{"entities":{"Q106510":{"pageid":96907,"ns":120,"title":"Item:Q106510","lastrevid":616830,"modified":"2026-08-17T13:29:53Z","type":"item","id":"Q106510","labels":{"mul":{"language":"mul","value":"ID_1665498704"},"pt-br":{"language":"pt-br","value":"Baixa estatura devido \u00e0 anomalia qualitativa do horm\u00f4nio de crescimento"},"en":{"language":"en","value":"Short stature due to growth hormone qualitative anomaly"}},"descriptions":{"pt-br":{"language":"pt-br","value":"Esta s\u00edndrome \u00e9 caracterizada por retardo do crescimento e baixa estatura (apesar da presen\u00e7a de n\u00edveis normais ou ligeiramente elevados de horm\u00f4nio do crescimento imunorreativo, GH), baixas concentra\u00e7\u00f5es do fator de crescimento semelhante a insulina-1 (IGF-1) e um aumento significativo da taxa de crescimento ap\u00f3s terapia com GH recombinante. A preval\u00eancia \u00e9 desconhecida mas apenas poucos casos j\u00e1 foram relatados na literatura. A s\u00edndrome \u00e9 causada por v\u00e1rias muta\u00e7\u00f5es no gene GH1 (17q22-q24) que resultam em anormalidades estruturais no GH e uma mol\u00e9cula biologicamente inativa. A transmiss\u00e3o \u00e9 autoss\u00f4mica recessiva."},"en":{"language":"en","value":"This syndrome 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 GH1 gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"0a3ee3dedbfd1f7ed55b71094eb21f706fe4ec53","datavalue":{"value":"https://id.who.int/icd/entity/1665498704","type":"string"},"datatype":"url"},"type":"statement","id":"Q106510$37B8B348-FED0-4783-BAFF-10A2CE53D599","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"74ac8e49f22895dab9c5d086c6a897c070718dea","datavalue":{"value":"CID11:ID_1665498704","type":"string"},"datatype":"string"},"type":"statement","id":"Q106510$CC218A8F-7DE0-4671-B6D6-2D98B3240A22","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"26d2be8883161080ea215748be46ac2b8ddb1b3a","datavalue":{"value":"dki-india-ID_1665498704","type":"string"},"datatype":"string"},"type":"statement","id":"Q106510$02AC60D0-92CF-4A0D-AA6C-2B3F29ADA8DC","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q106510$CA501C86-2723-44C3-8745-9B2AA890CD77","rank":"normal"}],"P78":[{"mainsnak":{"snaktype":"value","property":"P78","hash":"5f9b5be68b7400da549761cf15abfdbc4d1e075b","datavalue":{"value":"https://pauloleads.com.br/cases-publicos/","type":"string"},"datatype":"url"},"type":"statement","id":"Q106510$E82CB781-42FB-4E09-B932-62AB578D3357","rank":"normal"}],"P80":[{"mainsnak":{"snaktype":"value","property":"P80","hash":"8612011b2ca718e4ec0db5a49d2de6d25b2e811c","datavalue":{"value":{"time":"+2026-08-16T00:00:00Z","timezone":0,"before":0,"after":0,"precision":11,"calendarmodel":"http://www.wikidata.org/entity/Q1985727"},"type":"time"},"datatype":"time"},"type":"statement","id":"Q106510$73608D3B-9165-4E47-8345-B7589949079A","rank":"normal"}]},"sitelinks":{}}}}