{"orpha":181393,"name":"Growth hormone insensitivity syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["GHIS","Short stature due to a defect in growth hormone receptor or post-receptor pathway"],"definition":"Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS comprises growth delay due to IGF-1 deficiency, growth delay due to IGF-1 resistance, Laron syndrome, short stature due to STAT5b deficiency and primary acid-labile subunit (ALS) deficiency.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-181393/","orphanet_url":"https://www.orpha.net/en/disease/detail/181393","names":{"fr":{"name":"Syndrome d'insensibilité à l'hormone de croissance","synonyms":["Petite taille par défaut du récepteur ou de la voie post-récepteur de l'hormone de croissance"],"definition":"Le syndrome d'insensibilité à l'hormone de croissance (GHIS) représente un groupe de maladies caractérisées par une très petite taille associée à des taux normaux ou élevés d'hormone de croissance (GH) et qui ne répondent pas à l'administration d'hormone de croissance exogène. Ce groupe comprend le retard de croissance par déficit du facteur de croissance analogue à l'insuline de type 1 (IGF-1), le retard de croissance par résistance à l'IGF-1, le syndrome de Laron, la petite taille due à un déficit en STAT5b et la petite taille due à un déficit primaire en sous-unité acide labile."},"de":{"name":"Syndrom der Wachstumshormoninsensivität","synonyms":["GHIS","Kleinwuchs durch Wachstumshormonrezeptor-Defekt oder Störung im nachfolgenden Stoffwechselweg"],"definition":"Das Syndrom der Wachstumshormon-Insensitivität (GHIS) bezeichnet eine Gruppe von Krankheiten mit erheblichem Kleinwuchs und normaler oder erhöhter Konzentration des Wachstumshormons (GH). Extern zugeführtes GH ist ohne Wirkung auf das Wachstum. Das GHIS umfasst die folgenden Krankheiten: Kleinwuchs durch IGF-Mangel, Laron-Syndrom, Kleinwuchs durch STAT5b-Mangel und der primäre Mangel der säurelabilen Untereinheit (ALS)."},"es":{"name":"Síndrome de insensibilidad a la hormona de crecimiento","synonyms":["GHIS","Talla baja por un defecto en la vía del receptor o post-receptor de la hormona de crecimiento"],"definition":"El síndrome de insensibilidad a la hormona de crecimiento (GHIS) representa un grupo de enfermedades caracterizadas por una marcada baja estatura, asociada a tasas normales o elevadas de hormona del crecimiento (GH), y que no responden a la administración de GH exógena. Este grupo incluye el retraso en el crecimiento por deficiencia de factor de crecimiento análogo a la insulina tipo 1 (IGF-1), el retraso en el crecimiento por resistencia al IGF-1, el síndrome de Laron, la baja estatura por deficiencia de STAT5b y por deficiencia primaria de subunidad ácido-lábil (ALS) (ver estos términos)."},"it":{"name":"Sindrome da resistenza all'ormone della crescita","synonyms":["Bassa statura da difetto del recettore o del pathway post-recettoriale dell'ormone della crescita","GHIS"],"definition":"La sindrome da insensibilità all'ormone della crescita (GHIS) ingloba un gruppo di malattie caratterizzate da statura molto bassa, associata a concentrazioni elevate o normali di ormone della crescita (GH), che non rispondono alla somministrazione di GH esogeno. La GHIS comprende il ritardo della crescita da deficit di IGF-1, il ritardo della crescita da resistenza a IGF-1, la sindrome di Laron, la bassa statura da deficit di STAT5b e il deficit primitivo della subunità labile agli acidi (ALS) (si vedano questi termini)."},"nl":{"name":"Groeihormoonongevoeligheidsyndroom","synonyms":["GHIS","Kleine gestalte door een defect in groeihormoonreceptor of postreceptorroute"],"definition":"Groeihormoonongevoeligheidsyndroom (GHIS) is een groep van ziekten, gekenmerkt door kleine gestalte geassocieerd met normale of verhoogde concentraties van groeihormoon (GH), die niet reageren op toediening van exogeen GH. GHIS bestaat uit groeiachterstand door deficiëntie van IGF-1, groeiachterstand door resistentie tegen IGF-1, syndroom van Laron, kleine gestalte door STAT5b-deficiëntie, en primaire deficiëntie van zuurlabiele subeenheid (ALS)."},"pt":{"name":"Baixa estatura por defeito do recetor da hormona de crescimento ou na via pós-recetor","definition":"A síndrome de insensibilidade à hormona de crescimento (GHIS) é um grupo de doenças caracterizadas por baixa estatura marcada associada a concentrações normais ou elevadas da hormona de crescimento (GH), que não respondem à administração da GH exógena. A GHIS engloba atraso de crescimento por deficiência de IGF-1, atraso de crescimento por resistência ao IGF-1, síndrome de Laron, baixa estatura por deficiência de STAT5B e de subunidade primária ácido-lábil (ALS) (ver estes termos)."},"pl":{"name":"Zespół niewrażliwośći na hormon wzrostu","synonyms":["GHIS","Niski wzrost z powodu defektu receptora dla hormonu wzrostu lub szlaku poreceptorowego"]},"cs":{"name":"Syndrom necitlivosti k růstovému hormonu","synonyms":["GHIS","Malý vzrůst způsobený poruchou receptoru pro růstový hormon nebo defektem v post-receptorové dráze"]},"uk":{"name":"Синдром нечутливості до гормону росту","synonyms":["GHIS","Низький зріст через дефект рецептора гормону росту або пострецепторного шляху"],"definition":"Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS comprises growth delay due to IGF-1 deficiency, growth delay due to IGF-1 resistance, Laron syndrome, short stature due to STAT5b deficiency and primary acid-labile subunit (ALS) deficiency (see these terms)."},"zh":{"name":"生长激素不反应性综合征","synonyms":["生长激素或受体后通路缺乏所致身材矮小症"],"definition":"生长激素不敏感综合征（GHIS）是一组以生长激素（GH）浓度正常或升高而身材明显矮小为特征的疾病，外源性生长激素（GH）治疗无效。GHIS包括胰岛素样生长因子-1缺乏所致生长迟缓、胰岛素样生长因子-1抵抗所致生长迟缓、Laron综合征、STAT5b基因缺乏所致身材矮小和原发性酸不稳定性蛋白亚单位（ALS）缺乏症（见术语）。"},"tr":{"name":"Büyüme hormonu duyarsızlığı sendromu","synonyms":["GHIS","Büyüme hormonu reseptöründe veya reseptör sonrası yolaktaki bir defektine bağlı kısa boyluluk"]}},"xrefs":[{"source":"MONDO","code":"0015892","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"15892","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4318479","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3924","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":156643,"name":"Genetic endocrine growth disease","classifications":[156]},{"orpha":90692,"name":"Rare endocrine growth disease","classifications":[193]},{"orpha":183628,"name":"Rare genetic hypothalamic or pituitary disease","classifications":[156]}],"children":[{"orpha":73273,"name":"Growth delay due to insulin-like growth factor I resistance","type":"Disease"},{"orpha":73272,"name":"Growth delay due to insulin-like growth factor type 1 deficiency","type":"Disease"},{"orpha":633,"name":"Laron syndrome","type":"Disease"},{"orpha":220465,"name":"Laron syndrome with immunodeficiency","type":"Disease"},{"orpha":314802,"name":"Short stature due to partial GHR deficiency","type":"Disease"},{"orpha":140941,"name":"Short stature due to primary acid-labile subunit deficiency","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}