{"orpha":300373,"name":"X-linked acrogigantism","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Familial infantile gigantism","Hereditary infantile gigantism","Hereditary pituitary hyperplasia","Infantile gigantism due to pituitary hyperplasia","X-LAG"],"definition":"A rare, genetic pituitary disease characterized by infantile-onset, rapid and excessive acceleration of linear growth and body size due to mixed growth hormone (GH)- and prolactin-secreting adenomas and/or pituitary hyperplasia. Patients present with gigantism and may have associated acromegalic features (e.g. coarse facial features, frontal bossing, prognathism, increased interdental space) as well as marked enlargement of hands and feet, soft tissue swelling, increased appetite and acanthosis nigricans.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-300373/","orphanet_url":"https://www.orpha.net/en/disease/detail/300373","names":{"fr":{"name":"Acrogigantisme lié à l'X","synonyms":["X-LAG","Gigantisme infantile familial","Gigantisme infantile héréditaire","Gigantisme infantile par hyperplasie hypophysaire","Hyperplasie hypophysaire héréditaire"],"definition":"Maladie hypophysaire rare d'origine génétique caractérisée par une accélération rapide et excessive de la croissance des os en longueur ainsi que de l'ensemble du corps causée par des adénomes sécrétant de l'hormone de croissance (GH) et de la prolactine et/ou par une hyperplasie hypophysaire. Les patients présentent un gigantisme associé ou non à d'autres signes d'acromégalie (par exemple, traits grossiers du visage, bosse frontale, prognathisme, espace interdentaire larges), ainsi qu'un élargissement marqué des mains et des pieds, un gonflement des tissus mous, un appétit accru et l'acanthosis nigricans."},"de":{"name":"Akrogigantismus, X-chromosomaler","synonyms":["Gigantismus, infantiler hereditärer","Gigantismus, infantiler, durch Hypophysenhyperplasie","Gigantismus, infantiler, familiäre Form","Hereditäre Hyperplasie der Hypophyse","X-LAG"],"definition":"Eine seltene genetisch bedingte Hypophysenerkrankung, die durch eine rasche und übermäßige Beschleunigung des Längenwachstums und der Körpergröße gekennzeichnet ist, die durch gemischte Wachstumshormon- (GH) und Prolaktin-sezernierende Adenome und/oder Hypophysenhyperplasie verursacht wird. Die Patienten zeigen Gigantismus und können akromegale Merkmale (z. B. grobe Gesichtszüge, Balkonstirn, Progenie, vergrößerte Zahnzwischenräume) sowie eine ausgeprägte Vergrößerung der Hände und Füße, Weichteilschwellungen, gesteigerten Appetit und Akanthosis nigricans aufweisen."},"es":{"name":"Acrogigantismo ligado al cromosoma X","synonyms":["Gigantismo infantil familiar","Gigantismo infantil hereditario","Gigantismo infantil por hiperplasia hipofisaria","Hiperplasia hipofisaria hereditaria","X-LAG"],"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":"Acrogigantismo legato all'X","synonyms":["Gigantismo infantile da iperplasia ipofisaria","Gigantismo infantile ereditario","Gigantismo infantile familiare","Iperplasia ipofisaria ereditaria","X-LAG"],"definition":"Si tratta di un'endocrinopatia genetica rara, caratterizzata da un'accelerazione rapida ed eccessiva della crescita lineare e delle dimensioni del corpo ad esordio precoce (da <12 mesi a 3 anni), causata da adenomi ipofisari misti secernenti l'ormone della crescita e la prolattina e/o da iperplasia ipofisaria a cellule miste. Si associa al gigantismo. I pazienti possono presentare inoltre lineamenti acromegalici (aspetto grossolano del viso, fronte bombata, prognatismo, denti iperdistanziati), mani e piedi notevolmente grandi, tumefazione dei tessuti molli, aumento dell'appetito e acanthosis nigricans."},"nl":{"name":"X-gebonden acrogigantisme","synonyms":["Erfelijk infantiel gigantisme","Erfelijke hypofysehyperplasie","Familiaal infantiel gigantisme","Familiale infantiele reuzengroei","Infantiel gigantisme door hypofysehyperplasie","X-LAG"],"definition":"Een zeldzame, genetische aandoening van hypofyse, gekarakteriseerd door infantiele aanvang van snelle en excessieve versnelling van lineaire groei en lichaamsomvang als gevolg van gemengd groeihormoon (GH)- en prolactine-secreterend adenoom en/of hyperplasie van hypofyse. Patiënten presenteren zich met gigantisme en hebben mogelijk geassocieerde kenmerken van acromegalie (e.g. ruwe gelaatskenmerken, boller voorhoofd, prognathie, grotere ruimtes tussen tanden), alsook uitgesproken vergroting van handen en voeten, zwelling van weke delen, verhoogde eetlust, en acanthosis nigricans."