{"orpha":314802,"name":"Short stature due to partial GHR deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Short stature due to partial growth hormone receptor deficiency"],"definition":"Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-314802/","orphanet_url":"https://www.orpha.net/en/disease/detail/314802","names":{"fr":{"name":"Petite taille par déficit en GHR","synonyms":["Petite taille par déficit en récepteur de l'hormone de croissance"],"definition":"Maladie endocrinienne génétique rare caractérisée par une petite taille idiopathique due à une diminution de la fonction du GHR (diminution de la liaison du ligand ou de la disponibilité du récepteur), entraînant une insensibilité partielle à l'hormone de croissance."},"de":{"name":"Kleinwuchs durch partiellen GHR-Mangel","synonyms":["Kleinwuchs durch partiellen Wachtumshormon-Mangel"]},"es":{"name":"Talla baja por deficiencia parcial de GHR","synonyms":["Talla baja por deficiencia parcial del receptor de la hormona de crecimiento"],"definition":"La talla baja por deficiencia parcial de GHR es una enfermedad endocrina, genética y poco frecuente, caracterizada por talla baja idiopática debida a la disminución de la función del GHR (disminución de la unión del ligando o disponibilidad reducida del receptor), lo que resulta en una insensibilidad parcial a la hormona del crecimiento."},"it":{"name":"Bassa statura da deficit parziale di GHR","synonyms":["Bassa statura da deficit parziale del recettore dell'ormone della crescita"],"definition":"La bassa statura da deficit parziale di GHR è un'endocrinopatia genetica rara, caratterizzata da bassa statura idiopatica secondaria ad una riduzione della funzione del GHR (diminuzione del legame con il ligando o della disponibilità del recettore), con conseguente insensibilità parziale all'ormone della crescita."},"nl":{"name":"Kleine gestalte door partiële GHR-deficiëntie","synonyms":["Kleine gestalte door partiële groeihormoonreceptordeficiëntie"],"definition":"Kleine gestalte door partiële GHR-deficiëntie is een zeldzame, genetische, endocriene ziekte die gekarakteriseerd wordt door idiopathische kleine gestalte als gevolg van verminderde GHR-functie (verminderde binding van ligand of verminderde beschikbaarheid van receptor), wat leidt tot partiële insensitiviteit voor groeihormoon."},"pt":{"name":"Baixa estatura devido à deficiência parcial de GHR","synonyms":["Baixa estatura devido à deficiência parcial do receptor da hormona de crescimento"]},"pl":{"name":"Niski wzrost związany z częściowym niedoborem GHR","synonyms":["Niski wzrost związany z częściowym niedoborem receptora hormonu wzrostu"],"definition":"*Niski wzrost związany z częściowym niedoborem GHR (Growth Hormon Receptor – receptor hormonu wzrostu) jest rzadką, genetycznie uwarunkowaną chorobą endokrynologiczną, która charakteryzuje się idiopatycznie niskim wzrostem z powodu obniżonej funkcji GHR (zmniejszone wiązanie liganda lub zmniejszona dostępność receptora), co skutkuje częściową niewrażliwością na hormon wzrostu."},"cs":{"name":"Malý vzrůst způsobený částečným deficitem receptoru pro růstový hormon","synonyms":["Short stature due to partial growth hormone receptor deficiency"]},"uk":{"name":"Низькорослість, зумовлена частковим дефіцитом GHR","synonyms":["Низький зріст через частковий дефіцит рецепторів гормону росту"],"definition":"Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone."},"zh":{"name":"GHR基因部分缺陷所致身材矮小","synonyms":["生长激素受体部分缺陷所致身材矮小"],"definition":"部分生长激素受体（GHR）缺陷导致的身材矮小是一种罕见的遗传性内分泌疾病，其特征是GHR功能减弱（配体结合减少或受体可用性降低），从而导致对生长激素部分不敏感。"},"tr":{"name":"Kısmi GHR eksikliği nedeniyle kısa boy","synonyms":["Kısmi büyüme hormonu reseptör eksikliğine bağlı kısa boy"]}},"xrefs":[{"source":"OMIM","code":"604271","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E34.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011420","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190814","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":null,"hgnc":"4263","ensembl":"ENSG00000112964","omim":"600946","loci":["5p13.1-p12"]}],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Childhood"],"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":"2016-01-13","source":"9140387[PMID]_9814495[PMID]_9140387[PMID]_7568946[PMID]_21525302[PMID]","terms":[{"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:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Occasional (29-5%)","criteria":null}]}}