{"orpha":276399,"name":"Familial multinodular goiter","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["FMNG","Familial MNG","Familial multinodular goiter syndrome"],"definition":"A rare thyroid disease characterized by familial occurrence of thyroid enlargement due to the development of multiple hyperplastic nodules with onset in childhood or adolescence. The condition is commonly associated with the development of other benign or malignant tumors.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-276399/","orphanet_url":"https://www.orpha.net/en/disease/detail/276399","names":{"fr":{"name":"Goitre multinodulaire familial","synonyms":["FMNG","GMN familial","MNG familial","Syndrome de goitre multinodulaire familial"],"definition":"Maladie rare de la thyroïde caractérisée par une hypertrophie familiale de la thyroïde due au développement de multiples nodules hyperplasiques apparaissant dans l'enfance ou l'adolescence. La maladie est souvent associée à d'autres tumeurs bénignes ou malignes."},"de":{"name":"Familiärer multinodulärer Kropf","synonyms":["FMNG","Familiäres multinoduläres Struma-Syndrom","MNG, familiär"],"definition":"Eine seltene Schilddrüsenerkrankung, die durch ein familiäres Auftreten von Schilddrüsenvergrößerungen aufgrund der Entwicklung multipler hyperplastischer Knoten mit Beginn im Kindes- oder Jugendalter gekennzeichnet ist. Die Erkrankung ist häufig mit der Entwicklung anderer gutartiger oder maligner Tumore verbunden."},"es":{"name":"Bocio multinodular familiar","synonyms":["FMNG","MNG familiar","Síndrome de bocio multinodular familiar"],"definition":"Es una enfermedad tiroidea poco frecuente caracterizada por la manifestación familiar de agrandamiento de la tiroides debido al desarrollo de múltiples nódulos hiperplásicos de inicio en la infancia o la adolescencia. El trastorno se asocia comúnmente con el desarrollo de otros tumores benignos o malignos."},"it":{"name":"Gozzo multinodulare familiare","synonyms":["FMNG","MNG familiare","Sindrome del gozzo multinodale familiare"]},"nl":{"name":"Familiaal multinodulair struma","synonyms":["FMNG","Familiaal MNG","Familiaal multinodulair struma-syndroom"],"definition":"Een zeldzame aandoening van schildklier, gekenmerkt door familiaal optreden van vergroting van schildklier door ontwikkeling van meervoudige hyperplastische noduli met aanvang in de kindertijd of adolescentie. De aandoening is vaak geassocieerd met de ontwikkeling van andere goed- of kwaadaardige tumoren."},"pt":{"name":"Bócio multinodular familiar","synonyms":["MNG familiar","Síndrome de bócio multinodular familiar","FMNG"],"definition":"Doença rara da tiróide caracterizada por ocorrência familiar de aumento da tiróide devido ao desenvolvimento de múltiplos nódulos hiperplásicos com início na infância ou adolescência. A patologia é comumente associada ao desenvolvimento de outros tumores benignos ou malignos."},"pl":{"name":"Rodzinne wole wieloguzkowe","synonyms":["FMNG","Rodzinne MNG"]},"cs":{"name":"Familiární multinodulární struma","synonyms":["FMNG","Familiární MNG"]},"uk":{"name":"Сімейний багатовузловий зоб","synonyms":["Сімейний MNG","Сімейний синдром багатовузлового зоба","FMNG"],"definition":"A rare thyroid disease characterized by familial occurrence of thyroid enlargement due to the development of multiple hyperplastic nodules with onset in childhood or adolescence. The condition is commonly associated with the development of other benign or malignant tumors."},"zh":{"name":"家族性多结节甲状腺肿","synonyms":["家族性MNG"]},"tr":{"name":"ailesel multinodüler guatr","synonyms":["FMNG","Ailesel MNG"]}},"xrefs":[{"source":"OMIM","code":"138800","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E04.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A01.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007681","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5779622","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":140162,"name":"Inherited cancer-predisposing syndrome","classifications":[156,202]},{"orpha":183631,"name":"Rare genetic thyroid disease","classifications":[156]},{"orpha":101955,"name":"Rare thyroid disease","classifications":[193]}],"children":[],"genes":[{"symbol":"KEAP1","name":"kelch like ECH associated protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23724128[PMID]","hgnc":"23177","ensembl":"ENSG00000079999","omim":"606016","loci":["19p13.2"]},{"symbol":"DICER1","name":"dicer 1, ribonuclease III","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"21205968[PMID]","hgnc":"17098","ensembl":"ENSG00000100697","omim":"606241","loci":["14q32.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent"],"prevalence":[{"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":"2016-12-21","source":"21266384[PMID]_26577641[PMID]_26555935[PMID]_25451712[PMID]_21205968[PMID]_18570301[PMID]_4358956[PMID]_9345104[PMID]_6261577[PMID]","terms":[{"hpo":"HP:0005987","label":"Multinodular goiter","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002671","label":"Basal cell carcinoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200063","label":"Colorectal polyposis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100615","label":"Ovarian neoplasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100528","label":"Pleuropulmonary blastoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005584","label":"Renal cell carcinoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100619","label":"Sertoli cell neoplasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100617","label":"Testicular seminoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006779","label":"Alveolar rhabdomyosarcoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007129","label":"Cerebellar medulloblastoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030071","label":"Medulloepithelioma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030434","label":"Pilomatrixoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002890","label":"Thyroid carcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000836","label":"Hyperthyroidism","frequency":"Excluded (0%)","criteria":null}]}}