{"orpha":73273,"name":"Growth delay due to insulin-like growth factor I resistance","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Resistance to IGF-1"],"definition":"Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-73273/","orphanet_url":"https://www.orpha.net/en/disease/detail/73273","names":{"fr":{"name":"Retard de croissance par résistance au facteur de croissance analogue à l'insuline type 1","synonyms":["Résistance à l'IGF-1"],"definition":"Le retard de croissance par résistance au facteur de croissance analogue à l'insuline de type 1 (IGF-1) est caractérisé par un retard variable de la croissance intra-utérine et postnatale, et par une élévation des taux sériques en IGF-1. Les autres signes fréquents sont un déficit intellectuel de degré variable, une microcéphalie, et une dysmorphie (racine et pointe du nez larges, philtrum lisse, lèvre supérieure mince et lèvre inférieure proéminente, doigts courts, clinodactylie, mamelons écartés et <i>pectus excavatum</i>)."},"de":{"name":"Wachstumsverzögerung durch IGF-1-Resistenz","synonyms":["IGF-1-Resistenz","Insulin-ähnlicher Wachstumsfaktor 1-Resistenz"],"definition":"Die Wachstumsverzögerung durch IGF-1-Resistenz ist gekennzeichnet durch unterschiedlich schwere intrauterine und postnatale Wachstumverzögerung und erhöhte IGF-1-Spiegel im Serum. Weitere Symptome sind verminderte Intelligenz, Mikrozephalie und Dysmorphien (breiter Nasenrücken, breite Nasenspitze, flaches Philtrum, dünne und evertierte Unterlippe, kurze Finger, Klinodaktylie, weiter Mamillenabstand, Pectus excavatum)."},"es":{"name":"Retraso del crecimiento por resistencia al factor de crecimiento similar a la insulina tipo 1","synonyms":["Retraso del crecimiento por resistencia al factor de crecimiento insulina-like tipo 1"],"definition":"El retraso en el crecimiento por resistencia al factor de crecimiento insulínico de tipo 1 (IGF-1) se caracteriza por un retraso variable en el crecimiento intrauterino y postnatal, y por niveles elevados de IGF-1 en suero. Los otros signos frecuentes son: discapacidad intelectual de grado variable, microcefalia, dismorfismo (puente y punta de la nariz anchos, filtrum liso, labio superior delgado y labio inferior prominente, dedos cortos, clinodactilia, pezones separados y pectus excavatum)."},"it":{"name":"Ritardo della crescita da resistenza al fattore di crescita 1 insulino-simile","synonyms":["Resistenza a IGF-1"]},"nl":{"name":"Groeiachterstand door insulineachtige groeifactor I-resistentie","synonyms":["Resistentie tegen IGF-1"],"definition":"Groeiachterstand door resistentie tegen IGF-I wordt gekenmerkt door variabele intra-uteriene en postnatale groeiretardatie en verhoogde gehaltes van IGF-I in serum. Bijkomende kenmerken zijn onder meer variabele gradaties van intellectuele achterstand, microcefalie en dysmorfie (brede neusbrug en neuspunt, glad filtrum, dunne bovenlip, eversie van onderlip, korte vingers, clinodactylie, ver uit elkaar liggende tepels, en pectus excavatum)."},"pt":{"name":"Atraso de crescimento por resistência ao fator de crescimento insulina-like I","synonyms":["Resistência ao IGF-1"],"definition":"O atraso do crescimento por resistência à IGF-1 é caracterizado por um atraso variável no crescimento intra-uterino e pós-natal, e níveis de IGF-1 séricos elevados. As características adicionais incluem déficit intelectual de grau variável, microcefalia e dismorfismo (ponte e ponta nasal larga, filtro liso, lábio superior fino e lábio inferior proeminente, dedos encurtados, clinodactilia, hipertelorismo mamilar e pectus excavatum)."},"pl":{"name":"Opóźnienie wzrostu z powodu oporności na czynnik wzrost podobny do insuliny typu I","synonyms":["Oporność na IGF-1"]},"cs":{"name":"Opožděný růst způsobený rezistencí na růstový faktor I podobný inzulinu","synonyms":["IGF-1 rezistence"]},"uk":{"name":"Затримка росту через резистентність до інсуліноподібного фактора росту I","synonyms":["Резистентність до ІФР-1"],"definition":"Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum)."},"zh":{"name":"胰岛素样生长因子1型抵抗所致发育迟缓","synonyms":["IGF-1抵抗"]},"tr":{"name":"İnsülin benzeri büyüme faktörü I direncine bağlı büyüme gecikmesi","synonyms":["IGF-1'e direnç"]}},"xrefs":[{"source":"OMIM","code":"270450","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E34.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A61.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"272435490"},{"source":"MONDO","code":"0010038","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564816","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1849157","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10609","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":181393,"name":"Growth hormone insensitivity syndrome","classifications":[156,193]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"IGF1R","name":"insulin like growth factor 1 receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"14657428[PMID]","hgnc":"5465","ensembl":"ENSG00000140443","omim":"147370","loci":["15q26.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Infancy","Neonatal"],"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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030084","label":"Clinodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null}]}}