{"orpha":2576,"name":"Mulibrey nanism","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["MUL","Mulibrey growth disorder","Muscle-liver-brain-eye nanism"],"definition":"A rare developmental defect during embryogenesis characterized by growth delay and multiorgan manifestations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2576/","orphanet_url":"https://www.orpha.net/en/disease/detail/2576","names":{"fr":{"name":"Nanisme Mulibrey","synonyms":["MUL","Nanisme muscle-foie-cerveau-oeil"],"definition":"Anomalie rare du développement embryonnaire caractérisée par un retard de croissance et une atteinte multi-organes."},"de":{"name":"Mulibrey-Kleinwuchs","synonyms":["MUL","Mulibrey-Wachstumsstörung"],"definition":"Ein seltener Entwicklungsdefekt während der Embryogenese, der durch Wachstumsverzögerung und Multiorganmanifestationen gekennzeichnet ist. Das Akronym Mulibrey bezeichnet Organe, die bei diesem Syndrom betroffen sind: Muskel (<u>mu</u>scle), Leber (<u>li</u>ver), Hirn (<u>br</u>ain) und Auge (<u>ey</u>e)."},"es":{"name":"Síndrome de MULIBREY","synonyms":["Enanismo músculo-hígado-cerebro-ojo","MUL","Trastorno del crecimiento MULIBREY"],"definition":"Es un defecto poco frecuente del desarrollo embrionario caracterizado por retraso del crecimiento y manifestaciones multiorgánicas."},"it":{"name":"Nanismo MULIBREY","definition":"È un difetto raro dello sviluppo dell'embrione caratterizzato da ritardo della crescita e segni clinici multiorgano."},"nl":{"name":"Mulibrey-nanisme","synonyms":["MUL","Mulibrey-groeistoornis","Spier-lever-hersenen-oog nanisme"],"definition":"Een zeldzaam ontwikkelingsdefect tijdens de embryogenese dat gekarakteriseerd wordt door groeiachterstand en manifestaties aan meerdere organen."},"pt":{"name":"Nanismo de Mulibrey","synonyms":["Doença do crescimento de Mulibrey","MUL"]},"pl":{"name":"Niskorosłość","synonyms":["Karłowatość MULIBREY","Niskorosłość mięśniowo-wątrobowo-mózgowo-oczna","Zaciśnięcie osierdzia - opóźnienie wzrostu","Zespół Perheentupa"],"definition":"Niskorosłość MULIBREY (MUL) to prenatalne zaburzenie wzrostu, które dotyczy wielu narządów."},"cs":{"name":"MULIBREY nanismus","synonyms":["MULIBREY trpaslictví","Nanismus postihující svaly, játra, mozek a oči","Perheentupův syndrom","Syndrom zahrnující perikardiální konstrikci a selhání růstu"]},"uk":{"name":"Нанізм Мулібрі","synonyms":["MUL","Розлад росту Мулібрі","Мязово-печінково-мозково-очний нанізм"],"definition":"A rare developmental defect during embryogenesis characterized by growth delay and multiorgan manifestations."},"zh":{"name":"Mulibrey侏儒症","synonyms":["肌肉-肝-脑-眼侏儒症"]},"tr":{"name":"Mulibrey nanizmi","synonyms":["MUL","Mulibrey büyüme bozukluğu","Kas-karaciğer-beyin-göz nanizmi"]}},"xrefs":[{"source":"OMIM","code":"253250","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1167260635"},{"source":"MONDO","code":"0009664","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D050336","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0524582","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"95","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183570,"name":"Genetic malformation syndrome with short stature","classifications":[156]},{"orpha":139021,"name":"Malformation syndrome with short stature","classifications":[147]}],"children":[],"genes":[{"symbol":"TRIM37","name":"tripartite motif containing 37","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19347900[PMID]","hgnc":"7523","ensembl":"ENSG00000108395","omim":"605073","loci":["17q22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":150.0,"area":"Worldwide","status":"Validated","source":"29731032[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_29731032[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":2.7,"area":"Finland","status":"Validated","source":"12627297[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001620","label":"Abnormally high-pitched voice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004326","label":"Cachexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002680","label":"J-shaped sella turcica","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null}]}}