{"orpha":562,"name":"McCune-Albright syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare mosaic syndrome characterized by the combination of two or more of the following: fibrous dysplasia of bone (FD), hyperpigmented macules, and hyperfunctioning endocrinopathies (precocious puberty, hyperthyroidism, growth hormone excess, endogenous Cushing syndrome).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-562/","orphanet_url":"https://www.orpha.net/en/disease/detail/562","names":{"fr":{"name":"Syndrome de McCune-Albright","definition":"Syndrome mosaïque rare caractérisé par l'association de deux ou plusieurs critères suivants&nbsp;: dysplasie ostéofibreuse (DO), macules hyperpigmentées et endocrinopathies d'hyperfonctionnement (puberté précoce, hyperthyroïdie, excès d'hormone de croissance, syndrome de Cushing endogène)."},"de":{"name":"McCune-Albright-Syndrom","definition":"Ein seltenes Mosaiksyndrom, das durch die Kombination von zwei oder mehr der folgenden Merkmale gekennzeichnet ist: fibröse Knochendysplasie (FD), hyperpigmentierte Makula und hyperfunktionelle Endokrinopathien (vorzeitige Pubertät, Hyperthyreose, Wachstumshormonüberschuss, endogenes Cushing-Syndrom)."},"es":{"name":"Síndrome de McCune-Albright","definition":"Es un síndrome por mosaicismo poco frecuente caracterizado por la combinación de dos o más de los siguientes hallazgos: displasia fibrosa ósea (DF), máculas hiperpigmentadas y endocrinopatías hiperfuncionantes (pubertad precoz, hipertiroidismo, exceso de hormona del crecimiento, síndrome de Cushing endógeno)."},"it":{"name":"Sindrome di McCune-Albright","synonyms":["Pubertà femminile precoce indipendente dalle gonadotropine"]},"nl":{"name":"Syndroom van McCune-Albright","synonyms":["Gonadotropine-onafhankelijke tot vrouwen beperkte seksuele precociteit"],"definition":"Een zeldzaam mozaïsch syndroom, gekenmerkt door de combinatie van twee of meer van de volgende: fibreuze dysplasie van bot (FD), hypergepigmenteerde maculae, en hyperfunctionerende endocrinopathieën (vroegtijdige puberteit, hyperthyreoïdie, overmaat van groeihormoon, endogeen syndroom van Cushing)."},"pt":{"name":"Síndrome McCune-Albright","synonyms":["Puberdade precoce limitada ao sexo feminino independente da gonadotrofina"],"definition":"Síndrome em mosaico rara caracterizada pela combinação de dois ou mais dos seguintes: displasia fibrosa óssea (DF), máculas hiperpigmentadas e endocrinopatias hiperfuncionais (puberdade precoce, hipertiroidismo, excesso de hormona do crescimento, síndrome Cushing endógena)."},"pl":{"name":"Zespół McCune i Albrighta","synonyms":["Niezależne od gonadotropin przedwczesne dojrzewanie płciowe kobiet"],"definition":"Zespół McCune’a-Albrighta (MAS) klasycznie definiuje się jako kliniczną triadę obejmującą dysplazję włóknistą kości, plamy skórne o typie „kawy z mlekiem” oraz przedwczesne dojrzewanie płciowe."},"cs":{"name":"McCuneův-Albrightův syndrom","synonyms":["Gonadotropin independentní předčasná puberta dívek","McCune-Albrightův syndrom"],"definition":"McCuneův-Albrightův syndrom (MAS) bývá charakterizován trojicí příznaků – fibrózní dysplázií kostí (FD, nahrazení části kosti vazivem), kožními skvrnami typu café au lait (skvrny barvy bílé kávy), a předčasnou pubertou."},"uk":{"name":"Синдром МакКьюна-Олбрайта","synonyms":["Гонадотропін-незалежне жіноче передчасне статеве дозрівання"],"definition":"A rare mosaic syndrome characterized by the combination of two or more of the following: fibrous dysplasia of bone (FD), hyperpigmented macules, and hyperfunctioning endocrinopathies (precocious puberty, hyperthyroidism, growth hormone excess, endogenous Cushing syndrome)."},"zh":{"name":"McCune-Albright综合征","synonyms":["促性腺激素非依赖性女性性早熟"]},"tr":{"name":"McCune-Albright sendromu","synonyms":["Gonadotropin-kadından bağımsız-sınırlı cinsel erken gelişmişliği"]}},"xrefs":[{"source":"OMIM","code":"174800","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.1","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"FB80.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"132749439"},{"source":"MONDO","code":"0018919","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0242292","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6995","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10052032","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":595216,"name":"Fibrous dysplasia/McCune-Albright syndrome","classifications":[147,156,199]},{"orpha":183466,"name":"Genetic hyperpigmentation of the skin","classifications":[156]},{"orpha":435564,"name":"Genetic precocious puberty in female","classifications":[156]},{"orpha":79375,"name":"Hyperpigmentation of the skin","classifications":[187]},{"orpha":183422,"name":"Polymalformative genetic syndrome with increased risk of developing cancer","classifications":[156,202]},{"orpha":314749,"name":"Rare disease with adrenal Cushing syndrome as a major