{"orpha":633,"name":"Laron syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Complete growth hormone insensitivity","GH receptor deficiency","Growth hormone receptor deficiency","Laron-type dwarfism","Primary GH insensitivity","Primary GH resistance","Primary growth hormone insensitivity","Primary growth hormone resistance","Short stature due to growth hormone resistance"],"definition":"Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-633/","orphanet_url":"https://www.orpha.net/en/disease/detail/633","names":{"fr":{"name":"Syndrome de Laron","synonyms":["Déficit du récepteur à l'hormone de croissance","Insensibilité complète à l'hormone de croissance","Insensibilité primaire à l'hormone de croissance","Nanisme type Laron","Résistance primaire à l'hormone de croissance"],"definition":"Le syndrome de Laron est une maladie congénitale caractérisée par une très petite taille associée à des taux sériques normaux ou élevés d'hormone de croissance (GH) et des taux faibles d'IGF-1 (insulin-like growth factor-1) qui n'augmentent pas après administration d'hormone de croissance exogène."},"de":{"name":"Laron-Syndrom","synonyms":["GH-Insensitivität, primäre","GH-Resistenz, primäre","GH-Rezeptor-Mangel","Kleinwuchs durch Wachstumshormonresistenz","Kleinwuchs, Typ Laron","Wachstumshormon-Insensitivität, komplette","Wachstumshormon-Insensitivität, primäre","Wachstumshormon-Resistenz, primäre","Wachstumshormon-Rezeptor-Mangel"],"definition":"Das Laron-Syndrom ist eine angeborene Krankheit mit erheblichem Kleinwuchs in Verbindung mit normalem oder erhöhtem Serumspiegel des Wachstumshormons (GH) und niedrigem Serumspiegel des Insulin-like growth factor-1 (IGF-1), der nach externer Gabe von GH nicht ansteigt."},"es":{"name":"Síndrome de Laron","synonyms":["Resistencia primaria a la hormona del crecimiento","Talla baja por resistencia a la hormona del crecimiento","Deficiencia de receptor de la GH","Deficiencia de receptor de la hormona de crecimiento","Enanismo tipo Laron","Insensibilidad completa a la hormona del crecimiento","Insensibilidad primaria a la GH","Insensibilidad primaria a la hormona del crecimiento","Resistencia primaria a la GH"],"definition":"El síndrome de Laron es una enfermedad congénita caracterizada por una marcada baja estatura, asociada a niveles normales o elevados de hormona del crecimiento (GH) en el suero, y niveles bajos de IGF-1 (insulin-like growth factor-1) que no aumentan tras la administración de GH exógena."},"it":{"name":"Sindrome di Laron","synonyms":["Bassa statura da resistenza all'ormone della crescita","Deficit del recettore dell'ormone della crescita","Deficit del recettore di GH","Insensibilità primaria al GH","Insensibilità primaria all'ormone della crescita","Nanismo, tipo Laron","Resistenza completa all'ormone della crescita","Resistenza primaria al GH","Resistenza primaria all'ormone della crescita"]},"nl":{"name":"Syndroom van Laron","synonyms":["Deficiëntie van groeihormoonreceptor","Dwerggroei, Laron-type","GH-receptordeficiëntie","Kleine gestalte door resistentie tegen groeihormoon","Primaire GH-insensitiviteit","Primaire GH-resistentie","Primaire insensitiviteit voor groeihormoon","Primaire resistentie tegen groeihormoon","Volledige insensitiviteit voor groeihormoon"],"definition":"Syndroom van Laron is een congenitale aandoening, gekenmerkt door opmerkelijk kleine gestalte geassocieerd met normale of hoge gehaltes van groeihormoon (GH) in serum en lage gehaltes van insulineachtige groeifactor-1 (IGF-I) in serum die niet stijgen na toediening van exogeen GH."},"pt":{"name":"Síndrome Laron","synonyms":["Baixa estatura por resistência à hormona do crescimento","Deficiência de recetor GH","Deficiência de recetor de hormona do crescimento","Insensibilidade GH primária","Insensibilidade completa à hormona do crescimento","Nanismo tipo Laron","Resistência GH primária"],"definition":"O síndrome de Laron é uma patologia congénita caracterizada por baixa estatura marcada associada a níveis de hormona de crescimento (GH) séricos normais ou altos e níveis séricos baixos do fator de crescimento insulina-like 1 (IGF-1) que não aumentam após administração de GH exógena."},"pl":{"name":"Zespół Larona","synonyms":["Całkowita niewrażliwość na hormon wzrostu","Karłowatość typu Larona","Niedobór receptora dla hormonu wzrostu","Niedobór receptora GH","Niski wzrost spowodawany opornością na hormon wzrostu","Pierwotna niewrażliwość na GH","Pierwotna niewrażliwość na hormon wzrostu","Pierwotna oporność na GH","Pierwotna oporność na hormon wzrostu"]},"cs":{"name":"Laronův syndrom","synonyms":["Deficit GH receptoru","Primární necitlivost k GH","Primární GH rezistence","Kompletní necitlivost k růstovému hormonu","Deficit receptoru pro růstový hormon","Laronův typ nanismu","Primární necitlivost k růstovému hormonu","Primární rezistence k růstovému hormonu","Malý vzrůst kvůli rezistenci na růstový hormon"]},"uk":{"name":"Синдром Ларона","synonyms":["Повна нечутливість до гормону росту","Дефіцит рецепторів гормону росту","Дефіцит рецепторів гормону росту","Карликовість ларонського типу","Первинна нечутливість до GH","Первинна стійкість до GH","Первинна нечутливість до гормону росту","Первинна резистентність до гормону росту","Низький зріст через резистентність до гормону росту"],"definition":"Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration."},"zh":{"name":"Laron综合征","synonyms":["生长激素抵抗所致矮小"]},"tr":{"name":"Laron sendromu","synonyms":["Laron tipi cücelik","Primer GH direnci","GH reseptör eksikliği","Primer GH duyarsızlığı","Primer büyüme hormonu direnci","Büyüme hormonu reseptör eksikliği","Primer büyüme hormonu duyarsızlığı","Tam büyüme hormonu duyarsızlığı","Büyüme hormonu direncine bağlı kısa boy"]}},"xrefs":[{"source":"OMIM","code":"262500","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":"176353068"},{"source":"MONDO","code":"0009877","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D046150","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0271568","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6859","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10075492","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]}],"children":[],"genes":[{"symbol":"GHR","name":"growth hormone receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18406284[PMID]_24664892[PMID]","hgnc":"4263","ensembl":"ENSG00000112964","omim":"600946","loci":["5p13.1-p12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.3,"area":"Europe","status":"Validated","source":"European Medicines Agency 2003[OTHER]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.86,"area":"China","status":"Validated","source":"34103049[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000818","label":"Abnormality of the endocrine system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009924","label":"Aplasia/Hypoplasia involving the nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005281","label":"Hypoplastic nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000691","label":"Microdontia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009804","label":"Tooth agenesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001956","label":"Truncal obesity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009811","label":"Abnormality of the elbow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001831","label":"Short toe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009891","label":"Underdeveloped supraorbital ridges","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000929","label":"Abnormal skull morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001620","label":"Abnormally high-pitched voice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000592","label":"Blue sclerae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000457","label":"Depressed nasal ridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003124","label":"Hypercholesterolemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000966","label":"Hypohidrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002758","label":"Osteoarthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007495","label":"Prematurely aged appearance","frequency":"Occasional (29-5%)","criteria":null}]}}