{"orpha":199247,"name":"Corticosteroid-binding globulin deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Transcortin deficiency"],"definition":"Corticosteroid-binding globulin deficiency is a rare, genetic, adrenal disease characterized by diminished corticosteroid-binding capacity associated with normal or low plasma corticosteroid-binding globulin concentration and reduced total plasma cortisol levels. Patients typically present chronic pain, fatigue and hypo/hypertension.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-199247/","orphanet_url":"https://www.orpha.net/en/disease/detail/199247","names":{"fr":{"name":"Déficit en transcortine","definition":"Maladie génétique rare des surrénales caractérisée par une diminution de la capacité de liaison des corticostéroïdes associée à une concentration plasmatique normale ou faible de globuline liant les corticostéroïdes et à une réduction du taux de cortisol plasmatique total. Les patients présentent typiquement des douleurs chroniques, une fatigue et une hypo/hypertension."},"de":{"name":"CBG (Cortisol-bindendes Globulin)-Mangel","synonyms":["Transcortin-Mangel"]},"es":{"name":"Deficiencia de globulina de unión a corticosteroide","synonyms":["Deficiencia de transcortina"],"definition":"La deficiencia de globulina enlazante de corticosteroides es una enfermedad adrenal genética, poco frecuente, caracterizada por una capacidad disminuida de fijación de corticosteroides asociada a una concentración plasmática normal o baja de globulina enlazante de corticosteroides y una reducción de los niveles de cortisol sérico total. Los afectados suelen presentar dolor crónico, fatiga e hipo- / hipertensión."},"it":{"name":"Deficit di transcortina","definition":"Il deficit di transcortina è una malattia genetica rara dei surreni, caratterizzata da una diminuzione della capacità di legare i corticosteroidi, associata ad una concentrazione normale o diminuita della globulina che lega i corticosteroidi nel plasma e ad una riduzione dei livelli di cortisolo totale nel plasma. Di solito i pazienti presentano dolore cronico, affaticamento ed ipo/ipertensione."},"nl":{"name":"Deficiëntie van corticosteroïdbindend globuline","synonyms":["Deficiëntie van transcortine"],"definition":"Corticosteroïdebindende globulinedeficiëntie is een zeldzame, genetische adrenale ziekte die gekarakteriseerd wordt door een afname van de bindingscapaciteit voor corticosteroïden, geassocieerd met een normale of lage concentratie van corticosteroïdebindende globulinen en een verlaagd gehalte van totaal cortisol in het plasma. Patiënten vertonen doorgaans chronische pijn, vermoeidheid en hypo-/hypertensie."},"pt":{"name":"Deficiência de globulina de ligação a corticoesteróides"},"pl":{"name":"Niedobór globuliny wiążącej kortykosteroidy","synonyms":["Niedobór transkortyny"],"definition":"*Niedobór globuliny wiążącej kortykosteroidy jest rzadką, genetycznie uwarunkowaną chorobą nadnerczy, która charakteryzuje się zmniejszoną zdolnością wiązania kortykosteroidów, z towarzyszącym prawidłowym lub niskim stężeniem globuliny wiążącej kortykosteroidy w osoczu oraz obniżonym całkowitym stężeniem kortyzolu w osoczu. Wśród objawów klinicznych typowo obserwuje się przewlekły ból, zmęczenie i obniżone ciśnienie krwi/nadciśnienie."},"cs":{"name":"Deficit globulinu vázajícího kortikosteroidy","synonyms":["Deficit transkortinu"]},"uk":{"name":"Дефіцит кортикостероїд-звязуючого глобуліну","synonyms":["Дефіцит транскортину"],"definition":"Corticosteroid-binding globulin deficiency is a rare, genetic, adrenal disease characterized by diminished corticosteroid-binding capacity associated with normal or low plasma corticosteroid-binding globulin concentration and reduced total plasma cortisol levels. Patients typically present chronic pain, fatigue and hypo/hypertension."},"zh":{"name":"皮质类固醇结合球蛋白缺乏症","synonyms":["运皮质激素蛋白缺乏症"],"definition":"皮质类固醇结合球蛋白缺乏症是一种罕见的遗传性肾上腺疾病，其主要临床表现为皮质类固醇结合能力降低，血浆皮质醇水平降低或正常，出现慢性疼痛、疲劳和低血压/高血压。"},"tr":{"name":"Kortikosteroid bağlayıcı globulin eksikliği","synonyms":["Transkortin eksikliği"]}},"xrefs":[{"source":"OMIM","code":"611489","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E27.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A76.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"539538367"},{"source":"MONDO","code":"0012675","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565152","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1852529","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13101","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":101954,"name":"Rare adrenal disease","classifications":[193]},{"orpha":183637,"name":"Rare genetic adrenal disease","classifications":[156]},{"orpha":250811,"name":"Serpinopathy with loss of serpin function","classifications":[156]}],"children":[],"genes":[{"symbol":"SERPINA6","name":"serpin family A member 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12780753[PMID]","hgnc":"1540","ensembl":"ENSG00000170099","omim":"122500","loci":["14q32.13"]}],"genes_via_subtypes":[],"inheritance":["Semi-dominant"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}