{"orpha":963,"name":"Acromegaly","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare acquired endocrine disease related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-963/","orphanet_url":"https://www.orpha.net/en/disease/detail/963","names":{"fr":{"name":"Acromégalie","definition":"Maladie endocrinienne acquise rare liée à une production excessive d'hormone de croissance (growth hormone, GH) et caractérisée par une déformation progressive (touchant principalement le visage et les extrémités) et des manifestations systémiques."},"de":{"name":"Akromegalie","definition":"Eine erworbene endokrine Erkrankung, die mit exzessiver Produktion von Wachstumshormon (GH) einhergeht. Folgen sind zunehmende körperliche Entstellung (vor allem des Gesichtes und der Extremitäten) und systemische Manifestationen."},"es":{"name":"Acromegalia","definition":"Es un trastorno endocrino adquirido poco frecuente relacionado con la producción excesiva de hormona del crecimiento (GH) y caracterizado por una desfiguración somática progresiva (que afecta principalmente a la cara y las extremidades) y por manifestaciones sistémicas."},"it":{"name":"Acromegalia","definition":"L'acromegalia è una malattia endocrina acquisita rara, correlata a un'eccessiva produzione dell'ormone della crescita (GH); è caratterizzata dalla progressiva deformazione somatica (che interessa per lo più il volto e gli arti) e da sintomi sistemici."},"nl":{"name":"Acromegalie","definition":"Een zeldzame, verworven endocriene ziekte, gerelateerd aan excessieve productie van groeihormoon (GH) en gekarakteriseerd door progressieve somatische misvorming (voornamelijk van aangezicht en ledematen) en systemische manifestaties."},"pt":{"name":"Acromegalia","definition":"A acromegalia é uma doença adquirida relacionada com a produção excessiva da hormona de crescimento (GH) e caracterizada por desfiguração somática progressiva (envolvendo principalmente a face e as extremidades) e manifestações sistémicas."},"pl":{"name":"Akromegalia","definition":"Rzadka nabyta choroba endokrynologiczna związana z nadmierną produkcją hormonu wzrostu. Charakteryzuje się postępującym zniekształceniem ciała (głównie twarzy i kończyn) oraz objawami ogólnoustrojowymi."},"cs":{"name":"Akromegalie"},"uk":{"name":"Акромегалія","definition":"A rare acquired endocrine disease related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations."},"zh":{"name":"肢端肥大症"},"tr":{"name":"Akromegali"}},"xrefs":[{"source":"OMIM","code":"102200","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"300943","qualifier":"BTNT","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":"0019933","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D000172","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0001206","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5725","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10000599","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":399831,"name":"Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder","classifications":[201]},{"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":"Major susceptibility factor in","status":"Assessed","source":"20530095[PMID]_23038625[PMID]_23300914[PMID]_20616502[PMID]","hgnc":"358","ensembl":"ENSG00000110711","omim":"605555","loci":["11q13.2"]},{"symbol":"GPR101","name":"G protein-coupled receptor 101","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"25470569[PMID]","hgnc":"14963","ensembl":"ENSG00000165370","omim":"300393","loci":["Xq26.3"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood","Elderly","Infancy"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.47,"area":"Worldwide","status":"Validated","source":"17893253[PMID]_26792654[PMID]_ORPHANET_[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.6,"area":"Spain","status":"Validated","source":"15476442[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":9.7,"area":"Italy","status":"Validated","source":"20621957[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":8.6,"area":"United Kingdom","status":"Validated","source":"19650784[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.19,"area":"Belgium","status":"Validated","source":"17893253[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":12.0,"area":"Belgium","status":"Validated","source":"[EXPERT]_17893253[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.4,"area":"Ireland","status":"Validated","source":"2349750[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":6.3,"area":"Ireland","status":"Validated","source":"2349750[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.34,"area":"Finland","status":"Validated","source":"20534753[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.39,"area":"Korea, Republic of","status":"Validated","source":"22909047[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.79,"area":"Korea, Republic of","status":"Validated","source":"22909047[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.77,"area":"Iceland","status":"Validated","source":"25893613[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":13.4,"area":"Iceland","status":"Validated","source":"25893613[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":7.8,"area":"United States","status":"Validated","source":"26792654[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.1,"area":"United States","status":"Validated","source":"26792654[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":8.5,"area":"Denmark","status":"Validated","source":"27280374[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.31,"area":"Malta","status":"Validated","source":"23239049[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":12.5,"area":"Malta","status":"Validated","source":"23239049[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.35,"area":"Sweden","status":"Validated","source":"25084775[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.38,"area":"Denmark","status":"Validated","source":"27280374[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-04-25","source":"18578866[PMID]_25905322[PMID]_25356808[PMID]","terms":[{"hpo":"HP:0000818","label":"Abnormality of the endocrine system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0033794","label":"Acral overgrowth","frequency":"Very frequent 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(99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001386","label":"Joint swelling","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001176","label":"Large hands","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004099","label":"Macrodactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Very frequent 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(79-30%)","criteria":null},{"hpo":"HP:0031653","label":"Abnormal heart valve physiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000956","label":"Acanthosis nigricans","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001061","label":"Acne","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000846","label":"Adrenal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001081","label":"Cholelithiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006824","label":"Cranial nerve paralysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010541","label":"Cutis gyrata of scalp","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003233","label":"Decreased HDL cholesterol concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0046504","label":"Decreased 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cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000802","label":"Impotence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000789","label":"Infertility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005266","label":"Intestinal polyp","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001653","label":"Mitral regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030166","label":"Night sweats","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000876","label":"Oligomenorrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000602","label":"Ophthalmoplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008245","label":"Pituitary hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006767","label":"Pituitary prolactin cell adenoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012452","label":"Restless legs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000869","label":"Secondary amenorrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002953","label":"Vertebral compression fracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001123","label":"Visual field defect","frequency":"Occasional (29-5%)","criteria":null}]}}