{"orpha":650087,"name":"Primary central precocious puberty in male","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Primary CPP in boy","Primary CPP in male","Primary central precocious puberty in boy"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-650087/","orphanet_url":"https://www.orpha.net/en/disease/detail/650087","names":{"fr":{"name":"Puberté précoce centrale primaire de l'homme","synonyms":["Puberté précoce centrale primaire du garçon"]},"de":{"name":"Primäre zentrale vorzeitige Pubertät bei Jungen","synonyms":["Primäre CPP bei Jungen","Primäre zentrale Pubertas praecox, männliche Form"]},"es":{"name":"Pubertad precoz central primaria en el varón","synonyms":["PPC primaria en el varón","Pubertad precoz central primaria en el niño"]},"it":{"name":"Pubertà maschile precoce centrale primaria","synonyms":["CPP maschile primaria","Pubertà precoce centrale primaria nel ragazzo"]},"nl":{"name":"Primaire centrale pubertas praecox bij man","synonyms":["Primaire CPP bij jongen","Primaire CPP bij man","Primaire centrale pubertas praecox bij jongen","Primaire centrale vroegtijdige puberteit bij man"]},"pt":{"name":"Puberdade precoce central primária no indivíduo masculino","synonyms":["CPP primária no indivíduo masculino","Puberdade precoce central primária nos rapazes"]},"pl":{"name":"Pierwotne przedwczesne dojrzewanie płciowe pochodzenia ośrodkowego u mężczyzny","synonyms":["Primary CPP in boy","Primary CPP in male","Primary central precocious puberty in boy"]},"cs":{"name":"Primární centrální předčasná puberta u mužů","synonyms":["Primary CPP in boy","Primary CPP in male","Primary central precocious puberty in boy"]},"uk":{"name":"Первинне центральне передчасне статеве дозрівання у хлопчиків","synonyms":["Первинне центральне передчасне статеве дозрівання у хлопчика","Первинне CPP у хлопчика","Первинне CPP у чоловіків"]}},"xrefs":[{"source":"ICD-10","code":"E22.8","qualifier":"NTBT","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"5A60.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0958356","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"958356","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5816763","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":649929,"name":"Central precocious puberty in male","classifications":[193]}],"children":[{"orpha":650097,"name":"Genetic central precocious puberty in male","type":"Clinical subtype"},{"orpha":650102,"name":"Non-genetic central precocious puberty in male","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":650097,"name":"Genetic central precocious puberty in male"}},{"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"],"via":{"orpha":650097,"name":"Genetic central precocious puberty in male"}},{"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"],"via":{"orpha":650097,"name":"Genetic central precocious puberty in male"}},{"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"],"via":{"orpha":650097,"name":"Genetic central precocious puberty in male"}}],"inheritance":["Autosomal recessive","Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}