{"orpha":650097,"name":"Genetic central precocious puberty in male","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Genetic CPP in boy","Genetic CPP in male","Genetic central precocious puberty in boy"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-650097/","orphanet_url":"https://www.orpha.net/en/disease/detail/650097","names":{"fr":{"name":"Puberté précoce centrale génétique de l'homme","synonyms":["Puberté précoce centrale génétique du garçon"]},"de":{"name":"Genetisch bedingte zentrale vorzeitige Pubertät bei Jungen","synonyms":["Genetische CPP bei Jungen"]},"es":{"name":"Pubertad precoz central genética en el varón","synonyms":["PPC genética en el niño","PPC genética en el varón"]},"it":{"name":"Pubertà maschile precoce centrale genetica","synonyms":["CPP genetica nel ragazzo","CPP maschile genetica"]},"nl":{"name":"Genetische centrale pubertas praecox bij man","synonyms":["Genetische CPP bij jongen","Genetische CPP bij man","Genetische centrale pubertas praecox bij jongen","Genetische centrale vroegtijdige puberteit bij man"]},"pt":{"name":"Puberdade precoce central genética no indivíduo masculino","synonyms":["CPP genética no indivíduo masculino","CPP genética nos rapazes"]},"pl":{"name":"Genetycznie uwarunkowane przedwczesne dojrzewanie płciowe pochodzenia ośrodkowego u mężczyzny","synonyms":["Genetic CPP in boy","Genetic CPP in male","Genetic central precocious puberty in boy"]},"cs":{"name":"Genetická centrální předčasná puberta u mužů","synonyms":["Genetic CPP in boy","Genetic CPP in male","Genetic central precocious puberty in boy"]},"uk":{"name":"Генетично обумовлене центральне передчасне статеве дозрівання у хлопчиків","synonyms":["Генетичне центральне передчасне статеве дозрівання у хлопчика","Генетичне CPP у хлопчика","Генетичне CPP у чоловіків"]}},"xrefs":[{"source":"OMIM","code":"176400","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615346","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E22.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0968990","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5816761","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":650182,"name":"Genetic central precocious puberty","classifications":[156]},{"orpha":650087,"name":"Primary central precocious puberty in male","classifications":[193]}],"children":[],"genes":[{"symbol":"DLK1","name":"delta like non-canonical Notch ligand 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30733078[PMID]","hgnc":"2907","ensembl":"ENSG00000185559","omim":"176290","loci":["14q32.2"]},{"symbol":"KISS1","name":"KiSS-1 metastasis suppressor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20237166[PMID]","hgnc":"6341","ensembl":"ENSG00000170498","omim":"603286","loci":["1q32.1"]},{"symbol":"KISS1R","name":"KISS1 receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32228714[PMID]","hgnc":"4510","ensembl":"ENSG00000116014","omim":"604161","loci":["19p13.3"]},{"symbol":"MKRN3","name":"makorin ring finger protein 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23738509[PMID]","hgnc":"7114","ensembl":"ENSG00000179455","omim":"603856","loci":["15q11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}