{"orpha":314811,"name":"Short stature due to GHSR deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Ghrelin receptor deficiency","Short stature due to growth hormone secretagogue receptor deficiency"],"definition":"Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-314811/","orphanet_url":"https://www.orpha.net/en/disease/detail/314811","names":{"fr":{"name":"Petite taille par déficit en GHSR","synonyms":["Petite taille par déficit en récepteur des secrétagogues de l'hormone de croissance"],"definition":"Une maladie génétique endocrinienne rare affectant la croissance, causée par un déficit en récepteurs sécrétagogues de l'hormone de croissance (GHSR). Elle se caractérise par un retard de croissance post-natale conduisant à une petite taille (moins de -2 SD). Habituellement, la glande pituitaire ne présente pas de changement morphologique, bien qu'une hypoplasie de la glande pituitaire antérieure ait été rapportée."},"de":{"name":"Kleinwuchs durch GHSR-Mangel","synonyms":["Ghrelin-Rezeptor-Mangel","Kleinwuchs durch Wachstumshormon-Sekretagogum-Rezeptor-Mangel"],"definition":"Kleinwuchs durch GHSR-Mangel ist eine seltene, genetisch bedingte, endokrine Wachstumsstörung, die aus einem Mangel des Wachstumshormon-Sekretagogen-Rezeptors (GHSR) resultiert und durch eine postnatale Wachstumsverzögerung gekennzeichnet ist, die zu Kleinwuchs (weniger als -2 SD) führt. Die Hypophyse ist typischerweise ohne morphologische Veränderungen, obwohl über Hypophysenvorderlappen-Hypoplasie berichtet wurde."},"es":{"name":"Talla baja por deficiencia de GHSR","synonyms":["Deficiencia del receptor de ghrelina","Talla baja por deficiencia del receptor de secretagogos de la hormona de crecimiento"],"definition":"La talla baja debida a una deficiencia de GHSR, es un trastorno endocrino genético y poco frecuente del crecimiento, que resulta de la deficiencia del receptor de secretagogos de la hormona del crecimiento (GHSR). Está caracterizado por un retraso en el crecimiento postnatal que resulta en talla baja (menos de -2 SD). Por lo general, la glándula pituitaria no presenta cambios morfológicos, aunque se ha descrito algún caso de hipoplasia de la glándula pituitaria anterior."},"it":{"name":"Bassa statura da deficit di GHSR","synonyms":["Bassa statura da deficit del recettore secretagogo dell'ormone della crescita","Deficit del recettore della grelina"],"definition":"La bassa statura da deficit di GHSR è una malattia endocrina rara della crescita, di origine genetica, causata da un difetto del recettore secretatogo dell'ormone della crescita (GHSR). È caratterizzata da ritardo della crescita postnatale che esita nella bassa statura (meno di -2 deviazioni standard). Di solito l'ipofisi non presenta alterazioni morfologiche, sebbene siano stati documentati alcuni casi di ipoplasia."},"nl":{"name":"Kleine gestalte door GHSR-deficiëntie","synonyms":["Ghrelin-receptordeficiëntie","Kleine gestalte door groeihormoonsecretagoge receptordeficiëntie"],"definition":"Kleine gestalte door GHSR-deficiëntie is een zeldzame, genetische, endocriene groeistoornis als gevolg van groeihormoonsecretagoge receptor (GHSR)-deficiëntie, en wordt gekarakteriseerd door postnatale groeiachterstand die resulteert in een kleine gestalte (minder dan -2 SD). De hypofyse vertoont doorgaans geen morfologische veranderingen, hoewel reeds hypoplasie van de anterieure hypofyse werd gerapporteerd."},"pt":{"name":"Baixa estatura devido à deficiência de GHRS","synonyms":["Baixa estatura devido à deficiência do receptor do secretagogo da hormona de crescimento"]},"pl":{"name":"Niski wzrost z powodu niedoboru GHSR","synonyms":["Niski wzrost z powodu niedoboru receptora dla substancji uwalniajacych GH"],"definition":"*Niski wzrost związany z niedoborem GHSR jest rzadkim, genetycznie uwarunkowanym, endokrynologicznym zaburzeniem wzrastania, związanym z defektem/brakiem receptora dla substancji pobudzających wydzielanie hormonu wzrostu (GHSR), charakteryzującym się opóźnieniem wzrastania po urodzeniu, co w konsekwencji powoduje niski wzrost (poniżej -2 SD).W przysadce mózgowej zwykle nie ma zmian morfologicznych, chociaż opisywano jej hipoplazję."},"cs":{"name":"Deficit ghrelinového receptoru","synonyms":["Ghrelin receptor deficiency","Short stature due to growth hormone secretagogue receptor deficiency"]},"uk":{"name":"Низькорослість, зумовлена дефіцитом GHSR","synonyms":["Дефіцит рецепторів греліну","Низький зріст через дефіцит рецепторів секретагену гормону росту"],"definition":"Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported."},"zh":{"name":"GHSR基因缺陷所致身材矮小","synonyms":["生长激素促分泌素受体缺陷所致身材矮小"],"definition":"GHSR缺陷导致的身材矮小是一种罕见的遗传性内分泌相关生长疾病，由生长激素促分泌受体（GHSR）缺陷引起，其特征是产后生长迟缓，导致身材矮小（小于2个标准差）。垂体通常没有形态变化，尽管有过垂体前叶发育不良的报告。"},"tr":{"name":"GHSR eksikliği nedeniyle kısa boy","synonyms":["Ghrelin reseptör eksikliği","Büyüme hormonu salgılatıcı reseptör eksikliğine bağlı boy kısalığı"]}},"xrefs":[{"source":"OMIM","code":"615925","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":"attributed","validated":true},{"source":"MONDO","code":"0014403","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707848","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":95488,"name":"Non-acquired pituitary hormone deficiency","classifications":[156,193]}],"children":[],"genes":[{"symbol":"GHSR","name":"growth hormone secretagogue receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"4267","ensembl":"ENSG00000121853","omim":"601898","loci":["3q26.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"16511605[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_16511605[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-01-13","source":"19789204[PMID]_16511600[PMID]_165111605[PMID]","terms":[{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004325","label":"Decreased body weight","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030353","label":"Decreased serum insulin-like growth factor 1","frequency":"Very frequent (99-80%)","criteria":null},{"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:0001943","label":"Hypoglycemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001946","label":"Ketosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004323","label":"Abnormality of body weight","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Occasional (29-5%)","criteria":null}]}}