{"orpha":664438,"name":"Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Liang-Wang syndrome"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-664438/","orphanet_url":"https://www.orpha.net/en/disease/detail/664438","names":{"fr":{"name":"Syndrome de fibromatose gingivale-dilatation de la racine de l'aorte-dysmorphie faciale-déficience intellectuelle","synonyms":["Syndrome de Liang-Wang"]},"de":{"name":"Gingivafibromatose-Aortenwurzeldilatation-Gesichtsdysmorphien-Intelligenzminderung-Syndrom","synonyms":["Liang-Wang-Syndrom"]},"es":{"name":"Síndrome de fibromatosis gingival-dilatación de la raíz aórtica-dismorfia facial-discapacidad intelectual","synonyms":["Síndrome de Liang-Wang"]},"it":{"name":"Sindrome fibromatosi gengivale-dilatazione della radice dell’aorta-dismorfismi facciali-disabilità intellettiva","synonyms":["Sindrome di Liang-Wang"]},"nl":{"name":"Gingivafibromatose - dilatatie van aortawortel - faciale dysmorfie - intellectuele achterstand-syndroom","synonyms":["Syndroom van Liang-Wang"]},"pt":{"name":"Síndrome de fibromatose gengival-dilatação do arco aórtico-dismorfia facial-perturbação do desenvolvimento intelectual","synonyms":["Síndrome Liang-Wang"]},"pl":{"name":"Zespół włókniakowatości dziąseł, poszerzenia korzenia aorty, dysmorfii twarzy i niepełnosprawności intelektualnej","synonyms":["Liang-Wang syndrome"]},"cs":{"name":"Syndrom zahrnující gingivální fibromatózu, dilataci kořene aorty, faciální dysmorfii a intelektovou nedostatečnost","synonyms":["Liang-Wang syndrome"]},"uk":{"name":"Синдром фіброматозу ясен-розширення кореня аорти-дизморфізму обличчя- інтелектуальної недостатності","synonyms":["Синдром Лян-Ванга"]}},"xrefs":[{"source":"OMIM","code":"618729","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD25.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0032886","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"32886","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5231479","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183580,"name":"Genetic malformation syndrome with odontal and/or periodontal component","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":139042,"name":"Malformation syndrome with odontal and/or periodontal component","classifications":[147,197]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":98746,"name":"Neurological channelopathy of the central nervous system due to a genetic potassium channel defect","classifications":[156]},{"orpha":156532,"name":"Rare syndrome with cardiac malformations","classifications":[147,148,156]}],"children":[],"genes":[{"symbol":"KCNMA1","name":"potassium calcium-activated channel subfamily M alpha 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"311521168[PMID]","hgnc":"6284","ensembl":"ENSG00000156113","omim":"600150","loci":["10q22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}