{"orpha":73272,"name":"Growth delay due to insulin-like growth factor type 1 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Growth delay-deafness-intellectual disability syndrome","Growth delay-hearing loss-intellectual disability syndrome","IGF-1 deficiency","Primary insulin-like growth factor deficiency"],"definition":"Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-73272/","orphanet_url":"https://www.orpha.net/en/disease/detail/73272","names":{"fr":{"name":"Retard de croissance par déficit du facteur de croissance analogue à l'insuline type 1","synonyms":["Déficit en IGF-1","Déficit primaire en facteur de croissance analogue à l'insuline","Syndrome de retard de croissance-surdité-déficience intellectuelle"],"definition":"Le retard de croissance par déficit du facteur de croissance analogue à l'insuline de type 1 (IGF-1) est caractérisé par l'association d'un retard de la croissance intra-utérine et postnatale, d'une surdité neurosensorielle et d'un déficit intellectuel."},"de":{"name":"Wachstumsverzögerung durch IGF-1 (insulin-like growth factor I)-Mangel","synonyms":["IGF-1-Defizienz","IGF-1-Mangel","Insulin-ähnlicher Wachstumsfaktor-1-Mangel, primärer","Wachstumsverzögerung-Taubheit-Intelligenzminderung-Syndrom"],"definition":"Die Wachstumsverzögerung durch IGF-1 (insulin-like growth factor I)-Mangel ist gekennzeichnet durch die Assoziation von prä- und postnataler Wachstumsverzögerung, Schallempfindungs-Schwerhörigkeit und verminderter Intelligenz."},"es":{"name":"Retraso del crecimiento por deficiencia del factor de crecimiento similar a la insulina tipo 1","synonyms":["Deficiencia de IGF-1","Deficiencia primaria del factor de crecimiento similar a la insulina","Síndrome de retraso del crecimiento-hipoacusia-discapacidad intelectual","Síndrome de retraso del crecimiento-sordera-discapacidad intelectual"],"definition":"El retraso en el crecimiento por deficiencia de factor de crecimiento insulínico de tipo 1 (IGF-1) se caracteriza por la asociación de retraso en el crecimiento intrauterino y postnatal, sordera neurosensorial y discapacidad intelectual."},"it":{"name":"Ritardo della crescita da deficit del fattore di crescita 1 insulino-simile","synonyms":["Sindrome ritardo della crescita-sordità-disabilità intellettiva","Sindromeritardo della crescita-perdita dell'udito-disabilità intellettiva","Deficit di IGF-1","Deficit primitivo del fattore di crescita insulino-simile","Ritardo della crescita - sordità - deficit cognitivo"]},"nl":{"name":"Groeiachterstand door deficiëntie van insulineachtige groeifactor I","synonyms":["Groeiachterstand - doofheid - intellectuele achterstand-syndroom","Groeiachterstand - gehoorverlies - intellectuele achterstand-syndroom","IGF-1-deficiëntie","Primaire deficiëntie van insulineachtige groeifactor"],"definition":"Groeiachterstand door deficiëntie van insulineachtige groeifactor I wordt gekenmerkt door de associatie van intra-uteriene en postnatale groeiretardatie met sensorineurale doofheid en intellectuele achterstand."},"pt":{"name":"Atraso de crescimento por deficiência de fator de crescimento insulina-like I","synonyms":["Deficiência de IGF-1","Deficiência primária de fator de crescimento insulina-like","Síndrome de atraso de crescimento-perda auditiva-perturbação do desenvolvimento intelectual","Síndrome de atraso de crescimento-surdez-perturbação do desenvolvimento intelectual"],"definition":"O atraso no crescimento por deficiência no fator de crescimento insulina-like 1 é caracterizado pela associação de atraso do crescimento intrauterino e pós-natal com surdez neurossensorial e défice intelectual."},"pl":{"name":"Opóźnienie wzrostu z powodu niedoboru czynnika wzrostu podobnego do insuliny typu 1","synonyms":["Niedobór IGF-1","Opóźnienie wzrostu - głuchota - niepełnosprawność intelektualna","Pierwotny Niedobór czynnika wzrostu podobnego do insuliny"]},"cs":{"name":"Opožděný růst způsobený deficitem růstového faktoru 1 podobného inzulinu","synonyms":["Deficit IGF-1","Syndrom zahrnující opožděný růst, hluchotu a mentální postižení","Primární deficit růstového faktoru podobného inzulinu"]},"uk":{"name":"Затримка росту через дефіцит інсуліноподібного фактора росту 1 типу","synonyms":["Синдром затримки росту-глухоти-інтелектуальної недостатності","Синдром затримки росту - втрати слуху - інтелектуальної недостатності","Дефіцит IGF-1","Первинний дефіцит інсуліноподібного фактора росту"],"definition":"Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit."},"zh":{"name":"胰岛素样生长因子1型缺乏所致发育迟缓","synonyms":["生长延迟-听力丧失-智力障碍综合征"]},"tr":{"name":"İnsülin benzeri büyüme faktörü tip 1 eksikliğine bağlı büyüme gecikmesi","synonyms":["IGF-1 eksikliği","Primer insülin benzeri büyüme faktörü eksikliği","Büyüme gecikmesi-sağırlık-zihinsel yetersizlik sendromu","Büyüme gecikmesi-işitme kaybı-zihinsel yetersizlik sendromu"]}},"xrefs":[{"source":"OMIM","code":"608747","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":"550027221"},{"source":"MONDO","code":"0012110","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563867","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1837475","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10627","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":"IGF1","name":"insulin like growth factor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"8857020[PMID]_14684690[PMID]","hgnc":"5464","ensembl":"ENSG00000017427","omim":"147440","loci":["12q23.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"24389050[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24389050[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-03-15","source":"24389050[PMID]_8857020[PMID]_14684690[PMID]_24243634[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008619","label":"Bilateral sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008527","label":"Congenital sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000855","label":"Insulin resistance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000399","label":"Prelingual sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008846","label":"Severe intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008850","label":"Severe postnatal growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000736","label":"Short attention span","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000153","label":"Abnormality of the mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030084","label":"Clinodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003265","label":"Neonatal hyperbilirubinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006266","label":"Small placenta","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000957","label":"Cafe-au-lait spot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011120","label":"Concave nasal ridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007911","label":"Congenital bilateral ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000294","label":"Low anterior hairline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000954","label":"Single transverse palmar crease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001956","label":"Truncal obesity","frequency":"Occasional (29-5%)","criteria":null}]}}