202]},{"orpha":101941,"name":"Rare biliary tract disease","classifications":[183]},{"orpha":506210,"name":"Rare disorder potentially indicated for liver transplant","classifications":[233]},{"orpha":156532,"name":"Rare syndrome with cardiac malformations","classifications":[147,148,156]},{"orpha":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]},{"orpha":108973,"name":"Syndromic visceral malformation of the liver, biliary tract, pancreas or spleen","classifications":[147,156,182]}],"children":[{"orpha":261600,"name":"Alagille syndrome due to 20p12 microdeletion","type":"Etiological subtype"},{"orpha":261619,"name":"Alagille syndrome due to a JAG1 point mutation","type":"Etiological subtype"},{"orpha":261629,"name":"Alagille syndrome due to a NOTCH2 point mutation","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"JAG1","name":"jagged canonical Notch ligand 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21934706[PMID]","hgnc":"6188","ensembl":"ENSG00000101384","omim":"601920","loci":["20p12.2"],"via":{"orpha":261619,"name":"Alagille syndrome due to a JAG1 point mutation"}},{"symbol":"NOTCH2","name":"notch receptor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21934706[PMID]","hgnc":"7882","ensembl":"ENSG00000134250","omim":"600275","loci":["1p12"],"via":{"orpha":261629,"name":"Alagille syndrome due to a NOTCH2 point mutation"}},{"symbol":"JAG1","name":"jagged canonical Notch ligand 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"21934706[PMID]","hgnc":"6188","ensembl":"ENSG00000101384","omim":"601920","loci":["20p12.2"],"via":{"orpha":261600,"name":"Alagille syndrome due to 20p12 microdeletion"}}],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.5,"area":"Europe","status":"Validated","source":"23881058[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.4,"area":"Australia","status":"Validated","source":"559475[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Australia","status":"Validated","source":"559475[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001396","label":"Cholestasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001131","label":"Corneal dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006571","label":"Reduced number of intrahepatic bile ducts","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004617","label":"Butterfly vertebral arch","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003189","label":"Long nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000307","label":"Pointed chin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000311","label":"Round face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003298","label":"Spina bifida occulta","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100585","label":"Telangiectasia of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003422","label":"Vertebral segmentation defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000615","label":"Abnormal pupil morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000069","label":"Abnormality of the ureter","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003022","label":"Hypoplasia of the ulna","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000563","label":"Keratoconus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000100","label":"Nephrotic syndrome","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004969","label":"Peripheral pulmonary artery stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null}]}}