},"pt":{"name":"Gigantismo infantil, forma familiar"},"pl":{"name":"Rodzinny gigantyzm dziecięcy","synonyms":["Dziedziczny gigantyzm dziecięcy","Dziedziczny przerost przysadki","Gigantyzm dziecięcy z powodu hiperplazji przysadki","X-LAG (Gigantyzm kończyn sprzężony z chromosomem X)"]},"cs":{"name":"Familiární infantilní gigantismus","synonyms":["Hereditární infantilní gigantismus","Hereditární pituitární hyperplázie","X-LAG (X-vázaný akrogigantismus)","Infantilní gigantismus způsobený pituitární hyperplázií"]},"uk":{"name":"Х-зчеплений акрогігантізм","synonyms":["Сімейний інфантильний гігантизм","Спадковий дитячий гігантизм","Спадкова гіперплазія гіпофіза","Дитячий гігантизм внаслідок гіперплазії гіпофіза","X-LAG"],"definition":"A rare, genetic pituitary disease characterized by infantile-onset, rapid and excessive acceleration of linear growth and body size due to mixed growth hormone (GH)- and prolactin-secreting adenomas and/or pituitary hyperplasia. Patients present with gigantism and may have associated acromegalic features (e.g. coarse facial features, frontal bossing, prognathism, increased interdental space) as well as marked enlargement of hands and feet, soft tissue swelling, increased appetite and acanthosis nigricans."},"zh":{"name":"X连锁肢端巨人症","synonyms":["垂体增生所致婴儿巨人症"],"definition":"一种罕见的遗传性内分泌疾病，其特征是由于垂体混合型生长激素和催乳素细胞腺瘤和/或垂体混合细胞增生而导致的早发性（从 sup 12个月到3年）、快速过度线性生长和体型增大。患者表现为巨人症，可伴肢端肥大症（如面部粗糙、前额突出、牙间隙增大、前突）以及明显的手脚肿大、软组织肿胀、食欲增加和黑色棘皮病。"},"tr":{"name":"X'e bağlı akrogigantizm","synonyms":["X-LAG","Ailesel infantil devliği","Kalıtsal infantil devliği","Kalıtsal hipofiz hiperplazisi","Hipofiz hiperplazisine bağlı infantil devliği"]}},"xrefs":[{"source":"OMIM","code":"300942","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E22.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017581","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751112","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":448348,"name":"OBSOLETE: X-linked acrogigantism due to a point mutation","status":"inactive"},{"type":"Referred to","orpha":448372,"name":"OBSOLETE: X-linked acrogigantism due to Xq26 microduplication","status":"inactive"}],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":715120,"name":"Hyperpituitarism","classifications":[193]},{"orpha":183628,"name":"Rare genetic hypothalamic or pituitary disease","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["X-linked dominant"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":33.0,"area":"Worldwide","status":"Validated","source":"29389097[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-10-16","source":"25712922[PMID]_29389097[PMID]","terms":[{"hpo":"HP:0012503","label":"Abnormality of the pituitary gland","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:0030269","label":"Increased circulating insulin-like growth factor 1 concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000870","label":"Increased circulating prolactin concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000098","label":"Tall stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004924","label":"Abnormal oral glucose tolerance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025163","label":"Abnormality of optic chiasm morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031098","label":"Decreased thyroid-stimulating hormone level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008283","label":"Fasting hyperinsulinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031418","label":"Increased body mass index","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002893","label":"Pituitary adenoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002591","label":"Polyphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010535","label":"Sleep apnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025267","label":"Snoring","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001626","label":"Abnormality of the cardiovascular system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000924","label":"Abnormality of the skeletal system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000956","label":"Acanthosis nigricans","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011748","label":"Adrenocorticotropic hormone deficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000873","label":"Diabetes insipidus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000699","label":"Diastema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012505","label":"Enlarged pituitary gland","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040075","label":"Hypopituitarism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001176","label":"Large hands","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001833","label":"Long foot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001123","label":"Visual field defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very rare (<4-1%)","criteria":null}]}}