{"orpha":629,"name":"Short stature due to growth hormone qualitative anomaly","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Kowarski syndrome"],"definition":"Short stature due to growth hormone qualitative anomaly is characterised by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of insulin-like growth factor-I (IGF-I) and a significant increase in growth rate following recombinant GH therapy. Prevalence is unknown but only a few cases have been reported in the literature. The syndrome is caused by various mutations in the <i>GH1</i> gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-629/","orphanet_url":"https://www.orpha.net/en/disease/detail/629","names":{"fr":{"name":"Petite taille par anomalie qualitative de l'hormone de croissance","synonyms":["Syndrome de Kowarski"],"definition":"La petite taille par anomalie qualitative de l'hormone de croissance est caractérisée par un retard de croissance et une petite taille (malgré la présence de taux normaux ou élevés d'hormone de croissance immunoréactive, GH), des concentrations faibles du facteur de croissance <i>insulin-like growth factor-I</i> (IGF-I) et une augmentation significative du taux de croissance en réponse au traitement par GH recombinante. La prévalence est inconnue mais peu de cas ont été rapportés dans la littérature. Le syndrome est dû à de nombreuses mutations du gène <i>GH1</i> (17q22-q24) impliquant des anomalies structurelles de GH et une molécule biologiquement inactive. La transmission est autosomique récessive."},"de":{"name":"Kleinwuchs durch qualitative Wachstumshormonanomalien","synonyms":["Kowarski-Syndrom","Wachstumshormonmangel Typ 1"],"definition":"Dieses Syndrom ist gekennzeichnet durch verzögertes Wachstum und Kleinwuchs (trotz normaler oder leicht erhöhter Spiegel von immunreaktivem Wachstumshormon, GH), niedrige Spiegel des Insulin-like-growth-factor-I (IGF-I) und signifikante Zunahme der Wachstumsrate nach Therapie mit rekombinantem GH."},"es":{"name":"Talla baja por anomalía cualitativa de hormona de crecimiento","synonyms":["Síndrome de Kowarski"],"definition":"Este síndrome se caracteriza por retraso en el crecimiento y estatura baja (a pesar de la presencia de niveles normales o elevados de hormona de crecimiento inmunorreactiva, GH), concentraciones bajas de factor de crecimiento insulínico tipo 1 (IGF-1) y un aumento significativo del nivel de crecimiento en respuesta al tratamiento con GH recombinante. La prevalencia es desconocida y en la literatura se han descrito sólo algunos casos. El síndrome está causado por varias mutaciones en el gen <i>GH1</i> (17q22-q24), que provocan anomalías estructurales del GH y en una molécula biológicamente inactiva. La transmisión es autosómica recesiva."},"it":{"name":"Bassa statura da difetto quantitativo dell'ormone della crescita","synonyms":["Sindrome di Kowarski"]},"nl":{"name":"Kleine gestalte door kwalitatieve anomalie van groeihormoon","synonyms":["Syndroom van Kowarski"],"definition":"Kleine gestalte door kwalitatieve anomalie van groeihormoon wordt gekenmerkt door groeiretardatie en kleine gestalte (ondanks aanwezigheid van normale of licht verhoogde gehaltes van immunoreactief groeihormoon, GH), lage concentraties van insulineachtige groeifactor I (IGF-I), en significante toename van groeisnelheid na therapie met recombinant GH. De prevalentie is niet gekend, maar er werden slechts enkele gevallen gerapporteerd in de literatuur. Het syndroom wordt veroorzaakt door verschillende mutaties in het gen <i>GH1</i> (17q22-q24), die resulteren in structurele anomalieën van GH en een biologisch inactief molecule. Transmissie gebeurt autosomaal recessief."},"pt":{"name":"Baixa estatura por anomalia qualitativa da hormona de crescimento","synonyms":["Síndrome Kowarski"],"definition":"Esta síndrome é caracterizada por atraso do crescimento e baixa estatura (apesar da presença de níveis normais ou ligeiramente elevados da hormona de crescimento imunorreativa, GH), baixas concentrações do fator de crescimento insulina-like-I (IGF-I) e um aumento significativo na taxa de crescimento após a terapia com GH recombinante."},"pl":{"name":"Niski wzrost spowodowany anomalią jakościową hormonu wzrostu","synonyms":["Zespół Kowarskiego"]},"cs":{"name":"Malý vzrůst způsobený kvalitativní anomálií růstového hormonu","synonyms":["Kowarského syndrom"]},"uk":{"name":"Низькорослість внаслідок аномального гормону росту","synonyms":["Синдром Коварського"],"definition":"Short stature due to growth hormone qualitative anomaly is characterised by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of insulin-like growth factor-I (IGF-I) and a significant increase in growth rate following recombinant GH therapy. Prevalence is unknown but only a few cases have been reported in the literature. The syndrome is caused by various mutations in the <i>GH1</i> gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive."},"zh":{"name":"生长激素结构异常所致身材矮小","synonyms":["Kowarski综合征"]},"tr":{"name":"Büyüme hormonu kalitatif anomali -ilişkili kısa boy","synonyms":["Kowarski sendromu"]}},"xrefs":[{"source":"OMIM","code":"262650","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E23.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A61.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1665498704"},{"source":"MONDO","code":"0009879","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537505","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1849779","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"408","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":631,"name":"Non-acquired isolated growth hormone deficiency","classifications":[156,193]}],"children":[],"genes":[{"symbol":"GH1","name":"growth hormone 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"8552145[PMID]_9276733[PMID]_15713716[PMID]","hgnc":"4261","ensembl":"ENSG00000259384","omim":"139250","loci":["17q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"263308[PMID]_3965948[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_263308[PMID]_3965948[PMID]"}],"phenotypes":null}