{"orpha":199296,"name":"Congenital isolated ACTH deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare endocrine disease characterized by neonatal hypoglycemia, prolonged cholestatic jaundice, and seizures. Typical are low plasma ACTH and cortisol levels in the absence of structural pituitary defects, and sometimes low partial growth hormone deficiency is associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-199296/","orphanet_url":"https://www.orpha.net/en/disease/detail/199296","names":{"fr":{"name":"Déficit congénital isolé en ACTH","definition":"Maladie endocrinienne rare caractérisée par une hypoglycémie néonatale, un ictère cholestatique prolongée et des crises convulsives. On observe de faibles taux plasmatiques d'ACTH et de cortisol en l'absence d'anomalies structurelles de l'hypophyse, en association avec un déficit partiel en hormone de croissance."},"de":{"name":"ACTH-Mangel, isolierter, kongenitaler","definition":"Eine seltene endokrine Erkrankung, die durch neonatale Hypoglykämie, anhaltende cholestatische Gelbsucht und Krampfanfälle gekennzeichnet ist. Typisch sind niedrige ACTH- und Cortisol-Plasmaspiegel bei Fehlen struktureller Hypophysendefekte, und gelegentlich ist ein niedriger partieller Wachstumshormonmangel damit verbunden."},"es":{"name":"Deficiencia de ACTH congénita aislada","definition":"Es una enfermedad endocrina poco frecuente caracterizada por hipoglucemia neonatal, ictericia colestásica prolongada y crisis epilépticas. Los niveles plasmáticos de ACTH y de cortisol son típicamente bajos en ausencia de defectos estructurales hipofisarios y, en ocasiones, está asociada con una deficiencia parcial de la hormona del crecimiento"},"it":{"name":"Deficit congenito isolato di ACTH","definition":"Si tratta di un'endocrinopatia rara, caratterizzata da ipoglicemia neonatale, ittero colestatico prolungato e crisi epilettiche. Di solito si associa a livelli bassi di ACTH e cortisolo nel plasma, in assenza di difetti strutturali dell'ipofisi. Talvolta si associa ad un deficit parziale dell'ormone della crescita."},"nl":{"name":"Congenitale geïsoleerde ACTH-deficiëntie","definition":"Een zeldzame endocriene ziekte, gekarakteriseerd door neonatale hypoglycemie, langdurige cholestatische geelzucht, en insulten. Lage gehaltes van ACTH en cortisol in plasma in afwezigheid van structurele defecten van hypofyse zijn typerend, en soms is milde, partiële groeihormoondeficiëntie geassocieerd."},"pt":{"name":"Deficiência isolada de ACTH congénita"},"pl":{"name":"Wrodzony izolowany Niedobór ACTH"},"cs":{"name":"Vrozený izolovaný deficit ACTH"},"uk":{"name":"Вроджений ізольований дефіцит АКТГ","definition":"A rare endocrine disease characterized by neonatal hypoglycemia, prolonged cholestatic jaundice, and seizures. Typical are low plasma ACTH and cortisol levels in the absence of structural pituitary defects, and sometimes low partial growth hormone deficiency is associated."},"zh":{"name":"先天性孤立性促肾上腺皮质激素缺乏症","definition":"先天性孤立性ACTH缺乏症是一种罕见的内分泌疾病，其主要临床表现为新生儿低血糖、长时间胆汁淤积性黄疸和惊厥。典型症状为垂体结构正常的情况下，血浆ACTH和皮质醇水平降低，有时出现局部生长激素缺乏。"},"tr":{"name":"Doğumsal izole ACTH eksikliği"}},"xrefs":[{"source":"OMIM","code":"201400","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E23.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A74.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1839642679"},{"source":"MONDO","code":"0008720","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4055196","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5727","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":95488,"name":"Non-acquired pituitary hormone deficiency","classifications":[156,193]}],"children":[],"genes":[{"symbol":"TBX19","name":"T-box transcription factor 19","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15476446[PMID]_15613420[PMID]","hgnc":"11596","ensembl":"ENSG00000143178","omim":"604614","loci":["1q24.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-09-12","source":"15525497[PMID]_11290323[PMID]_22170728[PMID]_15666849[PMID]_15476446[PMID]_15613420[PMID]_16390921[PMID]_8008696[PMID]_6314808[PMID]_4295129[PMID]","terms":[{"hpo":"HP:0011735","label":"Adrenocorticotropin deficient adrenal insufficiency","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0008163","label":"Decreased circulating cortisol level","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001998","label":"Neonatal hypoglycemia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000835","label":"Adrenal hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002902","label":"Hyponatremia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002615","label":"Hypotension","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002173","label":"Hypoglycemic seizures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006579","label":"Prolonged neonatal jaundice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012115","label":"Hepatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002153","label":"Hyperkalemia","frequency":"Excluded (0%)","criteria":null}]}}