{"orpha":3000,"name":"Familial peripheral male-limited precocious puberty","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["FMPP","Familial gonadotropin-independent male-limited sexual precocity","Male-limited precocious puberty","Testotoxicosis"],"definition":"Familial male limited precocious puberty (FMPP) is a gonadotropin-independent familial form of male-limited precocious puberty, generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3000/","orphanet_url":"https://www.orpha.net/en/disease/detail/3000","names":{"fr":{"name":"Puberté périphérique précoce familiale limitée aux garçons","synonyms":["FMPP","Puberté précoce indépendante des gonadotropines chez le garçon","Puberté précoce limitée aux garçons","Testotoxicose"],"definition":"La puberté précoce familiale limitée aux garçons (PPFG) est une forme familiale de puberté précoce indépendante des gonadotrophines survenant chez le garçon et se présentant généralement entre l'âge de 2 et 5 ans par une accélération de la croissance, un développement précoce des caractères sexuels secondaires et une taille adulte réduite."},"de":{"name":"Vorzeitige männliche Pubertät, familiäre Form","synonyms":["FMPP","Familiäre gonadotropin-unabhängige männlich-limitierte Pubertas praecox","Pubertas praecox bei Knaben","Testotoxikose"],"definition":"Die Familiäre gonadotropin-unabhängige männlich limitierte Pubertas praecox (FMPP) wird in der Regel im Alter zwischen 2 und 5 Jahren mit beschleunigtem Wachstum und früher Entwicklung der sekundären Geschlechtsmerkmale manifest. Die Körpergröße der erwachsenen Patienten ist reduziert."},"es":{"name":"Pubertad precoz familiar limitada al varón","synonyms":["FMPP","Pubertad precoz familiar independiente de gonadotropinas limitada al varón","Pubertad precoz limitada al varón","Testotoxicosis"],"definition":"La pubertad familiar precoz limitada al varón (FMPP) es una forma familiar independiente de gonadotropinas de pubertad precoz limitada al varón que se presenta generalmente entre los 2 y los 5 años de edad en forma de crecimiento acelerado, desarrollo temprano de las características sexuales secundarias y talla reducida en la edad adulta."},"it":{"name":"Pubertà precoce familiare limitata ai maschi","synonyms":["FMPP","Precocità sessuale familiare indipendente dalle gonadotropine limitata ai maschi","Pubertà precoce limitata ai maschi","Testotossicosi"],"definition":"La pubertà precoce familiare limitata ai maschi (FMPP) è una forma familiare di pubertà precoce confinata ai maschi, indipendente dalle gonadotropine, che di solito esordisce a 2-5 anni di vita con crescita accelerata, sviluppo precoce dei caratteri sessuali secondari e riduzione della statura finale adulta."},"nl":{"name":"Familiale vroegtijdige puberteit beperkt tot mannen","synonyms":["FMPP","Familiale gonadotrofine-onafhankelijke pubertas praecox beperkt tot mannen","Testotoxicose","Vroegtijdige puberteit beperkt tot mannen"],"definition":"Familiale vroegtijdige puberteit beperkt tot mannen (FMPP) is een gonadotropine-onafhankelijke, familiale vorm van tot mannen beperkte vroegtijdige puberteit, die zich gewoonlijk voordoet tussen de leeftijd van 2-5 jaar als versnelde groei, vroege ontwikkeling van secundaire geslachtskenmerken en een gereduceerde volwassen lengte."},"pt":{"name":"Puberdade precoce familiar limitada ao sexo masculino","synonyms":["Puberdade precoce limitada ao sexo masculino","Testotoxicose","Puberdade precoce familiar independente da gonadotrofina limitada ao sexo masculino"]},"pl":{"name":"Rodzinne męskie przedwczesne dojrzewanie płciowe","synonyms":["FMPP","Męskie przedwczesne dojrzewanie płciowe","Rodzinne męskie przedwczesne dojrzewanie płciowe niezależne od gonadotropin","Testotoksykoza"]},"cs":{"name":"Familiární mužská předčasná puberta","synonyms":["FMPP","Testotoxikóza","Familiární mužská testotoxikóza","Familiární mužská předčasná puberta závislá na gonadotropinu","Mužská předčasná puberta"]},"uk":{"name":"Сімейне периферичне передчасне статеве дозрівання, обмежене чоловічою статтю","synonyms":["Сімейний гонадотропін-незалежний чоловічий синдром передчасного статевого дозрівання","FMPP","Передчасне статеве дозрівання, обмежене чоловічою статтю","Тестотоксикоз"],"definition":"Familial male limited precocious puberty (FMPP) is a gonadotropin-independent familial form of male-limited precocious puberty, generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height."},"zh":{"name":"家族性男性性早熟","synonyms":["家族性促性腺激素非依赖性男性性早熟"]},"tr":{"name":"Ailesel erkek cinsiyetle sınırlı erken ergenlik","synonyms":["FMPP","Testotoksikoz","Erkeklerle sınırlı erken ergenlik","Ailesel gonadotropin bağımsız, erkek sınırlı cinsel erken gelişmişlik"]}},"xrefs":[{"source":"OMIM","code":"176410","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E30.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A81.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1017191805"},{"source":"MeSH","code":"C536961","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0342549","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4475","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10063654","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":178040,"name":"Rare peripheral precocious puberty","classifications":[156,193]}],"children":[],"genes":[{"symbol":"LHCGR","name":"luteinizing hormone/choriogonadotropin receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"6585","ensembl":"ENSG00000138039","omim":"152790","loci":["2p16.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0005616","label":"Accelerated skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003251","label":"Male infertility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000826","label":"Precocious puberty","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000098","label":"Tall stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001595","label":"Abnormality of the hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001061","label":"Acne","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000040","label":"Long penis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000053","label":"Macroorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000798","label":"Oligozoospermia","frequency":"Occasional (29-5%)","criteria":null}]}}