feature","classifications":[193]},{"orpha":178040,"name":"Rare peripheral precocious puberty","classifications":[156,193]},{"orpha":650187,"name":"Rare peripheral precocious puberty in female","classifications":[205]}],"children":[],"genes":[{"symbol":"GNAS","name":"GNAS complex locus","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"1594625[PMID]_1944469[PMID]","hgnc":"4392","ensembl":"ENSG00000087460","omim":"139320","loci":["20q13.32"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.55,"area":"Europe","status":"Validated","source":"18489744[PMID]_[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-03-24","source":"26209174[PMID]_25719192[PMID]","terms":[{"hpo":"HP:0031072","label":"Abnormal endocrine physiology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005605","label":"Large cafe-au-lait macules with irregular margins","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000138","label":"Ovarian cyst","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000826","label":"Precocious puberty","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000035","label":"Abnormal testis morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011821","label":"Abnormality of facial skeleton","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002823","label":"Abnormality of femur morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002693","label":"Abnormality of the skull base","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000820","label":"Abnormality of the thyroid gland","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005616","label":"Accelerated skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010734","label":"Fibrous dysplasia of the bones","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001507","label":"Growth abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000836","label":"Hyperthyroidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030088","label":"Increased serum testosterone level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000053","label":"Macroorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010736","label":"Monostotic fibrous dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000124","label":"Renal tubular dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000271","label":"Abnormality of the face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006719","label":"Benign gastrointestinal tract tumors","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0020110","label":"Bone fracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000144","label":"Decreased fertility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000689","label":"Dental malocclusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000845","label":"Elevated circulating growth hormone concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000853","label":"Goiter","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012028","label":"Hepatocellular adenoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010791","label":"Hyperplasia of the Leydig cells","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008768","label":"Inappropriate sexual behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000870","label":"Increased circulating prolactin concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000858","label":"Irregular menstruation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001742","label":"Nasal congestion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002749","label":"Osteomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001733","label":"Pancreatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010735","label":"Polyostotic fibrous dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002757","label":"Recurrent fractures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000117","label":"Renal phosphate wasting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012063","label":"Aneurysmal bone cyst","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005528","label":"Bone marrow hypocellularity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003002","label":"Breast carcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001396","label":"Cholestasis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030428","label":"Cutaneous myxoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012115","label":"Hepatitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003109","label":"Hyperphosphaturia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002148","label":"Hypophosphatemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003118","label":"Increased circulating cortisol level","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001876","label":"Pancytopenia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001579","label":"Primary hypercortisolism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Very rare (<4-1%)","criteria":null}]}}