{"orpha":99725,"name":"Pituitary gigantism","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hypophyseal gigantism","Infantile and juvenile forms of acromegaly"],"definition":"A rare endocrine disease characterized by excessively tall stature and rapid growth velocity due to growth hormone excess from a pituitary adenoma/hyperplasia occurring before closure of the epiphyseal growth plates. Additional features may include pubertal delay, visual defects, headache, excessive appetite, hyperhidrosis, menstrual irregularity, prognathism, coarse facial features and large hands/feet.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99725/","orphanet_url":"https://www.orpha.net/en/disease/detail/99725","names":{"fr":{"name":"Gigantisme hypophysaire","synonyms":["Acromégalie infantile et juvénile","Gigantisme pituitaire"],"definition":"Maladie endocrinienne rare caractérisée par une très grande taille et une vitesse de croissance rapide dues à une sécrétion excessive d'hormone de croissance ayant pour origine un adénome hypophysaire/hyperplasie survenant avant la soudure des plaques de croissance épiphysaires. Les autres caractéristiques peuvent être un retard pubertaire, des défauts visuels, des céphalées, un appétit excessif, une hyperhidrose, des irrégularités du cycle menstruel, un prognathisme, des traits grossiers du visage et des mains et des pieds anormalement grands."},"de":{"name":"Gigantismus, hypophysärer","synonyms":["Akromegalie, infantile und juvenile Formen","Hypophysärer Riesenwuchs"],"definition":"Eine seltene endokrine Erkrankung, die durch eine übermäßige Körpergröße und ein schnelles Wachstum gekennzeichnet ist, das auf einen Wachstumshormonüberschuss aufgrund eines Hypophysenadenoms/einer Hypertrophie vor dem Verschluss der epiphysären Wachstumsplatten zurückzuführen ist. Weitere Merkmale können Pubertätsverzögerung, Sehstörungen, Kopfschmerzen, übermäßiger Appetit, Hyperhidrosis, Menstruationsunregelmäßigkeiten, Progenie, grobe Gesichtszüge und große Hände/Füße sein."},"es":{"name":"Gigantismo hipofisario","synonyms":["Acromegalia de formas infantil y juvenil","Gigantismo pituitario"],"definition":"Es una enfermedad endocrina poco frecuente caracterizada por una talla inusualmente alta (con una velocidad de crecimiento rápida) que ocurre antes del cierre de las placas de crecimiento epifisario debido a un exceso de hormona de crecimiento (GH) como resultado de un tumor hipofisario secretor de GH o por una hiperplasia hipofisaria. Otros hallazgos adicionales asociados pueden incluir retraso puberal, problemas visuales, cefalea, exceso de apetito, hiperhidrosis y metrorragia, prognatismo, rasgos faciales toscos y manos/ pies grandes."},"it":{"name":"Gigantismo ipofisario","synonyms":["Acromegalia, forme infantili e giovanili","Forme infantili e giovanili di acromegalia","Gigantismo pituitario"],"definition":"Si tratta di un'endocrinopatia rara, caratterizzata da una statura eccessivamente alta e da una crescita rapida, causate da un aumento dell'ormone della crescita, secondario a un adenoma/iperplasia ipofisaria, che si manifesta prima della chiusura delle cartilagini epifisarie. Altri segni clinici sono la pubertà ritardata, i difetti della vista, la cefalea, l'aumento dell'appetito, l'iperidrosi, l'irregolarità mestruale, il prognatismo, l'aspetto grossolano del viso e le mani/piedi grandi."},"nl":{"name":"Hypofysair gigantisme","synonyms":["Hypofysaire reuzengroei","Infantiele en juveniele vormen van acromegalie"],"definition":"Een zeldzame endocriene ziekte, gekarakteriseerd door excessief grote gestalte en hoge groeisnelheid als gevolg van overmaat aan groeihormoon (GH) afkomstig van adenoom/hyperplasie van hypofyse die voorkomt voor sluiting van de epifysaire schijven. Mogelijke bijkomend kenmerken zijn onder meer vertraagde puberteit, visuele defecten, hoofdpijn, excessieve eetlust, hyperhidrose, onregelmatige menstruatie, prognathie, ruwe gelaatskenmerken en grote handen/voeten."},"pt":{"name":"Gigantismo hipofisário","synonyms":["Formas infantis e juvenis de acromegalia","Gigantismo pituitário"]},"pl":{"name":"Gigantyzm przysadkowy","synonyms":["Dziecięce i młodzieńcze formy akromegalii"]},"cs":{"name":"Pituitární gigantismus","synonyms":["Hypofyzární gigantismus","Infantilní a juvenilní formy akromegalie"]},"uk":{"name":"Гіпофізарний гігантизм","synonyms":["Гіпофізарний гігантизм","Інфантильна та ювенільна форми акромегалії"],"definition":"A rare endocrine disease characterized by excessively tall stature and rapid growth velocity due to growth hormone excess from a pituitary adenoma/hyperplasia occurring before closure of the epiphyseal growth plates. Additional features may include pubertal delay, visual defects, headache, excessive appetite, hyperhidrosis, menstrual irregularity, prognathism, coarse facial features and large hands/feet."},"zh":{"name":"垂体性巨人症","synonyms":["婴幼儿和少年型肢端肥大症"],"definition":"垂体巨人症是一种罕见的内分泌疾病，特征是在骨骺生长板闭合之前，由于垂体腺瘤/垂体增生引起生长激素过多而导致身材过高和生长速度过快。其他特征可能包括青春期延迟、视力缺陷、头痛、食欲不振、多汗症、月经不规律、凸颌、面部粗糙和手脚大。"},"tr":{"name":"Hipofizer devlik","synonyms":["Hipofiz devliği","İnfantil ve genç akromegali formları"]}},"xrefs":[{"source":"OMIM","code":"102200","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E22.0","qualifier":"NTBT","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"5A60.0","qualifier":"NTBT","icd_relation":"specific","validated":true,"icd11_uri":"825410563"},{"source":"MONDO","code":"0020479","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D005877","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0017547","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6506","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10018265","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":715120,"name":"Hyperpituitarism","classifications":[193]},{"orpha":96256,"name":"Somatotropic adenoma","classifications":[193,202]}],"children":[],"genes":[{"symbol":"AIP","name":"AHR interacting HSP90 co-chaperone","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26187128[PMID]","hgnc":"358","ensembl":"ENSG00000110711","omim":"605555","loci":["11q13.2"]},{"symbol":"MEN1","name":"menin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26187128[PMID]","hgnc":"7010","ensembl":"ENSG00000133895","omim":"613733","loci":["11q13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","X-linked dominant"],"onset":["Adolescent","Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]_26187128[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2015-11-04","source":"4843205[PMID]_6723082[PMID]_18200440[PMID]_16728643[PMID]_9920092[PMID]_17360484[PMID]","terms":[{"hpo":"HP:0005616","label":"Accelerated skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000845","label":"Elevated circulating growth hormone concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030269","label":"Increased circulating insulin-like growth factor 1 concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001176","label":"Large hands","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001712","label":"Left ventricular hypertrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001833","label":"Long foot","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011760","label":"Pituitary growth hormone cell adenoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012411","label":"Premature pubarche","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011407","label":"Proportionate tall stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000098","label":"Tall stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005978","label":"Type II diabetes mellitus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000141","label":"Amenorrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000870","label":"Increased circulating prolactin concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006767","label":"Pituitary prolactin cell adenoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100829","label":"Galactorrhea","frequency":"Occasional (29-5%)","criteria":null}]}}