{"orpha":782,"name":"Axenfeld-Rieger syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Axenfeld syndrome","Rieger syndrome"],"definition":"Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-782/","orphanet_url":"https://www.orpha.net/en/disease/detail/782","names":{"fr":{"name":"Syndrome d'Axenfeld-Rieger","synonyms":["Syndrome d'Axenfeld","Syndrome de Rieger"],"definition":"Le syndrome d'Axenfeld-Rieger est un terme générique regroupant un éventail d'affections génétiques ayant en commun une dysgénésie du segment antérieur de l'oeil, des malformations congénitales multiples peuvent être associées."},"de":{"name":"Axenfeld-Rieger-Syndrom","synonyms":["Axenfeld-Syndrom","Rieger-Syndrom"],"definition":"Das Axenfeld-Rieger-Syndrom (ARS) ist die allgemeine Bezeichnung für eine Gruppe genetischer Krankheiten mit überlappenden Symptomen und Dysgenesie des vorderen Augensegmentes als wichtigster anatomischer Anomalie. Patienten mit ARS können mehrere, im einzelnen unterschiedliche angeborene Fehlbildungen aufweisen."},"es":{"name":"Síndrome de Axenfeld-Rieger","synonyms":["Síndrome de Axenfeld","Síndrome de Rieger"],"definition":"El síndrome de Axenfeld-Rieger (ARS) es un término genérico que designa enfermedades genéticas solapadas, donde la afectación más importante es la disgenesia del segmento anterior del ojo. Los pacientes con ARS pueden presentar además anomalías congénitas variables múltiples."},"it":{"name":"Sindrome di Axenfeld-Rieger","synonyms":["Sindrome di Axenfeld","Sindrome di Rieger"],"definition":"Sindrome di Axenfeld-Rieger (ARS) è un termine generico che definisce condizioni genetiche sovrapposte, in cui il segno fisico principale è la disgenesia del segmento anteriore dell'occhio. I pazienti possono presentare varie anomalie congenite multiple."},"nl":{"name":"Syndroom van Axenfeld-Rieger","synonyms":["Syndroom van Axenfeld","Syndroom van Rieger"],"definition":"Axenfeld-Riegersyndroom (ARS) is een generische term die gebruikt wordt om overlappende genetische stoornissen te benoemen, waarvan de belangrijkste lichamelijke toestand dysgenesie van het voorste oogsegment is. Patiënten met ARS kunnen ook meerdere variabele congenitale afwijkingen vertonen."},"pt":{"name":"Síndrome Axenfeld-Rieger","synonyms":["Síndrome Rieger"],"definition":"A síndrome de Axenfeld-Rieger (ARS) é um termo genérico usado para designar doenças genéticas sobreponíveis, em que a patologia principal é a disgenesia do segmento anterior do olho. Os doentes com ARS também podem apresentar múltiplas anomalias congénitas variáveis."},"pl":{"name":"Zespół Axenfelda i Riegera","synonyms":["Zespół Axenfelda","Zespół Riegera"]},"cs":{"name":"Axenfeldův-Riegerův syndrom","synonyms":["Axenfeldův syndrom","Riegerův syndrom","Axenfeld-Riegerův syndrom"]},"uk":{"name":"Синдром Аксьонфельда-Рігера","synonyms":["Синдром Аксьонфельда","Синдром Рігера"],"definition":"Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies."},"zh":{"name":"Axenfeld-Rieger综合征","synonyms":["Axenfeld 综合征"]},"tr":{"name":"Axenfeld-Rieger sendromu","synonyms":["Rieger sendromu","Axenfeld sendromu"]}},"xrefs":[{"source":"OMIM","code":"180500","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"601499","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"602482","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q13.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"803452586"},{"source":"MONDO","code":"0019187","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535679","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3495488","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5701","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10059255","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":1831,"name":"De Hauwere syndrome","status":"inactive"}],"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":95495,"name":"Disease associated with non-acquired combined pituitary hormone deficiency","classifications":[156,193]},{"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":98638,"name":"Rare disease with glaucoma as a major feature","classifications":[156,189]},{"orpha":117573,"name":"Syndromic anorectal malformation","classifications":[147,156,182,233]}],"children":[],"genes":[{"symbol":"PITX2","name":"paired like homeodomain 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"19513095[PMID]","hgnc":"9005","ensembl":"ENSG00000164093","omim":"601542","loci":["4q25"]},{"symbol":"PITX2","name":"paired like homeodomain 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"19513095[PMID]","hgnc":"9005","ensembl":"ENSG00000164093","omim":"601542","loci":["4q25"]},{"symbol":"FOXC1","name":"forkhead box C1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19513095[PMID]","hgnc":"3800","ensembl":"ENSG00000054598","omim":"601090","loci":["6p25.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000593","label":"Abnormal anterior chamber morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008053","label":"Aplasia/Hypoplasia of the iris","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000627","label":"Posterior embryotoxon","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000864","label":"Abnormality of the hypothalamus-pituitary axis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002025","label":"Anal stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000327","label":"Hypoplasia of the maxilla","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000691","label":"Microdontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001582","label":"Redundant skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Occasional (29-5%)","criteria":null}]}}