{"orpha":2024,"name":"Hereditary gingival fibromatosis","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal dominant gingival fibromatosis","Autosomal dominant gingival hyperplasia","Hereditary gingival hyperplasia"],"definition":"Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2024/","orphanet_url":"https://www.orpha.net/en/disease/detail/2024","names":{"fr":{"name":"Fibromatose gingivale héréditaire","synonyms":["Fibromatose gingivale autosomique dominante","Hyperplasie gingivale autosomique dominante","Hyperplasie gingivale héréditaire"],"definition":"La fibromatose gingivale héréditaire est une hyperplasie fibreuse rare et bénigne de la gencive maxillaire et mandibulaire, non inflammatoire et lentement progressive. Elle survient généralement avec l'éruption de la dentition permanente (ou plus rare de la dentition primaire), ou même à la naissance. Elle se manifeste par une excroissance nodulaire ou lisse des tissus gingivaux, localisée ou généralisée, de sévérité variable. Elle peut être isolée (avec un mode de transmission autosomique dominant) ou faire partie d'un syndrome."},"de":{"name":"Gingivale Fibromatose, hereditäre","synonyms":["Gingiva-Fibromatose, autosomal-dominante","Gingivahyperplasie, autosomal-dominante","Gingivahyperplasie, hereditäre"],"definition":"Die Hereditäre Gingiva-Fibromatose (HGF) ist eine seltene benigne, langsam progrediente, nicht-entzündliche fibröse Hyperplasie der maxillären und mandibulären Gingiva. In der Regel wird sie beim Durchbruch der Dauerzähne manifest, seltener mit den Milchzähnen, aber auch schon bei der Geburt. Sie besteht in lokokalisierter oder generalisierter, weicher oder nodulärer Proliferation unterschiedlichen Schweregrades von Gingivagewebe. Sie tritt isoliert, autosomal-dominant vererbt oder als Symptom eines Syndroms auf."},"es":{"name":"Fibromatosis gingival hereditaria","synonyms":["Fibromatosis gingival autosómica dominante","Hiperplasia gingival autosómica dominante","Hiperplasia gingival hereditaria"],"definition":"La fibromatosis gingival hereditaria (HGF) es una hiperplasia fibrosa no inflamatoria, de progresión lenta, poco frecuente y benigna, de las encías maxilares y mandibulares que generalmente se produce con la erupción de la dentición permanente (o más raramente de la primaria) o incluso en el nacimiento. Se presenta como un sobrecrecimiento blando o nodular, localizado o generalizado, de los tejidos gingivales y de gravedad variable. Puede ser aislado, con herencia autosómica dominante, o como parte de un síndrome."},"it":{"name":"Fibromatosi gengivale ereditaria","synonyms":["Fibromatosi gengivale autosomica dominante","Iperplasia gengivale autosomica dominante","Iperplasia gengivale ereditaria"],"definition":"La fibromatosi gengivale ereditaria (HGF) è un'iperplasia fibrosa non infiammatoria benigna rara, a progressione lenta, che interessa la gengiva mascellare e mandibolare, in genere in concomitanza con l'eruzione dei denti permanenti (più raramente di quelli decidui) o che addirittura può essere presente alla nascita. Si manifesta in forma di escrescenza nodulare o liscia, localizzata o generalizzata, a livello dei tessuti gengivali, di gravità variabile. Può essere isolata, a trasmissione autosomica dominante, o fare parte di una sindrome."},"nl":{"name":"Erfelijke gingivale fibromatose","synonyms":["Autosomaal dominante gingivafibromatose","Autosomaal dominante hyperplasie van gingiva","Erfelijke hyperplasie van tandvlees"],"definition":"Erfelijke gingivale fibromatose (HGF) is een zeldzame, goedaardige, traag evoluerende, niet-inflammatoire fibreuze hyperplasie van het tandvlees aan de onder- en bovenkaak die doorgaans voorkomt bij het doorkomen van het permanente gebit (of in zeldzamere gevallen van het melkgebit), of zelfs al bij de geboorte. HGF uit zich als gelokaliseerde of gegeneraliseerde, gladde of knobbelvormige overwoekering van het tandvlees met een variërende graad van ernst. Het kan geïsoleerd voorkomen, met een autosomaal dominante overerving, of als onderdeel van een syndroom."},"pt":{"name":"Fibromatose gengival hereditária","synonyms":["Fibromatose gengival tipo dominante"]},"pl":{"name":"Dziedziczna włókniakowatość dziąseł","synonyms":["Autosomalna dominująca włókniakowatość dziąseł","Autosomalny dominujący przerost dziąseł","Dziedziczny przerost dziąseł"]},"cs":{"name":"Hereditární fibromatóza gingivy","synonyms":["Hereditární gingivální hyperplázie","Autozomálně dominantní fibromatóza gingivy","Autozomálně dominantní gingivální hyperplázie"]},"uk":{"name":"Спадковий фіброматоз ясен","synonyms":["Аутосомно-домінантний фіброматоз ясен","Аутосомно-домінантна гіперплазія ясен","Спадкова гіперплазія ясен"],"definition":"Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome."},"zh":{"name":"遗传性牙龈纤维瘤病","synonyms":["常染色体显性遗传牙龈纤维瘤病"]},"tr":{"name":"Kalıtsal dişeti fibromatozu","synonyms":["Kalıtsal dişeti hiperplazisi","Otozomal dominant dişeti hiperplazisi","Otozomal dominant gingival fibromatoz"]}},"xrefs":[{"source":"OMIM","code":"135300","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"605544","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"609955","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"611010","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617626","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"K06.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"DA0B.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1911315646"},{"source":"MONDO","code":"0016070","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562884","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0399440","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10088210","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98026,"name":"Rare odontologic disease"},"parents":[{"orpha":183580,"name":"Genetic malformation syndrome with odontal and/or periodontal component","classifications":[156]},{"orpha":420755,"name":"Rare genetic odontal or periodontal disorder","classifications":[156]},{"orpha":164001,"name":"Rare odontal or periodontal disorder","classifications":[197]}],"children":[],"genes":[{"symbol":"GINGF2","name":"gingival fibromatosis, hereditary, 2","gene_type":"Disorder-associated locus","association":"Candidate gene tested in","status":"Not yet assessed","source":"11386754[PMID]","hgnc":"14252","ensembl":null,"omim":null,"loci":["5q13-q22"]},{"symbol":"REST","name":"RE1 silencing transcription factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28686854[PMID]","hgnc":"9966","ensembl":"ENSG00000084093","omim":"600571","loci":["4q12"]},{"symbol":"SOS1","name":"SOS Ras/Rac guanine nucleotide exchange factor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11868160[PMID]","hgnc":"11187","ensembl":"ENSG00000115904","omim":"182530","loci":["2p22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"26818898[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000169","label":"Gingival fibromatosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000212","label":"Gingival overgrowth","frequency":"Very frequent (99-80%)","criteria":null}]}}